ENSG00000147202
Homo sapiens | |
Features
Gene ID: | ENSG00000147202 | | | Biological name : | DIAPH2 | | | Synonyms : | DIAPH2 / diaphanous related formin 2 / O60879 | | | Possible biological names infered from orthology : | | | | Species: | Homo sapiens | | | Chr. number: | X | Strand: | 1 | Band: | q21.33 | Gene start: | 96684663 | Gene end: | 97604997 | | | Corresponding Affymetrix probe sets: | 205603_s_at (Human Genome U133 Plus 2.0 Array) 205726_at (Human Genome U133 Plus 2.0 Array) 217246_s_at (Human Genome U133 Plus 2.0 Array) | | | Cross references: | Ensembl peptide - ENSP00000348082 Ensembl peptide - ENSP00000362152 Ensembl peptide - ENSP00000362145 Ensembl peptide - ENSP00000362140 Ensembl peptide - ENSP00000321348 NCBI entrez gene - 1730
See in Manteia.
OMIM - 300108 RefSeq - NM_007309 RefSeq - NM_006729 RefSeq Peptide - NP_006720 RefSeq Peptide - NP_009293 swissprot - O60879 swissprot - A6NML8 swissprot - K4DI95 swissprot - C9J6U3 Ensembl - ENSG00000147202
| | | Related genetic diseases (OMIM): | 300511 - ?Premature ovarian failure 2A, 300511 | 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)
Gene Ontology (GO)
Pathways (from Reactome) No match
Phenotype (from MGI, Zfin or HPO)
HP:0000869 | Secondary amenorrhea | |
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| HP:0001423 | X-linked dominant inheritance | "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] |
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| HP:0008209 | Premature ovarian failure | |
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Interacting proteins (from Reactome)
ENSG00000173156 | RHOD / O00212 / ras homolog family member D | / complex / reaction | ENSG00000070831 | CDC42 / P60953 / cell division cycle 42 | / reaction / complex | ENSG00000147202 | DIAPH2 / O60879 / diaphanous related formin 2 | / complex | ENSG00000197122 | SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase | / complex / reaction |
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