ENSG00000112936
Homo sapiens | |
Features
| Gene ID: | ENSG00000112936 | | | | | Biological name : | C7 | | | | | Synonyms : | C7 / complement C7 / P10643 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 5 | | Strand: | 1 | | Band: | p13.1 | | Gene start: | 40909252 | | Gene end: | 40982939 | | | | | Corresponding Affymetrix probe sets: | 202992_at (Human Genome U133 Plus 2.0 Array) 235979_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000322061
NCBI entrez gene - 730
See in Manteia.
OMIM - 217070
RefSeq - NM_000587
RefSeq Peptide - NP_000578
swissprot - P10643
Ensembl - ENSG00000112936
| | | | | Related genetic diseases (OMIM): | 610102 - C7 deficiency, 610102 |
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)
| IPR000436 | Sushi/SCR/CCP domain | | IPR000884 | Thrombospondin type-1 (TSP1) repeat | | IPR001862 | Membrane attack complex component/perforin/complement C9 | | IPR002172 | Low-density lipoprotein (LDL) receptor class A repeat | | IPR003884 | Factor I / membrane attack complex | | IPR020863 | Membrane attack complex component/perforin domain, conserved site | | IPR020864 | Membrane attack complex component/perforin (MACPF) domain | | IPR023415 | Low-density lipoprotein (LDL) receptor class A, conserved site | | IPR035976 | Sushi/SCR/CCP superfamily | | IPR036383 | Thrombospondin type-1 (TSP1) repeat superfamily | | IPR037564 | Complement component C7 |
Gene Ontology (GO)
Pathways (from Reactome)
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:0004431 | Complement deficiency | |
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| | HP:0005381 | Recurrent meningococcal disease | "Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus." [HPO:curators] |
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Interacting proteins (from Reactome)
1 s.
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