ENSG00000120925
Homo sapiens | |
Features
| Gene ID: | ENSG00000120925 | | | | | Biological name : | RNF170 | | | | | Synonyms : | Q96K19 / ring finger protein 170 / RNF170 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 8 | | Strand: | -1 | | Band: | p11.21 | | Gene start: | 42849637 | | Gene end: | 42897290 | | | | | Corresponding Affymetrix probe sets: | 1554312_at (Human Genome U133 Plus 2.0 Array) 220985_s_at (Human Genome U133 Plus 2.0 Array) 226104_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000436416
Ensembl peptide - ENSP00000435782
Ensembl peptide - ENSP00000437146
Ensembl peptide - ENSP00000445725
Ensembl peptide - ENSP00000240159
Ensembl peptide - ENSP00000325969
Ensembl peptide - ENSP00000326138
Ensembl peptide - ENSP00000434797
NCBI entrez gene - 81790
See in Manteia.
OMIM - 614649
RefSeq - XM_017013882
RefSeq - NM_001160224
RefSeq - NM_001160225
RefSeq - NM_030954
RefSeq - XM_006716404
RefSeq - XM_006716405
RefSeq - XM_011544666
RefSeq - XM_017013881
RefSeq - NM_001160223
RefSeq Peptide - NP_112216
RefSeq Peptide - NP_001153695
RefSeq Peptide - NP_001153696
RefSeq Peptide - NP_001153697
swissprot - Q96K19
swissprot - E9PP55
swissprot - E9PNG8
Ensembl - ENSG00000120925
| | | | | Related genetic diseases (OMIM): | 608984 - Ataxia, sensory, 1, autosomal dominant, 608984 |
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)
Gene Ontology (GO)
Pathways (from Reactome)
No match
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:0001265 | Hyporeflexia | |
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| | HP:0001284 | Areflexia | |
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| | HP:0002403 | Positive Romberg sign | |
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| | HP:0003409 | Distal sensory impairment of all modalities | |
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| | HP:0003487 | Babinski sign | "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators] |
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| | HP:0003581 | Onset in adulthood | |
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| | HP:0006962 | Gait instability, worse in the dark | |
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| | HP:0010871 | Sensory ataxia | "Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms." [HPO:probinson] |
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Interacting proteins (from Reactome)
No match
1 s.
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