ENSG00000135409
Homo sapiens | |
Features
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR000333 | Ser/Thr protein kinase, TGFB receptor | | IPR000472 | Activin types I and II receptor domain | | IPR000719 | Protein kinase domain | | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain | | IPR011009 | Protein kinase-like domain superfamily | | IPR015771 | Anti-muellerian hormone receptor, type II |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000022 | Abnormality of male internal genitalia | |
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| | HP:0000023 | Inguinal hernia | |
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| | HP:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| | HP:0000037 | Male pseudohermaphroditism | "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [HPO:curators] |
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| | HP:0003117 | Abnormal endocrinological laboratory findings | |
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| | HP:0003251 | Male infertility | |
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| | HP:0008689 | Bilateral cryptorchidism | |
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Interacting proteins (from Reactome)
| ENSG00000104899 | AMH / P03971 / anti-Mullerian hormone | / reaction / complex | | ENSG00000135409 | AMHR2 / Q16671 / anti-Mullerian hormone receptor type 2 | / complex |
0 s.
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