ENSG00000130347
Homo sapiens | |
Features
| Gene ID: | ENSG00000130347 | | | | | Biological name : | RTN4IP1 | | | | | Synonyms : | Q8WWV3 / reticulon 4 interacting protein 1 / RTN4IP1 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 6 | | Strand: | -1 | | Band: | q21 | | Gene start: | 106571971 | | Gene end: | 106629487 | | | | | Corresponding Affymetrix probe sets: | 1555679_a_at (Human Genome U133 Plus 2.0 Array) 224509_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000358059
Ensembl peptide - ENSP00000444261
NCBI entrez gene - 84816
See in Manteia.
OMIM - 610502
RefSeq - XM_017011376
RefSeq - NM_001318746
RefSeq - NM_032730
RefSeq - XM_011536192
RefSeq - XM_017011375
RefSeq Peptide - NP_001305675
RefSeq Peptide - NP_116119
swissprot - Q8WWV3
swissprot - G3V1R2
Ensembl - ENSG00000130347
| | | | | Related genetic diseases (OMIM): | 616732 - Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 |
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)
No match
Protein motifs (from Interpro)
| IPR002364 | Quinone oxidoreductase/zeta-crystallin, conserved site | | IPR011032 | GroES-like superfamily | | IPR013154 | Alcohol dehydrogenase, N-terminal | | IPR020843 | Polyketide synthase, enoylreductase domain | | IPR036291 | NAD(P)-binding domain superfamily | | IPR037397 | Reticulon-4-interacting protein 1 |
Gene Ontology (GO)
Pathways (from Reactome)
No match
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:0000543 | Pale optic disks | |
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| | HP:0000603 | Central scotoma | |
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| | HP:0000613 | Photophobia | "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators] |
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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:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| | HP:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
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| | HP:0007663 | Decreased central vision | |
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Interacting proteins (from Reactome)
No match
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