| Name |
|---|
PARP1 Genepoly (ADP-ribose) polymerase 1 This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008] |
PARPBP GenePARP1 binding protein Predicted to enable DNA binding activity. Involved in negative regulation of double-strand break repair via homologous recombination. Located in chromatin and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
SERPINE4P Geneserpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 4 pseudogene |
SERPINE1 Geneserpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. The protein also functions as a component of innate antiviral immunity. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. [provided by RefSeq, Aug 2020] |
SERPINE2 Geneserpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] |
SERPINE3 Geneserpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
SPINK2 Geneserine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor) This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] |
TFPI Genetissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) This gene encodes a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016] |
SERPING1 Geneserpin peptidase inhibitor, clade G (C1 inhibitor), member 1 This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020] |
PPP1R1AP2 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 2 |
DKK1 Genedickkopf WNT signaling pathway inhibitor 1 This gene encodes a member of the dickkopf family of proteins. Members of this family are secreted proteins characterized by two cysteine-rich domains that mediate protein-protein interactions. The encoded protein binds to the LRP6 co-receptor and inhibits beta-catenin-dependent Wnt signaling. This gene plays a role in embryonic development and may be important in bone formation in adults. Elevated expression of this gene has been observed in numerous human cancers and this protein may promote proliferation, invasion and growth in cancer cell lines. [provided by RefSeq, Sep 2017] |
TIMP1 GeneTIMP metallopeptidase inhibitor 1 This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the extracellular matrix. In addition to its inhibitory role against most of the known MMPs, the encoded protein is able to promote cell proliferation in a wide range of cell types, and may also have an anti-apoptotic function. Transcription of this gene is highly inducible in response to many cytokines and hormones. In addition, the expression from some but not all inactive X chromosomes suggests that this gene inactivation is polymorphic in human females. This gene is located within intron 6 of the synapsin I gene and is transcribed in the opposite direction. [provided by RefSeq, Jul 2008] |
SERPINB9 Geneserpin peptidase inhibitor, clade B (ovalbumin), member 9 This gene encodes a member of the serine protease inhibitor family which are also known as serpins. The encoded protein belongs to a subfamily of intracellular serpins. This protein inhibits the activity of the effector molecule granzyme B. Overexpression of this protein may prevent cytotoxic T-lymphocytes from eliminating certain tumor cells. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2012] |
SERPINB8 Geneserpin peptidase inhibitor, clade B (ovalbumin), member 8 The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017] |
SERPINB1 Geneserpin peptidase inhibitor, clade B (ovalbumin), member 1 The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] |
SERPINB3 Geneserpin peptidase inhibitor, clade B (ovalbumin), member 3 Enables cysteine-type endopeptidase inhibitor activity; protease binding activity; and virus receptor activity. Involved in several processes, including autocrine signaling; paracrine signaling; and regulation of protein metabolic process. Located in several cellular components, including cytoplasmic vesicle; cytosol; and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
SERPINB2 Geneserpin peptidase inhibitor, clade B (ovalbumin), member 2 Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in fibrinolysis and negative regulation of apoptotic process. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in cornified envelope and extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
SERPINB5 Geneserpin peptidase inhibitor, clade B (ovalbumin), member 5 Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to act upstream of or within several processes, including extracellular matrix organization; prostate gland morphogenesis; and regulation of epithelial cell proliferation. Located in cytoplasm. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Mar 2025] |
SERPINB4 Geneserpin peptidase inhibitor, clade B (ovalbumin), member 4 The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein is highly expressed in many tumor cells and can inactivate granzyme M, an enzyme that kills tumor cells. This protein, along with serpin B3, can be processed into smaller fragments that aggregate to form an autoantigen in psoriasis, probably by causing chronic inflammation. [provided by RefSeq, Jan 2017] |
SERPINB7 Geneserpin peptidase inhibitor, clade B (ovalbumin), member 7 This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] |
SERPINB6 Geneserpin peptidase inhibitor, clade B (ovalbumin), member 6 The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010] |
SRCIN1 GeneSRC kinase signaling inhibitor 1 Enables protein kinase binding activity. Involved in several processes, including postsynaptic actin cytoskeleton organization; regulation of protein tyrosine kinase activity; and substrate adhesion-dependent cell spreading. Located in actin cytoskeleton and cytoplasm. Is active in glutamatergic synapse. [provided by Alliance of Genome Resources, Mar 2025] |
GDI2 GeneGDP dissociation inhibitor 2 GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] |
GDI1 GeneGDP dissociation inhibitor 1 GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific cognitive disability. [provided by RefSeq, Jul 2008] |
AZIN1 Geneantizyme inhibitor 1 The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014] |
SERPINB8P1 Geneserpin peptidase inhibitor, clade B8 (ovalbumin) pseudogene 1 |
NKIRAS2 GeneNFKB inhibitor interacting Ras-like 2 Predicted to enable GTPase activating protein binding activity. Predicted to be involved in Ral protein signal transduction. Predicted to act upstream of or within several processes, including lung alveolus development; regulation of signal transduction; and surfactant homeostasis. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
NKIRAS1 GeneNFKB inhibitor interacting Ras-like 1 Predicted to enable GTPase activating protein binding activity. Predicted to be involved in Ral protein signal transduction. Predicted to act upstream of or within lung alveolus development; regulation of tumor necrosis factor-mediated signaling pathway; and surfactant homeostasis. Located in cytosol and endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025] |
DND1 GeneDND microRNA-mediated repression inhibitor 1 This gene encodes a protein that binds to microRNA-targeting sequences of mRNAs, inhibiting microRNA-mediated repression. Reduced expression of this gene has been implicated in tongue squamous cell carcinoma. Two pseudogenes of this gene are located on the long arm of chromosome 17. [provided by RefSeq, Dec 2010] |
INCA1 Geneinhibitor of CDK, cyclin A1 interacting protein 1 Enables cyclin binding activity; cyclin-dependent protein serine/threonine kinase inhibitor activity; and identical protein binding activity. Acts upstream of or within negative regulation of cyclin-dependent protein serine/threonine kinase activity. Located in cytoplasm and nuclear body. [provided by Alliance of Genome Resources, Mar 2025] |
SERPINH1P1 Geneserpin peptidase inhibitor, clade H1, pseudogene 1 |
NFKBIB Genenuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta The protein encoded by this gene belongs to the NF-kappa-B inhibitor family, which inhibit NF-kappa-B by complexing with, and trapping it in the cytoplasm. Phosphorylation of serine residues on these proteins by kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B, which translocates to the nucleus to function as a transcription factor. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jul 2011] |
NFKBID Genenuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta Predicted to enable NF-kappaB binding activity. Predicted to be involved in T cell receptor signaling pathway; positive regulation of T-helper 17 cell differentiation; and regulation of gene expression. Predicted to act upstream of or within several processes, including negative regulation of T cell differentiation in thymus; negative regulation of canonical NF-kappaB signal transduction; and positive regulation of thymocyte apoptotic process. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
NFKBIE Genenuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011] |
NFKBIZ Genenuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
DRAIC Genedownregulated RNA in cancer, inhibitor of cell invasion and migration |
PI3 Genepeptidase inhibitor 3, skin-derived This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines. [provided by RefSeq, Oct 2014] |
SERPINI1 Geneserpin peptidase inhibitor, clade I (neuroserpin), member 1 This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] |
SERPINI2 Geneserpin peptidase inhibitor, clade I (pancpin), member 2 The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013] |
PPP1R14D Geneprotein phosphatase 1, regulatory (inhibitor) subunit 14D Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylation (Liu et al., 2004 [PubMed 12974676]).[supplied by OMIM, Feb 2010] |
PPP1R14B Geneprotein phosphatase 1, regulatory (inhibitor) subunit 14B Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in innate immune response. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
PPP1R14C Geneprotein phosphatase 1, regulatory (inhibitor) subunit 14C The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010] |
PPP1R14A Geneprotein phosphatase 1, regulatory (inhibitor) subunit 14A The protein encoded by this gene belongs to the protein phosphatase 1 (PP1) inhibitor family. This protein is an inhibitor of smooth muscle myosin phosphatase, and has higher inhibitory activity when phosphorylated. Inhibition of myosin phosphatase leads to increased myosin phosphorylation and enhanced smooth muscle contraction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Sep 2011] |
PINX1 GenePIN2/TERF1 interacting, telomerase inhibitor 1 Enables telomerase RNA binding activity and telomerase inhibitor activity. Involved in several processes, including negative regulation of macromolecule metabolic process; positive regulation of protein localization to nucleolus; and protein localization to organelle. Acts upstream of or within telomere maintenance via telomerase. Located in several cellular components, including chromosomal region; nuclear lumen; and spindle. Implicated in hepatocellular carcinoma. [provided by Alliance of Genome Resources, Mar 2025] |
PKIG Geneprotein kinase (cAMP-dependent, catalytic) inhibitor gamma This gene encodes a member of the protein kinase inhibitor family. Studies of a similar protein in mice suggest that this protein acts as a potent competitive cAMP-dependent protein kinase inhibitor, and is a predominant form of inhibitor in various tissues. The encoded protein may be involved in osteogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
PKIA Geneprotein kinase (cAMP-dependent, catalytic) inhibitor alpha The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. This protein was demonstrated to interact with and inhibit the activities of both C alpha and C beta catalytic subunits of the PKA. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] |
PKIB Geneprotein kinase (cAMP-dependent, catalytic) inhibitor beta This gene encodes a member of the cAMP-dependent protein kinase inhibitor family. The encoded protein may play a role in the protein kinase A (PKA) pathway by interacting with the catalytic subunit of PKA, and overexpression of this gene may play a role in prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] |
SERPINA2 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 (gene/pseudogene) This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. The encoded intracellular glycoprotein is localized at the endoplasmic reticulum. This gene is a polymorphic pseudogene, with the non-functional allele being predominant in some populations. Some individuals, as represented by the reference genome allele, contain a 2kb coding region deletion and a start code mutation. [provided by RefSeq, Feb 2014] |
SERPINA3 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jun 2020] |
SERPINA4 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 Predicted to enable serine-type endopeptidase inhibitor activity. Located in extracellular exosome. Biomarker of diabetic retinopathy. [provided by Alliance of Genome Resources, Mar 2025] |
SERPINA5 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012] |
SERPINA6 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008] |
SERPINA9 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 Enables serine-type endopeptidase inhibitor activity. Predicted to be located in cytoplasm; extracellular region; and membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
TMBIM6 Genetransmembrane BAX inhibitor motif containing 6 Enables endoribonuclease inhibitor activity and ubiquitin protein ligase binding activity. Involved in several processes, including negative regulation of intrinsic apoptotic signaling pathway; negative regulation of macromolecule metabolic process; and response to L-glutamate. Acts upstream of or within negative regulation of calcium ion transport into cytosol. Located in endoplasmic reticulum membrane. Biomarker of cervical squamous cell carcinoma and prostate carcinoma. [provided by Alliance of Genome Resources, Mar 2025] |
TMBIM4 Genetransmembrane BAX inhibitor motif containing 4 Predicted to enable calcium channel activity. Involved in negative regulation of apoptotic process and regulation of calcium-mediated signaling. Located in Golgi stack and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TMBIM1 Genetransmembrane BAX inhibitor motif containing 1 Enables death receptor binding activity. Involved in negative regulation of Fas signaling pathway; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; and negative regulation of protein localization to plasma membrane. Located in Golgi membrane; endosome membrane; and lysosomal membrane. [provided by Alliance of Genome Resources, Mar 2025] |
CDKN3 Genecyclin-dependent kinase inhibitor 3 The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several kinds of cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] |
ERICD GeneE2F1-regulated inhibitor of cell death (non-protein coding) |
SPINK9 Geneserine peptidase inhibitor, Kazal type 9 The protein encoded by this gene is a Kazal-type serine protease inhibitor that appears to specifically target kallikrein-related peptidase 5 (KLK5) in the palmo-plantar epidermis. KLK5 is an important initiator of skin desquamation, so the encoded protease inhibitor may regulate skin differentiation in the palms of hands and soles of feet. This cationic protein has also been shown to promote keratinocyte migration by activation of the epidermal growth factor receptor (EGFR). [provided by RefSeq, Dec 2015] |
SPINK8 Geneserine peptidase inhibitor, Kazal type 8 (putative) Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
LOC400026 Geneprotein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene |
KAZALD1 GeneKazal-type serine peptidase inhibitor domain 1 This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an insulin growth factor-binding domain in its N-terminal region, a Kazal-type serine protease inhibitor and follistatin-like domain in its central region, and an immunoglobulin-like domain in its C-terminal region. Studies of the mouse ortholog suggest that this protein may function in bone development and bone regeneration. This gene is hypomethylated and over-expressed in high-grade glioma compared to low-grade glioma, and thus the hypomethylated gene may be associated with cell proliferation and the shorter survival of patients with high-grade glioma. It is also one of numerous genes found to be deleted in a novel 5.54 Mb interstitial deletion, which is associated with multiple congenital anomalies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
IKBKAP Geneinhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] |
SERPINB11 Geneserpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in cytoplasm. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
SERPINB10 Geneserpin peptidase inhibitor, clade B (ovalbumin), member 10 This gene is a member of the serpin peptidase inhibitor, clade B family and is found in a cluster of other similar genes on chromosome 18. The protein encoded by this gene appears to help control the regulation of protease functions during hematopoiesis. Variations in this gene may increase the risk of prostate cancer. [provided by RefSeq, Dec 2015] |
SERPINB13 Geneserpin peptidase inhibitor, clade B (ovalbumin), member 13 The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017] |
SERPINB12 Geneserpin peptidase inhibitor, clade B (ovalbumin), member 12 Enables serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of protein catabolic process. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Mar 2025] |
DKK4 Genedickkopf WNT signaling pathway inhibitor 4 This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. Activity of this protein is modulated by binding to the Wnt co-receptor and the co-factor kremen 2. [provided by RefSeq, Jul 2008] |
DKK3 Genedickkopf WNT signaling pathway inhibitor 3 This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. The expression of this gene is decreased in a variety of cancer cell lines and it may function as a tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] |
IKBKG Geneinhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016] |
DBIL5P Genediazepam binding inhibitor-like 5, pseudogene |
SERPINA7P1 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 pseudogene 1 |
PRKRIR Geneprotein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) Predicted to enable several functions, including DNA binding activity; metal ion binding activity; and protein dimerization activity. Predicted to be involved in negative regulation of cell population proliferation and signal transduction. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
EID2B GeneEP300 interacting inhibitor of differentiation 2B Enables identical protein binding activity. Involved in negative regulation of DNA-templated transcription and negative regulation of myoblast differentiation. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
CIAPIN1P Genecytokine induced apoptosis inhibitor 1 pseudogene |
SERPIND1 Geneserpin peptidase inhibitor, clade D (heparin cofactor), member 1 This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015] |
PDCD4 Geneprogrammed cell death 4 (neoplastic transformation inhibitor) This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] |
SERPINB9P1 Geneserpin peptidase inhibitor, clade B (ovalbumin), member 9, pseudogene 1 |
GDI2P2 GeneGDP dissociation inhibitor 2 pseudogene 2 |
GDI2P1 GeneGDP dissociation inhibitor 2 pseudogene 1 |
AZIN2 Geneantizyme inhibitor 2 The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 2, the second member of this gene family. Like antizyme inhibitor 1, antizyme inhibitor 2 interacts with all 3 antizymes and stimulates ODC activity and polyamine uptake. However, unlike antizyme inhibitor 1, which is ubiquitously expressed and localized in the nucleus and cytoplasm, antizyme inhibitor 2 is predominantly expressed in the brain and testis and localized in the endoplasmic reticulum-golgi intermediate compartment. Recent studies indicate that antizyme inhibitor 2 is also expressed in specific cell types in ovaries, adrenal glands and pancreas, and in mast cells. The exact function of this gene is not known, however, available data suggest its role in cell growth, spermiogenesis, vesicular trafficking and secretion. Accumulation of antizyme inhibitor 2 has also been observed in brains of patients with Alzheimer's disease. There has been confusion in literature and databases over the nomenclature of this gene, stemming from an earlier report that a human cDNA clone (identical to ODCp/AZIN2) had arginine decarboxylase (ADC) activity (PMID:14738999). Subsequent studies in human and mouse showed that antizyme inhibitor 2 was devoid of arginine decarboxylase activity (PMID:19956990). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014] |
TIMP4 GeneTIMP metallopeptidase inhibitor 4 This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The secreted, netrin domain-containing protein encoded by this gene is involved in regulation of platelet aggregation and recruitment and may play role in hormonal regulation and endometrial tissue remodeling. [provided by RefSeq, Jul 2008] |
TIMP3 GeneTIMP metallopeptidase inhibitor 3 This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008] |
TIMP2 GeneTIMP metallopeptidase inhibitor 2 This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008] |
VTCN1 GeneV-set domain containing T cell activation inhibitor 1 This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
ID2B Geneinhibitor of DNA binding 2B, dominant negative helix-loop-helix protein (pseudogene) |
XIAP GeneX-linked inhibitor of apoptosis, E3 ubiquitin protein ligase This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011] |
LOC100131680 Gene52 kDa repressor of the inhibitor of the protein kinase-like |
PPP1R14BP5 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 5 |
LOC390760 Geneprotein phosphatase inhibitor 2-like |
PIAS2 Geneprotein inhibitor of activated STAT, 2 This gene encodes a member of the protein inhibitor of activated STAT family, which function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Isoforms of the encoded protein enhance the sumoylation of specific target proteins including the p53 tumor suppressor protein, c-Jun, and the androgen receptor. A pseudogene of this gene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. [provided by RefSeq, Aug 2017] |
PIAS3 Geneprotein inhibitor of activated STAT, 3 This gene encodes a member of the PIAS [protein inhibitor of activated STAT (signal transducer and activator of transcription)] family of transcriptional modulators. The protein functions as a SUMO (small ubiquitin-like modifier)-E3 ligase which catalyzes the covalent attachment of a SUMO protein to specific target substrates. It directly binds to several transcription factors and either blocks or enhances their activity. Alternatively spliced transcript variants of this gene have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] |
PIAS1 Geneprotein inhibitor of activated STAT, 1 This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. This protein plays a central role as a transcriptional coregulator of numerous cellular pathways includign the STAT1 and nuclear factor kappaB pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] |
PIAS4 Geneprotein inhibitor of activated STAT, 4 Enables SUMO ligase activity and ubiquitin protein ligase binding activity. Involved in negative regulation of protein localization to chromatin; protein sumoylation; and regulation of primary metabolic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
PPP1R14BP4 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 4 |
PPP1R14BP2 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 2 |
PPP1R14BP3 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 3 |
PPP1R14BP1 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 1 |
BAMBI GeneBMP and activin membrane-bound inhibitor This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008] |
CAMK2N2 Genecalcium/calmodulin-dependent protein kinase II inhibitor 2 This gene encodes a protein that is highly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII regulates numerous physiological functions, including neuronal synaptic plasticity through the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate (AMPA) receptors. Studies of the similar protein in rat suggest that this protein may function as a negative regulator of CaM-KII and may act to inhibit the phosphorylation of AMPA receptors. [provided by RefSeq, Jul 2008] |
CAMK2N1 Genecalcium/calmodulin-dependent protein kinase II inhibitor 1 Predicted to enable calcium-dependent protein kinase inhibitor activity and protein kinase binding activity. Predicted to be involved in long-term memory and positive regulation of inflammatory response. Predicted to be located in neuronal cell body and synapse. Implicated in ovarian cancer; ovarian carcinoma; and prostate adenocarcinoma. Biomarker of hepatocellular carcinoma; oral squamous cell carcinoma; papillary thyroid carcinoma; and prostate cancer. [provided by Alliance of Genome Resources, Mar 2025] |
SERPINC1 Geneserpin peptidase inhibitor, clade C (antithrombin), member 1 The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020] |
LOC391239 GeneV-set domain containing T cell activation inhibitor 1 pseudogene |
DKK2 Genedickkopf WNT signaling pathway inhibitor 2 This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. It can act as either an agonist or antagonist of Wnt/beta-catenin signaling, depending on the cellular context and the presence of the co-factor kremen 2. Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6). [provided by RefSeq, Jul 2008] |
SPINT2 Geneserine peptidase inhibitor, Kunitz type, 2 This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] |
SPINT1 Geneserine peptidase inhibitor, Kunitz type 1 The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
SPINT4 Geneserine peptidase inhibitor, Kunitz type 4 Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
DBI Genediazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate signal transduction at type A gamma-aminobutyric acid receptors located in brain synapses. The protein is conserved from yeast to mammals, with the most highly conserved domain consisting of seven contiguous residues that constitute the hydrophobic binding site for medium- and long-chain acyl-Coenzyme A esters. Diazepam binding inhibitor is also known to mediate the feedback regulation of pancreatic secretion and the postprandial release of cholecystokinin, in addition to its role as a mediator in corticotropin-dependent adrenal steroidogenesis. Three pseudogenes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] |
LOC105372412 Genephospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein-like |
MDFI GeneMyoD family inhibitor This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. [provided by RefSeq, Jul 2008] |
PRKRIRP8 Geneprotein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 8 |
PRKRIRP9 Geneprotein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 9 |
PRKRIRP1 Geneprotein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 1 |
PRKRIRP2 Geneprotein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 2 |
PRKRIRP3 Geneprotein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 3 |
PRKRIRP4 Geneprotein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 4 |
PRKRIRP5 Geneprotein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 5 |
PRKRIRP6 Geneprotein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 6 |
PRKRIRP7 Geneprotein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 7 |
IBTK Geneinhibitor of Bruton agammaglobulinemia tyrosine kinase Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] |
ITIH1 Geneinter-alpha-trypsin inhibitor heavy chain 1 This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015] |
ITIH3 Geneinter-alpha-trypsin inhibitor heavy chain 3 This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3. [provided by RefSeq, Jul 2015] |
ITIH2 Geneinter-alpha-trypsin inhibitor heavy chain 2 The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009] |
ITIH5 Geneinter-alpha-trypsin inhibitor heavy chain family, member 5 This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] |
ITIH4 Geneinter-alpha-trypsin inhibitor heavy chain family, member 4 The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] |
ITIH6 Geneinter-alpha-trypsin inhibitor heavy chain family, member 6 The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009] |
PSMF1 Geneproteasome (prosome, macropain) inhibitor subunit 1 (PI31) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] |
KLLN Genekillin, p53-regulated DNA replication inhibitor The protein encoded by this intronless gene is found in the nucleus, where it can inhibit DNA synthesis and promote S phase arrest coupled to apoptosis. The expression of this DNA binding protein is upregulated by transcription factor p53. [provided by RefSeq, Dec 2012] |
PPP1R1AP1 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 1 |
TRIAP1P1 GeneTP53 regulated inhibitor of apoptosis 1 pseudogene 1 |
API5 Geneapoptosis inhibitor 5 This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] |
PPP1R2 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 2 Protein phosphatase-1 (PP1) is one of the main eukaryotic serine/threonine phosphatases. The protein encoded by this gene binds to the catalytic subunit of PP1, strongly inhibiting its activity. Ten related pseudogenes have been found throughout the human genome. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] |
TCAIM GeneT cell activation inhibitor, mitochondrial Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
SPINK14 Geneserine peptidase inhibitor, Kazal type 14 (putative) Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
SPINK13 Geneserine peptidase inhibitor, Kazal type 13 (putative) Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of acrosome reaction. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100420509 GeneX-linked inhibitor of apoptosis, E3 ubiquitin protein ligase pseudogene |
CDKN1C Genecyclin-dependent kinase inhibitor 1C (p57, Kip2) This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] |
CDKN1B Genecyclin-dependent kinase inhibitor 1B (p27, Kip1) This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014] |
CDKN1A Genecyclin-dependent kinase inhibitor 1A (p21, Cip1) This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015] |
GMNN Genegeminin, DNA replication inhibitor This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011] |
SERPINA13P Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
CAAP1 Genecaspase activity and apoptosis inhibitor 1 Involved in negative regulation of cysteine-type endopeptidase activity. [provided by Alliance of Genome Resources, Mar 2025] |
IBTKP1 Geneinhibitor of Bruton agammaglobulinemia tyrosine kinase pseudogene 1 |
SERPINF1 Geneserpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016] |
SERPINF2 Geneserpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] |
MDFIC GeneMyoD family inhibitor domain containing This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] |
NFKBIL1 Genenuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] |
ARPIN Geneactin-related protein 2/3 complex inhibitor Involved in directional locomotion; negative regulation of cell migration; and negative regulation of cellular component organization. Predicted to be located in lamellipodium. [provided by Alliance of Genome Resources, Mar 2025] |
SPINT3 Geneserine peptidase inhibitor, Kunitz type, 3 Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
TFPI2 Genetissue factor pathway inhibitor 2 This gene encodes a member of the Kunitz-type serine proteinase inhibitor family. The protein can inhibit a variety of serine proteases including factor VIIa/tissue factor, factor Xa, plasmin, trypsin, chymotryspin and plasma kallikrein. This gene has been identified as a tumor suppressor gene in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] |
MEI1 Genemeiosis inhibitor 1 Predicted to be involved in meiosis I. Predicted to act upstream of or within germ cell development; meiotic nuclear division; and meiotic spindle organization. Implicated in gestational trophoblastic neoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100418682 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene |
LOC100418683 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene |
LOC100418684 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene |
AVEN Geneapoptosis, caspase activation inhibitor Involved in negative regulation of apoptotic process. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
CDKN2B Genecyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] |
CDKN2D Genecyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008] |
PPP1R1A Geneprotein phosphatase 1, regulatory (inhibitor) subunit 1A Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in intracellular signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
PPP1R1C Geneprotein phosphatase 1, regulatory (inhibitor) subunit 1C Protein phosphatase-1 (PP1) is a major serine/threonine phosphatase that regulates a variety of cellular functions. PP1 consists of a catalytic subunit (see PPP1CA; MIM 176875) and regulatory subunits that determine the subcellular localization of PP1 or regulate its function. PPP1R1C belongs to a group of PP1 inhibitory subunits that are themselves regulated by phosphorylation (Wang et al., 2008 [PubMed 18310074]).[supplied by OMIM, Feb 2010] |
PPP1R1B Geneprotein phosphatase 1, regulatory (inhibitor) subunit 1B This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] |
PPP1R11 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 11 This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6. [provided by RefSeq, Jul 2008] |
API5P1 Geneapoptosis inhibitor 5 pseudogene 1 |
OSGIN2 Geneoxidative stress induced growth inhibitor family member 2 Predicted to enable growth factor activity. Predicted to be involved in negative regulation of cell growth. [provided by Alliance of Genome Resources, Mar 2025] |
OSGIN1 Geneoxidative stress induced growth inhibitor 1 This gene encodes an oxidative stress response protein that regulates cell death. Expression of the gene is regulated by p53 and is induced by DNA damage. The protein regulates apoptosis by inducing cytochrome c release from mitochondria. It also appears to be a key regulator of both inflammatory and anti-inflammatory molecules. The loss of this protein correlates with uncontrolled cell growth and tumor formation. Naturally occurring read-through transcription exists between this gene and the neighboring upstream malonyl-CoA decarboxylase (MLYCD) gene, but the read-through transcripts are unlikely to produce a protein product. [provided by RefSeq, Aug 2011] |
EPPIN Geneepididymal peptidase inhibitor This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. The protein can inhibit human sperm motility and exhibits antimicrobial activity against E. coli, and polymorphisms in this gene are associated with male infertility. Read-through transcription also exists between this gene and the downstream WFDC6 (WAP four-disulfide core domain 6) gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] |
PPP1R2P3 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in intracellular signal transduction. [provided by Alliance of Genome Resources, Mar 2025] |
ISM1 Geneisthmin 1, angiogenesis inhibitor Predicted to be involved in negative regulation of angiogenesis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
SPINK7 Geneserine peptidase inhibitor, Kazal type 7 (putative) Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to act upstream of or within inflammatory response and negative regulation of cytokine production involved in inflammatory response. Predicted to be located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
SPINK6 Geneserine peptidase inhibitor, Kazal type 6 The protein encoded by this gene is a Kazal-type serine protease inhibitor that acts on kallikrein-related peptidases in the skin. Two transcript variants the same protein have been found for this gene. [provided by RefSeq, Aug 2010] |
SPINK5 Geneserine peptidase inhibitor, Kazal type 5 This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] |
SPINK4 Geneserine peptidase inhibitor, Kazal type 4 Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
SPINK1 Geneserine peptidase inhibitor, Kazal type 1 The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008] |
LOC100133127 Genegeminin, DNA replication inhibitor pseudogene 1 |
IKBKB Geneinhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Sep 2011] |
IKBKE Geneinhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon IKBKE is a noncanonical I-kappa-B (see MIM 164008) kinase (IKK) that is essential for regulating antiviral signaling pathways. IKBKE has also been identified as a breast cancer (MIM 114480) oncogene and is amplified and overexpressed in over 30% of breast carcinomas and breast cancer cell lines (Hutti et al., 2009 [PubMed 19481526]).[supplied by OMIM, Oct 2009] |
SERPINA12 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 Enables molecular function inhibitor activity. Predicted to act upstream of or within negative regulation of gluconeogenesis; positive regulation of signal transduction; and regulation of lipid metabolic process. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
SERPINA10 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 The protein encoded by this gene belongs to the serpin family. It is predominantly expressed in the liver and secreted in plasma. It inhibits the activity of coagulation factors Xa and XIa in the presence of protein Z, calcium and phospholipid. Mutations in this gene are associated with venous thrombosis. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2010] |
SERPINA11 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
PI16 Genepeptidase inhibitor 16 Predicted to enable peptidase inhibitor activity. Predicted to act upstream of or within negative regulation of cell growth involved in cardiac muscle cell development. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
PI15 Genepeptidase inhibitor 15 This gene encodes a trypsin inhibitor. The protein shares similarity to insect venom allergens, mammalian testis-specific proteins and plant pathogenesis-related proteins. It is frequently expressed in human neuroblastoma and glioblastoma cell lines, and thus may play a role in the central nervous system. [provided by RefSeq, Jul 2008] |
RNH1 Generibonuclease/angiogenin inhibitor 1 Placental ribonuclease inhibitor (PRI) is a member of a family of proteinaceous cytoplasmic RNase inhibitors that occur in many tissues and bind to both intracellular and extracellular RNases (summarized by Lee et al., 1988 [PubMed 3219362]). In addition to control of intracellular RNases, the inhibitor may have a role in the regulation of angiogenin (MIM 105850). Ribonuclease inhibitor, of 50,000 Da, binds to ribonucleases and holds them in a latent form. Since neutral and alkaline ribonucleases probably play a critical role in the turnover of RNA in eukaryotic cells, RNH may be essential for control of mRNA turnover; the interaction of eukaryotic cells with ribonuclease may be reversible in vivo.[supplied by OMIM, Jul 2010] |
DBIP2 Genediazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 2 |
DBIP3 Genediazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 3 |
DBIP1 Genediazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 1 |
TRIAP1 GeneTP53 regulated inhibitor of apoptosis 1 Enables p53 binding activity. Contributes to phosphatidic acid transfer activity. Involved in several processes, including DNA damage response, signal transduction by p53 class mediator; negative regulation of apoptotic signaling pathway; and positive regulation of phospholipid transport. Located in mitochondrial intermembrane space and nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100128413 GeneX-linked inhibitor of apoptosis, E3 ubiquitin protein ligase pseudogene |
SERPINH1 Geneserpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011] |
ARHGDIG GeneRho GDP dissociation inhibitor (GDI) gamma The GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activation of GTPases by inhibiting the exchange of GDP for GTP. See ARHGDIB (MIM 602843).[supplied by OMIM, Nov 2010] |
ARHGDIB GeneRho GDP dissociation inhibitor (GDI) beta Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between the GTP-bound and GDP-bound states: GTPase-activating proteins (GAPs), guanine nucleotide-releasing factors (GRFs), and GDP-dissociation inhibitors (GDIs). The GDIs, including ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010] |
ARHGDIA GeneRho GDP dissociation inhibitor (GDI) alpha This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] |
PPP1R2P1 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 1 Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in intracellular signal transduction. [provided by Alliance of Genome Resources, Mar 2025] |
PPP1R2P2 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 2 |
PPP1R2P5 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 5 |
PPP1R2P4 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 4 |
PPP1R2P6 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 6 |
PPP1R2P9 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 9 Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in intracellular signal transduction. [provided by Alliance of Genome Resources, Mar 2025] |
PPP1R2P8 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 8 |
PTGFRN Geneprostaglandin F2 receptor inhibitor Predicted to be involved in myoblast fusion involved in skeletal muscle regeneration. Predicted to act upstream of or within lipid droplet organization. Located in cell surface. [provided by Alliance of Genome Resources, Mar 2025] |
AGT Geneangiotensinogen (serpin peptidase inhibitor, clade A, member 8) The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure, body fluid and electrolyte homeostasis, and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Nov 2019] |
LOC390600 Genecytokine induced apoptosis inhibitor 1 pseudogene |
SPINT5P Geneserine peptidase inhibitor, Kunitz type 5, pseudogene |
SLPI Genesecretory leukocyte peptidase inhibitor This gene encodes a secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, and has affinity for trypsin, leukocyte elastase, and cathepsin G. Its inhibitory effect contributes to the immune response by protecting epithelial surfaces from attack by endogenous proteolytic enzymes. This antimicrobial protein has antibacterial, antifungal and antiviral activity. [provided by RefSeq, Nov 2014] |
CIAPIN1 Genecytokine induced apoptosis inhibitor 1 CIAPIN1 is a cytokine-induced inhibitor of apoptosis with no relation to apoptosis regulatory molecules of the BCL2 (MIM 151430) or CASP (see MIM 147678) families. Expression of CIAPIN1 is dependent on growth factor stimulation (Shibayama et al., 2004 [PubMed 14970183]).[supplied by OMIM, Mar 2008] |
INGX Geneinhibitor of growth family, X-linked, pseudogene |
ING4 Geneinhibitor of growth family, member 4 This gene encodes a tumor suppressor protein that contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This protein can bind TP53 and EP300/p300, a component of the histone acetyl transferase complex, suggesting its involvement in the TP53-dependent regulatory pathway. Multiple alternatively spliced transcript variants have been observed that encode distinct proteins. [provided by RefSeq, Jul 2008] |
ING5 Geneinhibitor of growth family, member 5 This gene encodes a tumor suppressor protein that inhibits cell growth and induces apoptosis. This protein contains a PHD-type zinc finger. It interacts with tumor suppressor p53 and p300, a component of the histone acetyl transferase complex, suggesting a role in transcriptional regulation. Alternative splicing and the use of multiple promoters and 3' terminal exons results in multiple transcript variants. [provided by RefSeq, Aug 2016] |
ING1 Geneinhibitor of growth family, member 1 This gene encodes a tumor suppressor protein that can induce cell growth arrest and apoptosis. The encoded protein is a nuclear protein that physically interacts with the tumor suppressor protein TP53 and is a component of the p53 signaling pathway. Reduced expression and rearrangement of this gene have been detected in various cancers. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] |
ING2 Geneinhibitor of growth family, member 2 This gene is a member of the inhibitor of growth (ING) family. Members of the ING family associate with and modulate the activity of histone acetyltransferase (HAT) and histone deacetylase (HDAC) complexes and function in DNA repair and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] |
ING3 Geneinhibitor of growth family, member 3 The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This gene can activate p53 trans-activated promoters, including promoters of p21/waf1 and bax. Overexpression of this gene has been shown to inhibit cell growth and induce apoptosis. Allelic loss and reduced expression of this gene were detected in head and neck cancers. Two alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2008] |
RERG GeneRAS-like, estrogen-regulated, growth inhibitor RERG, a member of the RAS superfamily of GTPases, inhibits cell proliferation and tumor formation (Finlin et al., 2001 [PubMed 11533059]).[supplied by OMIM, Mar 2009] |
SYVN1 Genesynovial apoptosis inhibitor 1, synoviolin This gene encodes a protein involved in endoplasmic reticulum (ER)-associated degradation. The encoded protein removes unfolded proteins, accumulated during ER stress, by retrograde transport to the cytosol from the ER. This protein also uses the ubiquitin-proteasome system for additional degradation of unfolded proteins. Sequence analysis identified two transcript variants that encode different isoforms. [provided by RefSeq, May 2011] |
ERRFI1 GeneERBB receptor feedback inhibitor 1 ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is induced during cell stress and mediates cell signaling (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM, Mar 2008] |
PPP1R11P2 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 11 pseudogene 2 |
PPP1R11P1 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 11 pseudogene 1 |
EID2 GeneEP300 interacting inhibitor of differentiation 2 Enables SMAD binding activity. Involved in several processes, including negative regulation of transcription by RNA polymerase II; negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and transforming growth factor beta receptor complex assembly. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
EID3 GeneEP300 interacting inhibitor of differentiation 3 Predicted to be involved in DNA repair. Located in nucleolus and nucleoplasm. Part of Smc5-Smc6 complex. [provided by Alliance of Genome Resources, Mar 2025] |
EID1 GeneEP300 interacting inhibitor of differentiation 1 Enables histone acetyltransferase binding activity. Involved in cell differentiation and negative regulation of DNA-templated transcription. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in cytoplasmic ribonucleoprotein granule and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100533853 Geneprotein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene |
CDKN2C Genecyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008] |
CDKN2A Genecyclin-dependent kinase inhibitor 2A This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012] |
CRIPAK Genecysteine-rich PAK1 inhibitor CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008] |
ID4 Geneinhibitor of DNA binding 4, dominant negative helix-loop-helix protein This gene encodes a member of the inhibitor of DNA binding (ID) protein family. The encoded protein lacks DNA binding ability, and instead regulates gene expression through binding to and inhibiting basic helix-loop-helix transcription factors. This protein has been implicated in the regulation of diverse cellular processes that play a role in development and tumorigenesis. [provided by RefSeq, Aug 2017] |
ID2 Geneinhibitor of DNA binding 2, dominant negative helix-loop-helix protein The protein encoded by this gene belongs to the inhibitor of DNA binding family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the inhibitor of DNA binding family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-negative manner by suppressing their heterodimerization partners through the HLH domains. This protein may play a role in negatively regulating cell differentiation. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Aug 2011] |
ID3 Geneinhibitor of DNA binding 3, dominant negative helix-loop-helix protein The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with other HLH proteins. However, the encoded protein lacks a basic DNA-binding domain and therefore inhibits the DNA binding of any HLH protein with which it interacts. [provided by RefSeq, Aug 2011] |
ID1 Geneinhibitor of DNA binding 1, dominant negative helix-loop-helix protein The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
LOC100128588 GenePIN2/TERF1 interacting, telomerase inhibitor 1 pseudogene |
LOC105375396 Genebax inhibitor 1-like |
SERPINA15P Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 15, pseudogene |
NFKBIA Genenuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011] |
HIF1AN Genehypoxia inducible factor 1, alpha subunit inhibitor Enables several functions, including 2-oxoglutarate-dependent dioxygenase activity; NF-kappaB binding activity; and transition metal ion binding activity. Involved in negative regulation of Notch signaling pathway and positive regulation of myoblast differentiation. Located in cytosol; nucleoplasm; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
PINLYP Genephospholipase A2 inhibitor and LY6/PLAUR domain containing Predicted to enable phospholipase inhibitor activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
PCSK1N Geneproprotein convertase subtilisin/kexin type 1 inhibitor The protein encoded by this gene functions as an inhibitor of prohormone convertase 1, which regulates the proteolytic cleavage of neuroendocrine peptide precursors. The proprotein is further processed into multiple short peptides. A polymorphism within this gene may be associated with obesity. [provided by RefSeq, Aug 2013] |
LOC100133137 Genegeminin, DNA replication inhibitor pseudogene 2 |
SERPINA1 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020] |
SERPINA7 Geneserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq, Jun 2012] |
PPP1R2P10 Geneprotein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 10 |
LOC100533708 Geneprotein inhibitor of activated STAT, 2 pseudogene |
LOC100132831 GeneA20-binding inhibitor of NF-kappaB activation 2 pseudogene |
DBIL5P2 Genediazepam binding inhibitor-like 5 pseudogene 2 |
PRKRIRP10 Geneprotein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 10 |
IKBKGP1 Geneinhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma pseudogene 1 |
API5P2 Geneapoptosis inhibitor 5 pseudogene 2 |
CIP2A Genecellular inhibitor of PP2A Enables protein homodimerization activity and protein phosphatase inhibitor activity. Involved in broken chromosome clustering. Located in cytosol and plasma membrane. Is active in chromosome. [provided by Alliance of Genome Resources, Mar 2025] |
SHFL Geneshiftless antiviral inhibitor of ribosomal frameshifting This gene is an interferon stimulated gene (ISG) that inhibits viral replication. The encoded protein binds nucleic acids and inhibits programmed -1 ribosomal frameshifting required for translation by many RNA viruses. Viruses inhibited by the protein include Zika virus, dengue virus and the coronaviruses, SARS-CoV and SARS-CoV2. [provided by RefSeq, Aug 2021] |
TMBIM7P Genetransmembrane BAX inhibitor motif containing 7, pseudogene |
AKAIN1 GeneA-kinase anchor inhibitor 1 Enables protein kinase A binding activity. Involved in protein localization. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025] |
MDFIC2 GeneMyoD family inhibitor domain containing 2 Predicted to be involved in negative regulation of DNA-templated transcription; regulation of JNK cascade; and regulation of Wnt signaling pathway. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
GIHCG GeneGIHCG inhibitor of miR-200b/200a/429 expression |