Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	81693
Gene name Gene Name - the full gene name approved by the HGNC.	Amnion associated transmembrane protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AMN
Synonyms (NCBI Gene) Gene synonyms aliases	IGS2, PRO1028, amnionless
Disease Acronyms (UniProt) Disease acronyms from UniProt database	IGS2
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q32.32
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(26)

SNP ID	Visualize variation	Clinical significance	Consequence
rs119478058	C>A,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs144077391	G>A,C	Likely-pathogenic	Intron variant
rs386834160	CCATCCCGCCCCGCC>-	Likely-pathogenic	Intron variant
rs386834161	CCTCGCCCCGCCGCG>-	Likely-pathogenic	Intron variant
rs386834162	TCGCCCCGCCGCGGG>-	Likely-pathogenic	Intron variant
rs386834163	CCTCGGCG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386834164	C>T	Uncertain-significance, benign, likely-pathogenic	Intron variant
rs386834165	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386834166	C>T	Likely-pathogenic	Intron variant
rs386834167	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386834168	G>-	Likely-pathogenic, pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs386834169	G>C	Likely-pathogenic	Splice acceptor variant
rs386834170	A>G	Likely-pathogenic	Splice acceptor variant
rs386834171	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs386834172	G>T	Likely-pathogenic	Upstream transcript variant, splice donor variant, 5 prime UTR variant, genic upstream transcript variant
rs386834173	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386834174	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs386834175	AGCCCCTGGGCGGCCGCTGCCCCCAGGCCGCCTGCCACAGCGCCCTCC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs386834176	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386834177	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs386834178	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs386834179	->CCCG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs969552874	G>C	Likely-pathogenic	Splice acceptor variant
rs1555380625	->GT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555381324	->CT	Pathogenic	Coding sequence variant, frameshift variant
rs1555381485	G>A	Likely-pathogenic	Splice donor variant

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IPI	14576052
GO:0005515	Function	Protein binding	IPI	30523278
GO:0005615	Component	Extracellular space	IDA	14576052
GO:0005886	Component	Plasma membrane	TAS
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006898	Process	Receptor-mediated endocytosis	IBA	21873635
GO:0006898	Process	Receptor-mediated endocytosis	IDA	14576052
GO:0006898	Process	Receptor-mediated endocytosis	IMP	20088845
GO:0007275	Process	Multicellular organism development	IEA
GO:0007588	Process	Excretion	IEA
GO:0008104	Process	Protein localization	IBA	21873635
GO:0009235	Process	Cobalamin metabolic process	TAS
GO:0010008	Component	Endosome membrane	TAS
GO:0015889	Process	Cobalamin transport	IDA	14576052
GO:0016021	Component	Integral component of membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA	21873635
GO:0016324	Component	Apical plasma membrane	IDA	14576052
GO:0030139	Component	Endocytic vesicle	IBA	21873635
GO:0030139	Component	Endocytic vesicle	IDA	14576052
GO:0031526	Component	Brush border membrane	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0034384	Process	High-density lipoprotein particle clearance	TAS
GO:0043001	Process	Golgi to plasma membrane protein transport	IDA	14576052
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
605799	14604	ENSG00000166126

Protein

UniProt ID

Q9BXJ7

Protein name

Protein amnionless [Cleaved into: Soluble protein amnionless]

Protein function

Membrane-bound component of the endocytic receptor formed by AMN and CUBN (PubMed:14576052, PubMed:29402915, PubMed:30523278). Required for normal CUBN glycosylation and trafficking to the cell surface (PubMed:14576052, PubMed:29402915). The com

PDB

6GJE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14828	Amnionless	21 → 447	Amnionless	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in proximal tubules in the kidney cortex (at protein level) (PubMed:14576052, PubMed:29402915). Long isoforms are highly expressed in small intestine, colon and kidney (renal proximal tubule epithelial cells). Shorter isoforms

Sequence

MGVLGRVLLWLQLCALTQAVSKLWVPNTDFDVAANWSQNRTPCAGGAVEFPADKMVSVLV
QEGHAVSDMLLPLDGELVLASGAGFGVSDVGSHLDCGAGEPAVFRDSDRFSWHDPHLWRS
GDEAPGLFFVDAERVPCRHDDVFFPPSASFRVGLGPGASPVRVRSISALGRTFTRDEDLA
VFLASRAGRLRFHGPGALSVGPEDCADPSGCVCGNAEAQPWICAALLQPLGGRCPQAACH
SALRPQGQCCDLCGAVVLLTHGPAFDLERYRARILDTFLGLPQYHGLQVAVSKVPRSSRL
READTEIQVVLVENGPETGGAGRLARALLADVAENGEALGVLEATMRESGAHVWGSSAAG
LAGGVAAAVLLALLVLLVAPPLLRRAGRLRWRRHEAAAPAGAPLGFRNPVFDVTASEELP
LPRRLSLVPKAAADSTSHSYFVNPLFAGAEAEA

Sequence length

453

Interactions

View interactions

	KEGG		Reactome
	Vitamin digestion and absorption		Cobalamin (Cbl, vitamin B12) transport and metabolism Defective AMN causes hereditary megaloblastic anemia 1 Defective CUBN causes hereditary megaloblastic anemia 1 HDL clearance

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia, Megaloblastic, Megaloblastic anemia due to inborn errors of metabolism, Megaloblastic Anemia 1	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)	21750092, 26040326, 12590260, 22929189, 29402915, 17285242, 30523278, 22631584, 15024727
Imerslund-grasbeck syndrome	Imerslund-Gr�sbeck syndrome	rs119478058, rs121434430, rs1205598688, rs386833766, rs386833767, rs386833768, rs386833769, rs386833770, rs386833771, rs182512508, rs386833772, rs386833773, rs386833774, rs386833775, rs386833776 View all (68 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Imerslund-Grasbeck Syndrome	Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1			GenCC

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma	Associate	19096147
Anemia	Associate	39294696
Bone Marrow Failure Disorders	Associate	39294696
Carcinogenesis	Associate	19096147
Colorectal Neoplasms	Associate	19096147
Imerslund Grasbeck syndrome	Associate	15738392, 21750092, 22929189, 29402915, 39294696, 39334390
Methylmalonic Aciduria and Homocystinuria CblF Type	Associate	15738392
Proteinuria	Associate	21750092

AMN (amnion associated transmembrane protein)