ENSG00000165694
Homo sapiens | |
Features
| Gene ID: | ENSG00000165694 | | | | | Biological name : | FRMD7 | | | | | Synonyms : | FERM domain containing 7 / FRMD7 / Q6ZUT3 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | X | | Strand: | -1 | | Band: | q26.2 | | Gene start: | 132076993 | | Gene end: | 132128020 | | | | | Corresponding Affymetrix probe sets: | 233047_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000298542
Ensembl peptide - ENSP00000359916
Ensembl peptide - ENSP00000417996
NCBI entrez gene - 90167
See in Manteia.
OMIM - 300628
RefSeq - XM_017029949
RefSeq - NM_001306193
RefSeq - NM_194277
RefSeq - XM_017029947
RefSeq - XM_017029948
RefSeq Peptide - NP_001293122
RefSeq Peptide - NP_919253
swissprot - X6R7S7
swissprot - Q6ZUT3
Ensembl - ENSG00000165694
| | | | | Related genetic diseases (OMIM): | 310700 - Nystagmus 1, congenital, X-linked, 310700 |
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:0000666 | Nystagmus, horizontal | |
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| | HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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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:0001425 | Heterogeneous | |
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| | HP:0003593 | Early onset | |
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| | HP:0006934 | Congenital nystagmus | "Nystagmus dating from or present at birth." [HPO:curators] |
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| | HP:0007663 | Decreased central vision | |
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| | HP:0012043 | Pendular nystagmus | "Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction." [HPO:probinson] |
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Interacting proteins (from Reactome)
No match
0 s.
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