ENSG00000171560
Homo sapiens | |
Features
| Gene ID: | ENSG00000171560 | | | | | Biological name : | FGA | | | | | Synonyms : | FGA / fibrinogen alpha chain / P02671 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 4 | | Strand: | -1 | | Band: | q31.3 | | Gene start: | 154583126 | | Gene end: | 154590766 | | | | | Corresponding Affymetrix probe sets: | 205649_s_at (Human Genome U133 Plus 2.0 Array) 205650_s_at (Human Genome U133 Plus 2.0 Array) 231671_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000385981
Ensembl peptide - ENSP00000478487
Ensembl peptide - ENSP00000306361
NCBI entrez gene - 2243
See in Manteia.
OMIM - 134820
RefSeq - NM_000508
RefSeq - NM_021871
RefSeq Peptide - NP_000499
RefSeq Peptide - NP_068657
swissprot - A0A087WUA0
swissprot - P02671
Ensembl - ENSG00000171560
| | | | | Related genetic diseases (OMIM): | 105200 - Amyloidosis, familial visceral, 105200 | | | 202400 - Afibrinogenemia, congenital, 202400 | | | 616004 - Dysfibrinogenemia, congenital, 616004 |
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)
| IPR002181 | Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain | | IPR012290 | Fibrinogen, alpha/beta/gamma chain, coiled coil 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 | | IPR021996 | Fibrinogen alpha C domain | | IPR036056 | Fibrinogen-like, C-terminal | | IPR037579 | Fibrinogen alpha chain |
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] |
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| | 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:0000093 | Proteinuria | |
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| | HP:0000100 | Nephrotic syndrome | |
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| | HP:0000112 | Nephropathy | "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
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| | HP:0000225 | Gingival bleeding | |
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| | HP:0000421 | Epistaxis | |
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| | HP:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
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| | HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| | HP:0000969 | Edema | "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators] |
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| | HP:0000988 | Skin rash | |
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| | HP:0001342 | Cerebral hemorrhage | "A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself." [HPO:curators] |
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| | HP:0001386 | Joint swelling | |
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| | HP:0001396 | Cholestasis | |
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| | HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| | HP:0001892 | Bleeding diathesis | "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators] |
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| | HP:0002239 | Gastrointestinal hemorrhage | |
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| | HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| | HP:0003216 | Generalized amyloid deposition | |
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| | HP:0004936 | Venous thrombosis | |
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| | HP:0005268 | Increased risk of spontaneous abortion | |
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| | HP:0011900 | Hypofibrinogenemia | "Decreased concentration of fibrinogen in the blood." [HPO:probinson] |
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| | HP:0012223 | Splenic rupture | "A breach of the capsule of the spleen." [HPO:probinson] |
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| | HP:0400008 | Menometrorrhagia | "Prolonged/excessive menses and bleeding at irregular intervals.
" [pmid:22594864] |
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Interacting proteins (from Reactome)
| ENSG00000050820 | BCAR1 / P56945 / BCAR1, Cas family scaffolding protein | / complex / reaction | | ENSG00000035403 | VCL / P18206 / vinculin | / complex | | ENSG00000103653 | CSK / P41240 / C-terminal Src kinase | / reaction / complex | | ENSG00000005961 | ITGA2B / P08514 / integrin subunit alpha 2b | / reaction / complex | | ENSG00000140678 | ITGAX / P20702 / integrin subunit alpha X | / complex / reaction | | ENSG00000160255 | ITGB2 / P05107 / integrin subunit beta 2 | / reaction / complex | | ENSG00000115904 | SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1 | / reaction / complex | | ENSG00000137076 | TLN1 / Q9Y490 / talin 1 | / complex / reaction | | ENSG00000171564 | FGB / P02675 / fibrinogen beta chain | / complex / reaction | | ENSG00000167193 | CRK / P46108 / CRK proto-oncogene, adaptor protein | / complex / reaction | | ENSG00000116473 | RAP1A / P62834 / RAP1A, member of RAS oncogene family | / complex / reaction | | ENSG00000197122 | SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase | / complex / reaction | | ENSG00000136869 | TLR4 / O00206 / toll like receptor 4 | / complex / reaction | | ENSG00000154589 | LY96 / Q9Y6Y9 / lymphocyte antigen 96 | / reaction / complex | | ENSG00000127314 | RAP1B / P61224 / RAP1B, member of RAS oncogene family | / complex / reaction | | ENSG00000177885 | GRB2 / P62993 / growth factor receptor bound protein 2 | / reaction / complex | | ENSG00000077420 | Q7Z5R6 / APBB1IP / amyloid beta precursor protein binding family B member 1 interacting protein | / reaction / complex | | ENSG00000171557 | FGG / P02679 / fibrinogen gamma chain | / reaction / complex | | ENSG00000171560 | FGA / P02671 / fibrinogen alpha chain | / - / complex / reaction | | ENSG00000259207 | ITGB3 / P05106 / integrin subunit beta 3 | / reaction / complex | | ENSG00000180210 | F2 / P00734 / coagulation factor II, thrombin | / reaction | | ENSG00000169398 | PTK2 / Q05397 / protein tyrosine kinase 2 | / complex / reaction | | ENSG00000196396 | PTPN1 / P18031 / protein tyrosine phosphatase, non-receptor type 1 | / reaction | | ENSG00000165025 | SYK / P43405 / spleen associated tyrosine kinase | / reaction / complex | | ENSG00000156886 | ITGAD / Q13349 / integrin subunit alpha D | / reaction / complex |
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