Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 173
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol AFM   Gene   UCSC   Ensembl
Aliases ALB2, ALBA, ALF
Gene name afamin
Alternate names afamin, alpha-Alb, alpha-albumin,
Gene location 4q13.3 (73481739: 73504000)     Exons: 15     NC_000004.12
Gene summary(Entrez) This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008]
OMIM 104145

Protein Summary

Protein general information P43652  

Name: Afamin (Alpha albumin) (Alpha Alb)

Length: 599  Mass: 69,069

Tissue specificity: High level detected in plasma but also in extravascular fluids such as follicular and cerebrospinal fluids (at protein level). {ECO

Sequence MKLLKLTGFIFFLFFLTESLTLPTQPRDIENFNSTQKFIEDNIEYITIIAFAQYVQEATFEEMEKLVKDMVEYKD
RCMADKTLPECSKLPNNVLQEKICAMEGLPQKHNFSHCCSKVDAQRRLCFFYNKKSDVGFLPPFPTLDPEEKCQA
YESNRESLLNHFLYEVARRNPFVFAPTLLTVAVHFEEVAKSCCEEQNKVNCLQTRAIPVTQYLKAFSSYQKHVCG
ALLKFGTKVVHFIYIAILSQKFPKIEFKELISLVEDVSSNYDGCCEGDVVQCIRDTSKVMNHICSKQDSISSKIK
ECCEKKIPERGQCIINSNKDDRPKDLSLREGKFTDSENVCQERDADPDTFFAKFTFEYSRRHPDLSIPELLRIVQ
IYKDLLRNCCNTENPPGCYRYAEDKFNETTEKSLKMVQQECKHFQNLGKDGLKYHYLIRLTKIAPQLSTEELVSL
GEKMVTAFTTCCTLSEEFACVDNLADLVFGELCGVNENRTINPAVDHCCKTNFAFRRPCFESLKADKTYVPPPFS
QDLFTFHADMCQSQNEELQRKTDRFLVNLVKLKHELTDEELQSLFTNFANVVDKCCKAESPEVCFNEESPKIGN
Structural information
Protein Domains
Albumin (22-210)
Albumin (211-403)
Albumin (404-599)
Interpro:  IPR000264 IPR020858 IPR021177 IPR020857 IPR014760
Prosite:   PS00212 PS51438

Pfam:  
PF00273
CDD:   cd00015
STRING:   ENSP00000226355;
Other Databases GeneCards:  AFM;  Malacards:  AFM

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0008431 vitamin E binding
IPI molecular_function
GO:0008431 vitamin E binding
IDA molecular_function
GO:0051180 vitamin transport
IDA biological_process
GO:0051180 vitamin transport
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0072562 blood microparticle
IDA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0006810 transport
IEA biological_process
GO:0006810 transport
IEA biological_process
GO:0008431 vitamin E binding
IPI molecular_function
GO:0008431 vitamin E binding
IDA molecular_function
GO:0051180 vitamin transport
IDA biological_process
GO:0051180 vitamin transport
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0072562 blood microparticle
IDA cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0008431 vitamin E binding
IPI molecular_function
GO:0008431 vitamin E binding
IDA molecular_function
GO:0051180 vitamin transport
IDA biological_process
GO:0051180 vitamin transport
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0072562 blood microparticle
IDA cellular_component

Diseases

Associated diseases References
Endometriosis PMID: 20858448
Endometriosis INFBASE20858448

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
20858448 Endometrio
sis

242 reproducti
ve-age women wa
s to determine
the concentrati
on of afamin in
the serum and
peritoneal flui
d of women with
and without en
dometriosis
afamin
Show abstract