ENSG00000084093
Homo sapiens | |
Features
| Gene ID: | ENSG00000084093 | | | | | Biological name : | REST | | | | | Synonyms : | Q13127 / RE1 silencing transcription factor / REST | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 4 | | Strand: | 1 | | Band: | q12 | | Gene start: | 56907876 | | Gene end: | 56966678 | | | | | Corresponding Affymetrix probe sets: | 204535_s_at (Human Genome U133 Plus 2.0 Array) 212920_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000484836
Ensembl peptide - ENSP00000492813
Ensembl peptide - ENSP00000492006
Ensembl peptide - ENSP00000490969
Ensembl peptide - ENSP00000311816
Ensembl peptide - ENSP00000479151
Ensembl peptide - ENSP00000481650
Ensembl peptide - ENSP00000484058
Ensembl peptide - ENSP00000484206
NCBI entrez gene - 5978
See in Manteia.
OMIM - 600571
RefSeq - XM_017008527
RefSeq - NM_001193508
RefSeq - NM_005612
RefSeq - XM_011534401
RefSeq Peptide - NP_005603
RefSeq Peptide - NP_001180437
swissprot - Q13127
swissprot - A0A1W2PQA1
swissprot - A0A087X1C2
swissprot - L0B1S6
swissprot - L0B3M6
swissprot - L0B1V4
swissprot - L0B3Z2
Ensembl - ENSG00000084093
| | | | | Related genetic diseases (OMIM): | 616806 - {Wilms tumor 6, susceptibility to}, 616806 | | | 617626 - Fibromatosis, gingival, 5, 617626 |
This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000169 | Gingival fibromatosis | "Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported." [HPO:curators] |
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| | HP:0000212 | Gingival hyperplasia | |
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| | HP:0000526 | Aniridia | "Congenital absence of the iris." [HPO:curators] |
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| | HP:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
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| | HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| | HP:0001824 | Weight loss | |
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| | HP:0001945 | Fever | |
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| | HP:0002027 | Abdominal pain | |
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| | HP:0002667 | Nephroblastoma (Wilms tumor) | "A kind of renal tumor primarily affecting children. It is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever." [HPO:curators] |
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| | HP:0002716 | Lymphadenopathy | |
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| | HP:0002896 | Liver cancer | |
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| | HP:0100526 | Neoplasia of the lungs | |
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Interacting proteins (from Reactome)
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