psui3905/ncbi_genes_summary huggingface dataset:
KCNQ1-AS1, Official Symbol KCNQ1-AS1provided by HGNC Official Full Name KCNQ1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:42790 See related Ensembl:ENSG00000229414 AllianceGenome:HGNC:42790 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
KCNQ1DN, Official Symbol KCNQ1DNprovided by HGNC Official Full Name KCNQ1 downstream neighborprovided by HGNC Primary source HGNC:HGNC:13335 See related Ensembl:ENSG00000237941 MIM:610980; AllianceGenome:HGNC:13335 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 BWRT; HSA404617 Summary Imprinting is a phenomenon in which epigenetic modifications lead to expression or suppression of alleles of some genes based on their parental origin. Wilms tumor-2 (WT2; MIM 194071) is defined by maternal-specific loss of heterozygosity of a critical region on chromosome 11p15.5 that includes several imprinted genes. KCNQ1DN is an imprinted gene located within the WT2 critical region that is expressed from the maternal allele (Xin et al., 2000 [PubMed 11056398]).[supplied by OMIM, Mar 2008] Expression Restricted expression toward testis (RPKM 1.3) See more
KCNQ1OT1, Official Symbol KCNQ1OT1provided by HGNC Official Full Name KCNQ1 opposite strand/antisense transcript 1provided by HGNC Primary source HGNC:HGNC:6295 See related Ensembl:ENSG00000269821 MIM:604115; AllianceGenome:HGNC:6295 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LIT1; Kncq1; KvDMR1; KCNQ10T1; KCNQ1-AS2; KvLQT1-AS; NCRNA00012 Summary Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting control region (ICR). The human CDKN1C/KCNQ1OT1 domain is regulated by an ICR located in an intron of KCNQ1, and contains at least eight genes that are expressed exclusively or preferentially from the maternally-inherited allele. The DNA of the ICR is specifically methylated on the maternally-inherited chromosome, and unmethylated on the paternally-inherited chromosome. The ICR contains the promoter of the KCNQ1OT1 gene that is exclusively expressed from the paternal allele. The KCNQ1OT1 transcript is the antisense to the KCNQ1 gene and is a unspliced long non-coding RNA. It interacts with chromatin and regulates transcription of multiple target genes through epigenetic modifications. The transcript is abnormally expressed from both chromosomes in most patients with Beckwith-Wiedemann syndrome, and the transcript also plays an important role in colorectal carcinogenesis. [provided by RefSeq, Apr 2012]
KCNQ2, Official Symbol KCNQ2provided by HGNC Official Full Name potassium voltage-gated channel subfamily Q member 2provided by HGNC Primary source HGNC:HGNC:6296 See related Ensembl:ENSG00000075043 MIM:602235; AllianceGenome:HGNC:6296 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 EBN; BFNC; DEE7; EBN1; ENB1; HNSPC; KV7.2; KCNA11 Summary The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 15.5), adrenal (RPKM 2.3) and 1 other tissue See more Orthologs mouse all
KCNQ2-AS1, Official Symbol KCNQ2-AS1provided by HGNC Official Full Name KCNQ2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40321 See related AllianceGenome:HGNC:40321 Gene type ncRNA RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 1.5) See more
KCNQ3, Official Symbol KCNQ3provided by HGNC Official Full Name potassium voltage-gated channel subfamily Q member 3provided by HGNC Primary source HGNC:HGNC:6297 See related Ensembl:ENSG00000184156 MIM:602232; AllianceGenome:HGNC:6297 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 EBN2; BFNC2; KV7.3 Summary This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] Expression Biased expression in brain (RPKM 5.1) and adrenal (RPKM 0.4) See more Orthologs mouse all
KCNQ4, Official Symbol KCNQ4provided by HGNC Official Full Name potassium voltage-gated channel subfamily Q member 4provided by HGNC Primary source HGNC:HGNC:6298 See related Ensembl:ENSG00000117013 MIM:603537; AllianceGenome:HGNC:6298 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 DFNA2; KV7.4; DFNA2A Summary The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 1.8), prostate (RPKM 1.3) and 24 other tissues See more Orthologs mouse all
KCNQ5, Official Symbol KCNQ5provided by HGNC Official Full Name potassium voltage-gated channel subfamily Q member 5provided by HGNC Primary source HGNC:HGNC:6299 See related Ensembl:ENSG00000185760 MIM:607357; AllianceGenome:HGNC:6299 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 Kv7.5; MRD46 Summary This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Expression Biased expression in brain (RPKM 8.7), thyroid (RPKM 2.7) and 6 other tissues See more Orthologs mouse all
KCNQ5-AS1, Official Symbol KCNQ5-AS1provided by HGNC Official Full Name KCNQ5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40323 See related Ensembl:ENSG00000229154 AllianceGenome:HGNC:40323 Gene type ncRNA RefSeq status PREDICTED 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
KCNRG, Official Symbol KCNRGprovided by HGNC Official Full Name potassium channel regulatorprovided by HGNC Primary source HGNC:HGNC:18893 See related Ensembl:ENSG00000198553 MIM:607947; AllianceGenome:HGNC:18893 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 DLTET Summary This gene encodes a protein which regulates the activity of voltage-gated potassium channels. This gene is on chromosome 13 and overlaps the gene for tripartite motif containing 13 on the same strand. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] Expression Broad expression in testis (RPKM 38.4), bone marrow (RPKM 16.2) and 24 other tissues See more Orthologs mouse all
KCNS1, Official Symbol KCNS1provided by HGNC Official Full Name potassium voltage-gated channel modifier subfamily S member 1provided by HGNC Primary source HGNC:HGNC:6300 See related Ensembl:ENSG00000124134 MIM:602905; AllianceGenome:HGNC:6300 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 Kv9.1 Summary Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 2.8), gall bladder (RPKM 1.3) and 3 other tissues See more Orthologs mouse all
KCNS2, Official Symbol KCNS2provided by HGNC Official Full Name potassium voltage-gated channel modifier subfamily S member 2provided by HGNC Primary source HGNC:HGNC:6301 See related Ensembl:ENSG00000156486 MIM:602906; AllianceGenome:HGNC:6301 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 KV9.2 Summary Predicted to enable voltage-gated potassium channel activity. Predicted to be involved in potassium ion transmembrane transport and regulation of delayed rectifier potassium channel activity. Predicted to be located in perinuclear region of cytoplasm and plasma membrane. Predicted to be part of voltage-gated potassium channel complex. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 4.8), urinary bladder (RPKM 1.1) and 8 other tissues See more Orthologs mouse all
KCNS3, Official Symbol KCNS3provided by HGNC Official Full Name potassium voltage-gated channel modifier subfamily S member 3provided by HGNC Primary source HGNC:HGNC:6302 See related Ensembl:ENSG00000170745 MIM:603888; AllianceGenome:HGNC:6302 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 KV9.3 Summary Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013] Expression Broad expression in lung (RPKM 12.4), placenta (RPKM 5.3) and 18 other tissues See more Orthologs mouse all
KCNT1, Official Symbol KCNT1provided by HGNC Official Full Name potassium sodium-activated channel subfamily T member 1provided by HGNC Primary source HGNC:HGNC:18865 See related Ensembl:ENSG00000107147 MIM:608167; AllianceGenome:HGNC:18865 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 DEE14; ENFL5; SLACK; EIEE14; KCa4.1; Slo2.2; bA100C15.2 Summary Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] Expression Biased expression in brain (RPKM 4.3), spleen (RPKM 2.1) and 2 other tissues See more Orthologs mouse all
KCNT2, Official Symbol KCNT2provided by HGNC Official Full Name potassium sodium-activated channel subfamily T member 2provided by HGNC Primary source HGNC:HGNC:18866 See related Ensembl:ENSG00000162687 MIM:610044; AllianceGenome:HGNC:18866 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 DEE57; SLICK; EIEE57; KCa4.2; SLO2.1 Summary Enables chloride-activated potassium channel activity. Involved in potassium ion export across plasma membrane. Located in plasma membrane. Implicated in developmental and epileptic encephalopathy 57. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in ovary (RPKM 1.6), lung (RPKM 0.9) and 22 other tissues See more Orthologs mouse all
KCNU1, Official Symbol KCNU1provided by HGNC Official Full Name potassium calcium-activated channel subfamily U member 1provided by HGNC Primary source HGNC:HGNC:18867 See related Ensembl:ENSG00000215262 MIM:615215; AllianceGenome:HGNC:18867 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 KCa5; Slo3; KCNMC1; KCa5.1; Kcnma3; SPGF79 Summary This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Restricted expression toward testis (RPKM 4.3) See more Orthologs mouse all
KCNV1, Official Symbol KCNV1provided by HGNC Official Full Name potassium voltage-gated channel modifier subfamily V member 1provided by HGNC Primary source HGNC:HGNC:18861 See related Ensembl:ENSG00000164794 MIM:608164; AllianceGenome:HGNC:18861 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 HNKA; KCNB3; KV2.3; KV8.1 Summary Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types. [provided by RefSeq, Jul 2008] Expression Restricted expression toward brain (RPKM 7.0) See more Orthologs mouse all
KCNV2, Official Symbol KCNV2provided by HGNC Official Full Name potassium voltage-gated channel modifier subfamily V member 2provided by HGNC Primary source HGNC:HGNC:19698 See related Ensembl:ENSG00000168263 MIM:607604; AllianceGenome:HGNC:19698 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 Kv8.2; RCD3B; KV11.1 Summary Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 2.7) See more Orthologs mouse all
KCP, Official Symbol KCPprovided by HGNC Official Full Name kielin cysteine rich BMP regulatorprovided by HGNC Primary source HGNC:HGNC:17585 See related Ensembl:ENSG00000135253 MIM:609344; AllianceGenome:HGNC:17585 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 KCP1; CRIM2; NET67 Summary Predicted to act upstream of or within hematopoietic progenitor cell differentiation and positive regulation of BMP signaling pathway. Predicted to be located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 3.0), fat (RPKM 0.8) and 8 other tissues See more Orthologs mouse all
KCTD1, Official Symbol KCTD1provided by HGNC Official Full Name potassium channel tetramerization domain containing 1provided by HGNC Primary source HGNC:HGNC:18249 See related Ensembl:ENSG00000134504 MIM:613420; AllianceGenome:HGNC:18249 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 C18orf5 Summary This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors and the Wnt signaling pathway. A mechanism for the modulation of Wnt signaling has been proposed in which the encoded protein enhances ubiquitination and degradation of the beta-catenin protein. Mutations in this gene have been identified in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017] Expression Broad expression in skin (RPKM 10.7), esophagus (RPKM 8.1) and 21 other tissues See more Orthologs mouse all
KCTD10, Official Symbol KCTD10provided by HGNC Official Full Name potassium channel tetramerization domain containing 10provided by HGNC Primary source HGNC:HGNC:23236 See related Ensembl:ENSG00000110906 MIM:613421; AllianceGenome:HGNC:23236 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 BTBD28; ULRO61; MSTP028; hBACURD3 Summary The protein encoded by this gene binds proliferating cell nuclear antigen (PCNA) and may be involved in DNA synthesis and cell proliferation. In addition, the encoded protein may be a tumor suppressor. Several protein-coding and non-protein coding transcript variants have been found for this gene. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in thyroid (RPKM 26.1), endometrium (RPKM 18.7) and 24 other tissues See more Orthologs mouse all
KCTD10P1, Official Symbol KCTD10P1provided by HGNC Official Full Name potassium channel tetramerization domain containing 10 pseudogene 1provided by HGNC Primary source HGNC:HGNC:49807 See related Ensembl:ENSG00000224955 AllianceGenome:HGNC:49807 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KCTD11, Official Symbol KCTD11provided by HGNC Official Full Name potassium channel tetramerization domain containing 11provided by HGNC Primary source HGNC:HGNC:21302 See related Ensembl:ENSG00000213859 MIM:609848; AllianceGenome:HGNC:21302 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 REN; KCASH1; C17orf36; REN/KCTD11 Summary Enables identical protein binding activity. Predicted to be involved in positive regulation of neuron differentiation. Predicted to act upstream of or within negative regulation of neuroblast proliferation and negative regulation of smoothened signaling pathway. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
KCTD12, Official Symbol KCTD12provided by HGNC Official Full Name potassium channel tetramerization domain containing 12provided by HGNC Primary source HGNC:HGNC:14678 See related Ensembl:ENSG00000178695 MIM:610521; AllianceGenome:HGNC:14678 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 PFET1; PFETIN; C13orf2 Summary Enables identical protein binding activity. Predicted to be involved in protein homooligomerization. Predicted to act upstream of or within regulation of G protein-coupled receptor signaling pathway. Predicted to be located in cell projection. Predicted to be part of receptor complex. Predicted to be active in postsynaptic membrane and presynaptic membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
KCTD13, Official Symbol KCTD13provided by HGNC Official Full Name potassium channel tetramerization domain containing 13provided by HGNC Primary source HGNC:HGNC:22234 See related Ensembl:ENSG00000174943 MIM:608947; AllianceGenome:HGNC:22234 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 PDIP1; FKSG86; BACURD1; POLDIP1; hBACURD1 Summary Enables identical protein binding activity and small GTPase binding activity. Contributes to ubiquitin-protein transferase activity. Involved in several processes, including cellular protein metabolic process; negative regulation of Rho protein signal transduction; and stress fiber assembly. Located in nuclear body. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 12.8), brain (RPKM 4.9) and 23 other tissues See more Orthologs mouse all
KCTD14, Official Symbol KCTD14provided by HGNC Official Full Name potassium channel tetramerization domain containing 14provided by HGNC Primary source HGNC:HGNC:23295 See related Ensembl:ENSG00000151364 AllianceGenome:HGNC:23295 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 be involved in protein homooligomerization. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in adrenal (RPKM 10.1), stomach (RPKM 9.5) and 17 other tissues See more Orthologs mouse all
KCTD15, Official Symbol KCTD15provided by HGNC Official Full Name potassium channel tetramerization domain containing 15provided by HGNC Primary source HGNC:HGNC:23297 See related Ensembl:ENSG00000153885 MIM:615240; AllianceGenome:HGNC:23297 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. Predicted to be involved in protein homooligomerization. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 22.8), endometrium (RPKM 7.8) and 21 other tissues See more Orthologs mouse all
KCTD16, Official Symbol KCTD16provided by HGNC Official Full Name potassium channel tetramerization domain containing 16provided by HGNC Primary source HGNC:HGNC:29244 See related Ensembl:ENSG00000183775 MIM:613423; AllianceGenome:HGNC:29244 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 be involved in protein homooligomerization. Predicted to act upstream of or within regulation of G protein-coupled receptor signaling pathway. Predicted to be located in cell projection. Predicted to be part of receptor complex. Predicted to be active in postsynaptic membrane and presynaptic membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 4.6), lung (RPKM 0.4) and 3 other tissues See more Orthologs mouse all
KCTD17, Official Symbol KCTD17provided by HGNC Official Full Name potassium channel tetramerization domain containing 17provided by HGNC Primary source HGNC:HGNC:25705 See related Ensembl:ENSG00000100379 MIM:616386; AllianceGenome:HGNC:25705 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 protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugating enzyme E3 ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation in this gene is associated with autosomal dominant myoclonic dystonia 26. [provided by RefSeq, Nov 2016] Expression Broad expression in brain (RPKM 11.5), testis (RPKM 10.6) and 22 other tissues See more Orthologs mouse all
KCTD18, Official Symbol KCTD18provided by HGNC Official Full Name potassium channel tetramerization domain containing 18provided by HGNC Primary source HGNC:HGNC:26446 See related Ensembl:ENSG00000155729 AllianceGenome:HGNC:26446 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 6530404F10Rik Summary Predicted to be involved in protein homooligomerization. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 8.4), prostate (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
KCTD19, Official Symbol KCTD19provided by HGNC Official Full Name potassium channel tetramerization domain containing 19provided by HGNC Primary source HGNC:HGNC:24753 See related Ensembl:ENSG00000168676 MIM:619943; AllianceGenome:HGNC:24753 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 be involved in protein homooligomerization. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 29.8) See more Orthologs mouse all
KCTD2, Official Symbol KCTD2provided by HGNC Official Full Name potassium channel tetramerization domain containing 2provided by HGNC Primary source HGNC:HGNC:21294 See related Ensembl:ENSG00000180901 MIM:613422; AllianceGenome:HGNC:21294 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 cullin family protein binding activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 22.9), brain (RPKM 16.4) and 24 other tissues See more Orthologs mouse all
KCTD20, Official Symbol KCTD20provided by HGNC Official Full Name potassium channel tetramerization domain containing 20provided by HGNC Primary source HGNC:HGNC:21052 See related Ensembl:ENSG00000112078 MIM:615932; AllianceGenome:HGNC:21052 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 C6orf69; dJ108K11.3 Summary Predicted to enable identical protein binding activity. Predicted to be involved in positive regulation of phosphorylation. Predicted to be integral component of membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 16.9), gall bladder (RPKM 16.8) and 25 other tissues See more Orthologs mouse all
KCTD21, Official Symbol KCTD21provided by HGNC Official Full Name potassium channel tetramerization domain containing 21provided by HGNC Primary source HGNC:HGNC:27452 See related Ensembl:ENSG00000188997 MIM:618790; AllianceGenome:HGNC:27452 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 KCASH2 Summary Enables cullin family protein binding activity; histone deacetylase binding activity; and identical protein binding activity. Involved in negative regulation of smoothened signaling pathway and ubiquitin-dependent protein catabolic process. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 3.5), brain (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
KCTD21-AS1, Official Symbol KCTD21-AS1provided by HGNC Official Full Name KCTD21 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48674 See related Ensembl:ENSG00000246174 AllianceGenome:HGNC:48674 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 Ubiquitous expression in thyroid (RPKM 11.7), brain (RPKM 11.4) and 25 other tissues See more
KCTD3, Official Symbol KCTD3provided by HGNC Official Full Name potassium channel tetramerization domain containing 3provided by HGNC Primary source HGNC:HGNC:21305 See related Ensembl:ENSG00000136636 MIM:613272; AllianceGenome:HGNC:21305 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 NY-REN-45 Summary This gene encodes a member of the potassium channel tetramerization-domain containing (KCTD) protein family. Members of this protein family regulate the biophysical characteristics of ion channels. In mouse, this protein interacts with hyperpolarization-activated cyclic nucleotide-gated channel complex 3 and enhances its cell surface expression and current density. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in adrenal (RPKM 47.4), small intestine (RPKM 24.0) and 25 other tissues See more Orthologs mouse all
KCTD4, Official Symbol KCTD4provided by HGNC Official Full Name potassium channel tetramerization domain containing 4provided by HGNC Primary source HGNC:HGNC:23227 See related Ensembl:ENSG00000180332 AllianceGenome:HGNC:23227 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 bA321C24.3 Summary Predicted to be involved in protein homooligomerization. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 6.1), skin (RPKM 1.4) and 1 other tissue See more Orthologs mouse all
KCTD5, Official Symbol KCTD5provided by HGNC Official Full Name potassium channel tetramerization domain containing 5provided by HGNC Primary source HGNC:HGNC:21423 See related Ensembl:ENSG00000167977 MIM:611285; AllianceGenome:HGNC:21423 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. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 15.1), esophagus (RPKM 11.8) and 25 other tissues See more Orthologs mouse all
KCTD6, Official Symbol KCTD6provided by HGNC Official Full Name potassium channel tetramerization domain containing 6provided by HGNC Primary source HGNC:HGNC:22235 See related Ensembl:ENSG00000168301 MIM:618791; AllianceGenome:HGNC:22235 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 KCASH3 Summary Enables ankyrin binding activity; cullin family protein binding activity; and identical protein binding activity. Involved in negative regulation of smoothened signaling pathway and ubiquitin-dependent protein catabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 6.8), endometrium (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
KCTD7, Official Symbol KCTD7provided by HGNC Official Full Name potassium channel tetramerization domain containing 7provided by HGNC Primary source HGNC:HGNC:21957 See related Ensembl:ENSG00000243335 MIM:611725; AllianceGenome:HGNC:21957 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 EPM3; CLN14 Summary This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] Expression Ubiquitous expression in testis (RPKM 11.8), brain (RPKM 8.8) and 23 other tissues See more Orthologs mouse all
KCTD8, Official Symbol KCTD8provided by HGNC Official Full Name potassium channel tetramerization domain containing 8provided by HGNC Primary source HGNC:HGNC:22394 See related Ensembl:ENSG00000183783 MIM:618442; AllianceGenome:HGNC:22394 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 be involved in regulation of G protein-coupled receptor signaling pathway. Predicted to be located in cell projection; postsynaptic membrane; and presynaptic membrane. Predicted to be integral component of membrane. Predicted to be part of receptor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 3.7), thyroid (RPKM 1.4) and 7 other tissues See more Orthologs mouse all
KCTD9, Official Symbol KCTD9provided by HGNC Official Full Name potassium channel tetramerization domain containing 9provided by HGNC Primary source HGNC:HGNC:22401 See related Ensembl:ENSG00000104756 MIM:617265; AllianceGenome:HGNC:22401 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 BTBD27 Summary Enables cullin family protein binding activity; identical protein binding activity; and protein self-association. Predicted to be involved in intracellular signal transduction; protein homooligomerization; and protein ubiquitination. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 8.3), esophagus (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
KCTD9P5, Official Symbol KCTD9P5provided by HGNC Official Full Name potassium channel tetramerization domain containing 9 pseudogene 5provided by HGNC Primary source HGNC:HGNC:49914 See related AllianceGenome:HGNC:49914 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KCTD9P6, Official Symbol KCTD9P6provided by HGNC Official Full Name potassium channel tetramerization domain containing 9 pseudogene 6provided by HGNC Primary source HGNC:HGNC:49915 See related AllianceGenome:HGNC:49915 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
KDELR1, Official Symbol KDELR1provided by HGNC Official Full Name KDEL endoplasmic reticulum protein retention receptor 1provided by HGNC Primary source HGNC:HGNC:6304 See related Ensembl:ENSG00000105438 MIM:131235; AllianceGenome:HGNC:6304 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 ERD2; HDEL; PM23; ERD2.1 Summary 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] Expression Ubiquitous expression in ovary (RPKM 78.6), thyroid (RPKM 73.5) and 25 other tissues See more Orthologs mouse all
KDELR2, Official Symbol KDELR2provided by HGNC Official Full Name KDEL endoplasmic reticulum protein retention receptor 2provided by HGNC Primary source HGNC:HGNC:6305 See related Ensembl:ENSG00000136240 MIM:609024; AllianceGenome:HGNC:6305 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 ELP1; OI21; ELP-1; ERD2.2 Summary 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] Expression Ubiquitous expression in placenta (RPKM 79.8), stomach (RPKM 78.5) and 25 other tissues See more Orthologs mouse all
KDELR3, Official Symbol KDELR3provided by HGNC Official Full Name KDEL endoplasmic reticulum protein retention receptor 3provided by HGNC Primary source HGNC:HGNC:6306 See related Ensembl:ENSG00000100196 MIM:619900; AllianceGenome:HGNC:6306 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 ERD23; ERD2L3 Summary 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] Expression Ubiquitous expression in stomach (RPKM 15.1), gall bladder (RPKM 11.6) and 23 other tissues See more Orthologs mouse all
KDF1, Official Symbol KDF1provided by HGNC Official Full Name keratinocyte differentiation factor 1provided by HGNC Primary source HGNC:HGNC:26624 See related Ensembl:ENSG00000175707 MIM:616758; AllianceGenome:HGNC:26624 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 ECTD12; C1orf172 Summary Predicted to be involved in several processes, including positive regulation of epidermal cell differentiation; regulation of epidermal cell division; and skin development. Predicted to act upstream of or within keratinocyte development and negative regulation of keratinocyte proliferation. Located in cell junction; mitotic spindle; and nucleoplasm. Implicated in ectodermal dysplasia 12. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 5.3), duodenum (RPKM 5.2) and 18 other tissues See more Orthologs mouse all