Details for: AMH

Gene ID: 268

Symbol: AMH

Ensembl ID: ENSG00000104899

Description: anti-Mullerian hormone

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 3.49
    Marker Score: 20679
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 797
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71833
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48058
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 509
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 462
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5339
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1264
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 697
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.75
    Marker Score: 3154
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.75
    Marker Score: 809
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.74
    Marker Score: 297
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.6
    Marker Score: 173
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.56
    Marker Score: 359.5
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 448
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.55
    Marker Score: 2265
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.51
    Marker Score: 162
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.48
    Marker Score: 18205
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.45
    Marker Score: 1728
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.45
    Marker Score: 6665
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.44
    Marker Score: 4123
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.41
    Marker Score: 769
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.4
    Marker Score: 3050
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.39
    Marker Score: 799.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.38
    Marker Score: 7598
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.38
    Marker Score: 648
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.38
    Marker Score: 371
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.37
    Marker Score: 13814
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.37
    Marker Score: 213
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.33
    Marker Score: 669
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.33
    Marker Score: 5132
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.32
    Marker Score: 317
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.31
    Marker Score: 388
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.29
    Marker Score: 1165
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.27
    Marker Score: 160
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.26
    Marker Score: 275
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.26
    Marker Score: 523
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 63
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 73
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.21
    Marker Score: 90
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.21
    Marker Score: 2120
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.21
    Marker Score: 592
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.2
    Marker Score: 245
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.2
    Marker Score: 189.5
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.2
    Marker Score: 222
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.19
    Marker Score: 91
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.19
    Marker Score: 63
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.19
    Marker Score: 180
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.18
    Marker Score: 220
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.17
    Marker Score: 1482
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.17
    Marker Score: 114
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.17
    Marker Score: 176
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.16
    Marker Score: 686
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.16
    Marker Score: 70
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.14
    Marker Score: 85
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.14
    Marker Score: 58
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.14
    Marker Score: 90
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.14
    Marker Score: 37
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.13
    Marker Score: 41
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.12
    Marker Score: 31
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 0.12
    Marker Score: 34
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.12
    Marker Score: 85
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.12
    Marker Score: 85
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.11
    Marker Score: 41
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.11
    Marker Score: 262
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.11
    Marker Score: 6686
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.11
    Marker Score: 24
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.1
    Marker Score: 32
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.1
    Marker Score: 463
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.09
    Marker Score: 41
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.09
    Marker Score: 264
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.09
    Marker Score: 26
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.09
    Marker Score: 36.5
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.09
    Marker Score: 24
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.09
    Marker Score: 36
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.09
    Marker Score: 27
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.09
    Marker Score: 120
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.08
    Marker Score: 40
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.08
    Marker Score: 703
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.08
    Marker Score: 44
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.08
    Marker Score: 124
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.08
    Marker Score: 72
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.08
    Marker Score: 31
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 0.08
    Marker Score: 46
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.07
    Marker Score: 104
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.07
    Marker Score: 17
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.07
    Marker Score: 64
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.07
    Marker Score: 2494
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.07
    Marker Score: 16
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 0.07
    Marker Score: 17
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.07
    Marker Score: 24
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.07
    Marker Score: 18
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.07
    Marker Score: 339

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Other Information

**Key characteristics:** - AMH is a glycoprotein that is expressed in high levels in Sertoli cells of the testes. - It is a key factor in the development of male reproductive structures, including the seminiferous tubules, Leydig cells, and prostate. - Mis expression results in infertility and is associated with Kallmann-Welander syndrome, a genetic disorder that affects male fertility. **Pathways and functions:** - AMH binds to the Type II transforming growth factor beta receptor (TGFB-β), which is a key growth factor for male reproductive cells. - Binding of AMH to TGFB-β activates the receptor, which promotes the expression of genes involved in spermatogenesis and prostate development. - AMH also binds to the BMP receptors, which are another group of growth factors that are involved in male reproductive development. - These BMP receptors also bind to the TGFB-β receptor, which further amplifies the expression of AMH and TGFB-β target genes. **Clinical significance:** - Mutations in the AMH gene are associated with Kallmann-Welander syndrome and other male reproductive disorders. - AMH is a potential therapeutic target for male infertility. - Drugs that block the action of AMH have been shown to be effective in treating Kallmann-Welander syndrome.

Genular Protein ID: 76971339

Symbol: MIS_HUMAN

Name: Muellerian-inhibiting factor

UniProtKB Accession Codes:

P03971 O75246 Q6GTN3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 1 GO 21 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 1 PIR 1 PIRSF 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3754790

Title: Isolation of the bovine and human genes for Mullerian inhibiting substance and expression of the human gene in animal cells.

PubMed ID: 3754790

DOI: 10.1016/0092-8674(86)90783-x

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

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: 2974034

Title: Proteolytic processing of mullerian inhibiting substance produces a transforming growth factor-beta-like fragment.

PubMed ID: 2974034

DOI: 10.1016/s0021-9258(18)37375-7

PubMed ID: 8469238

Title: Mullerian inhibiting substance requires its N-terminal domain for maintenance of biological activity, a novel finding within the transforming growth factor-beta superfamily.

PubMed ID: 8469238

DOI: 10.1210/mend.7.2.8469238

PubMed ID: 11779604

Title: Relationship between serum muellerian-inhibiting substance and other reproductive hormones in untreated women with polycystic ovary syndrome and normal women.

PubMed ID: 11779604

DOI: 10.1016/s0015-0282(01)02944-2

PubMed ID: 14742691

Title: Anti-Muellerian hormone expression pattern in the human ovary: potential implications for initial and cyclic follicle recruitment.

PubMed ID: 14742691

DOI: 10.1093/molehr/gah015

PubMed ID: 20861221

Title: Processing of anti-mullerian hormone regulates receptor activation by a mechanism distinct from TGF-beta.

PubMed ID: 20861221

DOI: 10.1210/me.2010-0273

PubMed ID: 1483695

Title: Variants of the anti-Mullerian hormone gene in a compound heterozygote with the persistent Mullerian duct syndrome and his family.

PubMed ID: 1483695

DOI: 10.1007/bf00220465

PubMed ID: 8162013

Title: Molecular genetics of the persistent Mullerian duct syndrome: a study of 19 families.

PubMed ID: 8162013

DOI: 10.1093/hmg/3.1.125

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: 34155118

Title: Structure of AMH bound to AMHR2 provides insight into a unique signaling pair in the TGF-beta family.

PubMed ID: 34155118

DOI: 10.1073/pnas.2104809118

Sequence Information:

  • Length: 560
  • Mass: 59195
  • Checksum: D05DCEE4FEDF94C2
  • Sequence:
    • MRDLPLTSLA LVLSALGALL GTEALRAEEP AVGTSGLIFR EDLDWPPGSP QEPLCLVALG 
GDSNGSSSPL RVVGALSAYE QAFLGAVQRA RWGPRDLATF GVCNTGDRQA ALPSLRRLGA 
WLRDPGGQRL VVLHLEEVTW EPTPSLRFQE PPPGGAGPPE LALLVLYPGP GPEVTVTRAG 
LPGAQSLCPS RDTRYLVLAV DRPAGAWRGS GLALTLQPRG EDSRLSTARL QALLFGDDHR 
CFTRMTPALL LLPRSEPAPL PAHGQLDTVP FPPPRPSAEL EESPPSADPF LETLTRLVRA 
LRVPPARASA PRLALDPDAL AGFPQGLVNL SDPAALERLL DGEEPLLLLL RPTAATTGDP 
APLHDPTSAP WATALARRVA AELQAAAAEL RSLPGLPPAT APLLARLLAL CPGGPGGLGD 
PLRALLLLKA LQGLRVEWRG RDPRGPGRAQ RSAGATAADG PCALRELSVD LRAERSVLIP 
ETYQANNCQG VCGWPQSDRN PRYGNHVVLL LKMQVRGAAL ARPPCCVPTA YAGKLLISLS 
EERISAHHVP NMVATECGCR

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. For the full schema, download it here.