psui3905/ncbi_genes_summary huggingface dataset:
TCAM1P, Official Symbol TCAM1Pprovided by HGNC Official Full Name testicular cell adhesion molecule 1, pseudogeneprovided by HGNC Primary source HGNC:HGNC:30707 See related Ensembl:ENSG00000240280 MIM:612756; AllianceGenome:HGNC:30707 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCAM1 Summary This pseudogene is located downstream from the growth hormone locus on chromosome 17. This locus evolved by a series of partial duplications that have disrupted the human gene. A homologous gene in mouse encodes a testis-specific cell adhesion protein that may play a role in germ cell-Sertoli cell interactions. [provided by RefSeq, Apr 2012] Expression Restricted expression toward testis (RPKM 8.7) See more
TCAP, Official Symbol TCAPprovided by HGNC Official Full Name titin-capprovided by HGNC Primary source HGNC:HGNC:11610 See related Ensembl:ENSG00000173991 MIM:604488; AllianceGenome:HGNC:11610 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 TELE; CMD1N; CMH25; T-cap; LGMD2G; LGMDR7; telethonin Summary Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008] Expression Restricted expression toward heart (RPKM 1072.6) See more Orthologs mouse all
TCEA1, Official Symbol TCEA1provided by HGNC Official Full Name transcription elongation factor A1provided by HGNC Primary source HGNC:HGNC:11612 See related Ensembl:ENSG00000187735 MIM:601425; AllianceGenome:HGNC:11612 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 SII; TCEA; TF2S; GTF2S; TFIIS Summary Predicted to enable DNA binding activity; translation elongation factor activity; and zinc ion binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within erythrocyte differentiation and positive regulation of transcription, DNA-templated. Located in nucleolus and nucleoplasm. Part of transcription factor TFIID complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 66.3), lymph node (RPKM 39.6) and 25 other tissues See more Orthologs mouse all
TCEA2, Official Symbol TCEA2provided by HGNC Official Full Name transcription elongation factor A2provided by HGNC Primary source HGNC:HGNC:11614 See related Ensembl:ENSG00000171703 MIM:604784; AllianceGenome:HGNC:11614 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 TFIIS Summary The protein encoded by this gene is found in the nucleus, where it functions as an SII class transcription elongation factor. Elongation factors in this class are responsible for releasing RNA polymerase II ternary complexes from transcriptional arrest at template-encoded arresting sites. The encoded protein has been shown to interact with general transcription factor IIB, a basal transcription factor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 9.5), brain (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
TCEA3, Official Symbol TCEA3provided by HGNC Official Full Name transcription elongation factor A3provided by HGNC Primary source HGNC:HGNC:11615 See related Ensembl:ENSG00000204219 MIM:604128; AllianceGenome:HGNC:11615 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 TFIIS; TFIIS.H Summary Predicted to enable DNA binding activity and zinc ion binding activity. Predicted to be involved in regulation of transcription, DNA-templated and transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 19.3), ovary (RPKM 18.5) and 23 other tissues See more Orthologs mouse all
TCEAL1, Official Symbol TCEAL1provided by HGNC Official Full Name transcription elongation factor A like 1provided by HGNC Primary source HGNC:HGNC:11616 See related Ensembl:ENSG00000172465 MIM:300237; AllianceGenome:HGNC:11616 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 p21; SIIR; WEX9; pp21; NEDGFAX Summary This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. The encoded protein is similar to transcription elongation factor A/transcription factor SII and contains a zinc finger-like motif as well as a sequence related to the transcription factor SII Pol II-binding region. It may exert its effects via protein-protein interactions with other transcriptional regulators rather than via direct binding of DNA. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 48.1), endometrium (RPKM 41.3) and 24 other tissues See more Orthologs mouse all
TCEAL2, Official Symbol TCEAL2provided by HGNC Official Full Name transcription elongation factor A like 2provided by HGNC Primary source HGNC:HGNC:29818 See related Ensembl:ENSG00000184905 AllianceGenome:HGNC:29818 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 WEX1; my048; MY0876G05 Summary This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 71.1), ovary (RPKM 27.9) and 8 other tissues See more Orthologs all
TCEAL3, Official Symbol TCEAL3provided by HGNC Official Full Name transcription elongation factor A like 3provided by HGNC Primary source HGNC:HGNC:28247 See related Ensembl:ENSG00000196507 AllianceGenome:HGNC:28247 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 WEX8 Summary This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 39.3), brain (RPKM 35.9) and 25 other tissues See more Orthologs mouse all
TCEAL3-AS1, Official Symbol TCEAL3-AS1provided by HGNC Official Full Name TCEAL3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41191 See related AllianceGenome:HGNC:41191 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
TCEAL4, Official Symbol TCEAL4provided by HGNC Official Full Name transcription elongation factor A like 4provided by HGNC Primary source HGNC:HGNC:26121 See related Ensembl:ENSG00000133142 AllianceGenome:HGNC:26121 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 WEX7; NPD017 Summary This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. This family is comprised of nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternatively splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 13. [provided by RefSeq, Apr 2015] Expression Ubiquitous expression in ovary (RPKM 91.3), endometrium (RPKM 75.4) and 23 other tissues See more Orthologs all
TCEAL4P1, Official Symbol TCEAL4P1provided by HGNC Official Full Name transcription elongation factor A like 4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39582 See related Ensembl:ENSG00000223543 AllianceGenome:HGNC:39582 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TCEAL5, Official Symbol TCEAL5provided by HGNC Official Full Name transcription elongation factor A like 5provided by HGNC Primary source HGNC:HGNC:22282 See related Ensembl:ENSG00000204065 AllianceGenome:HGNC:22282 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 WEX4 Summary This gene, which is located on the X chromosome, encodes a protein which contains a BEX (brain expressed X-liked like family) domain. This domain is found in proteins encoded by the TCEAL elongation factor (transcription elongation factor A (SII)-like) gene family also located on the X chromosome. The coding region for this gene is located entirely in the terminal exon. [provided by RefSeq, Sep 2011] Expression Biased expression in testis (RPKM 33.5), brain (RPKM 32.2) and 3 other tissues See more Orthologs mouse all
TCEAL6, Official Symbol TCEAL6provided by HGNC Official Full Name transcription elongation factor A like 6provided by HGNC Primary source HGNC:HGNC:24553 See related AllianceGenome:HGNC:24553 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 WEX2; Tceal3 Summary Predicted to enable WW domain binding activity. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Annotation category: suggests misassembly Expression Biased expression in brain (RPKM 18.6), testis (RPKM 12.2) and 4 other tissues See more Orthologs all
TCEAL7, Official Symbol TCEAL7provided by HGNC Official Full Name transcription elongation factor A like 7provided by HGNC Primary source HGNC:HGNC:28336 See related Ensembl:ENSG00000182916 MIM:300771; AllianceGenome:HGNC:28336 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 WEX5 Summary Predicted to enable WW domain binding activity. Involved in negative regulation of NF-kappaB transcription factor activity and negative regulation of transcription, DNA-templated. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 45.0), endometrium (RPKM 18.0) and 11 other tissues See more Orthologs mouse all
TCEAL8, Official Symbol TCEAL8provided by HGNC Official Full Name transcription elongation factor A like 8provided by HGNC Primary source HGNC:HGNC:28683 See related Ensembl:ENSG00000180964 AllianceGenome:HGNC:28683 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 WEX3 Summary This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 33.7), urinary bladder (RPKM 29.7) and 25 other tissues See more Orthologs mouse all
TCEAL9, Official Symbol TCEAL9provided by HGNC Official Full Name transcription elongation factor A like 9provided by HGNC Primary source HGNC:HGNC:30084 See related Ensembl:ENSG00000185222 AllianceGenome:HGNC:30084 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 WBP5; WEX6 Summary The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein. This gene also encodes a domain with similarity to the transcription elongation factor A, SII-related family. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 88.8), ovary (RPKM 84.9) and 23 other tissues See more Orthologs mouse all
TCEANC, Official Symbol TCEANCprovided by HGNC Official Full Name transcription elongation factor A N-terminal and central domain containingprovided by HGNC Primary source HGNC:HGNC:28277 See related Ensembl:ENSG00000176896 MIM:301084; AllianceGenome:HGNC:28277 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 TCEANC1 Summary Predicted to be involved in transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 1.6), thyroid (RPKM 1.5) and 25 other tissues See more Orthologs mouse all
TCEANC2, Official Symbol TCEANC2provided by HGNC Official Full Name transcription elongation factor A N-terminal and central domain containing 2provided by HGNC Primary source HGNC:HGNC:26494 See related Ensembl:ENSG00000116205 AllianceGenome:HGNC:26494 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 C1orf83 Summary Predicted to be involved in transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 1.1), lymph node (RPKM 0.8) and 25 other tissues See more Orthologs mouse all
TCERG1, Official Symbol TCERG1provided by HGNC Official Full Name transcription elongation regulator 1provided by HGNC Primary source HGNC:HGNC:15630 See related Ensembl:ENSG00000113649 MIM:605409; AllianceGenome:HGNC:15630 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 Urn1; CA150; TAF2S Summary This gene encodes a nuclear protein that regulates transcriptional elongation and pre-mRNA splicing. The encoded protein interacts with the hyperphosphorylated C-terminal domain of RNA polymerase II via multiple FF domains, and with the pre-mRNA splicing factor SF1 via a WW domain. Alternative splicing results in multiple transcripts variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 13.4), bone marrow (RPKM 13.0) and 25 other tissues See more Orthologs mouse all
TCERG1L, Official Symbol TCERG1Lprovided by HGNC Official Full Name transcription elongation regulator 1 likeprovided by HGNC Primary source HGNC:HGNC:23533 See related Ensembl:ENSG00000176769 MIM:620498; AllianceGenome:HGNC:23533 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 RNA polymerase binding activity and transcription coregulator activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in thyroid (RPKM 8.1), ovary (RPKM 1.2) and 2 other tissues See more Orthologs mouse all
TCERG1L-AS1, Official Symbol TCERG1L-AS1provided by HGNC Official Full Name TCERG1L antisense RNA 1provided by HGNC Primary source HGNC:HGNC:49532 See related Ensembl:ENSG00000230098 AllianceGenome:HGNC:49532 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
TCERG1P1, Official Symbol TCERG1P1provided by HGNC Official Full Name TCERG1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:55056 See related Ensembl:ENSG00000224314 AllianceGenome:HGNC:55056 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TCF12, Official Symbol TCF12provided by HGNC Official Full Name transcription factor 12provided by HGNC Primary source HGNC:HGNC:11623 See related Ensembl:ENSG00000140262 MIM:600480; AllianceGenome:HGNC:11623 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 HEB; p64; CRS3; HH26; HTF4; TCF-12; bHLHb20; HsT17266 Summary The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 23.3), endometrium (RPKM 15.8) and 25 other tissues See more Orthologs mouse all
TCF15, Official Symbol TCF15provided by HGNC Official Full Name transcription factor 15provided by HGNC Primary source HGNC:HGNC:11627 See related Ensembl:ENSG00000125878 MIM:601010; AllianceGenome:HGNC:11627 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 EC2; PARAXIS; bHLHa40 Summary The protein encoded by this gene is found in the nucleus and may be involved in the early transcriptional regulation of patterning of the mesoderm. The encoded basic helix-loop-helix protein requires dimerization with another basic helix-loop-helix protein for efficient DNA binding. [provided by RefSeq, Jul 2008] Expression Biased expression in fat (RPKM 5.9), heart (RPKM 2.3) and 3 other tissues See more Orthologs mouse all
TCF19, Official Symbol TCF19provided by HGNC Official Full Name transcription factor 19provided by HGNC Primary source HGNC:HGNC:11629 See related Ensembl:ENSG00000137310 MIM:600912; AllianceGenome:HGNC:11629 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 SC1; TCF-19 Summary This gene encodes a protein that contains a PHD-type zinc finger domain and likely functions as a transcription factor. The encoded protein plays a role proliferation and apoptosis of pancreatic beta cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in lymph node (RPKM 8.0), appendix (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
TCF20, Official Symbol TCF20provided by HGNC Official Full Name transcription factor 20provided by HGNC Primary source HGNC:HGNC:11631 See related Ensembl:ENSG00000100207 MIM:603107; AllianceGenome:HGNC:11631 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 AR1; SPBP; DDVIBA; TCF-20 Summary This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] Expression Ubiquitous expression in testis (RPKM 9.0), thyroid (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
TCF21, Official Symbol TCF21provided by HGNC Official Full Name transcription factor 21provided by HGNC Primary source HGNC:HGNC:11632 See related Ensembl:ENSG00000118526 MIM:603306; AllianceGenome:HGNC:11632 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 POD1; bHLHa23 Summary TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 32.6), spleen (RPKM 25.0) and 15 other tissues See more Orthologs mouse all
TCF23, Official Symbol TCF23provided by HGNC Official Full Name transcription factor 23provided by HGNC Primary source HGNC:HGNC:18602 See related Ensembl:ENSG00000163792 MIM:609635; AllianceGenome:HGNC:18602 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 OUT; TCF-23; bHLHa24 Summary The gene encodes a member of the basic helix-loop-helix transcription factor family. Studies of the orthologous gene in mouse have shown the encoded protein does not bind DNA but may negatively regulate other basic helix-loop-helix factors via the formation of a functionally inactive heterodimeric complex. [provided by RefSeq, May 2010] Expression Biased expression in endometrium (RPKM 12.5), ovary (RPKM 9.5) and 2 other tissues See more Orthologs mouse all
TCF24, Official Symbol TCF24provided by HGNC Official Full Name transcription factor 24provided by HGNC Primary source HGNC:HGNC:32275 See related Ensembl:ENSG00000261787 AllianceGenome:HGNC:32275 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 TCF-24; bHLHa25 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in developmental process and regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
TCF25, Official Symbol TCF25provided by HGNC Official Full Name transcription factor 25provided by HGNC Primary source HGNC:HGNC:29181 See related Ensembl:ENSG00000141002 MIM:612326; AllianceGenome:HGNC:29181 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 Hulp1; NULP1; FKSG26; PRO2620; hKIAA1049 Summary TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008] Expression Ubiquitous expression in thyroid (RPKM 33.1), testis (RPKM 28.8) and 25 other tissues See more Orthologs mouse all
TCF3, Official Symbol TCF3provided by HGNC Official Full Name transcription factor 3provided by HGNC Primary source HGNC:HGNC:11633 See related Ensembl:ENSG00000071564 MIM:147141; AllianceGenome:HGNC:11633 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 E2A; E47; p75; AGM8; ITF1; VDIR; AGM8A; AGM8B; TCF-3; bHLHb21 Summary This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Sep 2011] Expression Broad expression in testis (RPKM 16.2), lymph node (RPKM 12.8) and 25 other tissues See more Orthologs mouse all
TCF4, Official Symbol TCF4provided by HGNC Official Full Name transcription factor 4provided by HGNC Primary source HGNC:HGNC:11634 See related Ensembl:ENSG00000196628 MIM:602272; AllianceGenome:HGNC:11634 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 E2-2; FCD2; ITF2; PTHS; SEF2; CDG2T; FECD3; ITF-2; SEF-2; TCF-4; SEF2-1; SEF2-1A; SEF2-1B; SEF2-1D; bHLHb19 Summary This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016] Annotation information Note: TCF4 (Gene ID: 6925) and TCF7L2 (Gene ID: 6934) loci share the TCF4 symbol/alias in common. TCF4 is a widely used alternative name for T-cell-specific transcription factor 4 (TCF7L2) conflicting with the official symbol for transcription factor 4 (TCF4). [08 Feb 2019] Expression Ubiquitous expression in brain (RPKM 17.0), fat (RPKM 14.9) and 24 other tissues See more Orthologs mouse all
TCF4-AS1, Official Symbol TCF4-AS1provided by HGNC Official Full Name TCF4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51642 See related Ensembl:ENSG00000267028 AllianceGenome:HGNC:51642 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 MIR4529HG Expression Low expression observed in reference dataset See more
TCF7, Official Symbol TCF7provided by HGNC Official Full Name transcription factor 7provided by HGNC Primary source HGNC:HGNC:11639 See related Ensembl:ENSG00000081059 MIM:189908; AllianceGenome:HGNC:11639 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 TCF-1 Summary This gene encodes a member of the T-cell factor/lymphoid enhancer-binding factor family of high mobility group (HMG) box transcriptional activators. This gene is expressed predominantly in T-cells and plays a critical role in natural killer cell and innate lymphoid cell development. The encoded protein forms a complex with beta-catenin and activates transcription through a Wnt/beta-catenin signaling pathway. Mice with a knockout of this gene are viable and fertile, but display a block in T-lymphocyte differentiation. Alternative splicing results in multiple transcript variants. Naturally-occurring isoforms lacking the N-terminal beta-catenin interaction domain may act as dominant negative regulators of Wnt signaling. [provided by RefSeq, Oct 2016] Expression Broad expression in lymph node (RPKM 9.2), appendix (RPKM 6.3) and 14 other tissues See more Orthologs mouse all
TCF7L1, Official Symbol TCF7L1provided by HGNC Official Full Name transcription factor 7 like 1provided by HGNC Primary source HGNC:HGNC:11640 See related Ensembl:ENSG00000152284 MIM:604652; AllianceGenome:HGNC:11640 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 TCF3; TCF-3 Summary This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation of cell cycle genes and cellular senescence. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in fat (RPKM 14.2), ovary (RPKM 9.6) and 23 other tissues See more Orthologs mouse all
TCF7L1-IT1, Official Symbol TCF7L1-IT1provided by HGNC Official Full Name TCF7L1 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41388 See related Ensembl:ENSG00000231134 AllianceGenome:HGNC:41388 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TCF7L2, Official Symbol TCF7L2provided by HGNC Official Full Name transcription factor 7 like 2provided by HGNC Primary source HGNC:HGNC:11641 See related Ensembl:ENSG00000148737 MIM:602228; AllianceGenome:HGNC:11641 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 TCF4; TCF-4 Summary This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010] Annotation information Note: TCF4 (Gene ID: 6925) and TCF7L2 (Gene ID: 6934) loci share the TCF4 symbol/alias in common. TCF4 is a widely used alternative name for T-cell-specific transcription factor 4 (TCF7L2) conflicting with the official symbol for transcription factor 4 (TCF4). [08 Feb 2019] Expression Ubiquitous expression in fat (RPKM 12.8), colon (RPKM 11.3) and 25 other tissues See more Orthologs mouse all
TCFL5, Official Symbol TCFL5provided by HGNC Official Full Name transcription factor like 5provided by HGNC Primary source HGNC:HGNC:11646 See related Ensembl:ENSG00000101190 MIM:604745; AllianceGenome:HGNC:11646 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 CHA; Figlb; SOSF1; E2BP-1; bHLHe82 Summary Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including negative regulation of transcription by RNA polymerase II; regulation of cell population proliferation; and spermatogenesis. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 22.8), thyroid (RPKM 7.1) and 19 other tissues See more Orthologs mouse all
TCHH, Official Symbol TCHHprovided by HGNC Official Full Name trichohyalinprovided by HGNC Primary source HGNC:HGNC:11791 See related Ensembl:ENSG00000159450 MIM:190370; AllianceGenome:HGNC:11791 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 THH; THL; TRHY; UHS3 Summary The protein encoded by this gene forms crosslinked complexes with itself and keratin intermediate filaments to provide mechanical strength to the hair follicle inner root sheath. The encoded protein also is important for structural integrity of the filiform papillae of the tongue. Defects in this gene are a cause of uncombable hair syndrome. [provided by RefSeq, Feb 2017] Expression Biased expression in placenta (RPKM 1.2), spleen (RPKM 1.1) and 13 other tissues See more Orthologs mouse all
TCHHL1, Official Symbol TCHHL1provided by HGNC Official Full Name trichohyalin like 1provided by HGNC Primary source HGNC:HGNC:31796 See related Ensembl:ENSG00000182898 AllianceGenome:HGNC:31796 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 THHL1; S100A17 Summary This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the development of complex skin disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially restricted within the distal inner root sheath of the hair follicle. It thus may have an important role in hair morphogenesis. [provided by RefSeq, Aug 2013] Expression Low expression observed in reference dataset See more Orthologs mouse all
TCHP, Official Symbol TCHPprovided by HGNC Official Full Name trichoplein keratin filament bindingprovided by HGNC Primary source HGNC:HGNC:28135 See related Ensembl:ENSG00000139437 MIM:612654; AllianceGenome:HGNC:28135 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 TpMs Summary Involved in apoptotic process; negative regulation of cell growth; and negative regulation of cilium assembly. Located in several cellular components, including apical cortex; cytoskeleton; and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 11.4), testis (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
TCIM, Official Symbol TCIMprovided by HGNC Official Full Name transcriptional and immune response regulatorprovided by HGNC Primary source HGNC:HGNC:1357 See related Ensembl:ENSG00000176907 MIM:607702; AllianceGenome:HGNC:1357 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 TC1; TC-1; C8orf4 Summary This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2 signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including thyroid cancer, breast cancer and hematological malignancies. [provided by RefSeq, Nov 2011] Orthologs mouse all
TCIRG1, Official Symbol TCIRG1provided by HGNC Official Full Name T cell immune regulator 1, ATPase H+ transporting V0 subunit a3provided by HGNC Primary source HGNC:HGNC:11647 See related Ensembl:ENSG00000110719 MIM:604592; AllianceGenome:HGNC:11647 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 a3; Stv1; Vph1; Atp6i; OC116; OPTB1; TIRC7; ATP6N1C; ATP6V0A3; OC-116kDa Summary This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017] Expression Ubiquitous expression in bone marrow (RPKM 27.5), spleen (RPKM 26.3) and 25 other tissues See more Orthologs mouse all
TCL1A, Official Symbol TCL1Aprovided by HGNC Official Full Name TCL1 family AKT coactivator Aprovided by HGNC Primary source HGNC:HGNC:11648 See related Ensembl:ENSG00000100721 MIM:186960; AllianceGenome:HGNC:11648 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 TCL1 Summary Overexpression of the TCL1 gene in humans has been implicated in the development of mature T cell leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-cell antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). In normal T cells TCL1 is expressed in CD4-/CD8- cells, but not in cells at later stages of differentiation. TCL1 functions as a coactivator of the cell survival kinase AKT (MIM 164730) (Laine et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010] Expression Biased expression in lymph node (RPKM 72.1), spleen (RPKM 19.8) and 2 other tissues See more Orthologs mouse all
TCL1B, Official Symbol TCL1Bprovided by HGNC Official Full Name TCL1 family AKT coactivator Bprovided by HGNC Primary source HGNC:HGNC:11649 See related Ensembl:ENSG00000213231 MIM:603769; AllianceGenome:HGNC:11649 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 TML1; SYN-1 Summary Enables protein kinase binding activity and protein serine/threonine kinase activator activity. Involved in positive regulation of peptidyl-serine phosphorylation and positive regulation of protein serine/threonine kinase activity. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.5), lymph node (RPKM 1.2) and 6 other tissues See more Orthologs all
TCL6, Official Symbol TCL6provided by HGNC Official Full Name T cell leukemia/lymphoma 6provided by HGNC Primary source HGNC:HGNC:13463 See related MIM:604412; AllianceGenome:HGNC:13463 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 TNG1; TNG2 Expression Biased expression in kidney (RPKM 2.4), placenta (RPKM 1.4) and 5 other tissues See more
TCN1, Official Symbol TCN1provided by HGNC Official Full Name transcobalamin 1provided by HGNC Primary source HGNC:HGNC:11652 See related Ensembl:ENSG00000134827 MIM:189905; AllianceGenome:HGNC:11652 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 HC; TC1; TCI; TC-1 Summary This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq, Jul 2008] Expression Biased expression in salivary gland (RPKM 166.7), gall bladder (RPKM 102.9) and 3 other tissues See more Orthologs all
TCN2, Official Symbol TCN2provided by HGNC Official Full Name transcobalamin 2provided by HGNC Primary source HGNC:HGNC:11653 See related Ensembl:ENSG00000185339 MIM:613441; AllianceGenome:HGNC:11653 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 II; TC; TC2; TC-2; TCII; TC II; D22S676; D22S750 Summary This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] Expression Broad expression in kidney (RPKM 50.7), gall bladder (RPKM 33.1) and 22 other tissues See more Orthologs mouse all
TCOF1, Official Symbol TCOF1provided by HGNC Official Full Name treacle ribosome biogenesis factor 1provided by HGNC Primary source HGNC:HGNC:11654 See related Ensembl:ENSG00000070814 MIM:606847; AllianceGenome:HGNC:11654 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 TCS; MFD1; TCS1; treacle Summary This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] Expression Ubiquitous expression in lymph node (RPKM 7.8), appendix (RPKM 6.8) and 25 other tissues See more Orthologs mouse all