ENSG00000149260
Homo sapiens | |
Features
| Gene ID: | ENSG00000149260 | | | | | Biological name : | CAPN5 | | | | | Synonyms : | calpain 5 / CAPN5 / O15484 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 11 | | Strand: | 1 | | Band: | q13.5 | | Gene start: | 77066932 | | Gene end: | 77126155 | | | | | Corresponding Affymetrix probe sets: | 205166_at (Human Genome U133 Plus 2.0 Array) 226292_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000409996
Ensembl peptide - ENSP00000467244
Ensembl peptide - ENSP00000435894
Ensembl peptide - ENSP00000432332
Ensembl peptide - ENSP00000278559
NCBI entrez gene - 726
See in Manteia.
OMIM - 602537
RefSeq - XM_017018223
RefSeq - NM_004055
RefSeq - XM_011545225
RefSeq Peptide - NP_004046
swissprot - K7EP62
swissprot - E9PS73
swissprot - O15484
swissprot - E7EV01
swissprot - A0A140VKH4
Ensembl - ENSG00000149260
| | | | | Related genetic diseases (OMIM): | 193235 - Vitreoretinopathy, neovascular inflammatory, 193235 |
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)
| IPR000008 | C2 domain | | IPR000169 | Cysteine peptidase, cysteine active site | | IPR001300 | Peptidase C2, calpain, catalytic domain | | IPR022682 | Peptidase C2, calpain, large subunit, domain III | | IPR022683 | Peptidase C2, calpain, domain III | | IPR022684 | Peptidase C2, calpain family | | IPR033883 | Calpain subdomain III | | IPR033884 | Calpain C2 domain | | IPR035892 | C2 domain superfamily | | IPR036213 | Calpain large subunit, domain III 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:0000512 | Abnormal electroretinogram | "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:curators] |
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| | HP:0000541 | Detached retina | |
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| | HP:0000554 | Uveitis | "Inflammation of one or all portions of the uveal tract." [HPO:curators] |
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| | HP:0000618 | Blindness | |
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| | HP:0007658 | Large hyperpigmented retinal spots | |
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| | HP:0007773 | Vitreoretinal abnormalities | |
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| | HP:0007778 | Neovascularization of peripheral and posterior retina | |
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| | HP:0007902 | Vitreous hemorrhage | |
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| | HP:0030667 | Peripheral retinal neovascularization | "A type of retinal neovascularization that affects the periphery of the retina." [HPO:probinson, PMID:22076700] |
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Interacting proteins (from Reactome)
No match
0 s.
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