ENSG00000197766
Homo sapiens | |
Features
| Gene ID: | ENSG00000197766 | | | | | Biological name : | CFD | | | | | Synonyms : | CFD / complement factor D / P00746 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 19 | | Strand: | 1 | | Band: | p13.3 | | Gene start: | 859643 | | Gene end: | 863630 | | | | | Corresponding Affymetrix probe sets: | 205382_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000332139
Ensembl peptide - ENSP00000468253
NCBI entrez gene - 1675
See in Manteia.
OMIM - 134350
RefSeq - NM_001317335
RefSeq - NM_001928
RefSeq Peptide - NP_001304264
RefSeq Peptide - NP_001919
swissprot - P00746
swissprot - K7ERG9
Ensembl - ENSG00000197766
| | | | | Related genetic diseases (OMIM): | 613912 - Complement factor D deficiency, 613912 |
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)
| IPR001254 | Serine proteases, trypsin domain | | IPR001314 | Peptidase S1A, chymotrypsin family | | IPR009003 | Peptidase S1, PA clan | | IPR018114 | Serine proteases, trypsin family, histidine active site | | IPR033116 | Serine proteases, trypsin family, serine active site | | IPR037561 | Complement factor D |
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:0002718 | Recurrent bacterial infections | |
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| | HP:0003828 | Variable expressivity | |
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| | HP:0004431 | Complement deficiency | |
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Interacting proteins (from Reactome)
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