ENSG00000142748
Homo sapiens | |
Features
| Gene ID: | ENSG00000142748 | | | | | Biological name : | FCN3 | | | | | Synonyms : | FCN3 / ficolin 3 / O75636 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | -1 | | Band: | p36.11 | | Gene start: | 27369112 | | Gene end: | 27374824 | | | | | Corresponding Affymetrix probe sets: | 205866_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000270879
Ensembl peptide - ENSP00000347077
NCBI entrez gene - 8547
See in Manteia.
OMIM - 604973
RefSeq - NM_173452
RefSeq - NM_003665
RefSeq Peptide - NP_003656
RefSeq Peptide - NP_775628
swissprot - O75636
swissprot - Q6UXM4
Ensembl - ENSG00000142748
| | | | | Related genetic diseases (OMIM): | 613860 - Immunodeficiency due to ficolin 3 deficiency, 613860 |
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)
No match
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR002181 | Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain | | IPR014715 | Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 | | IPR014716 | Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 | | IPR020837 | Fibrinogen, conserved site | | IPR036056 | Fibrinogen-like, C-terminal |
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:0002721 | Immunodeficiency | |
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| | HP:0002722 | Abscess formation in any organ | |
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| | HP:0002783 | Recurrent lower respiratory tract infections | |
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| | HP:0200043 | verrucae | "Benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas." [HPO:SKOEHLER] |
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Interacting proteins (from Reactome)
0 s.
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