ENSG00000175745
Homo sapiens | |
Features
| Gene ID: | ENSG00000175745 | | | | | Biological name : | NR2F1 | | | | | Synonyms : | NR2F1 / nuclear receptor subfamily 2 group F member 1 / P10589 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 5 | | Strand: | 1 | | Band: | q15 | | Gene start: | 93583224 | | Gene end: | 93594615 | | | | | Corresponding Affymetrix probe sets: | 209505_at (Human Genome U133 Plus 2.0 Array) 209506_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000495740
Ensembl peptide - ENSP00000325819
Ensembl peptide - ENSP00000481517
Ensembl peptide - ENSP00000495420
NCBI entrez gene - 7025
See in Manteia.
OMIM - 132890
RefSeq - NM_005654
RefSeq Peptide - NP_005645
swissprot - F1DAL7
swissprot - F1DAL9
swissprot - P10589
Ensembl - ENSG00000175745
| | | | | Related genetic diseases (OMIM): | 615722 - Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 |
This gene has been taged as a transcription factor by TFT
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)
| IPR000536 | Nuclear hormone receptor, ligand-binding domain | | IPR001628 | Zinc finger, nuclear hormone receptor-type | | IPR001723 | Nuclear hormone receptor | | IPR003068 | Transcription factor COUP | | IPR013088 | Zinc finger, NHR/GATA-type | | IPR035500 | Nuclear hormone receptor-like domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| | HP:0000505 | Impaired vision | |
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| | HP:0000543 | Pale optic disks | |
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| | HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| | HP:0000648 | Optic atrophy | |
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| | HP:0001123 | Visual field defects | |
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| | HP:0001182 | Tapered fingers | |
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| | HP:0001249 | Mental retardation | |
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| | HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| | HP:0007663 | Decreased central vision | |
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Interacting proteins (from Reactome)
No match
0 s.
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