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AMH Gene

protein-coding   GIFtS: 60

GC19P002200
anti-Mullerian hormone
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
MIF 2, 3, 5
MIS 1, 2, 3
Descriptions
Anti-Muellerian hormone 3
Muellerian-inhibiting substance 3
Mullerian inhibiting factor 2
Mullerian inhibiting substance 2
anti-Mullerian hormone 2
External Ids
HGNC: 4641
Entrez Gene: 2682
UniProtKB: P039713
Ensembl: ENSG000001048997
Search outside databases for aliases for AMH gene

Previous GC identifers: GC19P002311 GC19P002188

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for AMH:
Anti-Mullerian hormone is a member of the transforming growth factor-beta gene family which
mediates male sexual differentiation. Anti-Mullerian hormone causes the regression of Mullerian
ducts which would otherwise differentiate into the uterus and fallopian tubes. Some mutations in
the anti-Mullerian hormone result in persistent Mullerian duct syndrome. [provided by RefSeq]

UniProtKB/Swiss-Prot: MIS_HUMAN, P03971
Function: This glycoprotein, produced by the Sertoli cells of the testis, causes regression of the
Muellerian duct. It is also able to inhibit the growth of tumors derived from tissues of
Muellerian duct origin

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the AMH gene  

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

AMH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P002200:     (about GC identifiers)

Start:
2,200,113 bp from pter
End:
2,203,072 bp from pter
Size:
2,960 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000019.8  NT_011255.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: MIS_HUMAN, P03971 (See protein sequence)
Recommended Name: Muellerian-inhibiting factor precursor  
Size: 560 amino acids; 59221 Da
Subunit: Homodimer; disulfide-linked
Subcellular location: Secreted
Miscellaneous: Although it does not compete with EGF for receptor binding sites, MIS can inhibit
the autophosphorylation of the EGF receptor in vitro
Secondary accessions: O75246

REFSEQ proteins: NP_000470.2  

ENSEMBL proteins: 
ENSP00000221496 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
R&D Systems Recombinant & Natural Proteins for AMH (MIS/AMH)
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (AMH )
Browse Abnova for Human Recombinant Proteins
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005576 extracellular region NAS14750901
GO:0005615 extracellular space TAS3754790
GO:0005737 cytoplasm IEA--
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Antibodies for AMH: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
R&D Systems Antibodies for AMH (MIS/AMH)
Antibodies from Abcam (AMH ), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for AMH

Assays for AMH: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro domains/families:
 IPR006799 AMH_N
 IPR001839 TGFb
 IPR017948 TGFb_CS


   GeneDecks  AMH for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry P03971

ProtoNet protein and cluster: P03971

3 Blocks protein families:
IPB001839 Transforming growth factor beta (TGFb)
IPB002400 Growth factor cystine knot superfamily signature
IPB006799 Anti-Mullerian hormone


UniProtKB/Swiss-Prot: MIS_HUMAN, P03971
Similarity: Belongs to the TGF-beta family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (AMH)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000479

              Applied Biosystems Silencer® siRNAs for AMH

              Sigma-Aldrich siRNA and siRNA Panels for AMH  
                     Sigma-Aldrich shRNA for AMH  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000479
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000479
                                 untagged cDNA clone in CMV expression vector: NM_000479 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_000479

UniProtKB/Swiss-Prot: MIS_HUMAN, P03971
Function: This glycoprotein, produced by the Sertoli cells of the testis, causes regression of the
Muellerian duct. It is also able to inhibit the growth of tumors derived from tissues of
Muellerian duct origin

Genatlas biochemistry entry for AMH:
anti-Mullerian hormone (TGFB superfamily),140kDa,expressed in the Sertoli cells of the fetal and
neonatal testis,preventing the development of the uterus and fallopian tubes in male

5 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Amh):

endocrine/exocrine glandhomeostasis/metabolismno phenotypic analysisreproductive systemtumorigenesis

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005160 transforming growth factor beta receptor binding IEA--
GO:0005179 hormone activity TAS3754790
GO:0008083 growth factor activity IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Invitrogen iPath™ Online BioAtlas - Pathway for AMH (Maps provided by GeneGo):
 Assembly of RNA Polymerase II preinitiation complex on TATA-less promoters

   GeneDecks  AMH for the pathways selected above  
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for  AMH  (Your Favorite Gene powered by Ingenuity) 
 TGF-&beta

   GeneDecks  AMH for the pathways selected above  
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2 Kegg Pathways  (Kegg details for AMH):
 hsa04060 Cytokine-cytokine receptor interaction
 hsa04350 TGF-beta signaling pathway

   GeneDecks  AMH for the pathways selected above  
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 Gene Network CentralTM Interacting Genes and Proteins Network for  AMH 


5/47 Interacting proteins for AMH (ENSP000002214963) via UniProtKB, MINT, and/or STRING (see all 47 )
InteractantInteraction Details
GeneCardExternal ID(s)
AMHR2ENSP000002578633STRING (score=.996)
NR5A1ENSP000003626903STRING (score=.992)
ACVR1ENSP000002636403STRING (score=.991)
SOX9ENSP000002454793STRING (score=.989)
NR0B1ENSP000003682533STRING (score=.984)
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5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0001655 urogenital system development IEA--
GO:0001880 Mullerian duct regression NAS14750901
GO:0007267 cell-cell signaling TAS3754790
GO:0007506 gonadal mesoderm development IEA--
GO:0007530 sex determination TAS3754790
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for AMH
3 Novoseek chemical compound relationships for AMH gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
progesterone 17.47 2 12571169 (1), 18830622 (1)
zinc 9.43 2 11518812 (1), 10741423 (1)
estradiol 7.34 1 12571169 (1)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (AMH)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000479

              Sigma-Aldrich siRNA and siRNA Panels for AMH  
                     Sigma-Aldrich shRNA for AMH  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_000479  

REFSEQ mRNAs for AMH gene: 

NM_000479.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_000479  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000479
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000479
                                 untagged cDNA clone in CMV expression vector: NM_000479 

Additional cDNA sequence: 

BC033218.1 BC049194.1 

5 DOTS entries:

DT.40307359  DT.95266731  DT.121414485  DT.97837972  DT.403963 

24/337 AceView cDNA sequences (see all 337 ):

BI253981 AI985837 CA394998 BI769959 BM927190 AA588895 CR618008 CA398124 
BQ215965 BM454230 AI702367 BM855704 CR593881 CR600654 CR591027 BQ720593 
BQ898149 BQ220299 BI909634 CA388888 BQ428045 CR619009 AW732696 BQ437394 

highest scoring ESTs for AMH:

AA316792 AI085509 AI589611 AI811492 AW589622 AW950143 AW950180 BC049194 BG912023 BI819038 

Unigene Cluster for AMH:

Anti-Mullerian hormone
Hs.112432  [show with all ESTs]
Unigene Representative Sequence: NM_000479


GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for AMH

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5
SP1:                                                
SP2:        -     -                                 
SP3:                                                

About this scheme

ECgene alternative splicing isoforms for AMH

1 Ensembl transcript including schematic representation:
ENST00000221496  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

AMH expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for AMH

1 / 2 / 3

3 probe-sets matching AMH gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

35084_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AC005263 0.20 1.00 0.72 1

206516_at2, 3 U133-A 1 0.91 1.00 -- -- NM_000479 0.60 1.00 0.82 1

206516_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GTGGCCACCG

SOURCE GeneReport for Unigene cluster: Hs.112432

Expression variation in blood from EXPOLDB for AMH

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for AMH gene from 5/6 species (see all 6 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
chimpanzee
(Pan troglodytes)
AMH1   -- anti-Mullerian hormone 95.89(n)
95.21(a)
750077  XM_001172985.1  XP_001172985.1 
cow
(Bos taurus)
AMH1   -- anti-Mullerian hormone 80.04(n)
77.7(a)
280718  NM_173890.1  NP_776315.1 
rat
(Rattus norvegicus)
Amh1   -- anti-Mullerian hormone 74.7(n)
73.91(a)
25378  NM_012902.1  NP_037034.1 
mouse
(Mus musculus)
Amh1, 5 10 (43.00 cM)5
anti-Mullerian hormone1, 5 75.59(n)1
73.95(a)1
117051  NM_007445.21  NP_031471.21 
 AY9115055  BC1501545  (see all 10)
chicken
(Gallus gallus)
AMH1   -- anti-Mullerian hormone 55.93(n)
45.13(a)
395887  NM_205030.1  NP_990361.1 
About this table        Species with no ortholog for AMH

ENSEMBL Gene Tree for AMH
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

  --
(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/11 NCBI SNPs in AMH are shown (see all 11 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 30)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 19 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs104070221,2
A,C,F,H2200477(+) AGGCAT/GCCCAC 1 I/S mis1 ese34Minor allele frequency- G:0.34EU EA WA 416
--
rs72527891,2
A,C2202512(+) CCAGGA/TGGCCC 1 G/G syn1 ese30--------
rs81125241,2
A,C2201528(+) GCATGA/GATTTG 1 -- int10--------
rs617365781,2
--2200384(+) GGGGGC/TTCTGC 1 A/V mis10--------
rs617365711,2
--2200460(+) GACTTA/GGACTG 1 L/L syn10--------
--
rs178545731,2
--2201469(+) CTGCCA/GGGTGC 1 P/P syn1 ese30--------
rs617365721,2
--2200583(+) TTCCTA/GGGGGC 1 L/L syn10--------
--
rs617365751,2
--2200634(+) TTCGGA/GGTCTG 1 G/G syn10--------
--
rs723444251,2
--2201000(+) GAAGA-/CGACGCAG
GGCTCGGGGC
CAGTG
1 -- int10--------
--
rs739199251,2
--2200886(+) GGGTCC/TGTGGC 1 -- int10--------
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HapMap Linkage Disequilibrium images for AMH (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 600957   disorders: 261550  

UniProtKB/Swiss-Prot: MIS_HUMAN, P03971

  • Defects in AMH are the cause of persistent Muellerian duct syndrome type 1 (PMDS-1)
    [MIM:261550]. PMDS-1 is a form of male pseudohermaphroditism characterized by a failure of
    Muellerian duct regression in otherwise normal males
  • 10/13 Novoseek disease relationships for AMH gene (see all 13 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudohermaphroditism male 71.57 4 11419169 (1), 8468660 (1), 1593700 (1)
    pseudohermaphroditism female 70.93 1 10022428 (1)
    granulosa cell tumor 58.93 3 11070112 (1), 16159935 (1), 8468660 (1)
    cryptorchidism 49.40 1 8468660 (1)
    oligozoospermia 40.55 1 10374110 (1)
    azoospermia 40.15 1 10374110 (1)
    polycystic ovary syndrome 39.46 3 17489169 (1), 17299061 (1), 18854405 (1)
    puberty precocious 36.89 2 8810722 (1)
    aplasia 29.37 1 10523039 (1)
    infertility 12.40 1 18510094 (1)
    About this table

    Genatlas disease: AMH
    persistent Mullerian duct syndrome

    Human Gene Mutation Database: AMH
    Genetic Association Database: AMH
    Human Genome Epidemiology Navigator: AMH (11 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/156 PubMed articles for AMH gene (see all 156 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 268 HGNC: 464 AceView: AMHandSF3A2 Ensembl:ENSG00000104899 euGenes: HUgn268
    ECgene: AMH H-InvDB: AMH
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for AMH Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Anti-m%C3%BCllerian_hormone
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for AMH:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
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     Predesigned and custom siRNAs for AMH Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for AMH Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Search Novus for antibodies for AMH

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