ENSG00000081237
Homo sapiens | |
Features
| Gene ID: | ENSG00000081237 | | | | | Biological name : | PTPRC | | | | | Synonyms : | protein tyrosine phosphatase, receptor type C / PTPRC | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | 1 | | Band: | q31.3 | | Gene start: | 198638457 | | Gene end: | 198757476 | | | | | Corresponding Affymetrix probe sets: | 1552480_s_at (Human Genome U133 Plus 2.0 Array) 1569830_at (Human Genome U133 Plus 2.0 Array) 207238_s_at (Human Genome U133 Plus 2.0 Array) 212587_s_at (Human Genome U133 Plus 2.0 Array) 212588_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000411355
Ensembl peptide - ENSP00000433536
Ensembl peptide - ENSP00000494327
Ensembl peptide - ENSP00000494132
Ensembl peptide - ENSP00000469141
Ensembl peptide - ENSP00000306782
Ensembl peptide - ENSP00000356334
Ensembl peptide - ENSP00000356337
Ensembl peptide - ENSP00000356349
Ensembl peptide - ENSP00000393360
Ensembl peptide - ENSP00000405494
NCBI entrez gene - 5788
See in Manteia.
OMIM - 151460
RefSeq - XM_006711474
RefSeq - NM_001267798
RefSeq - NM_002838
RefSeq - NM_080921
RefSeq - XM_006711472
RefSeq - XM_006711473
RefSeq Peptide - NP_002829
RefSeq Peptide - NP_563578
RefSeq Peptide - NP_001254727
swissprot - E9PKH0
swissprot - A0A0A0MT22
swissprot - A0A075B788
swissprot - M3ZCP1
swissprot - M9MMK8
swissprot - M9MML3
swissprot - M9MMK9
swissprot - M9MML4
swissprot - X6R433
Ensembl - ENSG00000081237
| | | | | Related genetic diseases (OMIM): | 608971 - Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 | | | 609532 - {Hepatitis C virus, susceptibility to}, 609532 |
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)
| PTPRS / Q13332 / protein tyrosine phosphatase, receptor type S | ENSG00000105426 | 27 | | PTPRD / P23468 / protein tyrosine phosphatase, receptor type D | ENSG00000153707 | 27 | | PTPRF / P10586 / protein tyrosine phosphatase, receptor type F | ENSG00000142949 | 26 | | PTPRK / Q15262 / protein tyrosine phosphatase, receptor type K | ENSG00000152894 | 22 | | PTPRM / P28827 / protein tyrosine phosphatase, receptor type M | ENSG00000173482 | 21 | | P23471 / PTPRZ1 / protein tyrosine phosphatase, receptor type Z1 | ENSG00000106278 | 21 | | PTPRT / O14522 / protein tyrosine phosphatase, receptor type T | ENSG00000196090 | 21 | | PTPRU / Q92729 / protein tyrosine phosphatase, receptor type U | ENSG00000060656 | 21 | | PTPRA / P18433 / protein tyrosine phosphatase, receptor type A | ENSG00000132670 | 21 | | PTPRE / P23469 / protein tyrosine phosphatase, receptor type E | ENSG00000132334 | 20 | | PTPRG / P23470 / protein tyrosine phosphatase, receptor type G | ENSG00000144724 | 19 |
Protein motifs (from Interpro)
| IPR000242 | PTP type protein phosphatase | | IPR000387 | Tyrosine specific protein phosphatases domain | | IPR003595 | Protein-tyrosine phosphatase, catalytic | | IPR003961 | Fibronectin type III | | IPR013783 | Immunoglobulin-like fold | | IPR016130 | Protein-tyrosine phosphatase, active site | | IPR016335 | Receptor-type tyrosine-protein phosphatase C | | IPR024739 | Protein tyrosine phosphatase, receptor type, N-terminal | | IPR029021 | Protein-tyrosine phosphatase-like | | IPR036116 | Fibronectin type III superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000155 | Oral ulcers | |
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| | HP:0000388 | Otitis media | |
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| | HP:0000964 | Eczema | "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators] |
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| | HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| | HP:0002014 | Diarrhea | |
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| | HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| | HP:0002716 | Lymphadenopathy | |
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| | HP:0004430 | Severe combined immunodeficiency | "Severe combine immunodeficiency (SCID) is a primary immune deficiency that is characterized by a severe defect in both the T- and B-lymphocyte systems." [HPO:curators] |
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| | HP:0005390 | Frequent bacterial, viral, and opportunistic infections | |
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| | HP:0005403 | Reduced number of T cells | |
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| | HP:0008866 | Failure to thrive secondary to recurrent infections | |
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Interacting proteins (from Reactome)
No match
0 s.
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