ENSG00000115718
Homo sapiens | |
Features
| Gene ID: | ENSG00000115718 | | | | | Biological name : | PROC | | | | | Synonyms : | P04070 / PROC / protein C, inactivator of coagulation factors Va and VIIIa | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 2 | | Strand: | 1 | | Band: | q14.3 | | Gene start: | 127418427 | | Gene end: | 127429246 | | | | | Corresponding Affymetrix probe sets: | 206259_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000386679
Ensembl peptide - ENSP00000412697
Ensembl peptide - ENSP00000411241
Ensembl peptide - ENSP00000406295
Ensembl peptide - ENSP00000392606
Ensembl peptide - ENSP00000391220
Ensembl peptide - ENSP00000234071
Ensembl peptide - ENSP00000384225
NCBI entrez gene - 5624
See in Manteia.
OMIM - 612283
RefSeq - NM_000312
RefSeq - XM_005263717
RefSeq - XM_017004505
RefSeq - XM_017004506
RefSeq Peptide - NP_000303
swissprot - P04070
swissprot - H7BYX9
swissprot - E7EU72
swissprot - E7ENR9
swissprot - E7END6
swissprot - F2Z2A0
swissprot - E7EVH6
Ensembl - ENSG00000115718
| | | | | Related genetic diseases (OMIM): | 176860 - Thrombophilia due to protein C deficiency, autosomal dominant, 176860 | | | 612304 - Thrombophilia due to protein C deficiency, autosomal recessive, 612304 |
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)
| IPR000152 | EGF-type aspartate/asparagine hydroxylation site | | IPR000294 | Gamma-carboxyglutamic acid-rich (GLA) domain | | IPR000742 | EGF-like domain | | IPR001254 | Serine proteases, trypsin domain | | IPR001314 | Peptidase S1A, chymotrypsin family | | IPR001881 | EGF-like calcium-binding domain | | IPR009003 | Peptidase S1, PA clan | | IPR012224 | Peptidase S1A, coagulation factor VII/IX/X/C/Z | | IPR013032 | EGF-like, conserved site | | IPR017857 | Coagulation factor-like, Gla domain superfamily | | IPR018097 | EGF-like calcium-binding, conserved site | | IPR018114 | Serine proteases, trypsin family, histidine active site | | IPR033116 | Serine proteases, trypsin family, serine active site | | IPR035972 | Gamma-carboxyglutamic acid-rich (GLA) domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | 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:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] |
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| | HP:0000707 | Neurological abnormality | "An abnormality of the central or peripheral nervous system." [HPO:curators] |
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| | HP:0000963 | Thin skin | |
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| | HP:0000979 | Purpura | |
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| | HP:0001000 | Abnormality of skin pigmentation | |
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| | HP:0001038 | Warfarin-induced skin necrosis | |
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| | HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| | HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| | HP:0002204 | Pulmonary embolism | |
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| | HP:0002625 | Deep venous thrombosis | |
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| | HP:0002638 | Superficial thrombophlebitis | |
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| | HP:0003828 | Variable expressivity | |
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| | HP:0004936 | Venous thrombosis | |
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| | HP:0005293 | Frequent early-onset venous insufficiency | |
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| | HP:0005305 | Cerebral venous thrombosis | |
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| | HP:0005543 | Protein C deficiency | |
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| | HP:0007902 | Vitreous hemorrhage | |
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| | HP:0100659 | Abnormality of the cerebral vasculature | |
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| | HP:0100724 | Hypercoagulability | |
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| | HP:0100758 | Gangrene | "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873] |
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Interacting proteins (from Reactome)
| ENSG00000101000 | PROCR / Q9UNN8 / protein C receptor | / reaction / complex | | ENSG00000115486 | GGCX / P38435 / gamma-glutamyl carboxylase | / reaction | | ENSG00000198734 | F5 / P12259 / coagulation factor V | / reaction | | ENSG00000188488 | P05154 / SERPINA5 / serpin family A member 5 | / reaction / complex | | ENSG00000184500 | PROS1 / P07225 / protein S | / reaction / complex | | ENSG00000115718 | PROC / P04070 / protein C, inactivator of coagulation factors Va and VIIIa | / complex | | ENSG00000185010 | F8 / P00451 / coagulation factor VIII | / reaction | | ENSG00000140564 | FURIN / P09958 / furin, paired basic amino acid cleaving enzyme | / reaction | | ENSG00000180210 | F2 / P00734 / coagulation factor II, thrombin | / reaction | | ENSG00000181104 | F2R / P25116 / coagulation factor II thrombin receptor | / complex / reaction |
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