psui3905/ncbi_genes_summary huggingface dataset:
KIF5B, Official Symbol KIF5Bprovided by HGNC Official Full Name kinesin family member 5Bprovided by HGNC Primary source HGNC:HGNC:6324 See related Ensembl:ENSG00000170759 MIM:602809; AllianceGenome:HGNC:6324 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KNS; KINH; KNS1; UKHC; HEL-S-61 Summary Enables identical protein binding activity; microtubule binding activity; and microtubule motor activity. Involved in several processes, including lysosome localization; natural killer cell mediated cytotoxicity; and positive regulation of protein localization to plasma membrane. Located in centriolar satellite; cytosol; and vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 44.1), gall bladder (RPKM 42.8) and 25 other tissues See more Orthologs mouse all
KIF5C, Official Symbol KIF5Cprovided by HGNC Official Full Name kinesin family member 5Cprovided by HGNC Primary source HGNC:HGNC:6325 See related Ensembl:ENSG00000168280 MIM:604593; AllianceGenome:HGNC:6325 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KINN; NKHC; NKHC2; CDCBM2; NKHC-2 Summary The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015] Expression Biased expression in brain (RPKM 82.3), testis (RPKM 17.1) and 2 other tissues See more Orthologs mouse all
KIF6, Official Symbol KIF6provided by HGNC Official Full Name kinesin family member 6provided by HGNC Primary source HGNC:HGNC:21202 See related Ensembl:ENSG00000164627 MIM:613919; AllianceGenome:HGNC:21202 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C6orf102; dJ137F1.4; dJ188D3.1; dJ1043E3.1 Summary This gene encodes a member of a family of molecular motors which are involved in intracellular transport of protein complexes, membrane organelles, and messenger ribonucleic acid along microtubules. Kinesins function as homodimeric molecules with two N-terminal head domains that move along microtubules and two C-terminal tail domains that interact with the transported cargo, either directly or indirectly, through adapter molecules. This gene is ubiquitously expressed in coronary arteries and other vascular tissue. A naturally occurring mutation in this gene is associated with coronary heart disease. [provided by RefSeq, May 2017] Expression Biased expression in testis (RPKM 1.6), brain (RPKM 1.0) and 4 other tissues See more Orthologs mouse all
KIF7, Official Symbol KIF7provided by HGNC Official Full Name kinesin family member 7provided by HGNC Primary source HGNC:HGNC:30497 See related Ensembl:ENSG00000166813 MIM:611254; AllianceGenome:HGNC:30497 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ACLS; AGBK; HLS2; MMEDF; JBTS12; UNQ340 Summary This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in endometrium (RPKM 2.5), prostate (RPKM 2.2) and 24 other tissues See more Orthologs mouse all
KIF9, Official Symbol KIF9provided by HGNC Official Full Name kinesin family member 9provided by HGNC Primary source HGNC:HGNC:16666 See related Ensembl:ENSG00000088727 MIM:607910; AllianceGenome:HGNC:16666 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables identical protein binding activity. Involved in extracellular matrix disassembly; organelle disassembly; and regulation of podosome assembly. Located in microtubule; podosome; and vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 11.7), thyroid (RPKM 1.7) and 10 other tissues See more Orthologs mouse all
KIFAP3, Official Symbol KIFAP3provided by HGNC Official Full Name kinesin associated protein 3provided by HGNC Primary source HGNC:HGNC:17060 See related Ensembl:ENSG00000075945 MIM:601836; AllianceGenome:HGNC:17060 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FLA3; KAP3; SMAP; KAP-1; KAP-3; Smg-GDS; dJ190I16.1 Summary The small G protein GDP dissociation stimulator (smg GDS) is a regulator protein having two activities on a group of small G proteins including the Rho and Rap1 family members and Ki-Ras; one is to stimulate their GDP/GTP exchange reactions, and the other is to inhibit their interactions with membranes. The protein encoded by this gene contains 9 'Armadillo' repeats and interacts with the smg GDS protein through these repeats. This protein, which is highly concentrated around the endoplasmic reticulum, is phosphorylated by v-src, and this phosphorylation reduces the affinity of the protein for smg GDS. It is thought that this protein serves as a linker between human chromosome-associated polypeptide (HCAP) and KIF3A/B, a kinesin superfamily protein in the nucleus, and that it plays a role in the interaction of chromosomes with an ATPase motor protein. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] Expression Broad expression in brain (RPKM 27.3), testis (RPKM 15.2) and 24 other tissues See more Orthologs mouse all
KIFBP, Official Symbol KIFBPprovided by HGNC Official Full Name kinesin family binding proteinprovided by HGNC Primary source HGNC:HGNC:23419 See related Ensembl:ENSG00000198954 MIM:609367; AllianceGenome:HGNC:23419 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KBP; TTC20; KIF1BP; KIAA1279 Summary This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in brain (RPKM 14.4), testis (RPKM 9.5) and 25 other tissues See more Orthologs mouse all
KIFC1, Official Symbol KIFC1provided by HGNC Official Full Name kinesin family member C1provided by HGNC Primary source HGNC:HGNC:6389 See related Ensembl:ENSG00000237649 MIM:603763; AllianceGenome:HGNC:6389 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSET; KNSL2 Summary Predicted to enable microtubule binding activity and minus-end-directed microtubule motor activity. Involved in mitotic metaphase plate congression and mitotic spindle assembly. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 10.5), lymph node (RPKM 9.0) and 15 other tissues See more Orthologs all
KIFC2, Official Symbol KIFC2provided by HGNC Official Full Name kinesin family member C2provided by HGNC Primary source HGNC:HGNC:29530 See related Ensembl:ENSG00000167702 MIM:615216; AllianceGenome:HGNC:29530 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable microtubule binding activity and microtubule motor activity. Predicted to be involved in microtubule-based movement and mitotic spindle assembly. Predicted to be located in cytoplasm. Predicted to be part of kinesin complex. Predicted to be active in microtubule cytoskeleton and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 26.6), brain (RPKM 13.3) and 21 other tissues See more Orthologs mouse all
KIFC3, Official Symbol KIFC3provided by HGNC Official Full Name kinesin family member C3provided by HGNC Primary source HGNC:HGNC:6326 See related Ensembl:ENSG00000140859 MIM:604535; AllianceGenome:HGNC:6326 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Expression Broad expression in kidney (RPKM 11.2), testis (RPKM 9.9) and 24 other tissues See more Orthologs mouse all
KIN, Official Symbol KINprovided by HGNC Official Full Name Kin17 DNA and RNA binding proteinprovided by HGNC Primary source HGNC:HGNC:6327 See related Ensembl:ENSG00000151657 MIM:601720; AllianceGenome:HGNC:6327 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BTCD; Rts2; KIN17 Summary The protein encoded by this gene is a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in endometrium (RPKM 1.8), thyroid (RPKM 1.7) and 25 other tissues See more Orthologs mouse all
KIR2DL1, Official Symbol KIR2DL1provided by HGNC Official Full Name killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1provided by HGNC Primary source HGNC:HGNC:6329 See related Ensembl:ENSG00000125498 MIM:604936; AllianceGenome:HGNC:6329 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NKAT; NKAT1; p58.1; CD158A; KIR221; NKAT-1; KIR-K64; KIR2DL3 Summary Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
KIR2DL3, Official Symbol KIR2DL3provided by HGNC Official Full Name killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3provided by HGNC Primary source HGNC:HGNC:6331 See related Ensembl:ENSG00000243772 MIM:604938; AllianceGenome:HGNC:6331 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p58; NKAT; GL183; NKAT2; CD158b; KIR2DL; NKAT2A; NKAT2B; CD158B2; KIR-K7b; KIR-K7c; KIR2DS5; KIRCL23; KIR-023GB Summary Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
KIR2DL4, Official Symbol KIR2DL4provided by HGNC Official Full Name killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4provided by HGNC Primary source HGNC:HGNC:6332 See related Ensembl:ENSG00000189013 MIM:604945; AllianceGenome:HGNC:6332 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as G9P; CD158D; KIR103; KIR-2DL4; KIR103AS; KIR-103AS Summary Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternate alleles of this gene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splicing results in multiple transcript variants, some of which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016] Expression Biased expression in spleen (RPKM 1.3), endometrium (RPKM 0.5) and 12 other tissues See more Orthologs all
KIR2DS4, Official Symbol KIR2DS4provided by HGNC Official Full Name killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4provided by HGNC Primary source HGNC:HGNC:6336 See related Ensembl:ENSG00000221957 MIM:604955; AllianceGenome:HGNC:6336 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KKA3; KIR1D; NKAT8; CD158I; KIR412; NKAT-8; KIR-2DS4 Summary Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
KIR3DL1, Official Symbol KIR3DL1provided by HGNC Official Full Name killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1provided by HGNC Primary source HGNC:HGNC:6338 See related Ensembl:ENSG00000167633 MIM:604946; AllianceGenome:HGNC:6338 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KIR; NKB1; NKAT3; NKB1B; NKAT-3; CD158E1; KIR2DL5B; KIR3DL1/S1 Summary Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
KIR3DL2, Official Symbol KIR3DL2provided by HGNC Official Full Name killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2provided by HGNC Primary source HGNC:HGNC:6339 See related Ensembl:ENSG00000240403 MIM:604947; AllianceGenome:HGNC:6339 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 3DL2; p140; NKAT4; CD158K; NKAT-4; NKAT4B; KIR-3DL2 Summary Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011] Expression Low expression observed in reference dataset See more Orthologs all
KIR3DL3, Official Symbol KIR3DL3provided by HGNC Official Full Name killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3provided by HGNC Primary source HGNC:HGNC:16312 See related Ensembl:ENSG00000242019 MIM:610095; AllianceGenome:HGNC:16312 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KIR44; KIRC1; CD158Z; KIR3DL7; KIR2DL5B Summary Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
KIRREL1, Official Symbol KIRREL1provided by HGNC Official Full Name kirre like nephrin family adhesion molecule 1provided by HGNC Primary source HGNC:HGNC:15734 See related Ensembl:ENSG00000183853 MIM:607428; AllianceGenome:HGNC:15734 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NEPH1; KIRREL; NPHS23 Summary NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in placenta (RPKM 3.8), gall bladder (RPKM 3.0) and 22 other tissues See more Orthologs mouse all
KIRREL2, Official Symbol KIRREL2provided by HGNC Official Full Name kirre like nephrin family adhesion molecule 2provided by HGNC Primary source HGNC:HGNC:18816 See related Ensembl:ENSG00000126259 MIM:607762; AllianceGenome:HGNC:18816 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NLG1; NEPH3; FILTRIN Summary This gene encodes a type I transmembrane protein and member of the immunoglobulin superfamily of cell adhesion molecules. The encoded protein localizes to adherens junctions in pancreatic beta cells and regulates insulin secretion. Autoantibodies against the encoded protein have been detected in serum from patients with type 1 diabetes. This gene may also play a role in glomerular development and decreased expression of this gene has been observed in human glomerular diseases. This gene and the related opposite-strand gene nephrin (GeneID: 527362) are regulated by a bidirectional promoter. [provided by RefSeq, Jul 2016] Expression Biased expression in pancreas (RPKM 5.8), kidney (RPKM 0.6) and 3 other tissues See more Orthologs mouse all
KIRREL3, Official Symbol KIRREL3provided by HGNC Official Full Name kirre like nephrin family adhesion molecule 3provided by HGNC Primary source HGNC:HGNC:23204 See related Ensembl:ENSG00000149571 MIM:607761; AllianceGenome:HGNC:23204 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MRD4; KIRRE; NEPH2; PRO4502 Summary The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. The protein encoded by this gene is a synaptic cell adhesion molecule with multiple extracellular immunoglobulin-like domains and a cytoplasmic PDZ domain-binding motif. Mutations in this gene are associated with several neurological and cognitive disorders. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017] Expression Biased expression in brain (RPKM 6.0), adrenal (RPKM 0.5) and 1 other tissue See more Orthologs mouse all
KIRREL3-AS1, Official Symbol KIRREL3-AS1provided by HGNC Official Full Name KIRREL3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:42655 See related AllianceGenome:HGNC:42655 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KIRREL3-AS2, Official Symbol KIRREL3-AS2provided by HGNC Official Full Name KIRREL3 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:42656 See related Ensembl:ENSG00000254960 AllianceGenome:HGNC:42656 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 5.1) See more
KIRREL3-AS3, Official Symbol KIRREL3-AS3provided by HGNC Official Full Name KIRREL3 antisense RNA 3provided by HGNC Primary source HGNC:HGNC:26855 See related Ensembl:ENSG00000218109 AllianceGenome:HGNC:26855 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRR10; NCRNA00288 Expression Low expression observed in reference dataset See more
KISS1, Official Symbol KISS1provided by HGNC Official Full Name KiSS-1 metastasis suppressorprovided by HGNC Primary source HGNC:HGNC:6341 See related Ensembl:ENSG00000170498 MIM:603286; AllianceGenome:HGNC:6341 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HH13; KiSS-1 Summary This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH neurons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Jun 2022] Expression Restricted expression toward placenta (RPKM 183.9) See more Orthologs mouse all
KISS1R, Official Symbol KISS1Rprovided by HGNC Official Full Name KISS1 receptorprovided by HGNC Primary source HGNC:HGNC:4510 See related Ensembl:ENSG00000116014 MIM:604161; AllianceGenome:HGNC:4510 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HH8; CPPB1; GPR54; AXOR12; KISS-1R; HOT7T175 Summary The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
KIT, Official Symbol KITprovided by HGNC Official Full Name KIT proto-oncogene, receptor tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:6342 See related Ensembl:ENSG00000157404 MIM:164920; AllianceGenome:HGNC:6342 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PBT; SCFR; C-Kit; CD117; MASTC Summary This gene encodes a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical form of this glycosylated transmembrane protein has an N-terminal extracellular region with five immunoglobulin-like domains, a transmembrane region, and an intracellular tyrosine kinase domain at the C-terminus. Upon activation by its cytokine ligand, stem cell factor (SCF), this protein phosphorylates multiple intracellular proteins that play a role in in the proliferation, differentiation, migration and apoptosis of many cell types and thereby plays an important role in hematopoiesis, stem cell maintenance, gametogenesis, melanogenesis, and in mast cell development, migration and function. This protein can be a membrane-bound or soluble protein. Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020] Expression Broad expression in thyroid (RPKM 30.0), ovary (RPKM 23.0) and 21 other tissues See more Orthologs mouse all
KITLG, Official Symbol KITLGprovided by HGNC Official Full Name KIT ligandprovided by HGNC Primary source HGNC:HGNC:6343 See related Ensembl:ENSG00000049130 MIM:184745; AllianceGenome:HGNC:6343 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SF; MGF; SCF; SLF; DCUA; FPH2; FPHH; KL-1; Kitl; WS2F; SHEP7; DFNA69 Summary This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in lung (RPKM 24.5), colon (RPKM 14.0) and 22 other tissues See more Orthologs mouse all
KIZ, Official Symbol KIZprovided by HGNC Official Full Name kizuna centrosomal proteinprovided by HGNC Primary source HGNC:HGNC:15865 See related Ensembl:ENSG00000088970 MIM:615757; AllianceGenome:HGNC:15865 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RP69; HT013; Kizuna; PLK1S1; C20orf19; NCRNA00153 Summary The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] Expression Broad expression in testis (RPKM 20.1), ovary (RPKM 11.1) and 25 other tissues See more Orthologs mouse all
KIZ-AS1, Official Symbol KIZ-AS1provided by HGNC Official Full Name KIZ antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51231 See related Ensembl:ENSG00000232712 AllianceGenome:HGNC:51231 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
KL, Official Symbol KLprovided by HGNC Official Full Name klothoprovided by HGNC Primary source HGNC:HGNC:6344 See related Ensembl:ENSG00000133116 MIM:604824; AllianceGenome:HGNC:6344 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KLA; HFTC3 Summary This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 80.6), placenta (RPKM 14.7) and 1 other tissue See more Orthologs mouse all
KLB, Official Symbol KLBprovided by HGNC Official Full Name klotho betaprovided by HGNC Primary source HGNC:HGNC:15527 See related Ensembl:ENSG00000134962 MIM:611135; AllianceGenome:HGNC:15527 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BKL Summary Enables fibroblast growth factor binding activity and fibroblast growth factor receptor binding activity. Predicted to be involved in fibroblast growth factor receptor signaling pathway. Predicted to act upstream of or within positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway and positive regulation of cell population proliferation. Predicted to be located in plasma membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in fat (RPKM 16.3), liver (RPKM 5.1) and 2 other tissues See more Orthologs mouse all
KLC1, Official Symbol KLC1provided by HGNC Official Full Name kinesin light chain 1provided by HGNC Primary source HGNC:HGNC:6387 See related Ensembl:ENSG00000126214 MIM:600025; AllianceGenome:HGNC:6387 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KLC; KNS2; KNS2A Summary Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named "kinesin 2", this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature and/or biological validity of most of these variants have not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 108.4), heart (RPKM 21.0) and 23 other tissues See more Orthologs mouse all
KLC2, Official Symbol KLC2provided by HGNC Official Full Name kinesin light chain 2provided by HGNC Primary source HGNC:HGNC:20716 See related Ensembl:ENSG00000174996 MIM:611729; AllianceGenome:HGNC:20716 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene is a light chain of kinesin, a molecular motor responsible for moving vesicles and organelles along microtubules. Defects in this gene are a cause of spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. [provided by RefSeq, Mar 2016] Expression Broad expression in brain (RPKM 19.0), testis (RPKM 14.0) and 23 other tissues See more Orthologs mouse all
KLC3, Official Symbol KLC3provided by HGNC Official Full Name kinesin light chain 3provided by HGNC Primary source HGNC:HGNC:20717 See related Ensembl:ENSG00000104892 MIM:601334; AllianceGenome:HGNC:20717 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KLC2; KLCt; KLC2L; KNS2B Summary This gene encodes a member of the kinesin light chain gene family. Kinesins are molecular motors involved in the transport of cargo along microtubules, and are composed of two kinesin heavy chain (KHC) and two kinesin light chain (KLC) molecules. KLCs are thought to typically be involved in binding cargo and regulating kinesin activity. In the rat, a protein similar to this gene product is expressed in post-meiotic spermatids, where it associates with structural components of sperm tails and mitochondria. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 20.7), esophagus (RPKM 4.3) and 4 other tissues See more Orthologs mouse all
KLC4, Official Symbol KLC4provided by HGNC Official Full Name kinesin light chain 4provided by HGNC Primary source HGNC:HGNC:21624 See related Ensembl:ENSG00000137171 AllianceGenome:HGNC:21624 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KNSL8; bA387M24.3 Summary Predicted to be located in cytoplasm and microtubule. Predicted to be part of kinesin complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in duodenum (RPKM 24.3), small intestine (RPKM 22.1) and 25 other tissues See more Orthologs mouse all
KLC4-AS1, Official Symbol KLC4-AS1provided by HGNC Official Full Name KLC4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:55228 See related AllianceGenome:HGNC:55228 Gene type ncRNA RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KLF1, Official Symbol KLF1provided by HGNC Official Full Name KLF transcription factor 1provided by HGNC Primary source HGNC:HGNC:6345 See related Ensembl:ENSG00000105610 MIM:600599; AllianceGenome:HGNC:6345 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EKLF; EKLF/KLF1 Summary This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009] Expression Restricted expression toward bone marrow (RPKM 14.0) See more Orthologs mouse all
KLF10, Official Symbol KLF10provided by HGNC Official Full Name KLF transcription factor 10provided by HGNC Primary source HGNC:HGNC:11810 See related Ensembl:ENSG00000155090 MIM:601878; AllianceGenome:HGNC:11810 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EGRA; TIEG; TIEG1; EGR-alpha Summary This gene encodes a member of a family of proteins that feature C2H2-type zinc finger domains. The encoded protein is a transcriptional repressor that acts as an effector of transforming growth factor beta signaling. Activity of this protein may inhibit the growth of cancers, particularly pancreatic cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] Expression Ubiquitous expression in bone marrow (RPKM 49.9), gall bladder (RPKM 37.2) and 25 other tissues See more Orthologs mouse all
KLF11, Official Symbol KLF11provided by HGNC Official Full Name KLF transcription factor 11provided by HGNC Primary source HGNC:HGNC:11811 See related Ensembl:ENSG00000172059 MIM:603301; AllianceGenome:HGNC:11811 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FKLF; FKLF1; MODY7; TIEG2; Tieg3 Summary The protein encoded by this gene is a zinc finger transcription factor that binds to SP1-like sequences in epsilon- and gamma-globin gene promoters. This binding inhibits cell growth and causes apoptosis. Defects in this gene are a cause of maturity-onset diabetes of the young type 7 (MODY7). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] Expression Ubiquitous expression in testis (RPKM 20.2), lung (RPKM 12.4) and 25 other tissues See more Orthologs mouse all
KLF12, Official Symbol KLF12provided by HGNC Official Full Name KLF transcription factor 12provided by HGNC Primary source HGNC:HGNC:6346 See related Ensembl:ENSG00000118922 MIM:607531; AllianceGenome:HGNC:6346 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AP2REP; AP-2rep; HSPC122 Summary Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 6.4), spleen (RPKM 4.4) and 24 other tissues See more Orthologs mouse all