ENSG00000131187
Homo sapiens | |
Features
| Gene ID: | ENSG00000131187 | | | | | Biological name : | F12 | | | | | Synonyms : | coagulation factor XII / F12 / P00748 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 5 | | Strand: | -1 | | Band: | q35.3 | | Gene start: | 177402140 | | Gene end: | 177409576 | | | | | Corresponding Affymetrix probe sets: | 205774_at (Human Genome U133 Plus 2.0 Array) 215961_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000253496
NCBI entrez gene - 2161
See in Manteia.
OMIM - 610619
RefSeq - NM_000505
RefSeq - XM_011534462
RefSeq Peptide - NP_000496
swissprot - P00748
Ensembl - ENSG00000131187
| | | | | Related genetic diseases (OMIM): | 234000 - Factor XII deficiency, 234000 | | | 610618 - Angioedema, hereditary, type III, 610618 |
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)
| IPR000001 | Kringle | | IPR000083 | Fibronectin, type I | | IPR000562 | Fibronectin type II 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 | | IPR013032 | EGF-like, conserved site | | IPR013806 | Kringle-like fold | | IPR014394 | Coagulation factor XII/hepatocyte growth factor activator | | IPR018056 | Kringle, conserved site | | IPR018114 | Serine proteases, trypsin family, histidine active site | | IPR033116 | Serine proteases, trypsin family, serine active site | | IPR036943 | Fibronectin type II 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] |
Show
| | 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] |
Show
| | HP:0000282 | Facial edema | |
Show
| | HP:0002013 | Vomiting | |
Show
| | HP:0002574 | Episodic abdominal pain | |
Show
| | HP:0003645 | Prolonged partial thromboplastin time | |
Show
| | HP:0004841 | Factor XII deficiency | |
Show
| | HP:0005225 | Intestinal edema | |
Show
| | HP:0005542 | Whole-blood clotting time prolonged | |
Show
| | HP:0011855 | Pharyngeal edema | "Abnormal accumulation of fluid leading to swelling of the pharynx." [HPO:probinson] |
Show
| | HP:0012271 | Episodic upper airway obstruction | "Intermittent episodes of increased resistance to the passage of air in the upper airway." [HPO:probinson] |
Show
| | HP:0100665 | Angioedema | "Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands." [HPO:sdoelken] |
Show
|
Interacting proteins (from Reactome)
0 s.
|
