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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	269
Gene name	Anti-Mullerian hormone receptor type 2
Gene symbol	AMHR2
Synonyms (NCBI Gene)	AMHRMISR2MISRIIMRII
Chromosome	12
Chromosome location	12q13.13
Summary	This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promot

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137853104	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs374247138	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, synonymous variant, intron variant, coding sequence variant
rs374601719	G>A,C	Likely-pathogenic	Non coding transcript variant, missense variant, stop gained, intron variant, coding sequence variant
rs781745214	C>T	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017356	hsa-miR-335-5p	Microarray	18185580

Show/Hide all (1)

Transcription factor	Regulation	Reference
APC	Repression	12724325

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001880	Process	Mullerian duct regression	NAS	14750901
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	IEA
GO:0005024	Function	Transforming growth factor beta receptor activity	IBA
GO:0005024	Function	Transforming growth factor beta receptor activity	IEA
GO:0005026	Function	Transforming growth factor beta receptor activity, type II	IDA	10854429
GO:0005026	Function	Transforming growth factor beta receptor activity, type II	IEA
GO:0005515	Function	Protein binding	IPI	10854429, 11549681, 20861221, 22939624, 25036637, 32296183, 33961781, 34155118
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11549681
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007548	Process	Sex differentiation	IEA
GO:0007548	Process	Sex differentiation	ISS
GO:0007548	Process	Sex differentiation	TAS	12834017
GO:0008584	Process	Male gonad development	IEA
GO:0008585	Process	Female gonad development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030509	Process	BMP signaling pathway	IBA
GO:0042562	Function	Hormone binding	IPI	14750901
GO:0042803	Function	Protein homodimerization activity	IDA	11549681
GO:0043235	Component	Receptor complex	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IBA
GO:1990262	Process	Anti-Mullerian hormone receptor signaling pathway	IDA	12368913, 24312319
GO:1990262	Process	Anti-Mullerian hormone receptor signaling pathway	IDA	10854429
GO:1990262	Process	Anti-Mullerian hormone receptor signaling pathway	IMP	7493017
GO:1990272	Function	Anti-Mullerian hormone receptor activity	IDA	10854429
GO:1990272	Function	Anti-Mullerian hormone receptor activity	IMP	7493017

MIM	HGNC	e!Ensembl
600956	465	ENSG00000135409

Q16671

Protein name

Anti-Muellerian hormone type-2 receptor (EC 2.7.11.30) (Anti-Muellerian hormone type II receptor) (AMH type II receptor) (MIS type II receptor) (MISRII) (MRII)

Protein function

On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD trans

PDB

7L0J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01064	Activin_recp	46 → 120	Activin types I and II receptor domain	Domain
PF00069	Pkinase	205 → 505	Protein kinase domain	Domain

Sequence

MLGSLGLWALLPTAVEAPPNRRTCVFFEAPGVRGSTKTLGELLDTGTELPRAIRCLYSRC
CFGIWNLTQDRAQVEMQGCRDSDEPGCESLHCDPSPRAHPSPGSTLFTCSCGTDFCNANY
SHLPPPGSPGTPGSQGPQAAPGESIWMALVLLGLFLLLLLLLGSIILALLQRKNYRVRGE
PVPEPRPDSGRDWSVELQELPELCFSQVIREGGHAVVWAGQLQGKLVAIKAFPPRSVAQF
QAERALYELPGLQHDHIVRFITASRGGPGRLLSGPLLVLELHPKGSLCHYLTQYTSDWGS
SLRMALSLAQGLAFLHEERWQNGQYKPGIAHRDLSSQNVLIREDGSCAIGDLGLALVLPG
LTQPPAWTPTQPQGPAAIMEAGTQRYMAPELLDKTLDLQDWGMALRRADIYSLALLLWEI
LSRCPDLRPDSSPPPFQLAYEAELGNTPTSDELWALAVQERRRPYIPSTWRCFATDPDGL
RELLEDCWDADPEARLTAECVQQRLAALAHPQESHPFPESCPRGCPPLCPEDCTSIPAPT
ILPCRPQRSACHFSVQQGPCSRNPQPACTLSPV

Sequence length

573

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction Hormone signaling TGF-beta signaling pathway		Signaling by BMP

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AMHR2-related disorder	Likely pathogenic; Pathogenic	rs374247138	RCV003418097
Differences in sex development	Pathogenic	rs764761319	RCV005865173
Genetic non-acquired premature ovarian failure	Pathogenic; Likely pathogenic	rs746905091, rs1182853719, rs756301317, rs2136943263	RCV001661764 RCV001661765 RCV001663377 RCV001663379
Male pseudohermaphroditism	Pathogenic	rs781745214	RCV000850306
Persistent Mullerian duct syndrome	Likely pathogenic; Pathogenic	rs2136938115, rs1252019616, rs746905091, rs755196112, rs376565347, rs2498922382, rs764761319, rs772294564, rs767904039, rs781745214	RCV001449739 RCV003446811 RCV005232643 RCV005006079 RCV002283638 RCV002286517 RCV002286396 RCV003331639 RCV005407227 RCV001785743
Persistent mullerian duct syndrome, type II	Pathogenic; Likely pathogenic	rs763798144, rs764761319, rs1939497801, rs137853104	RCV000009158 RCV000009159 RCV000009160 RCV000009161

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Likely benign	rs143500484	RCV005934682
Gastric cancer	Benign	rs3741664	RCV005920173
Hepatocellular carcinoma	Benign	rs3741664	RCV005920172
Lung cancer	Benign	rs3741664	RCV005920174
Premature ovarian insufficiency	Uncertain significance	rs747203537	RCV000766172
Uterine carcinosarcoma	Benign	rs11170555	RCV005919642

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Injuries	Associate	31184456
Androgen Insensitivity Syndrome	Associate	20971460
Anxiety	Associate	31121870
Azoospermia	Associate	34480531
Breast Neoplasms	Associate	29851788
Carcinoma Ovarian Epithelial	Associate	26917267
Cardiovascular Diseases	Associate	31121870
Cryptorchidism	Associate	31184456, 35052499
Disorders of Sex Development	Associate	35432193
Endometrial Neoplasms	Associate	25760378
Hypogonadism	Associate	37372384
Infertility	Associate	25790842
Mullerian aplasia	Associate	29687786, 34810374
Neoplasms	Associate	29851788
Nonseminomatous germ cell tumor	Associate	31184456, 32026338
Ovarian Hyperstimulation Syndrome	Associate	25790842
Ovarian Neoplasms	Associate	17676323, 29851788
Persistent Mullerian duct syndrome	Associate	28094762, 29687786, 31184456, 34480531, 34810374, 35052499, 35655435
Polycystic Ovary Syndrome	Associate	23969185, 30786001, 31089932, 33682741
Polycystic Ovary Syndrome	Stimulate	30477916
Psychological Distress	Associate	31121870
Testicular Diseases	Associate	28094762
Uterine Cervical Dysplasia	Associate	22344630
Uterine Cervical Neoplasms	Associate	21573503, 22344630, 29851788
Uterine Cervicitis	Associate	29851788

AMHR2 (anti-Mullerian hormone receptor type 2)