• Gene id: 81693

Gene Summary

• Gene Symbol: AMN   Gene   UCSC   Ensembl
• Aliases: IGS2, PRO1028, amnionless
• Gene name: amnion associated transmembrane protein
• Alternate names: protein amnionless, amnionless homolog, visceral endoderm-specific type 1 transmembrane protein,
• Gene location: 14q32.32 (102922429: 102933596)     Exons: 14     NC_000014.9
• Gene summary(Entrez): The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mo
• OMIM: 605799

Protein Summary

• Protein general information: Q9BXJ7  
  • Name: Protein amnionless [Cleaved into: Soluble protein amnionless]
  • Length: 453  
  • Mass: 47754
  • Tissue specificity: Detected in proximal tubules in the kidney cortex (at protein level) (PubMed
• Sequence:

  MGVLGRVLLWLQLCALTQAVSKLWVPNTDFDVAANWSQNRTPCAGGAVEFPADKMVSVLVQEGHAVSDMLLPLDG
  ELVLASGAGFGVSDVGSHLDCGAGEPAVFRDSDRFSWHDPHLWRSGDEAPGLFFVDAERVPCRHDDVFFPPSASF
  RVGLGPGASPVRVRSISALGRTFTRDEDLAVFLASRAGRLRFHGPGALSVGPEDCADPSGCVCGNAEAQPWICAA
  LLQPLGGRCPQAACHSALRPQGQCCDLCGAVVLLTHGPAFDLERYRARILDTFLGLPQYHGLQVAVSKVPRSSRL
  READTEIQVVLVENGPETGGAGRLARALLADVAENGEALGVLEATMRESGAHVWGSSAAGLAGGVAAAVLLALLV
  LLVAPPLLRRAGRLRWRRHEAAAPAGAPLGFRNPVFDVTASEELPLPRRLSLVPKAAADSTSHSYFVNPLFAGAE
  AEA

• Structural information:
  • Protein Domains: (202..25-)
    (/note="VWFC"-)
  • Interpro: IPR026112  
  • PDB: 6GJE
  • PDBsum: 6GJE
  • STRING: ENSP00000299155
• Other Databases: GeneCards:  AMN  Malacards:  AMN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006898	receptor-mediated endocytosis	IMP	biological process
GO:0030139	endocytic vesicle	IBA	cellular component
GO:0016324	apical plasma membrane	IBA	cellular component
GO:0008104	protein localization	IBA	biological process
GO:0006898	receptor-mediated endocytosis	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0009235	cobalamin metabolic process	TAS	biological process
GO:0034384	high-density lipoprotein particle clearance	TAS	biological process
GO:0031526	brush border membrane	IEA	cellular component
GO:0030139	endocytic vesicle	IEA	cellular component
GO:0008104	protein localization	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0045177	apical part of cell	IEA	cellular component
GO:0007588	excretion	IEA	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0015889	cobalamin transport	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0030139	endocytic vesicle	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0006898	receptor-mediated endocytosis	IDA	biological process
GO:0043001	Golgi to plasma membrane protein transport	IDA	biological process
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Vitamin B12 deficiency anaemia	KEGG:H01277
Vitamin B12 deficiency anaemia	KEGG:H01277
Megaloblastic anemia	PMID:12590260
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray