Gene table of AMHR2 : anti-Mullerian hormone receptor type 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with AMHR2	OMIM link	Number of associated genes	genes
261550	PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II	OMIM, HUMSAVAR	link to OMIM	2	AMHR2, AMH

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Annotation of the gene AMHR2

Associated genes in ENSEMBL

ENSG00000135409

Associated proteins - SwissProt Accession ID

Q16671

Associated PDB IDs

Cytogenetic Band

12q13.13

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
TGF-beta signaling pathway	hsa04350	6.41
Cytokine-cytokine receptor interaction	hsa04060	4.67

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
signaling receptor activity	GO:0038023	2.49
purine ribonucleoside triphosphate binding	GO:0035639	2.22
molecular transducer activity	GO:0060089	2.32
receptor activity	GO:0004872	2.32
signal transducer activity	GO:0004871	2.28
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
G-protein coupled receptor activity	GO:0004930	2.95
receptor signaling protein activity	GO:0005057	4.76
ribonucleoside binding	GO:0032549	2.22
ion binding	GO:0043167	1.36
transmembrane receptor protein serine/threonine kinase activity	GO:0004675	6.91
protein serine/threonine kinase activity	GO:0004674	3.64
transferase activity	GO:0016740	1.95
nucleoside phosphate binding	GO:1901265	1.96
protein kinase activity	GO:0004672	3.27
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
nucleotide binding	GO:0000166	1.96
kinase activity	GO:0016301	2.93
	GO:1990272	9.74
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
hormone binding	GO:0042562	5.53
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
transforming growth factor beta receptor activity, type II	GO:0005026	9.05
transforming growth factor beta-activated receptor activity	GO:0005024	7.44
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
transmembrane signaling receptor activity	GO:0004888	2.57
adenyl ribonucleotide binding	GO:0032559	2.41
transmembrane receptor activity	GO:0099600	2.53
protein binding	GO:0005515	0.46
receptor signaling protein serine/threonine kinase activity	GO:0004702	5.23
purine ribonucleotide binding	GO:0032555	2.2
transmembrane receptor protein kinase activity	GO:0019199	5.32
protein-hormone receptor activity	GO:0016500	7.17
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
binding	GO:0005488	0.18