Name

ALK Gene

anaplastic lymphoma receptor tyrosine kinase

This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]

ALKAL1 Gene

ALK and LTK ligand 1

Enables protein tyrosine kinase activator activity and signaling receptor binding activity. Involved in cell surface receptor protein tyrosine kinase signaling pathway; positive regulation of MAPK cascade; and positive regulation of neuron projection development. Is active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

ALKAL2 Gene

ALK and LTK ligand 2

Enables protein tyrosine kinase activator activity and signaling receptor binding activity. Involved in cell surface receptor protein tyrosine kinase signaling pathway; positive regulation of MAPK cascade; and positive regulation of neuron projection development. Is active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

DDX39AP1 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A pseudogene 1

DDX18P4 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 4

DDX18P3 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 3

DDX25 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 25

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The encoded protein is a gonadotropin-regulated and developmentally expressed testicular RNA helicase. It may serve to maintain testicular functions related to steroidogenesis and spermatogenesis. [provided by RefSeq, Jul 2008]

DDX24 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 24

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which shows little similarity to any of the other known human DEAD box proteins, but shows a high similarity to mouse Ddx24 at the amino acid level. [provided by RefSeq, Jul 2008]

DDX12P Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene

Predicted to enable DNA helicase activity. Predicted to be involved in DNA duplex unwinding and establishment of sister chromatid cohesion. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

DDX55P1 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 pseudogene 1

DDX3P1 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, pseudogene 1

DDX3P3 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, pseudogene 3

LOC390255 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B pseudogene

DDX18P5 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 5

DDX18P6 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 6

DDX18P1 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 1

DDX18P2 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 2

LOC100131736 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene

LOC100421309 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 25 pseudogene

DDX60 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 60

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular procsses involving RNA binding and alteration of RNA secondary structure. This gene encodes a DEXD/H box RNA helicase that functions as an antiviral factor and promotes RIG-I-like receptor-mediated signaling. [provided by RefSeq, Apr 2017]

DDX43P1 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 pseudogene 1

DDX43P2 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 pseudogene 2

LOC100421344 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 pseudogene

LOC100421343 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B pseudogene

LOC100533921 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene

LOC100533920 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene

LOC100533922 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene

LOC100418594 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene

DDX4 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 4

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

DDX5 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 5

This gene encodes a member of the DEAD box family of RNA helicases that are involved in a variety of cellular processes as a result of its role as an adaptor molecule, promoting interactions with a large number of other factors. This protein is involved in pathways that include the alteration of RNA structures, plays a role as a coregulator of transcription, a regulator of splicing, and in the processing of small noncoding RNAs. Members of this family contain nine conserved motifs, including the conserved Asp-Glu-Ala-Asp (DEAD) motif, important to ATP binding and hydrolysis as well as RNA binding and unwinding activities. Dysregulation of this gene may play a role in cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2017]

DDX6 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 6

This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012]

DDX1 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 1

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that acts as an ATP-dependent RNA helicase that has been found to promote coronaviruses replication. [provided by RefSeq, Aug 2021]

DDX39B Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B

This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene. [provided by RefSeq, Feb 2011]

DDX39A Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A

This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is thought to play a role in the prognosis of patients with gastrointestinal stromal tumors. A pseudogene of this gene is present on chromosome 13. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]

LOC100533919 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene

DDX10 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 10

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008]

LOC100533918 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene

DDX58 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 58

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of the antiviral innate immune response. Mutations in this gene are associated with Singleton-Merten syndrome 2. [provided by RefSeq, Aug 2020]

DDX59 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 59

Predicted to enable RNA helicase activity and mRNA binding activity. Predicted to be involved in chromatin looping and chromatin remodeling. Predicted to be located in cytoplasm; membrane; and nucleus. Implicated in orofaciodigital syndrome V. [provided by Alliance of Genome Resources, Mar 2025]

DDX52 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 52

Enables RNA binding activity. Predicted to be involved in maturation of SSU-rRNA. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

DDX50 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 50

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008]

DDX51 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 51

Enables RNA binding activity. Predicted to be involved in chromatin looping; chromatin remodeling; and rRNA processing. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

DDX56 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 56

This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene shows ATPase activity in the presence of polynucleotides and associates with nucleoplasmic 65S preribosomal particles. This gene may be involved in ribosome synthesis, most likely during assembly of the large 60S ribosomal subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]

DDX55 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 55

This gene encodes a member of protein family containing a characteristic Asp-Glu-Ala-Asp (DEAD) motif. These proteins are putative RNA helicases, and may be involved in a range of nuclear processes including translational initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Multiple alternatively spliced transcript variants have been found for this gene. Pseudogenes have been identified on chromosomes 1 and 12. [provided by RefSeq, Feb 2016]

DDX53 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 53

This intronless gene encodes a protein which contains several domains found in members of the DEAD-box helicase protein family. Other members of this protein family participate in ATP-dependent RNA unwinding. [provided by RefSeq, Sep 2011]

DDX54 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 54

This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DDX23 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 23

This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]

DDX21 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 21

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. [provided by RefSeq, Jul 2008]

DDX20 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 20

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]

DDX27 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 27

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein involved in the processing of 5.8S and 28S ribosomal RNAs. More specifically, the encoded protein localizes to the nucleolus, where it interacts with the PeBoW complex to ensure proper 3' end formation of 47S rRNA. [provided by RefSeq, Jan 2017]

DDX28 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 28

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is intronless. It encodes an RNA-dependent ATPase. The encoded protein is localized in the mitochondria and the nucleus, and can be transported between the mitochondria and the nucleus. [provided by RefSeq, Jul 2008]

DDX6P1 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene 1

DDX6P2 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene 2

DDX41 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 41

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017]

DDX42 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 42

This gene encodes a member of the Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

DHX57 Gene

DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57

Enables RNA binding activity. Predicted to be involved in chromatin looping and chromatin remodeling. [provided by Alliance of Genome Resources, Mar 2025]

DDX20P1 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 pseudogene 1

DDX10P1 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 pseudogene 1

DDX10P2 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 pseudogene 2

DDX49 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 49

Enables RNA helicase activity. Involved in positive regulation of cell growth and regulation of rRNA stability. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

DDX43 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 43

The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008]

DDX47 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 47

This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene can shuttle between the nucleus and the cytoplasm, and has an RNA-independent ATPase activity. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DDX46 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 46

This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]

DDX60L Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like

This gene encodes a member of the DExD/H-box helicase family of proteins, a subset of the super family 2 helicases. Members of the DExD/H-box helicase family share a conserved functional core comprised of two RecA-like globular domains. These domains contain conserved motifs that mediate ATP binding, ATP hydrolysis, nucleic acid binding, and RNA unwinding. In addition to functions in RNA metabolism, members of this family are involved in anti-viral immunity and act as cytosolic sensors of viral nucleic acids. The protein encoded by this gene has been shown to inhibit hepatitis C virus replication in response to interferon stimulation in cell culture. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

DDX19A Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A

Predicted to enable RNA helicase activity and mRNA binding activity. Predicted to be involved in poly(A)+ mRNA export from nucleus. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

DDX19B Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC100421238 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 5 pseudogene

DDX50P1 Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 50 pseudogene 1

DDX50P2 Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 50 pseudogene 2

LOC100418592 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene

LOC100418593 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene

LOC100418595 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene

LOC100418596 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene

LOC100533716 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 pseudogene

DDX11L9 Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9

DDX11L8 Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 8

Predicted to enable DNA helicase activity. Predicted to be involved in DNA duplex unwinding and establishment of sister chromatid cohesion. Predicted to be located in nucleolus. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

DDX11L1 Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1

DDX11L3 Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 3

DDX11L2 Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 2

Predicted to enable several functions, including ATP binding activity; helicase activity; and hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides. Predicted to be involved in nucleobase-containing compound metabolic process. [provided by Alliance of Genome Resources, Mar 2025]

DDX11L5 Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5

DDX11L4 Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 4

DDX39BP2 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B pseudogene 2

DDX39BP1 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B pseudogene 1

DDX17 Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 17

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and splicesosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an ATPase activated by a variety of RNA species, but not by dsDNA. This protein, and that encoded by DDX5 gene, are more closely related to each other than to any other member of the DEAD box family. This gene can encode multiple isoforms due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) start codon. [provided by RefSeq, Apr 2011]

DDX11 Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

DDX18 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 18

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it is activated by Myc protein. [provided by RefSeq, Jul 2008]

DDX31 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 31

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2016]

DDX3X Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked

The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

DDX3Y Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked

The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

DDX3P2 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, pseudogene 2

DDX26B Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B

Predicted to be involved in snRNA 3'-end processing. Predicted to be part of integrator complex. [provided by Alliance of Genome Resources, Mar 2025]

LOC642846 Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like

LOC400036 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 pseudogene

DDX11L16 Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 16

DDX11L11 Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 11

DDX11L10 Gene

DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 10

KDELC1P1 Gene

KDEL (Lys-Asp-Glu-Leu) containing 1 pseudogene 1

TRD-GTC6-1 Gene

transfer RNA-Asp (GTC) 6-1

CITED1 Gene

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1

This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

CITED4 Gene

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4

The protein encoded by this intronless gene belongs to the CITED family of transcriptional coactivators that bind to several proteins, including CREB-binding protein (CBP) and p300, via a conserved 32 aa C-terminal motif, and regulate gene transcription. This protein also interacts with transcription factor AP2 (TFAP2), and thus may function as a co-activator for TFAP2. Hypermethylation and transcriptional downregulation of this gene has been observed in oligodendroglial tumors with deletions of chromosomal arms 1p and 19q, and associated with longer recurrence-free and overall survival of patients with oligodendroglial tumors. [provided by RefSeq, Aug 2011]

DHX29 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 29

This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein functions in translation initiation, and is specifically required for ribosomal scanning across stable mRNA secondary structures during initiation codon selection. This protein may also play a role in sensing virally derived cytosolic nucleic acids. Knockdown of this gene results in reduced protein translation and impaired proliferation of cancer cells. [provided by RefSeq, Sep 2016]

DHX40 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 40

This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Oct 2009]

LOC647132 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 29 pseudogene

DHX16 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 16

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2018]

DHX15 Gene

DEAH (Asp-Glu-Ala-His) box helicase 15

The protein encoded by this gene is a putative ATP-dependent RNA helicase implicated in pre-mRNA splicing. [provided by RefSeq, Jul 2008]

LOC100421303 Gene

DEAH (Asp-Glu-Ala-His) box helicase 9 pseudogene

TRD-GTC2-10 Gene

transfer RNA-Asp (GTC) 2-10

TRD-GTC2-11 Gene

transfer RNA-Asp (GTC) 2-11

DHX8 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 8

This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

DHX9 Gene

DEAH (Asp-Glu-Ala-His) box helicase 9

This gene encodes a member of the DEAH-containing family of RNA helicases. The encoded protein is an enzyme that catalyzes the ATP-dependent unwinding of double-stranded RNA and DNA-RNA complexes. This protein localizes to both the nucleus and the cytoplasm and functions as a transcriptional regulator. This protein may also be involved in the expression and nuclear export of retroviral RNAs. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 11 and 13.[provided by RefSeq, Feb 2010]

CITED2 Gene

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2

The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

TRD-GTC2-6 Gene

transfer RNA-Asp (GTC) 2-6

TRD-GTC2-7 Gene

transfer RNA-Asp (GTC) 2-7

TRD-GTC2-2 Gene

transfer RNA-Asp (GTC) 2-2

TRD-GTC2-3 Gene

transfer RNA-Asp (GTC) 2-3

TRD-GTC2-8 Gene

transfer RNA-Asp (GTC) 2-8

KDELC1 Gene

KDEL (Lys-Asp-Glu-Leu) containing 1

This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. This gene has multiple transcript variants which are predicted to encode distinct isoforms. [provided by RefSeq, Jan 2016]

KDELC2 Gene

KDEL (Lys-Asp-Glu-Leu) containing 2

Enables UDP-glucosyltransferase activity and UDP-xylosyltransferase activity. Involved in protein O-linked glycosylation via serine. Predicted to be located in endoplasmic reticulum lumen. Predicted to be active in endomembrane system. [provided by Alliance of Genome Resources, Mar 2025]

TRD-GTC9-1 Gene

transfer RNA-Asp (GTC) 9-1

TRD-GTC8-1 Gene

transfer RNA-Asp (GTC) 8-1

DHX38 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 38

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008]

DHX30 Gene

DEAH (Asp-Glu-Ala-His) box helicase 30

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

DHX32 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 32

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008]

DHX33 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 33

This gene encodes a member of the DEAD box protein family. The DEAD box proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

DHX34 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 34

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq, Jul 2008]

DHX35 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 35

DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010]

DHX36 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 36

This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

DHX37 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 37

This gene encodes a DEAD box protein. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008]

TRD-GTC10-1 Gene

transfer RNA-Asp (GTC) 10-1

TRD-GTC5-1 Gene

transfer RNA-Asp (GTC) 5-1

ASPM Gene

asp (abnormal spindle) homolog, microcephaly associated (Drosophila)

This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]

DHX58 Gene

DEXH (Asp-Glu-X-His) box polypeptide 58

Enables several functions, including ATP hydrolysis activity; RNA binding activity; and zinc ion binding activity. Involved in negative regulation of type I interferon production and regulation of innate immune response. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

TRD-GTC4-1 Gene

transfer RNA-Asp (GTC) 4-1

KDELR2 Gene

KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2

Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR2 was the second member of the family to be identified, and it encodes a protein which is 83% identical to the KDELR1 gene product. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

KDELR3 Gene

KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3

This gene encodes a member of the KDEL endoplasmic reticulum protein retention receptor family. Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR3 was the third member of the family to be identified. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

KDELR1 Gene

KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1

Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, which is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. The protein encoded by this gene was the first member of the family to be identified, and it encodes a protein structurally and functionally similar to the yeast ERD2 gene product. [provided by RefSeq, Jul 2008]

TRD-GTC2-4 Gene

transfer RNA-Asp (GTC) 2-4

TRD-GTC2-5 Gene

transfer RNA-Asp (GTC) 2-5

TRD-GTC2-1 Gene

transfer RNA-Asp (GTC) 2-1

TRD-GTC1-1 Gene

transfer RNA-Asp (GTC) 1-1

DHX9P1 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene 1

LOC646813 Gene

DEAH (Asp-Glu-Ala-His) box helicase 9 pseudogene

TRD-GTC3-1 Gene

transfer RNA-Asp (GTC) 3-1

TRD-GTC2-9 Gene

transfer RNA-Asp (GTC) 2-9

TRD-GTC7-1 Gene

transfer RNA-Asp (GTC) 7-1

ASP-3026-resistant ALK mutants Gene Set

From Reactome Pathways 2024

proteins participating in the ASP-3026-resistant ALK mutants pathway from the Reactome Pathways 2024 dataset.

ALK mutants bind TKIs Gene Set

From Reactome Pathways 2024

proteins participating in the ALK mutants bind TKIs pathway from the Reactome Pathways 2024 dataset.

Drug resistance of ALK mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Drug resistance of ALK mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by ALK fusions and activated point mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by ALK fusions and activated point mutants pathway from the Reactome Pathways 2024 dataset.

zAsp(Ome)-Arg-His-Asp(Ome)-fluoromethyl ketone Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical zAsp(Ome)-Arg-His-Asp(Ome)-fluoromethyl ketone from the curated CTD Gene-Chemical Interactions dataset.

dynorphin A-(1-11)-NH2, Nalpha-benzylTyr(1)-cyclo(Asp(5)-Dap(8))- Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical dynorphin A-(1-11)-NH2, Nalpha-benzylTyr(1)-cyclo(Asp(5)-Dap(8))- from the curated CTD Gene-Chemical Interactions dataset.

cyclo(Trp-Asp-Pro-Val-Leu) Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical cyclo(Trp-Asp-Pro-Val-Leu) from the curated CTD Gene-Chemical Interactions dataset.

quinoline-val-asp(OMe)-CH2-OPH Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical quinoline-val-asp(OMe)-CH2-OPH from the curated CTD Gene-Chemical Interactions dataset.

asp Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term asp in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Ac-c[Cys-Glu-His-D-Phe-Arg-Trp-D-Cys]-Pro-Pro-Lys-Asp-NH2 Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the Ac-c[Cys-Glu-His-D-Phe-Arg-Trp-D-Cys]-Pro-Pro-Lys-Asp-NH2 ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

Peptidase S8, subtilisin, Asp-active site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peptidase S8, subtilisin, Asp-active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

BRD-K95992530_Cyclo [Arg-Gly-Asp-D-Phe-Val]_HA1E_24.0_h_10.0_um Gene Set

From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the BRD-K95992530_Cyclo [Arg-Gly-Asp-D-Phe-Val]_HA1E_24.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

asp Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term asp in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

Ac-Asp-Glu binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the Ac-Asp-Glu binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

Ac-Asp-Glu binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the Ac-Asp-Glu binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

ASP-9521 Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the ASP-9521 drug from theDGIdb Drug Targets 2026 dataset.

ASP-0819 Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the ASP-0819 drug from theDGIdb Drug Targets 2026 dataset.

ASP-8477 Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the ASP-8477 drug from theDGIdb Drug Targets 2026 dataset.

AC-C[CYS-GLU-HIS-D-PHE-ARG-TRP-D-CYS]-PRO-PRO-LYS-ASP-NH2 Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the AC-C[CYS-GLU-HIS-D-PHE-ARG-TRP-D-CYS]-PRO-PRO-LYS-ASP-NH2 drug from theDGIdb Drug Targets 2026 dataset.

ASP-4058 Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the ASP-4058 drug from theDGIdb Drug Targets 2026 dataset.

ASP-8374 Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the ASP-8374 drug from theDGIdb Drug Targets 2026 dataset.

alk in cardiac myocytes Gene Set

From Biocarta Pathways

proteins participating in the alk in cardiac myocytes pathway from the Biocarta Pathways dataset.

alk Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term alk in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ALK tyrosine kinase receptor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the ALK tyrosine kinase receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Nuclear-interacting partner of ALK/Rsm1-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Nuclear-interacting partner of ALK/Rsm1-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

ALK Gene Set

From KEA Substrates of Kinases

substrates of the kinase ALK from the curated KEA Substrates of Kinases dataset.

ALK Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for ALK from the Pathway Commons Protein-Protein Interactions dataset.

ALK Gene Set

From PhosphoSitePlus Substrates of Kinases

substrates of the kinase ALK from the curated PhosphoSitePlus Substrates of Kinases dataset.

Alk Positive Large B-Cell Lymphoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Alk Positive Large B-Cell Lymphoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

ALK Gene Set

From LINCS L1000 CMAP CRISPR Knockout Consensus Signatures

genes differentially expressed following the ALK gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.

ALK Gene Set

From Kinase Library Tyrosine Kinome Atlas

substrates of the kinase ALK from the Kinase Library Tyrosine Kinome Atlas dataset.

MDK and PTN in ALK signaling Gene Set

From Reactome Pathways 2024

proteins participating in the MDK and PTN in ALK signaling pathway from the Reactome Pathways 2024 dataset.

Nuclear events stimulated by ALK signaling in cancer Gene Set

From Reactome Pathways 2024

proteins participating in the Nuclear events stimulated by ALK signaling in cancer pathway from the Reactome Pathways 2024 dataset.

STAT3 nuclear events downstream of ALK signaling Gene Set

From Reactome Pathways 2024

proteins participating in the STAT3 nuclear events downstream of ALK signaling pathway from the Reactome Pathways 2024 dataset.

Signaling by ALK Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by ALK pathway from the Reactome Pathways 2024 dataset.

Signaling by ALK in cancer Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by ALK in cancer pathway from the Reactome Pathways 2024 dataset.

ALK INHIBITOR ASP3026 Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the ALK INHIBITOR ASP3026 drug from theDGIdb Drug Targets 2026 dataset.

ALK INHIBITOR NVL-655 Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the ALK INHIBITOR NVL-655 drug from theDGIdb Drug Targets 2026 dataset.

ALK INHIBITOR TAE684 Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the ALK INHIBITOR TAE684 drug from theDGIdb Drug Targets 2026 dataset.

ALK/C-MET INHIBITOR TQ-B3139 Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the ALK/C-MET INHIBITOR TQ-B3139 drug from theDGIdb Drug Targets 2026 dataset.

mutants Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term mutants in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Signaling by NOTCH1 PEST Domain Mutants in Cancer Gene Set

From Reactome Pathways 2014

proteins participating in the Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway from the Reactome Pathways dataset.

SMAD2/3 Phosphorylation Motif Mutants in Cancer Gene Set

From Reactome Pathways 2014

proteins participating in the SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway from the Reactome Pathways dataset.

SMAD2/3 MH2 Domain Mutants in Cancer Gene Set

From Reactome Pathways 2014

proteins participating in the SMAD2/3 MH2 Domain Mutants in Cancer pathway from the Reactome Pathways dataset.

Constitutive Signaling by NOTCH1 HD Domain Mutants Gene Set

From Reactome Pathways 2014

proteins participating in the Constitutive Signaling by NOTCH1 HD Domain Mutants pathway from the Reactome Pathways dataset.

TGFBR1 KD Mutants in Cancer Gene Set

From Reactome Pathways 2014

proteins participating in the TGFBR1 KD Mutants in Cancer pathway from the Reactome Pathways dataset.

Signaling by NOTCH1 HD Domain Mutants in Cancer Gene Set

From Reactome Pathways 2014

proteins participating in the Signaling by NOTCH1 HD Domain Mutants in Cancer pathway from the Reactome Pathways dataset.

AXIN missense mutants destabilize the destruction complex Gene Set

From Reactome Pathways 2014

proteins participating in the AXIN missense mutants destabilize the destruction complex pathway from the Reactome Pathways dataset.

Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants Gene Set

From Reactome Pathways 2014

proteins participating in the Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway from the Reactome Pathways dataset.

Signaling by FGFR3 mutants Gene Set

From Reactome Pathways 2014

proteins participating in the Signaling by FGFR3 mutants pathway from the Reactome Pathways dataset.

APC truncation mutants have impaired AXIN binding Gene Set

From Reactome Pathways 2014

proteins participating in the APC truncation mutants have impaired AXIN binding pathway from the Reactome Pathways dataset.

APC truncation mutants are not K63 polyubiquitinated Gene Set

From Reactome Pathways 2014

proteins participating in the APC truncation mutants are not K63 polyubiquitinated pathway from the Reactome Pathways dataset.

S37 mutants of beta-catenin aren't phosphorylated Gene Set

From Reactome Pathways 2014

proteins participating in the S37 mutants of beta-catenin aren't phosphorylated pathway from the Reactome Pathways dataset.

Signaling by FGFR2 amplification mutants Gene Set

From Reactome Pathways 2014

proteins participating in the Signaling by FGFR2 amplification mutants pathway from the Reactome Pathways dataset.

S33 mutants of beta-catenin aren't phosphorylated Gene Set

From Reactome Pathways 2014

proteins participating in the S33 mutants of beta-catenin aren't phosphorylated pathway from the Reactome Pathways dataset.

FBXW7 Mutants and NOTCH1 in Cancer Gene Set

From Reactome Pathways 2014

proteins participating in the FBXW7 Mutants and NOTCH1 in Cancer pathway from the Reactome Pathways dataset.

Signaling by FGFR1 mutants Gene Set

From Reactome Pathways 2014

proteins participating in the Signaling by FGFR1 mutants pathway from the Reactome Pathways dataset.

Signaling by FGFR1 fusion mutants Gene Set

From Reactome Pathways 2014

proteins participating in the Signaling by FGFR1 fusion mutants pathway from the Reactome Pathways dataset.

TCF7L2 mutants don't bind CTBP Gene Set

From Reactome Pathways 2014

proteins participating in the TCF7L2 mutants don't bind CTBP pathway from the Reactome Pathways dataset.

Signaling by FGFR2 mutants Gene Set

From Reactome Pathways 2014

proteins participating in the Signaling by FGFR2 mutants pathway from the Reactome Pathways dataset.

RNF mutants show enhanced WNT signaling and proliferation Gene Set

From Reactome Pathways 2014

proteins participating in the RNF mutants show enhanced WNT signaling and proliferation pathway from the Reactome Pathways dataset.

Signaling by FGFR4 mutants Gene Set

From Reactome Pathways 2014

proteins participating in the Signaling by FGFR4 mutants pathway from the Reactome Pathways dataset.

Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer Gene Set

From Reactome Pathways 2014

proteins participating in the Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway from the Reactome Pathways dataset.

truncated APC mutants destabilize the destruction complex Gene Set

From Reactome Pathways 2014

proteins participating in the truncated APC mutants destabilize the destruction complex pathway from the Reactome Pathways dataset.

AXIN mutants destabilize the destruction complex, activating WNT signaling Gene Set

From Reactome Pathways 2014

proteins participating in the AXIN mutants destabilize the destruction complex, activating WNT signaling pathway from the Reactome Pathways dataset.

Activated point mutants of FGFR2 Gene Set

From Reactome Pathways 2014

proteins participating in the Activated point mutants of FGFR2 pathway from the Reactome Pathways dataset.

TGFBR2 Kinase Domain Mutants in Cancer Gene Set

From Reactome Pathways 2014

proteins participating in the TGFBR2 Kinase Domain Mutants in Cancer pathway from the Reactome Pathways dataset.

Signaling by FGFR mutants Gene Set

From Reactome Pathways 2014

proteins participating in the Signaling by FGFR mutants pathway from the Reactome Pathways dataset.

Signaling by FGFR1 amplification mutants Gene Set

From Reactome Pathways 2014

proteins participating in the Signaling by FGFR1 amplification mutants pathway from the Reactome Pathways dataset.

Constitutive Signaling by NOTCH1 PEST Domain Mutants Gene Set

From Reactome Pathways 2014

proteins participating in the Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway from the Reactome Pathways dataset.

phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex Gene Set

From Reactome Pathways 2014

proteins participating in the phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex pathway from the Reactome Pathways dataset.

TGFBR1 LBD Mutants in Cancer Gene Set

From Reactome Pathways 2014

proteins participating in the TGFBR1 LBD Mutants in Cancer pathway from the Reactome Pathways dataset.

S45 mutants of beta-catenin aren't phosphorylated Gene Set

From Reactome Pathways 2014

proteins participating in the S45 mutants of beta-catenin aren't phosphorylated pathway from the Reactome Pathways dataset.

T41 mutants of beta-catenin aren't phosphorylated Gene Set

From Reactome Pathways 2014

proteins participating in the T41 mutants of beta-catenin aren't phosphorylated pathway from the Reactome Pathways dataset.

AMER1 mutants destabilize the destruction complex Gene Set

From Reactome Pathways 2014

proteins participating in the AMER1 mutants destabilize the destruction complex pathway from the Reactome Pathways dataset.

misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling Gene Set

From Reactome Pathways 2014

proteins participating in the misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling pathway from the Reactome Pathways dataset.

SMAD4 MH2 Domain Mutants in Cancer Gene Set

From Reactome Pathways 2014

proteins participating in the SMAD4 MH2 Domain Mutants in Cancer pathway from the Reactome Pathways dataset.

TGFBR2 MSI Frameshift Mutants in Cancer Gene Set

From Reactome Pathways 2014

proteins participating in the TGFBR2 MSI Frameshift Mutants in Cancer pathway from the Reactome Pathways dataset.

Signaling by activated point mutants of FGFR1 Gene Set

From Reactome Pathways 2014

proteins participating in the Signaling by activated point mutants of FGFR1 pathway from the Reactome Pathways dataset.

Signaling by activated point mutants of FGFR3 Gene Set

From Reactome Pathways 2014

proteins participating in the Signaling by activated point mutants of FGFR3 pathway from the Reactome Pathways dataset.

misspliced GSK3beta mutants stabilize beta-catenin Gene Set

From Reactome Pathways 2014

proteins participating in the misspliced GSK3beta mutants stabilize beta-catenin pathway from the Reactome Pathways dataset.

APC truncation mutants are not K63 polyubiquitinated Gene Set

From Reactome Pathways 2024

proteins participating in the APC truncation mutants are not K63 polyubiquitinated pathway from the Reactome Pathways 2024 dataset.

APC truncation mutants have impaired AXIN binding Gene Set

From Reactome Pathways 2024

proteins participating in the APC truncation mutants have impaired AXIN binding pathway from the Reactome Pathways 2024 dataset.

AXIN missense mutants destabilize the destruction complex Gene Set

From Reactome Pathways 2024

proteins participating in the AXIN missense mutants destabilize the destruction complex pathway from the Reactome Pathways 2024 dataset.

Activated point mutants of FGFR2 Gene Set

From Reactome Pathways 2024

proteins participating in the Activated point mutants of FGFR2 pathway from the Reactome Pathways 2024 dataset.

CTNNB1 S33 mutants aren't phosphorylated Gene Set

From Reactome Pathways 2024

proteins participating in the CTNNB1 S33 mutants aren't phosphorylated pathway from the Reactome Pathways 2024 dataset.

CTNNB1 S37 mutants aren't phosphorylated Gene Set

From Reactome Pathways 2024

proteins participating in the CTNNB1 S37 mutants aren't phosphorylated pathway from the Reactome Pathways 2024 dataset.

CTNNB1 S45 mutants aren't phosphorylated Gene Set

From Reactome Pathways 2024

proteins participating in the CTNNB1 S45 mutants aren't phosphorylated pathway from the Reactome Pathways 2024 dataset.

CTNNB1 T41 mutants aren't phosphorylated Gene Set

From Reactome Pathways 2024

proteins participating in the CTNNB1 T41 mutants aren't phosphorylated pathway from the Reactome Pathways 2024 dataset.

Constitutive Signaling by NOTCH1 HD Domain Mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Constitutive Signaling by NOTCH1 HD Domain Mutants pathway from the Reactome Pathways 2024 dataset.

Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway from the Reactome Pathways 2024 dataset.

Constitutive Signaling by NOTCH1 PEST Domain Mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway from the Reactome Pathways 2024 dataset.

Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) Gene Set

From Reactome Pathways 2024

proteins participating in the Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) pathway from the Reactome Pathways 2024 dataset.

Defective translocation of RB1 mutants to the nucleus Gene Set

From Reactome Pathways 2024

proteins participating in the Defective translocation of RB1 mutants to the nucleus pathway from the Reactome Pathways 2024 dataset.

Drug resistance in ERBB2 KD mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Drug resistance in ERBB2 KD mutants pathway from the Reactome Pathways 2024 dataset.

Drug resistance in ERBB2 TMD/JMD mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Drug resistance in ERBB2 TMD/JMD mutants pathway from the Reactome Pathways 2024 dataset.

Drug resistance of FLT3 mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Drug resistance of FLT3 mutants pathway from the Reactome Pathways 2024 dataset.

Drug resistance of KIT mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Drug resistance of KIT mutants pathway from the Reactome Pathways 2024 dataset.

Drug resistance of PDGFR mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Drug resistance of PDGFR mutants pathway from the Reactome Pathways 2024 dataset.

FBXW7 Mutants and NOTCH1 in Cancer Gene Set

From Reactome Pathways 2024

proteins participating in the FBXW7 Mutants and NOTCH1 in Cancer pathway from the Reactome Pathways 2024 dataset.

FLT3 mutants bind TKIs Gene Set

From Reactome Pathways 2024

proteins participating in the FLT3 mutants bind TKIs pathway from the Reactome Pathways 2024 dataset.

FLT3 signaling by CBL mutants Gene Set

From Reactome Pathways 2024

proteins participating in the FLT3 signaling by CBL mutants pathway from the Reactome Pathways 2024 dataset.

Hh mutants abrogate ligand secretion Gene Set

From Reactome Pathways 2024

proteins participating in the Hh mutants abrogate ligand secretion pathway from the Reactome Pathways 2024 dataset.

Hh mutants are degraded by ERAD Gene Set

From Reactome Pathways 2024

proteins participating in the Hh mutants are degraded by ERAD pathway from the Reactome Pathways 2024 dataset.

KIT mutants bind TKIs Gene Set

From Reactome Pathways 2024

proteins participating in the KIT mutants bind TKIs pathway from the Reactome Pathways 2024 dataset.

PDGFR mutants bind TKIs Gene Set

From Reactome Pathways 2024

proteins participating in the PDGFR mutants bind TKIs pathway from the Reactome Pathways 2024 dataset.

RAS GTPase cycle mutants Gene Set

From Reactome Pathways 2024

proteins participating in the RAS GTPase cycle mutants pathway from the Reactome Pathways 2024 dataset.

Resistance of ERBB2 KD mutants to AEE788 Gene Set

From Reactome Pathways 2024

proteins participating in the Resistance of ERBB2 KD mutants to AEE788 pathway from the Reactome Pathways 2024 dataset.

Resistance of ERBB2 KD mutants to afatinib Gene Set

From Reactome Pathways 2024

proteins participating in the Resistance of ERBB2 KD mutants to afatinib pathway from the Reactome Pathways 2024 dataset.

Resistance of ERBB2 KD mutants to lapatinib Gene Set

From Reactome Pathways 2024

proteins participating in the Resistance of ERBB2 KD mutants to lapatinib pathway from the Reactome Pathways 2024 dataset.

Resistance of ERBB2 KD mutants to neratinib Gene Set

From Reactome Pathways 2024

proteins participating in the Resistance of ERBB2 KD mutants to neratinib pathway from the Reactome Pathways 2024 dataset.

Resistance of ERBB2 KD mutants to osimertinib Gene Set

From Reactome Pathways 2024

proteins participating in the Resistance of ERBB2 KD mutants to osimertinib pathway from the Reactome Pathways 2024 dataset.

Resistance of ERBB2 KD mutants to sapitinib Gene Set

From Reactome Pathways 2024

proteins participating in the Resistance of ERBB2 KD mutants to sapitinib pathway from the Reactome Pathways 2024 dataset.

Resistance of ERBB2 KD mutants to tesevatinib Gene Set

From Reactome Pathways 2024

proteins participating in the Resistance of ERBB2 KD mutants to tesevatinib pathway from the Reactome Pathways 2024 dataset.

Resistance of ERBB2 KD mutants to trastuzumab Gene Set

From Reactome Pathways 2024

proteins participating in the Resistance of ERBB2 KD mutants to trastuzumab pathway from the Reactome Pathways 2024 dataset.

SMAD2/3 MH2 Domain Mutants in Cancer Gene Set

From Reactome Pathways 2024

proteins participating in the SMAD2/3 MH2 Domain Mutants in Cancer pathway from the Reactome Pathways 2024 dataset.

SMAD2/3 Phosphorylation Motif Mutants in Cancer Gene Set

From Reactome Pathways 2024

proteins participating in the SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway from the Reactome Pathways 2024 dataset.

SMAD4 MH2 Domain Mutants in Cancer Gene Set

From Reactome Pathways 2024

proteins participating in the SMAD4 MH2 Domain Mutants in Cancer pathway from the Reactome Pathways 2024 dataset.

STAT5 activation downstream of FLT3 ITD mutants Gene Set

From Reactome Pathways 2024

proteins participating in the STAT5 activation downstream of FLT3 ITD mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by AMER1 mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by AMER1 mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by APC mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by APC mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by AXIN mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by AXIN mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by CTNNB1 phospho-site mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by CTNNB1 phospho-site mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by ERBB2 ECD mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by ERBB2 ECD mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by ERBB2 KD Mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by ERBB2 KD Mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by ERBB2 TMD/JMD mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by ERBB2 TMD/JMD mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by FGFR1 amplification mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by FGFR1 amplification mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by FGFR2 amplification mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by FGFR2 amplification mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by FLT3 ITD and TKD mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by FLT3 ITD and TKD mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by GSK3beta mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by GSK3beta mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by LRP5 mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by LRP5 mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by MAP2K mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by MAP2K mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by MAPK mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by MAPK mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by MRAS-complex mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by MRAS-complex mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by NOTCH1 HD Domain Mutants in Cancer Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by NOTCH1 HD Domain Mutants in Cancer pathway from the Reactome Pathways 2024 dataset.

Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway from the Reactome Pathways 2024 dataset.

Signaling by NOTCH1 PEST Domain Mutants in Cancer Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway from the Reactome Pathways 2024 dataset.

Signaling by PDGFRA extracellular domain mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by PDGFRA extracellular domain mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by RAF1 mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by RAF1 mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by RAS GAP mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by RAS GAP mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by RAS GTPase mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by RAS GTPase mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by RAS mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by RAS mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by RNF43 mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by RNF43 mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by TCF7L2 mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by TCF7L2 mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by activated point mutants of FGFR1 Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by activated point mutants of FGFR1 pathway from the Reactome Pathways 2024 dataset.

Signaling by activated point mutants of FGFR3 Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by activated point mutants of FGFR3 pathway from the Reactome Pathways 2024 dataset.

Signaling by cytosolic FGFR1 fusion mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by cytosolic FGFR1 fusion mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by extracellular domain mutants of KIT Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by extracellular domain mutants of KIT pathway from the Reactome Pathways 2024 dataset.

Signaling by high-kinase activity BRAF mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by high-kinase activity BRAF mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by juxtamembrane domain KIT mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by juxtamembrane domain KIT mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by kinase domain mutants of KIT Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by kinase domain mutants of KIT pathway from the Reactome Pathways 2024 dataset.

Signaling by moderate kinase activity BRAF mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by moderate kinase activity BRAF mutants pathway from the Reactome Pathways 2024 dataset.

Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants pathway from the Reactome Pathways 2024 dataset.

Signaling downstream of RAS mutants Gene Set

From Reactome Pathways 2024

proteins participating in the Signaling downstream of RAS mutants pathway from the Reactome Pathways 2024 dataset.

TGFBR1 KD Mutants in Cancer Gene Set

From Reactome Pathways 2024

proteins participating in the TGFBR1 KD Mutants in Cancer pathway from the Reactome Pathways 2024 dataset.

TGFBR1 LBD Mutants in Cancer Gene Set

From Reactome Pathways 2024

proteins participating in the TGFBR1 LBD Mutants in Cancer pathway from the Reactome Pathways 2024 dataset.

TGFBR2 Kinase Domain Mutants in Cancer Gene Set

From Reactome Pathways 2024

proteins participating in the TGFBR2 Kinase Domain Mutants in Cancer pathway from the Reactome Pathways 2024 dataset.

TGFBR2 MSI Frameshift Mutants in Cancer Gene Set

From Reactome Pathways 2024

proteins participating in the TGFBR2 MSI Frameshift Mutants in Cancer pathway from the Reactome Pathways 2024 dataset.