ENSG00000021852
Homo sapiens | |
Features
| Gene ID: | ENSG00000021852 | | | | | Biological name : | C8B | | | | | Synonyms : | C8B / complement C8 beta chain / P07358 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | -1 | | Band: | p32.2 | | Gene start: | 56929210 | | Gene end: | 56966140 | | | | | Corresponding Affymetrix probe sets: | 206979_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000360281
Ensembl peptide - ENSP00000440113
Ensembl peptide - ENSP00000442548
NCBI entrez gene - 732
See in Manteia.
OMIM - 120960
RefSeq - XM_017002235
RefSeq - NM_000066
RefSeq - NM_001278543
RefSeq - NM_001278544
RefSeq Peptide - NP_000057
RefSeq Peptide - NP_001265472
RefSeq Peptide - NP_001265473
swissprot - F5GY80
swissprot - F5H7G1
swissprot - P07358
Ensembl - ENSG00000021852
| | | | | Related genetic diseases (OMIM): | 613789 - C8 deficiency, type II, 613789 |
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)
| IPR000884 | Thrombospondin type-1 (TSP1) repeat | | IPR001862 | Membrane attack complex component/perforin/complement C9 | | IPR002172 | Low-density lipoprotein (LDL) receptor class A repeat | | 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 | | IPR036055 | LDL receptor-like superfamily | | IPR036383 | Thrombospondin type-1 (TSP1) repeat superfamily | | IPR037566 | Complement component C8 beta chain |
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:0001287 | Meningitis | |
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| | HP:0004434 | C8 deficiency | |
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| | HP:0005430 | Recurrent neisserial infections | "Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis)." [HPO:curators] |
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Interacting proteins (from Reactome)
0 s.
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