Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 268
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol AMH   Gene   UCSC   Ensembl
Aliases MIF, MIS
Gene name anti-Mullerian hormone
Alternate names muellerian-inhibiting factor, Mullerian inhibiting factor, Mullerian inhibiting substance, anti-Muellerian hormone, muellerian-inhibiting substance,
Gene location 19p13.3 (2249113: 2252072)     Exons: 5     NC_000019.10
Gene summary(Entrez) This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016]
OMIM 600957

Protein Summary
Protein general information P03971  

Name: Muellerian inhibiting factor (Anti Muellerian hormone) (AMH) (Muellerian inhibiting substance) (MIS)

Length: 560  Mass: 59,195

Sequence MRDLPLTSLALVLSALGALLGTEALRAEEPAVGTSGLIFREDLDWPPGSPQEPLCLVALGGDSNGSSSPLRVVGA
LSAYEQAFLGAVQRARWGPRDLATFGVCNTGDRQAALPSLRRLGAWLRDPGGQRLVVLHLEEVTWEPTPSLRFQE
PPPGGAGPPELALLVLYPGPGPEVTVTRAGLPGAQSLCPSRDTRYLVLAVDRPAGAWRGSGLALTLQPRGEDSRL
STARLQALLFGDDHRCFTRMTPALLLLPRSEPAPLPAHGQLDTVPFPPPRPSAELEESPPSADPFLETLTRLVRA
LRVPPARASAPRLALDPDALAGFPQGLVNLSDPAALERLLDGEEPLLLLLRPTAATTGDPAPLHDPTSAPWATAL
ARRVAAELQAAAAELRSLPGLPPATAPLLARLLALCPGGPGGLGDPLRALLLLKALQGLRVEWRGRDPRGPGRAQ
RSAGATAADGPCALRELSVDLRAERSVLIPETYQANNCQGVCGWPQSDRNPRYGNHVVLLLKMQVRGAALARPPC
CVPTAYAGKLLISLSEERISAHHVPNMVATECGCR
Structural information
Interpro:  IPR006799 IPR029034 IPR021203 IPR001839 IPR017948
Prosite:   PS00250 PS51362

Pfam:  		 PF04709 PF00019
STRING:   ENSP00000221496;
Other Databases GeneCards:  AMH;MIR4321;  Malacards:  AMH

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001546 preantral ovarian follicl
e growth
 IEA biological_process
GO:0001655 urogenital system develop
ment
 IBA biological_process
GO:0001880 Mullerian duct regression
 IDA biological_process
GO:0001880 Mullerian duct regression
 NAS biological_process
GO:0005102 receptor binding
 IPI molecular_function
GO:0005160 transforming growth facto
r beta receptor binding
 IEA molecular_function
GO:0005179 hormone activity
 TAS molecular_function
GO:0005576 extracellular region
 NAS cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0007267 cell-cell signaling
 TAS biological_process
GO:0007506 gonadal mesoderm developm
ent
 IEA biological_process
GO:0007530 sex determination
 TAS biological_process
GO:0007548 sex differentiation
 TAS biological_process
GO:0007568 aging
 IEA biological_process
GO:0008083 growth factor activity
 IEA molecular_function
GO:0010628 positive regulation of ge
ne expression
 IMP biological_process
GO:0014070 response to organic cycli
c compound
 IEA biological_process
GO:0042493 response to drug
 IEA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
 IEA biological_process
GO:2000355 negative regulation of ov
arian follicle developmen
t
 IEA biological_process
GO:0001546 preantral ovarian follicl
e growth
 IEA biological_process
GO:0001655 urogenital system develop
ment
 IEA biological_process
GO:0001655 urogenital system develop
ment
 IBA biological_process
GO:0001880 Mullerian duct regression
 IDA biological_process
GO:0001880 Mullerian duct regression
 NAS biological_process
GO:0005102 receptor binding
 IPI molecular_function
GO:0005160 transforming growth facto
r beta receptor binding
 IEA molecular_function
GO:0005179 hormone activity
 TAS molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 NAS cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0005615 extracellular space
 TAS cellular_component
GO:0007267 cell-cell signaling
 TAS biological_process
GO:0007506 gonadal mesoderm developm
ent
 IEA biological_process
GO:0007530 sex determination
 TAS biological_process
GO:0007548 sex differentiation
 TAS biological_process
GO:0007568 aging
 IEA biological_process
GO:0008083 growth factor activity
 IEA molecular_function
GO:0008083 growth factor activity
 IEA molecular_function
GO:0008406 gonad development
 IEA biological_process
GO:0010628 positive regulation of ge
ne expression
 IMP biological_process
GO:0014070 response to organic cycli
c compound
 IEA biological_process
GO:0030154 cell differentiation
 IEA biological_process
GO:0042493 response to drug
 IEA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
 IEA biological_process
GO:2000355 negative regulation of ov
arian follicle developmen
t
 IEA biological_process
GO:0001655 urogenital system develop
ment
 IBA biological_process
GO:0001880 Mullerian duct regression
 IDA biological_process
GO:0001880 Mullerian duct regression
 NAS biological_process
GO:0005102 receptor binding
 IPI molecular_function
GO:0005179 hormone activity
 TAS molecular_function
GO:0005576 extracellular region
 NAS cellular_component
GO:0005615 extracellular space
 TAS cellular_component
GO:0007267 cell-cell signaling
 TAS biological_process
GO:0007530 sex determination
 TAS biological_process
GO:0007548 sex differentiation
 TAS biological_process
GO:0010628 positive regulation of ge
ne expression
 IMP biological_process

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa04390  Hippo signaling pathway
hsa04024  cAMP signaling pathway
hsa04350  TGF-beta signaling pathway

Diseases

Associated diseases References
Abnormal testicular determination PMID: 10022428
Ambiguous genitalia PMID: 10905384
Androgen insensitivity syndrome (AIS) PMID: 7962305
Anovulation PMID: 23321213
Asthenozoospermia PMID: 25269872
Autoimmune thyroid disease (AITD) PMID: 25319839
Azoospermia PMID: 18321497
Cancer PMID: 19064572
Complete androgen insensitivity syndrome (CAIS) PMID: 19539906
Complete mullerian agenesis PMID: 26025811
Congenital adrenal hyperplasia PMID: 22689696
Congenital absence of the uterus and vagina (CAUV) PMID: 11223848
Cryptorchidism PMID: 12574214
Cystic fibrosis PMID: 25280785
Diminished ovarian reserve (DOR) PMID: 24938362
Disorders of sexual development (DSD) PMID: 22423510
Disorders of spermatogenesis PMID: 17462637
Dysmenorrhea PMID: 25226856
Endometriosis PMID: 22384446
Endometriosis PMID: 22761458
Functional androgenization (FA) PMID: 21602314
Haematospermia PMID: 21054481
Hyperandrogenism PMID: 24768424
Hypogonadotropic hypogonadism PMID: 26266675
Hypospadias PMID: 12352359
Klinefelter syndrome PMID: 21251056
Late onset congenital adrenal hyperplasia (LOCAH) PMID: 24792539
Male infertility PMID: 8205615
Mayer-Rokitansky-Kuster-Hauser syndrome PMID: 15550498
Miscarriage PMID: 25796318
Monorchidism PMID: 26671976
Non-obstructive azoospermia (NOA) PMID: 20923279
Noonan syndrome KEGG: H00523
Oligomenorrhea PMID: 25666342
Ovarian dysfunction PMID: 26579638
Ovarian hyperstimulation syndrome (OHSS) PMID: 17071823
Persistent mullerian duct syndrome PMID: 14745940
Persistent mullerian duct syndrome PMID: 8872466
Persistent mullerian duct syndrome PMID: 25026127
Polycystic ovary syndrome (PCOS) PMID: 26177495, PMID: 19539910
Poor ovarian response (POR) PMID: 24576292
Preeclampsia PMID: 26105932
Pregnancy loss PMID: 25038595
Premature ovarian failure ( POF) PMID: 26113766
Primary ovarian insufficiency (POI) PMID: 24912417
Reduced sperm concentration PMID: 18423454
Secondary amenorrhea PMID: 16616745
Secondary oligoamenorrhea PMID: 21737073
Sertoli cell-only syndrome (SCOS) PMID: 24098470
Spermatogenetic defects PMID: 21486417
Testicular function PMID: 17020655
Tubal factor infertility PMID: 24032634
Endometriosis INFBASE24613539
Female infertility INFBASE22384446
Female infertility INFBASE17624337
Polycystic ovary syndrome (PCOS) INFBASE9130910
Unexplained infertility PMID: 19539910
Unilateral cryptorchidism PMID: 22246809
Unilateral orchiopexy PMID: 23329751
uterine leiomyomas PMID: 24620523
Varicocele PMID: 21285453

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22384446 Endometrio
sis
43 (16 with end
ometriosis with
out surgical hi
story, 27 with
endometriosis w
ith surgical hi
story)
 Female infertility AMH
FSH
 Show abstract
19903049 Endometrio
sis
909 patients un
dergoing in vit
ro fertilisatio
n/intracytoplas
mic sperm injec
tion (153 of th
ese patients wi
th endometriosi
s, 306 patients
undergoing IVF
/ICSI treatment
because of a m
ale factor (con
trol group))

Show abstract
19401003 Endometrio
sis
72 (34 with end
ometriosis, 38
without endomet
riosis)
 AMH
FSH
TNF
GM-CSF
VEGF
 Show abstract
24613539 Endometrio
sis
 Brazil
 100 (55 patient
s with endometr
iosis, 45 healt
hy women)
 AMH
AMHRII
 Show abstract
17624337 Endometrio
sis

Female infertility
Show abstract
24210790 Endometrio
sis
 Caucasi
an
 195 (130 fertil
e patients (gro
up A), 65 patie
nts with stage
III and IV endo
metriosis)
Show abstract
9130910 Endometrio
sis
66 (20 with tub
al factor infer
tility, 17 with
polycystic ova
ry syndrome (PC
OS), 29 with en
dometriosis)
Show abstract