ENSG00000129003
Homo sapiens | |
Features
| Gene ID: | ENSG00000129003 | | | | | Biological name : | VPS13C | | | | | Synonyms : | Q709C8 / vacuolar protein sorting 13 homolog C / VPS13C | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 15 | | Strand: | -1 | | Band: | q22.2 | | Gene start: | 61852389 | | Gene end: | 62060473 | | | | | Corresponding Affymetrix probe sets: | 218396_at (Human Genome U133 Plus 2.0 Array) 220517_at (Human Genome U133 Plus 2.0 Array) 232386_at (Human Genome U133 Plus 2.0 Array) 235023_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000493560
Ensembl peptide - ENSP00000249837
Ensembl peptide - ENSP00000261517
Ensembl peptide - ENSP00000379233
Ensembl peptide - ENSP00000496179
Ensembl peptide - ENSP00000379235
NCBI entrez gene - 54832
See in Manteia.
OMIM - 608879
RefSeq - XM_011521714
RefSeq - NM_001018088
RefSeq - NM_017684
RefSeq - NM_018080
RefSeq - NM_020821
RefSeq - XM_011521713
RefSeq Peptide - NP_060550
RefSeq Peptide - NP_065872
RefSeq Peptide - NP_001018098
RefSeq Peptide - NP_060154
swissprot - Q709C8
Ensembl - ENSG00000129003
| | | | | Related genetic diseases (OMIM): | 616840 - Parkinson disease 23, autosomal recessive, early onset, 616840 |
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)
| IPR009543 | Vacuolar protein sorting-associated protein 13, SHR-binding domain | | IPR015412 | Autophagy-related, C-terminal | | IPR026847 | Vacuolar protein sorting-associated protein 13 | | IPR026854 | Vacuolar protein sorting-associated protein 13, N-terminal domain | | IPR031642 | VPS13, repeated coiled region | | IPR031645 | Vacuolar protein sorting-associated protein 13, C-terminal | | IPR031646 | Vacuolar protein sorting-associated protein 13, second N-terminal domain |
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:0000726 | Dementia | |
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| | HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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| | HP:0001268 | Mental deterioration | |
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| | HP:0001300 | Parkinsonism | |
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| | HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| | HP:0002063 | Rigidity | |
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| | HP:0002120 | Cerebral cortical atrophy | |
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| | HP:0002185 | Neurofibrillary tangles | |
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| | HP:0002304 | Akinesia | |
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| | HP:0002322 | Resting tremor | "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse." [HPO:curators] |
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| | HP:0002451 | Limb dystonia | |
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| | HP:0002459 | Dysautonomia | |
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| | HP:0003676 | Progressive disorder | |
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| | HP:0007256 | Mild pyramidal signs | |
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| | HP:0100315 | Lewy bodies | |
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Interacting proteins (from Reactome)
No match
1 s.
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