ENSG00000124491
Homo sapiens | |
Features
| Gene ID: | ENSG00000124491 | | | | | Biological name : | F13A1 | | | | | Synonyms : | coagulation factor XIII A chain / F13A1 / P00488 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 6 | | Strand: | -1 | | Band: | p25.1 | | Gene start: | 6144085 | | Gene end: | 6321013 | | | | | Corresponding Affymetrix probe sets: | 203305_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000413334
Ensembl peptide - ENSP00000416295
Ensembl peptide - ENSP00000264870
Ensembl peptide - ENSP00000394693
Ensembl peptide - ENSP00000411114
NCBI entrez gene - 2162
See in Manteia.
OMIM - 134570
RefSeq - NM_000129
RefSeq Peptide - NP_000120
swissprot - H0Y4W5
swissprot - H0Y796
swissprot - A6PVK5
swissprot - P00488
swissprot - Q9NQP5
Ensembl - ENSG00000124491
| | | | | Related genetic diseases (OMIM): | 188050 - {Venous thrombosis, protection against}, 188050 | | | 608446 - {Myocardial infarction, protection against}, 608446 | | | 613225 - Factor XIIIA deficiency, 613225 |
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)
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:0000421 | Epistaxis | |
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| | HP:0000978 | Ecchymoses | |
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| | HP:0002170 | Intracranial hemorrhage | "A hemorrhage (bleeding) occuring within the skull." [HPO:curators] |
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| | HP:0003577 | Onset at birth | |
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| | HP:0005261 | Joint hemorrhage | |
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| | HP:0007420 | Spontaneous hematomas | |
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| | HP:0008357 | Partial deficiency of factor XIII:C | |
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Interacting proteins (from Reactome)
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