• Gene id: 173

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 (73481744: 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. Th
• OMIM: 104145

Protein Summary

• Protein general information: P43652  
  • Name: Afamin (Alpha albumin) (Alpha Alb)
  • Length: 599  
  • Mass: 69,069
• 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
  • CDD: cd00015
  • PDB: 5OKL
  • PDBsum: 5OKL
  • STRING: ENSP00000226355
• Other Databases: GeneCards:  AFM  Malacards:  AFM

Gene ontology

GO accession	Term name	Evidence code	Go 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	INFBASE: 20858448
Female infertility	INFBASE: 20858448
Unexplained azoospermia	MIK: 26662397
Male factor infertility	MIK: 16525715
Spermatogenesis defects	MIK: 26662397
Spermatogenesis defects	MIK: 16525715
Male infertility	MIK: 16525715
Spermatogenic defects	MIK: 16525715
Azoospermia	MIK: 26662397
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16525715	Male infertility, Important for spermatogenesis				Male infertility
26662397	Spermatogenic failure, unexplained azoospermia	16 CNVs in 13 patients with chormosomal abnormalities, 26 CNVs in 20 unexplained azoospermic patients		36(13 spermatogenic failure patients with chromosomal abnormalities, 20 unexplained azoospermia)	Male infertility	EDDM3A EDDM3B HLA-DRB1 HLA-DQA1 POTE B GOLGA8C DNMT3L ALF NPHP1 NRG1 RID2 ADAMTS20 TWF1 COX10 MAK and DNEL1
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)