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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	81693
Gene name	Amnion associated transmembrane protein
Gene symbol	AMN
Synonyms (NCBI Gene)	IGS2PRO1028amnionless
Chromosome	14
Chromosome location	14q32.32
Summary	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 (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IPI	14576052
GO:0005515	Function	Protein binding	IPI	30523278
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	14576052
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006898	Process	Receptor-mediated endocytosis	IBA
GO:0006898	Process	Receptor-mediated endocytosis	IDA	14576052
GO:0006898	Process	Receptor-mediated endocytosis	IMP	20088845
GO:0008104	Process	Intracellular protein localization	IBA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0009235	Process	Cobalamin metabolic process	IDA	14576052
GO:0010008	Component	Endosome membrane	IEA
GO:0015031	Process	Protein transport	IEA
GO:0015889	Process	Cobalamin transport	IDA	14576052
GO:0016020	Component	Membrane	IDA	14576052
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	14576052
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	NAS	14576052
GO:0030139	Component	Endocytic vesicle	IBA
GO:0030139	Component	Endocytic vesicle	IDA	14576052
GO:0030139	Component	Endocytic vesicle	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0031528	Component	Microvillus membrane	IDA	14576052
GO:0032991	Component	Protein-containing complex	IEA
GO:0038024	Function	Cargo receptor activity	IDA	14576052
GO:0043001	Process	Golgi to plasma membrane protein transport	IDA	14576052
GO:0043235	Component	Receptor complex	IPI	30523278
GO:0045177	Component	Apical part of cell	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097017	Process	Renal protein absorption	IEA

MIM	HGNC	e!Ensembl
605799	14604	ENSG00000166126

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AMN-related disorder	Likely pathogenic; Pathogenic	rs1401073549	RCV003399488	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cobalamin deficiency	Pathogenic	rs1555381324	RCV000626970	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Imerslund-Grasbeck syndrome	Likely pathogenic; Pathogenic	rs119478058, rs1401073549, rs971064120, rs2542685848, rs2542700246, rs2542696792, rs761051062, rs1335752004, rs2542694975, rs2542696581, rs1468648701, rs1566825424, rs921153411, rs2542696599, rs2542697169 View all (37 more)	RCV001851660 RCV003611643 RCV003505458 RCV003505776 RCV003505795 View all (47 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Imerslund-Grasbeck syndrome type 1	Pathogenic	rs386834177	RCV001280865	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Imerslund-Grasbeck syndrome type 2	Pathogenic; Likely pathogenic	rs2139308896, rs2542695969, rs119478058, rs2542694975, rs1566825554, rs1039454314, rs1163522093, rs1555381485, rs969552874, rs386834168, rs386834169, rs2139312594, rs1566829097, rs769770182, rs375774640	RCV001783494 RCV003313282 RCV000005036 RCV005013052 RCV005013137 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Megaloblastic anemia	Pathogenic	rs1555381324	RCV000626970	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANEMIA, MEGALOBLASTIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXTRAVASATION OF DIAGNOSTIC AND THERAPEUTIC MATERIALS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMERSLUND-GRASBECK SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMERSLUND-GRASBECK SYNDROME 2	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEGALOBLASTIC ANEMIA 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN B 12 DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (42)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	20514524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16050798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	18344354, 2161209, 2309698, 25499606, 28722826, 31526374, 7276981, 8811127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenomyeloneuropathy	Adrenomyeloneuropathy	BEFREE	2309698, 25499606, 8811127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	39294696	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	LHGDN	12590260		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Megaloblastic	Anemia	BEFREE	16047053		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Megaloblastic	Anemia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Megaloblastic	Anemia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	25499606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	39294696	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19096147	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Color blindness	Color Blindness	BEFREE	2309698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19096147	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	LHGDN	17979745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	2254452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	29030796		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	Hypercholesterolemia	BEFREE	20088845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	24685009		★★★★★ ★☆☆☆☆ Found in Text Mining only
	Imerslund-Grasbeck Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrinsic Factor Deficiency	Intrinsic Factor Deficiency	BEFREE	22929189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	24685009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	20514524		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	BEFREE	16050798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	12590260, 22078000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Megaloblastic Anemia 1	Anemia	BEFREE	12590260, 15738392, 16047053, 21750092, 22078000, 22929189, 24044590		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megaloblastic Anemia 1	Anemia	CLINVAR_DG	12590260, 22929189		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megaloblastic Anemia 1	Anemia	UNIPROT_DG	12590260, 22631584, 22929189, 26040326, 29402915, 30523278		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megaloblastic Anemia 1	Anemia	GENOMICS_ENGLAND_DG	12590260, 15024727, 17285242, 26040326		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megaloblastic Anemia 1	Anemia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megaloblastic anemia due to inborn errors of metabolism	Anemia	ORPHANET_DG	21750092, 26040326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	16466507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonic Aciduria and Homocystinuria CblF Type	Methylmalonic acidemia	Pubtator	15738392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	16050798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16050798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	16466507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	21750092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	24685009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	18344354, 25499606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Cobalamin deficiency	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin B 12 Deficiency	Cobalamin deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

AMN (amnion associated transmembrane protein)