F13A1 (coagulation factor XIII A chain)

2007-06-01  

Identity

HGNC
F13A1
LOCATION
6p25.1
LOCUSID
2162
ALIAS
F13A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2162
MIM: 134570
HGNC: 3531
Ensembl: ENSG00000124491

Variants:

dbSNP: 2162
ClinVar: 2162
TCGA: ENSG00000124491
COSMIC: F13A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124491ENST00000264870P00488
ENSG00000124491ENST00000414279Q9NQP5
ENSG00000124491ENST00000431222A6PVK5
ENSG00000124491ENST00000445223H0Y4W5
ENSG00000124491ENST00000451619H0Y796

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Formation of Fibrin Clot (Clotting Cascade)REACTOMER-HSA-140877
Common Pathway of Fibrin Clot FormationREACTOMER-HSA-140875
Interleukin-4 and 13 signalingREACTOMER-HSA-6785807

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165984462photodynamic therapyChemicalClinicalAnnotationassociatedPD
PA443450AsthmaDiseaseLiterature, MultilinkAnnotationassociated24934276
PA446974Choroidal NeovascularizationDiseaseClinicalAnnotationassociatedPD
PA448497aspirinChemicalClinicalAnnotationassociatedPD12515735
PA451906warfarinChemicalVariantAnnotationnot associated

References

Pubmed IDYearTitleCitations
373146742024Clinical Profile of Congenital Factor XIII Deficiency in Children.0
378838022024Reciprocal stabilization of coagulation factor XIII-A and -B subunits is a determinant of plasma FXIII concentration.1
382467062024Linking inflammation and angiogenesis with fibrogenesis: Expression of FXIIIA, MMP-9, and VEGF in oral submucous fibrosis.0
373146742024Clinical Profile of Congenital Factor XIII Deficiency in Children.0
378838022024Reciprocal stabilization of coagulation factor XIII-A and -B subunits is a determinant of plasma FXIII concentration.1
382467062024Linking inflammation and angiogenesis with fibrogenesis: Expression of FXIIIA, MMP-9, and VEGF in oral submucous fibrosis.0
359934712023MicroRNA 155, Factor XIII and Type 2 Diabetes Mellitus and Coronary Heart Disease.1
369022312023Cellular FXIII in Human Macrophage-Derived Foam Cells.0
369877252023[Gene diagnosis of a family with coagulation factor ⅩⅢ deficiency caused by large deletion of F13A1 gene].0
371801212023Macrophages-derived Factor XIII links coagulation to inflammation in COPD.2
359934712023MicroRNA 155, Factor XIII and Type 2 Diabetes Mellitus and Coronary Heart Disease.1
369022312023Cellular FXIII in Human Macrophage-Derived Foam Cells.0
369877252023[Gene diagnosis of a family with coagulation factor ⅩⅢ deficiency caused by large deletion of F13A1 gene].0
371801212023Macrophages-derived Factor XIII links coagulation to inflammation in COPD.2
347830232022Fibrinogen β chain and FXIII polymorphisms affect fibrin clot properties in acute pulmonary embolism.5

Citation

Dessen P

F13A1 (coagulation factor XIII A chain)

Atlas Genet Cytogenet Oncol Haematol. 2007-06-01

Online version: http://atlasgeneticsoncology.org/gene/47551