Gene Gene information from NCBI Gene database.
Entrez ID 6650
Gene name Calpain 15
Gene symbol CAPN15
Synonyms (NCBI Gene)
OGINSOLH
Chromosome 16
Chromosome location 16p13.3
Summary This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [prov
miRNA miRNA information provided by mirtarbase database.
112
miRTarBase ID miRNA Experiments Reference
MIRT115781 hsa-miR-93-5p PAR-CLIP 23592263
MIRT115779 hsa-miR-20a-5p PAR-CLIP 23592263
MIRT115778 hsa-miR-17-5p PAR-CLIP 23592263
MIRT115786 hsa-miR-20b-5p PAR-CLIP 23592263
MIRT115784 hsa-miR-106b-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0004198 Function Calcium-dependent cysteine-type endopeptidase activity IBA
GO:0004198 Function Calcium-dependent cysteine-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005737 Component Cytoplasm IBA
GO:0006508 Process Proteolysis IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603267 11182 ENSG00000103326
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75808
Protein name Calpain-15 (EC 3.4.22.-) (Small optic lobes homolog)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00641 zf-RanBP 4 32 Zn-finger in Ran binding protein and others Domain
PF00641 zf-RanBP 143 172 Zn-finger in Ran binding protein and others Domain
PF00641 zf-RanBP 412 441 Zn-finger in Ran binding protein and others Domain
PF00648 Peptidase_C2 488 791 Calpain family cysteine protease Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with higher expression in brain. {ECO:0000269|PubMed:9722942}.
Sequence
MATVGEWSCVRCTFLNPAGQRQCSICEAPRHKPDLNHILRLSVEEQKWPCARCTFRNFLG
KEACEVCGFTPEPAPGAAFLPVLNGVLPKPPAILGEPKGSCQEEAGPVRTAGLVATEPAR
GQCEDKDEEEKEEQEEEEGAAEPRGGWACPRCTLHNTPVASSCSVCGGPRRLSLPRIPPE
ALVVPEVVAPAGFHVVPAAPPPGLPGEGAEANPPATSQGPAAEPEPPRVPPFSPFSSTLQ
NNPVPRSRREVPPQLQPPVPEAAQPSPSAGCRGAPQGSGWAGASRLAELLSGKRLSVLEE
EATEGGTSRVEAGSSTSGSDIIDLAGDTVRYTPASPSSPDFTTWSCAKCTLRNPTVAPRC
SACGCSKLHGFQEHGEPPTHCPDCGADKPSPCGRSCGRVSSAQKAARVLPERPGQWACPA
CTLLNALRAKHCAACHTPQLL
VAQRRGAAPLRRRESMHVEQRRQTDEGEAKALWENIVAF
CRENNVSFVDDSFPPGPESVGFPAGDSVQQRVRQWLRPQEINCSVFRDHRATWSVFHTLR
PSDILQGLLGNCWFLSALAVLAERPDLVERVMVTRSLCAEGAYQVRLCKDGTWTTVLVDD
MLPCDEAGCLLFSQAQRKQLWVALIEKALAKLHGSYFALQAGRAIEGLATLTGAPCESLA
LQLSSTNPREEPVDTDLIWAKMLSSKEAGFLMGASCGGGNMKVDDSAYESLGLRPRHAYS
ILDVRDVQGTRLLRLRNPWGRFSWNGSWSDEWPHWPGHLRGELMPHGSSEGVFWMEYGDF
VRYFDSVDICK
VHSDWQEARVQGCFPSSASAPVGVTALTVLERASLEFALFQEGSRRSDA
VDSHLLDLCILVFRATFGSGGHLSLGRLLAHSKRAVKKFVSCDVMLEPGEYAVVCCAFNH
WGPPLPGTPAPQASSPSAGVPRASPEPPGHVLAVYSSRLVMVEPVEAQPTTLADAIILLT
ESRGERHEGREGMTCYYLTHGWAGLIVVVENRHPKAYLHVQCDCTDSFNVVSTRGSLRTQ
DSVPPLHRQVLVILSQLEGNAGFSITHRLAHRKAAQAFLSDWTASKGTHSPPLTPEVAGL
HGPRPL
Sequence length 1086
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Degradation of the extracellular matrix
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Oculogastrointestinal-neurodevelopmental syndrome Pathogenic rs2142085042, rs2142072159, rs762523863, rs2142086271, rs2142084042 RCV001387527
RCV001387528
RCV001387530
RCV001387531
RCV001387533
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAPN15-related disorder Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cataract Cataract BEFREE 9722942
★☆☆☆☆
Found in Text Mining only
Dehydrated Hereditary Stomatocytosis Pseudohyperkalemia and Perinatal Edema Hereditary xerocytosis Pubtator 29221444 Associate
★☆☆☆☆
Found in Text Mining only
Leiomyosarcoma Leiomyosarcoma Pubtator 22419440 Associate
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 31164008
★☆☆☆☆
Found in Text Mining only