Details for: AMHR2

Gene ID: 269

Symbol: AMHR2

Ensembl ID: ENSG00000135409

Description: anti-Mullerian hormone receptor type 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 10.7364
    Cell Significance Index: -1.6700
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 8.3889
    Cell Significance Index: 40.8000
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 6.7420
    Cell Significance Index: 31.1400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 6.7417
    Cell Significance Index: -1.7100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 4.7370
    Cell Significance Index: 126.9300
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 3.8285
    Cell Significance Index: 49.0300
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 3.6361
    Cell Significance Index: 18.1400
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 2.3856
    Cell Significance Index: 34.6400
  • Cell Name: theca cell (CL0000503)
    Fold Change: 1.9353
    Cell Significance Index: 11.3700
  • Cell Name: colon endothelial cell (CL1001572)
    Fold Change: 1.8212
    Cell Significance Index: 1.3900
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.5915
    Cell Significance Index: 19.9900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 1.3545
    Cell Significance Index: -1.6700
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.1999
    Cell Significance Index: 16.8300
  • Cell Name: obsolete somatic cell (CL0002371)
    Fold Change: 1.0668
    Cell Significance Index: 8.0800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.0101
    Cell Significance Index: 26.5600
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.5468
    Cell Significance Index: 13.2500
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.4655
    Cell Significance Index: 6.6700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3096
    Cell Significance Index: 36.0800
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 0.2124
    Cell Significance Index: 0.9400
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.2000
    Cell Significance Index: 1.7300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1774
    Cell Significance Index: 2.5400
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.1172
    Cell Significance Index: 0.8900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1159
    Cell Significance Index: 23.0000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.0727
    Cell Significance Index: 0.5600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0647
    Cell Significance Index: 0.6700
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.0559
    Cell Significance Index: 0.3300
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.0237
    Cell Significance Index: 0.2300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0159
    Cell Significance Index: 2.7200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0107
    Cell Significance Index: 1.9200
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.0046
    Cell Significance Index: 0.0500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0019
    Cell Significance Index: 0.1400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0006
    Cell Significance Index: -1.1300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0010
    Cell Significance Index: -1.8200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0010
    Cell Significance Index: -0.0500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0011
    Cell Significance Index: -1.6800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0016
    Cell Significance Index: -2.1100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0019
    Cell Significance Index: -1.4600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0022
    Cell Significance Index: -1.2600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0023
    Cell Significance Index: -0.1000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0024
    Cell Significance Index: -1.7800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0025
    Cell Significance Index: -1.8200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0026
    Cell Significance Index: -1.6600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0029
    Cell Significance Index: -1.5800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0039
    Cell Significance Index: -1.7600
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0042
    Cell Significance Index: -0.0600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0045
    Cell Significance Index: -0.6200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0046
    Cell Significance Index: -0.9300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0048
    Cell Significance Index: -1.7200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0053
    Cell Significance Index: -0.6100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0060
    Cell Significance Index: -1.7300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0070
    Cell Significance Index: -0.8600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0094
    Cell Significance Index: -1.9800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0107
    Cell Significance Index: -1.5500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0151
    Cell Significance Index: -1.9500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0160
    Cell Significance Index: -1.6700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0161
    Cell Significance Index: -0.8200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0171
    Cell Significance Index: -1.7500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0180
    Cell Significance Index: -0.8400
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0195
    Cell Significance Index: -0.8000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0203
    Cell Significance Index: -1.5600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0229
    Cell Significance Index: -1.8100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0229
    Cell Significance Index: -0.8000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0236
    Cell Significance Index: -1.0700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0252
    Cell Significance Index: -0.7000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0269
    Cell Significance Index: -0.4500
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0278
    Cell Significance Index: -0.3600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0284
    Cell Significance Index: -0.7600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0290
    Cell Significance Index: -1.9500
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: -0.0295
    Cell Significance Index: -0.3300
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0296
    Cell Significance Index: -0.7400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0298
    Cell Significance Index: -0.8600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0298
    Cell Significance Index: -0.8100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0308
    Cell Significance Index: -1.9900
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.0309
    Cell Significance Index: -0.4300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0319
    Cell Significance Index: -0.8200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0330
    Cell Significance Index: -1.8500
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0363
    Cell Significance Index: -0.6100
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0369
    Cell Significance Index: -0.9200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0385
    Cell Significance Index: -2.0200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0388
    Cell Significance Index: -1.8300
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.0410
    Cell Significance Index: -0.5200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0411
    Cell Significance Index: -0.8600
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0413
    Cell Significance Index: -0.5800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0424
    Cell Significance Index: -1.2500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0428
    Cell Significance Index: -1.5000
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.0433
    Cell Significance Index: -0.4900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0445
    Cell Significance Index: -1.9700
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0449
    Cell Significance Index: -0.7700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0473
    Cell Significance Index: -0.7800
  • Cell Name: basophil mast progenitor cell (CL0002028)
    Fold Change: -0.0474
    Cell Significance Index: -0.4000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0483
    Cell Significance Index: -1.5800
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0493
    Cell Significance Index: -0.5400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0496
    Cell Significance Index: -1.5800
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.0499
    Cell Significance Index: -0.7300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0502
    Cell Significance Index: -1.9000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0517
    Cell Significance Index: -1.0100
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0546
    Cell Significance Index: -1.3900
  • Cell Name: colonocyte (CL1000347)
    Fold Change: -0.0550
    Cell Significance Index: -0.3400
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0550
    Cell Significance Index: -1.1200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0561
    Cell Significance Index: -2.0600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Receptor Function:** AMHR2 is a type II receptor for AMH, a protein that binds to its receptor to regulate various cellular processes. 2. **Expression Patterns:** AMHR2 is expressed in supporting cells, granulosa cells, Sertoli cells, and interstitial cells of the ovary, as well as in enterocytes and colon goblet cells. 3. **Signaling Pathways:** AMHR2 is involved in multiple signaling pathways, including the anti-Mullerian hormone signaling pathway, BMP signaling pathway, TGF-β signaling pathway, and others. 4. **Cellular Localization:** AMHR2 is localized to the plasma membrane, where it interacts with its ligand, AMH. **Pathways and Functions:** 1. **Anti-Mullerian Hormone Signaling Pathway:** AMHR2 mediates the anti-Mullerian hormone signaling pathway, which regulates the regression of the Mullerian ducts in males. 2. **BMP Signaling Pathway:** AMHR2 is involved in the BMP signaling pathway, which regulates cell proliferation, differentiation, and survival. 3. **TGF-β Signaling Pathway:** AMHR2 interacts with TGF-β receptors to regulate cell growth, differentiation, and apoptosis. 4. **Cellular Response to Growth Factor Stimulus:** AMHR2 is involved in the cellular response to growth factor stimuli, including AMH, BMPs, and TGF-βs. 5. **Sex Differentiation:** AMHR2 plays a crucial role in sex differentiation, regulating the development of male and female gonads. **Clinical Significance:** 1. **Reproductive Disorders:** Dysregulation of AMHR2 has been implicated in various reproductive disorders, including premature ovarian failure, polycystic ovary syndrome (PCOS), and infertility. 2. **Male Infertility:** AMHR2 has been shown to play a role in male infertility, particularly in cases of azoospermia (absence of sperm). 3. **Cancer:** AMHR2 has been implicated in the development and progression of certain cancers, including ovarian and testicular cancers. 4. **Endocrine Disorders:** AMHR2 has been linked to various endocrine disorders, including thyroid disorders and adrenal gland disorders. In conclusion, AMHR2 is a critical gene that regulates sex differentiation and gonadal development. Its dysregulation has significant implications for reproductive health, and further research is needed to fully understand its role in human disease.

Genular Protein ID: 193977816

Symbol: AMHR2_HUMAN

Name: Anti-Muellerian hormone type-2 receptor

UniProtKB Accession Codes:

Q16671 A0AVE1 B9EGB7 E9PGD2 F8W1D2 Q13762 Q647K2

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChEBI 14 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 3 EMBL 19 Ensembl 3 ExpressionAtlas 1 GO 18 Gene3D 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 1 RefSeq 3 Rhea 6 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 7493017

Title: Insensitivity to anti-Muellerian hormone due to a mutation in the human anti-Muellerian hormone receptor.

PubMed ID: 7493017

DOI: 10.1038/ng1295-382

PubMed ID: 7488027

Title: Structure and chromosomal localization of the human anti-Muellerian hormone type II receptor gene.

PubMed ID: 7488027

DOI: 10.1006/bbrc.1995.2567

PubMed ID: 10589763

Title: Human ovarian cancer, cell lines, and primary ascites cells express the human Muellerian inhibiting substance (MIS) type II receptor, bind, and are responsive to MIS.

PubMed ID: 10589763

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17911401

Title: Activin receptor-like kinase-2 inhibits activin signaling by blocking the binding of activin to its type II receptor.

PubMed ID: 17911401

DOI: 10.1677/joe-07-0281

PubMed ID: 8872466

Title: A 27 base-pair deletion of the anti-Muellerian type II receptor gene is the most common cause of the persistent Muellerian duct syndrome.

PubMed ID: 8872466

DOI: 10.1093/hmg/5.9.1269

PubMed ID: 11549681

Title: Autosomal recessive segregation of a truncating mutation of anti-Muellerian type II receptor in a family affected by the persistent Muellerian duct syndrome contrasts with its dominant negative activity in vitro.

PubMed ID: 11549681

DOI: 10.1210/jcem.86.9.7839

Sequence Information:

  • Length: 573
  • Mass: 62750
  • Checksum: 1347C10C2942FDBA
  • Sequence:
    • MLGSLGLWAL LPTAVEAPPN RRTCVFFEAP GVRGSTKTLG ELLDTGTELP RAIRCLYSRC 
CFGIWNLTQD RAQVEMQGCR DSDEPGCESL HCDPSPRAHP SPGSTLFTCS CGTDFCNANY 
SHLPPPGSPG TPGSQGPQAA PGESIWMALV LLGLFLLLLL LLGSIILALL QRKNYRVRGE 
PVPEPRPDSG RDWSVELQEL PELCFSQVIR EGGHAVVWAG QLQGKLVAIK AFPPRSVAQF 
QAERALYELP GLQHDHIVRF ITASRGGPGR LLSGPLLVLE LHPKGSLCHY LTQYTSDWGS 
SLRMALSLAQ GLAFLHEERW QNGQYKPGIA HRDLSSQNVL IREDGSCAIG DLGLALVLPG 
LTQPPAWTPT QPQGPAAIME AGTQRYMAPE LLDKTLDLQD WGMALRRADI YSLALLLWEI 
LSRCPDLRPD SSPPPFQLAY EAELGNTPTS DELWALAVQE RRRPYIPSTW RCFATDPDGL 
RELLEDCWDA DPEARLTAEC VQQRLAALAH PQESHPFPES CPRGCPPLCP EDCTSIPAPT 
ILPCRPQRSA CHFSVQQGPC SRNPQPACTL SPV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.