ENSG00000143278


Homo sapiens

Features
Gene ID: ENSG00000143278
  
Biological name :F13B
  
Synonyms : coagulation factor XIII B chain / F13B / P05160
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: q31.3
Gene start: 197039191
Gene end: 197067267
  
Corresponding Affymetrix probe sets: 207810_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000356382
NCBI entrez gene - 2165     See in Manteia.
OMIM - 134580
RefSeq - XM_011509286
RefSeq - NM_001994
RefSeq - XM_011509283
RefSeq - XM_011509284
RefSeq Peptide - NP_001985
swissprot - P05160
Ensembl - ENSG00000143278
  
Related genetic diseases (OMIM): 613235 - Factor XIIIB deficiency, 613235
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)
Ortholog nameID Species
 F13BENSGALG00000002369Gallus gallus
 F13bENSMUSG00000026368Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CFH / P08603 / complement factor HENSG0000000097132
CFHR5 / Q9BXR6 / complement factor H related 5ENSG0000013438926
SELP / P16109 / selectin PENSG0000017417519
CFHR4 / Q92496 / complement factor H related 4ENSG0000013436519
CFHR1 / Q03591 / complement factor H related 1ENSG0000024441416
SELE / P16581 / selectin EENSG0000000790815
C4BPA / P04003 / complement component 4 binding protein alphaENSG0000012383815
CFHR2 / P36980 / complement factor H related 2ENSG0000008091012
BX248415.1ENSG0000027691112
CFHR3 / Q02985 / complement factor H related 3ENSG0000011678511
CD46 / P15529 / CD46 moleculeENSG0000011733510
APOH / P02749 / apolipoprotein HENSG0000009158310
SELL / P14151 / selectin LENSG000001884049
CD55 / P08174 / CD55 molecule (Cromer blood group)ENSG000001963529


Protein motifs (from Interpro)
Interpro ID Name
 IPR000436  Sushi/SCR/CCP domain
 IPR035976  Sushi/SCR/CCP superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0007599 hemostasis IEA
 cellular_componentGO:0005576 extracellular region TAS


Pathways (from Reactome)
Pathway description
Common Pathway of Fibrin Clot Formation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0000978 Ecchymoses 
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 HP:0003577 Onset at birth 
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 HP:0004846 severe protracted bleeding after surgery 
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 HP:0008357 Partial deficiency of factor XIII:C 
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 HP:0011884 Abnormal umbilical stump bleeding "Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth." [DDD:akelly]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000124491 F13A1 / P00488 / coagulation factor XIII A chain  / complex
 ENSG00000180210 F2 / P00734 / coagulation factor II, thrombin  / reaction
 ENSG00000143278 F13B / P05160 / coagulation factor XIII B chain  / complex






 

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