Harmonizome 3.0

pancreatic and duodenal homeobox 1

The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]

pancreatic lipase

This gene encodes a member of the lipase family of proteins. The encoded enzyme is secreted by the pancreas and hydrolyzes triglycerides in the small intestine, and is essential for the efficient digestion of dietary fats. Inhibition of the encoded enzyme may prevent high-fat diet-induced obesity in mice and result in weight loss in human patients with obesity. Mutations in this gene cause congenital pancreatic lipase deficiency, a rare disorder characterized by steatorrhea. [provided by RefSeq, Jul 2016]

carboxypeptidase A1 (pancreatic)

This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino acids from dietary proteins. This gene and several family members are present in a gene cluster on chromosome 7. Mutations in this gene may be linked to chronic pancreatitis, while elevated protein levels may be associated with pancreatic cancer. [provided by RefSeq, Jan 2015]

carboxypeptidase A2 (pancreatic)

Three different forms of human pancreatic procarboxypeptidase A have been isolated. The encoded protein represents the A2 form, which is a monomeric protein with different biochemical properties from the A1 and A3 forms. The A2 form of pancreatic procarboxypeptidase acts on aromatic C-terminal residues and is a secreted protein. [provided by RefSeq, Dec 2008]

pancreatic lipase pseudogene 1

colipase, pancreatic

The protein encoded by this gene is a cofactor needed by pancreatic lipase for efficient dietary lipid hydrolysis. It binds to the C-terminal, non-catalytic domain of lipase, thereby stabilizing an active conformation and considerably increasing the overall hydrophobic binding site. The gene product allows lipase to anchor noncovalently to the surface of lipid micelles, counteracting the destabilizing influence of intestinal bile salts. This cofactor is only expressed in pancreatic acinar cells, suggesting regulation of expression by tissue-specific elements. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

pancreatic progenitor cell differentiation and proliferation factor

Predicted to be involved in cell differentiation. Predicted to act upstream of or within TORC1 signaling and liver development. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

pancreatic polypeptide

This gene encodes a member of the neuropeptide Y (NPY) family of peptides. The encoded 95 aa preproprotein is synthesized in the pancreatic islets of Langerhans and proteolytically processed to generate two peptide products. These products include the active pancreatic hormone of 36 aa and an icosapeptide of unknown function. This hormone acts as a regulator of pancreatic and gastrointestinal functions and may be important in the regulation of food intake. Plasma level of this hormone has been shown to be reduced in conditions associated with increased food intake and elevated in anorexia nervosa. In addition, infusion of this hormone in obese rodents has shown to decrease weight gain. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

pancreatic beta cell glycoprotein 1

ribonuclease, RNase A family, 1 (pancreatic)

This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2',3'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)

This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008]

pancreatic polypeptide 2, pseudogene

amylase, alpha 2A (pancreatic)

This gene encodes a member of the alpha-amylase family of proteins. Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, catalyzing the first step in digestion of dietary starch and glycogen. This gene and several family members are present in a gene cluster on chromosome 1. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jan 2015]

amylase, alpha 2B (pancreatic)

Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jun 2013]

Pancreatic beta cell, agenesis of

pancreatic lipase-related protein 1

Predicted to enable calcium ion binding activity. Predicted to be involved in lipid catabolic process. Predicted to be located in extracellular region. Biomarker of prostate cancer. [provided by Alliance of Genome Resources, Mar 2025]

pancreatic lipase-related protein 3

Predicted to enable triacylglycerol lipase activity. Predicted to be involved in lipid catabolic process. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

pancreatic lipase-related protein 2

This gene encodes a lipase that hydrolyzes galactolipids, the main components of plant membrane lipids. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele. [provided by RefSeq, Aug 2015]

pancreatic progenitor cell differentiation and proliferation factor like

Predicted to be involved in cell differentiation. [provided by Alliance of Genome Resources, Mar 2025]

Nonmedullary thyroid carcinoma 1

Papillary thyroid carcinoma with papillary renal neoplasia

hepatocellular carcinoma-associated antigen HCA25a

hepatocellular carcinoma up-regulated EZH2-associated long non-coding RNA

Biomarker of esophagus squamous cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 19

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 18

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 17

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 16

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 15

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 14

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 13

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 12

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 11

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 10

breast carcinoma amplified sequence 2 pseudogene 2

breast carcinoma amplified sequence 2 pseudogene 3

breast carcinoma amplified sequence 2 pseudogene 1

thyroid carcinoma, Hurthle cell

Basal cell carcinoma, susceptibility to, 5

nasopharyngeal carcinoma, down-regulated 1

NUT midline carcinoma, family member 1

Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

Basal cell carcinoma, susceptibility to, 6

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 9

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 8

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 7

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 6

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 5

Predicted to enable protein dimerization activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 4

Predicted to enable protein dimerization activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 3

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 2

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 1

breast carcinoma amplified sequence 4

Predicted to be located in cytoplasm. Predicted to be part of BLOC-1 complex. [provided by Alliance of Genome Resources, Mar 2025]

breast carcinoma amplified sequence 2

Involved in mRNA splicing, via spliceosome. Located in DNA replication factor A complex; centrosome; and nuclear speck. Part of Prp19 complex and U2-type catalytic step 2 spliceosome. Implicated in breast cancer. [provided by Alliance of Genome Resources, Mar 2025]

breast carcinoma amplified sequence 3

Enables several functions, including acetyltransferase activator activity; beta-tubulin binding activity; and histone acetyltransferase binding activity. Involved in cellular response to estrogen stimulus; positive regulation of catalytic activity; and positive regulation of transcription by RNA polymerase II. Located in euchromatin; nucleus; and phagophore assembly site. Implicated in Hengel-Maroofian-Schols syndrome. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Mar 2025]

breast carcinoma amplified sequence 1

This gene resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene is a candidate oncogene. [provided by RefSeq, Apr 2016]

gastric carcinoma proliferation enhancing transcript 1

This gene encodes an unspliced long non-coding RNA that has been suggested to promote the proliferation of gastric carcinoma cells and bladder cancer cells. [provided by RefSeq, Dec 2014]

v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of inner ear auditory receptor cell differentiation. Located in chromosome and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

hepatocellular carcinoma, down-regulated 1

This gene is expressed predominantly in the liver. Transient transfection studies show the expression of this gene significantly inhibits cell growth, suggesting a role for this gene in apoptosis. Expression of this gene is down-regulated or lost in hepatocellular carcinomas (HCC), suggesting that loss of this gene is involved in carcinogenesis of hepatocytes (PMID:12971969). This gene maps to the 3'-noncoding region of the HEPACAM gene (GeneID:220296) on the antisense strand. [provided by RefSeq, Aug 2020]

Nasopharyngeal carcinoma, susceptibility to, 2

Nasopharyngeal carcinoma 1

Thyroid carcinoma, nonmedullary, with cell oxyphilia

papillary renal cell carcinoma (translocation-associated)

This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010]

disrupted in renal carcinoma 1

Disruption of DIRC1 by translocation is associated with familial clear cell renal cancer. Overexpression of DIRC1 is associated with tumor progression and poor prognosis in gastric cancer. [provided by RefSeq, Mar 2019]

disrupted in renal carcinoma 3

disrupted in renal carcinoma 2

This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]

papillary thyroid carcinoma susceptibility candidate 1 (non-protein coding)

papillary thyroid carcinoma susceptibility candidate 3 (non-protein coding)

Anal canal carcinoma

Mahlavu hepatocellular carcinoma

This gene is unusual in that it is mostly made up of L1 repeat elements. However, there is a study suggesting that this gene is transcribed and translated, and that it has oncogenic transforming activity when transfected into rat liver cells and NIH3T3 fibroblasts. [provided by RefSeq, Feb 2009]

Basal cell carcinoma, susceptibility to, 4

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 22

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 20

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 21

squamous cell carcinoma antigen recognized by T cells

This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008]

hepatocellular carcinoma up-regulated long non-coding RNA

This gene produces a long RNA that was discovered as upregulated in hepatocellular carcinoma and is associated with cancer progression. Expression of this transcript is regulated by microRNAs and at the transcriptional level by Sp1 family factors. The transcript may regulate gene expression by functioning as a competing RNA for microRNAs. [provided by RefSeq, Dec 2017]

Basal cell carcinoma, susceptibility to, 1

Basal cell carcinoma, susceptibility to, 2

Basal cell carcinoma, susceptibility to, 3

suppression of tumorigenicity 14 (colon carcinoma)

The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [provided by RefSeq, Jul 2008]

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)

The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]

immature colon carcinoma transcript 1

The protein encoded by this gene is a peptidyl-tRNA hydrolase and a vital component of the large mitochondrial ribosome. The encoded protein serves as a ribosome release factor for this ribosome, which translates mitochondrial genes. This protein may be responsible for degrading prematurely-terminated polypeptides and for reusing stalled ribosomes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

hepatocellular carcinoma-related HCRP1

papillary thyroid carcinoma susceptibility candidate 2 (non-protein coding)

squamous cell carcinoma antigen recognized by T cells 3

The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008]

hepatocellular carcinoma associated transcript 5 (non-protein coding)

lung carcinoma-associated 10

cervical carcinoma high-expressed lncRNA 1

p53 regulated carcinoma associated Stat3 activating long intergenic non-protein coding transcript

hepatocellular carcinoma ferroptosis associative lncRNA

P38 inhibited cutaneous squamous cell carcinoma associated lincRNA