psui3905/ncbi_genes_summary huggingface dataset:
RC3H1, Official Symbol RC3H1provided by HGNC Official Full Name ring finger and CCCH-type domains 1provided by HGNC Primary source HGNC:HGNC:29434 See related Ensembl:ENSG00000135870 MIM:609424; AllianceGenome:HGNC:29434 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 FHL6; IMDSHY; RNF198; ROQUIN Summary This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in bone marrow (RPKM 7.1), skin (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
RC3H1-IT1, Official Symbol RC3H1-IT1provided by HGNC Official Full Name RC3H1 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41496 See related AllianceGenome:HGNC:41496 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
RC3H2, Official Symbol RC3H2provided by HGNC Official Full Name ring finger and CCCH-type domains 2provided by HGNC Primary source HGNC:HGNC:21461 See related Ensembl:ENSG00000056586 MIM:615231; AllianceGenome:HGNC:21461 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 MNAB; RNF164 Summary Enables nucleic acid binding activity and ubiquitin protein ligase activity. Involved in protein polyubiquitination. Located in cell surface; intracellular membrane-bounded organelle; and membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 7.8), testis (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
RCAN1, Official Symbol RCAN1provided by HGNC Official Full Name regulator of calcineurin 1provided by HGNC Primary source HGNC:HGNC:3040 See related Ensembl:ENSG00000159200 MIM:602917; AllianceGenome:HGNC:3040 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 CSP1; DSC1; RCN1; DSCR1; MCIP1; ADAPT78 Summary The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] Expression Broad expression in liver (RPKM 56.9), placenta (RPKM 30.5) and 22 other tissues See more Orthologs mouse all
RCAN2, Official Symbol RCAN2provided by HGNC Official Full Name regulator of calcineurin 2provided by HGNC Primary source HGNC:HGNC:3041 See related Ensembl:ENSG00000172348 MIM:604876; AllianceGenome:HGNC:3041 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 CSP2; RCN2; MCIP2; ZAKI4; ZAKI-4; DSCR1L1 Summary This gene encodes a member of the regulator of calcineurin (RCAN) protein family. These proteins play a role in many physiological processes by binding to the catalytic domain of calcineurin A, inhibiting calcineurin-mediated nuclear translocation of the transcription factor NFATC1. Expression of this gene in skin fibroblasts is upregulated by thyroid hormone, and the encoded protein may also play a role in endothelial cell function and angiogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] Expression Broad expression in heart (RPKM 64.4), brain (RPKM 36.0) and 18 other tissues See more Orthologs mouse all
RCAN3, Official Symbol RCAN3provided by HGNC Official Full Name RCAN family member 3provided by HGNC Primary source HGNC:HGNC:3042 See related Ensembl:ENSG00000117602 MIM:605860; AllianceGenome:HGNC:3042 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 RCN3; MCIP3; hRCN3; DSCR1L2 Summary Enables phosphatase binding activity and troponin I binding activity. Predicted to be involved in calcium-mediated signaling. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in prostate (RPKM 18.2), lymph node (RPKM 9.0) and 22 other tissues See more Orthologs mouse all
RCAN3AS, Official Symbol RCAN3ASprovided by HGNC Official Full Name RCAN3 antisense RNAprovided by HGNC Primary source HGNC:HGNC:39009 See related Ensembl:ENSG00000286061 AllianceGenome:HGNC:39009 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 Biased expression in lymph node (RPKM 1.1), prostate (RPKM 0.9) and 13 other tissues See more
RCBTB1, Official Symbol RCBTB1provided by HGNC Official Full Name RCC1 and BTB domain containing protein 1provided by HGNC Primary source HGNC:HGNC:18243 See related Ensembl:ENSG00000136144 MIM:607867; AllianceGenome:HGNC:18243 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 GLP; CLLD7; CLLL7; RDEOA Summary This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 19.0), brain (RPKM 9.6) and 25 other tissues See more Orthologs mouse all
RCBTB2, Official Symbol RCBTB2provided by HGNC Official Full Name RCC1 and BTB domain containing protein 2provided by HGNC Primary source HGNC:HGNC:1914 See related Ensembl:ENSG00000136161 MIM:603524; AllianceGenome:HGNC:1914 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 RLG; CHC1L Summary This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] Expression Ubiquitous expression in thyroid (RPKM 11.8), ovary (RPKM 6.4) and 24 other tissues See more Orthologs mouse all
RCC1, Official Symbol RCC1provided by HGNC Official Full Name regulator of chromosome condensation 1provided by HGNC Primary source HGNC:HGNC:1913 See related Ensembl:ENSG00000180198 MIM:179710; AllianceGenome:HGNC:1913 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 CHC1; RCC1-I Summary Enables several functions, including guanyl-nucleotide exchange factor activity; nucleosomal DNA binding activity; and protein heterodimerization activity. Involved in several processes, including G1/S transition of mitotic cell cycle; regulation of mitotic nuclear division; and spindle organization. Located in chromatin; cytoplasm; and nucleus. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 13.1), lymph node (RPKM 11.7) and 25 other tissues See more Orthologs mouse all
RCC1L, Official Symbol RCC1Lprovided by HGNC Official Full Name RCC1 likeprovided by HGNC Primary source HGNC:HGNC:14948 See related Ensembl:ENSG00000274523 AllianceGenome:HGNC:14948 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 WBSCR16 Summary This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in kidney (RPKM 12.5), fat (RPKM 10.7) and 25 other tissues See more Orthologs mouse all
RCC2, Official Symbol RCC2provided by HGNC Official Full Name regulator of chromosome condensation 2provided by HGNC Primary source HGNC:HGNC:30297 See related Ensembl:ENSG00000179051 MIM:609587; AllianceGenome:HGNC:30297 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 TD-60 Summary The protein encoded by this gene is a guanine exchange factor that is active on RalA, a small GTPase. The encoded protein and RalA are both essential for proper kinetochore-microtubule function in early mitosis. This protein has been shown to be a biomarker for colorectal cancer. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in lymph node (RPKM 29.5), skin (RPKM 28.3) and 25 other tissues See more Orthologs mouse all
RCC2-AS1, Official Symbol RCC2-AS1provided by HGNC Official Full Name RCC2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41262 See related Ensembl:ENSG00000227751 AllianceGenome:HGNC:41262 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 LCPAT1
RCC2P1, Official Symbol RCC2P1provided by HGNC Official Full Name regulator of chromosome condensation 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:37710 See related Ensembl:ENSG00000234385 AllianceGenome:HGNC:37710 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RCC2P2, Official Symbol RCC2P2provided by HGNC Official Full Name regulator of chromosome condensation 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:38419 See related Ensembl:ENSG00000237997 AllianceGenome:HGNC:38419 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RCC2P4, Official Symbol RCC2P4provided by HGNC Official Full Name regulator of chromosome condensation 2 pseudogene 4provided by HGNC Primary source HGNC:HGNC:42380 See related Ensembl:ENSG00000249558 AllianceGenome:HGNC:42380 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RCC2P5, Official Symbol RCC2P5provided by HGNC Official Full Name regulator of chromosome condensation 2 pseudogene 5provided by HGNC Primary source HGNC:HGNC:42381 See related Ensembl:ENSG00000241018 AllianceGenome:HGNC:42381 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RCC2P6, Official Symbol RCC2P6provided by HGNC Official Full Name regulator of chromosome condensation 2 pseudogene 6provided by HGNC Primary source HGNC:HGNC:42382 See related AllianceGenome:HGNC:42382 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RCC2P8, Official Symbol RCC2P8provided by HGNC Official Full Name regulator of chromosome condensation 2 pseudogene 8provided by HGNC Primary source HGNC:HGNC:42384 See related Ensembl:ENSG00000250185 AllianceGenome:HGNC:42384 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RCCD1, Official Symbol RCCD1provided by HGNC Official Full Name RCC1 domain containing 1provided by HGNC Primary source HGNC:HGNC:30457 See related Ensembl:ENSG00000166965 MIM:617997; AllianceGenome:HGNC:30457 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 chromatin organization. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 2.9), colon (RPKM 2.1) and 25 other tissues See more Orthologs mouse all
RCCD1-AS1, Official Symbol RCCD1-AS1provided by HGNC Official Full Name RCCD1 and UNC45A antisense RNA 1provided by HGNC Primary source HGNC:HGNC:54811 See related AllianceGenome:HGNC:54811 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RCE1, Official Symbol RCE1provided by HGNC Official Full Name Ras converting CAAX endopeptidase 1provided by HGNC Primary source HGNC:HGNC:13721 See related Ensembl:ENSG00000173653 MIM:605385; AllianceGenome:HGNC:13721 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 FACE2; RCE1A; RCE1B Summary This gene encodes an integral membrane protein which is classified as a member of the metalloproteinase family. This enzyme is thought to function in the maintenance and processing of CAAX-type prenylated proteins. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 9.2), placenta (RPKM 8.3) and 25 other tissues See more Orthologs mouse all
RCHY1, Official Symbol RCHY1provided by HGNC Official Full Name ring finger and CHY zinc finger domain containing 1provided by HGNC Primary source HGNC:HGNC:17479 See related Ensembl:ENSG00000163743 MIM:607680; AllianceGenome:HGNC:17479 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 ZCHY; ARNIP; CHIMP; PIRH2; RNF199; ZNF363; PRO1996 Summary The protein encoded by this gene has ubiquitin ligase activity. It mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including tumor protein 53, histone deacetylase 1, and cyclin-dependent kinase inhibitor 1B, thus regulating their levels and cell cycle progression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2013] Expression Ubiquitous expression in thyroid (RPKM 7.9), bone marrow (RPKM 6.3) and 25 other tissues See more Orthologs mouse all
RCL1, Official Symbol RCL1provided by HGNC Official Full Name RNA terminal phosphate cyclase like 1provided by HGNC Primary source HGNC:HGNC:17687 See related Ensembl:ENSG00000120158 MIM:611405; AllianceGenome:HGNC:17687 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 RNAC; RPCL1 Summary Predicted to enable endoribonuclease activity. Predicted to be involved in endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to act upstream of or within endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) and endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to be located in nucleoplasm. Predicted to be active in nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 21.6), fat (RPKM 15.5) and 25 other tissues See more Orthologs mouse all
RCN1, Official Symbol RCN1provided by HGNC Official Full Name reticulocalbin 1provided by HGNC Primary source HGNC:HGNC:9934 See related Ensembl:ENSG00000049449 MIM:602735; AllianceGenome:HGNC:9934 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 RCN; RCAL; PIG20; HEL-S-84 Summary Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 2009] Expression Ubiquitous expression in placenta (RPKM 69.9), urinary bladder (RPKM 61.7) and 24 other tissues See more Orthologs mouse all
RCN1P1, Official Symbol RCN1P1provided by HGNC Official Full Name reticulocalbin 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39205 See related AllianceGenome:HGNC:39205 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RCN1P2, Official Symbol RCN1P2provided by HGNC Official Full Name reticulocalbin 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39204 See related AllianceGenome:HGNC:39204 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RCN2, Official Symbol RCN2provided by HGNC Official Full Name reticulocalbin 2provided by HGNC Primary source HGNC:HGNC:9935 See related Ensembl:ENSG00000117906 MIM:602584; AllianceGenome:HGNC:9935 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 E6BP; ERC55; ERC-55; TCBP49 Summary The protein encoded by this gene is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in testis (RPKM 51.1), brain (RPKM 32.7) and 24 other tissues See more Orthologs mouse all
RCN3, Official Symbol RCN3provided by HGNC Official Full Name reticulocalbin 3provided by HGNC Primary source HGNC:HGNC:21145 See related Ensembl:ENSG00000142552 MIM:619032; AllianceGenome:HGNC:21145 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 RLP49 Summary Enables calcium ion binding activity. Involved in several processes, including collagen biosynthetic process; positive regulation of peptidase activity; and regulation of protein kinase B signaling. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 12.8), placenta (RPKM 11.9) and 24 other tissues See more Orthologs mouse all
RCOR1, Official Symbol RCOR1provided by HGNC Official Full Name REST corepressor 1provided by HGNC Primary source HGNC:HGNC:17441 See related Ensembl:ENSG00000089902 MIM:607675; AllianceGenome:HGNC:17441 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 RCOR; COREST Summary This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor). [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in bone marrow (RPKM 19.5), esophagus (RPKM 14.2) and 25 other tissues See more Orthologs mouse all
RCOR2, Official Symbol RCOR2provided by HGNC Official Full Name REST corepressor 2provided by HGNC Primary source HGNC:HGNC:27455 See related Ensembl:ENSG00000167771 MIM:616019; AllianceGenome:HGNC:27455 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 transcription corepressor activity. Predicted to be involved in histone deacetylation; negative regulation of transcription, DNA-templated; and regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of histone deacetylase complex and transcription regulator complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 4.9), testis (RPKM 1.7) and 14 other tissues See more Orthologs mouse all
RCOR3, Official Symbol RCOR3provided by HGNC Official Full Name REST corepressor 3provided by HGNC Primary source HGNC:HGNC:25594 See related Ensembl:ENSG00000117625 MIM:620464; AllianceGenome:HGNC:25594 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 enzyme binding activity and transcription corepressor activity. Predicted to be involved in histone deacetylation; negative regulation of transcription, DNA-templated; and regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 13.7), thyroid (RPKM 11.6) and 25 other tissues See more Orthologs mouse all
RCSD1, Official Symbol RCSD1provided by HGNC Official Full Name RCSD domain containing 1provided by HGNC Primary source HGNC:HGNC:28310 See related Ensembl:ENSG00000198771 MIM:610579; AllianceGenome:HGNC:28310 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 MK2S4; CAPZIP Summary Enables actin filament binding activity. Involved in cellular hyperosmotic response. Predicted to be located in actin filament. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 25.8), spleen (RPKM 16.7) and 20 other tissues See more Orthologs mouse all
RCVRN, Official Symbol RCVRNprovided by HGNC Official Full Name recoverinprovided by HGNC Primary source HGNC:HGNC:9937 See related Ensembl:ENSG00000109047 MIM:179618; AllianceGenome:HGNC:9937 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 RCV1 Summary This gene encodes a member of the recoverin family of neuronal calcium sensors. The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduction cascade in the retina by blocking the phosphorylation of photo-activated rhodopsin. Recoverin may be the antigen responsible for cancer-associated retinopathy. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
RD3, Official Symbol RD3provided by HGNC Official Full Name RD3 regulator of GUCY2Dprovided by HGNC Primary source HGNC:HGNC:19689 See related Ensembl:ENSG00000198570 MIM:180040; AllianceGenome:HGNC:19689 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 LCA12; C1orf36 Summary This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
RD3L, Official Symbol RD3Lprovided by HGNC Official Full Name RD3 likeprovided by HGNC Primary source HGNC:HGNC:40912 See related Ensembl:ENSG00000227729 AllianceGenome:HGNC:40912 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 TDRD9AS1; TDRD9-AS1 Expression Restricted expression toward heart (RPKM 10.1) See more Orthologs mouse all
RDH10, Official Symbol RDH10provided by HGNC Official Full Name retinol dehydrogenase 10provided by HGNC Primary source HGNC:HGNC:19975 See related Ensembl:ENSG00000121039 MIM:607599; AllianceGenome:HGNC:19975 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 SDR16C4 Summary This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in kidney (RPKM 18.4), gall bladder (RPKM 13.9) and 24 other tissues See more Orthologs mouse all
RDH10-AS1, Official Symbol RDH10-AS1provided by HGNC Official Full Name RDH10 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51658 See related Ensembl:ENSG00000250295 AllianceGenome:HGNC:51658 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
RDH11, Official Symbol RDH11provided by HGNC Official Full Name retinol dehydrogenase 11provided by HGNC Primary source HGNC:HGNC:17964 See related Ensembl:ENSG00000072042 MIM:607849; AllianceGenome:HGNC:17964 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 MDT1; CGI82; PSDR1; RALR1; SCALD; ARSDR1; HCBP12; RDJCSS; SDR7C1 Summary Enables NADP-retinol dehydrogenase activity. Involved in cellular detoxification of aldehyde and retinoid metabolic process. Acts upstream of or within retinal metabolic process. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in prostate (RPKM 353.6), kidney (RPKM 48.4) and 9 other tissues See more Orthologs mouse all
RDH12, Official Symbol RDH12provided by HGNC Official Full Name retinol dehydrogenase 12provided by HGNC Primary source HGNC:HGNC:19977 See related Ensembl:ENSG00000139988 MIM:608830; AllianceGenome:HGNC:19977 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 RP53; LCA13; SDR7C2 Summary The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015] Expression Biased expression in skin (RPKM 21.6), gall bladder (RPKM 10.8) and 4 other tissues See more Orthologs mouse all
RDH13, Official Symbol RDH13provided by HGNC Official Full Name retinol dehydrogenase 13provided by HGNC Primary source HGNC:HGNC:19978 See related Ensembl:ENSG00000160439 AllianceGenome:HGNC:19978 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 SDR7C3 Summary This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in skin (RPKM 5.7), stomach (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
RDH14, Official Symbol RDH14provided by HGNC Official Full Name retinol dehydrogenase 14provided by HGNC Primary source HGNC:HGNC:19979 See related Ensembl:ENSG00000240857 MIM:616796; AllianceGenome:HGNC:19979 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 PAN2; SDR7C4 Summary Enables NADP-retinol dehydrogenase activity. Involved in osteoblast differentiation. Located in cytosol; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 13.2), prostate (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
RDH16, Official Symbol RDH16provided by HGNC Official Full Name retinol dehydrogenase 16provided by HGNC Primary source HGNC:HGNC:29674 See related Ensembl:ENSG00000139547 MIM:620043; AllianceGenome:HGNC:29674 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 RODH4; RODH-4; SDR9C8; hRDH-E Summary Enables NAD-retinol dehydrogenase activity; androstan-3-alpha,17-beta-diol dehydrogenase activity; and androsterone dehydrogenase activity. Involved in steroid metabolic process. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward liver (RPKM 111.9) See more Orthologs mouse all
RDH5, Official Symbol RDH5provided by HGNC Official Full Name retinol dehydrogenase 5provided by HGNC Primary source HGNC:HGNC:9940 See related Ensembl:ENSG00000135437 MIM:601617; AllianceGenome:HGNC:9940 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 RDH1; 9cRDH; SDR9C5; HSD17B9 Summary This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010] Expression Biased expression in fat (RPKM 73.0), liver (RPKM 14.5) and 5 other tissues See more Orthologs mouse all
RDH8, Official Symbol RDH8provided by HGNC Official Full Name retinol dehydrogenase 8provided by HGNC Primary source HGNC:HGNC:14423 See related Ensembl:ENSG00000080511 MIM:608575; AllianceGenome:HGNC:14423 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 PRRDH; SDR28C2 Summary This gene encodes a member of the short-chain dehydrogenase/reductase family. The encoded protein catalyzes the reduction of all-trans-retinal to all-trans-retinol, the first reaction step of the rhodopsin regeneration pathway. This enzymatic reaction is the rate-limiting step in the visual cycle. [provided by RefSeq, Feb 2014] Expression Biased expression in kidney (RPKM 1.0), testis (RPKM 0.7) and 1 other tissue See more Orthologs mouse all
RDM1, Official Symbol RDM1provided by HGNC Official Full Name RAD52 motif containing 1provided by HGNC Primary source HGNC:HGNC:19950 See related Ensembl:ENSG00000278023 MIM:612896; AllianceGenome:HGNC:19950 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 RAD52B Summary This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 2.2), lymph node (RPKM 0.3) and 5 other tissues See more Orthologs mouse all
RDM1P1, Official Symbol RDM1P1provided by HGNC Official Full Name RDM1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:53917 See related Ensembl:ENSG00000266504 AllianceGenome:HGNC:53917 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RDM1P3, Official Symbol RDM1P3provided by HGNC Official Full Name RDM1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:53919 See related AllianceGenome:HGNC:53919 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RDM1P4, Official Symbol RDM1P4provided by HGNC Official Full Name RDM1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:53920 See related Ensembl:ENSG00000271974 AllianceGenome:HGNC:53920 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RDM1P5, Official Symbol RDM1P5provided by HGNC Official Full Name RDM1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:53921 See related Ensembl:ENSG00000263818 AllianceGenome:HGNC:53921 Gene type pseudo 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
RDX, Official Symbol RDXprovided by HGNC Official Full Name radixinprovided by HGNC Primary source HGNC:HGNC:9944 See related Ensembl:ENSG00000137710 MIM:179410; AllianceGenome:HGNC:9944 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 DFNB24 Summary Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] Expression Broad expression in adrenal (RPKM 86.1), lung (RPKM 29.5) and 23 other tissues See more Orthologs mouse all
RDXP1, Official Symbol RDXP1provided by HGNC Official Full Name RDX pseudogene 1provided by HGNC Primary source HGNC:HGNC:9945 See related Ensembl:ENSG00000255387 AllianceGenome:HGNC:9945 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
RDXP3, Official Symbol RDXP3provided by HGNC Official Full Name RDX pseudogene 3provided by HGNC Primary source HGNC:HGNC:54912 See related Ensembl:ENSG00000238247 AllianceGenome:HGNC:54912 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
REC114, Official Symbol REC114provided by HGNC Official Full Name REC114 meiotic recombination proteinprovided by HGNC Primary source HGNC:HGNC:25065 See related Ensembl:ENSG00000183324 MIM:618421; AllianceGenome:HGNC:25065 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 CT147; OOMD10; OZEMA10; C15orf60 Summary The protein encoded by this gene is orthologous to the mouse meiotic recombination protein REC114, which is involved in DNA double-strand break formation during meiosis. The encoded protein is conserved in most eukaryotes and was first discovered and characterized in yeast. [provided by RefSeq, Feb 2017] Expression Restricted expression toward testis (RPKM 17.1) See more Orthologs mouse all
REC8, Official Symbol REC8provided by HGNC Official Full Name REC8 meiotic recombination proteinprovided by HGNC Primary source HGNC:HGNC:16879 See related Ensembl:ENSG00000100918 MIM:608193; AllianceGenome:HGNC:16879 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 Rec8p; REC8L1; HR21spB Summary This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in gall bladder (RPKM 12.4), testis (RPKM 11.2) and 23 other tissues See more Orthologs mouse all
RECK, Official Symbol RECKprovided by HGNC Official Full Name reversion inducing cysteine rich protein with kazal motifsprovided by HGNC Primary source HGNC:HGNC:11345 See related Ensembl:ENSG00000122707 MIM:605227; AllianceGenome:HGNC:11345 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 ST15 Summary The protein encoded by this gene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strongly in many tumors and cells transformed by various kinds of oncogenes. In normal cells, this membrane-anchored glycoprotein may serve as a negative regulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] Expression Ubiquitous expression in gall bladder (RPKM 6.7), endometrium (RPKM 6.4) and 24 other tissues See more Orthologs mouse all
RECQL, Official Symbol RECQLprovided by HGNC Official Full Name RecQ like helicaseprovided by HGNC Primary source HGNC:HGNC:9948 See related Ensembl:ENSG00000004700 MIM:600537; AllianceGenome:HGNC:9948 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 RECON; RecQ1; RECQL1 Summary The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in lymph node (RPKM 20.4), appendix (RPKM 19.2) and 25 other tissues See more Orthologs mouse all
RECQL4, Official Symbol RECQL4provided by HGNC Official Full Name RecQ like helicase 4provided by HGNC Primary source HGNC:HGNC:9949 See related Ensembl:ENSG00000160957 MIM:603780; AllianceGenome:HGNC:9949 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 RECQ4 Summary The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010] Expression Broad expression in bone marrow (RPKM 7.0), testis (RPKM 7.0) and 22 other tissues See more Orthologs mouse all
RECQL5, Official Symbol RECQL5provided by HGNC Official Full Name RecQ like helicase 5provided by HGNC Primary source HGNC:HGNC:9950 See related Ensembl:ENSG00000108469 MIM:603781; AllianceGenome:HGNC:9950 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 RECQ5 Summary The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] Expression Ubiquitous expression in testis (RPKM 5.3), stomach (RPKM 5.3) and 25 other tissues See more Orthologs mouse all
REELD1, Official Symbol REELD1provided by HGNC Official Full Name reeler domain containing 1provided by HGNC Primary source HGNC:HGNC:53638 See related Ensembl:ENSG00000250673 AllianceGenome:HGNC:53638 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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all