Gene Gene information from NCBI Gene database.
Entrez ID 726
Gene name Calpain 5
Gene symbol CAPN5
Synonyms (NCBI Gene)
ADNIVHTRA3VRNInCL-3
Chromosome 11
Chromosome location 11q13.5
Summary Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subuni
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs397514601 G>A,T Pathogenic Missense variant, coding sequence variant
rs397514602 T>C Pathogenic Missense variant, coding sequence variant
rs886041303 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
131
miRTarBase ID miRNA Experiments Reference
MIRT437674 hsa-miR-214-3p MicroarrayqRT-PCR 22815788
MIRT518617 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT518616 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT518615 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT518617 hsa-miR-5011-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
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:0004198 Function Calcium-dependent cysteine-type endopeptidase activity TAS 9339374
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602537 1482 ENSG00000149260
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15484
Protein name Calpain-5 (EC 3.4.22.-) (Calpain htra-3) (New calpain 3) (nCL-3)
Protein function Calcium-regulated non-lysosomal thiol-protease.
PDB 6P3Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00648 Peptidase_C2 27 341 Calpain family cysteine protease Family
PF01067 Calpain_III 361 488 Calpain large subunit, domain III Domain
PF00168 C2 518 613 C2 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues. Strong expression in the photoreceptor cells of the retina, with a punctate pattern of labeling over the nuclei and inner segments with less expression along the other segments and outer plexiform layer. {ECO
Sequence
Sequence length 640
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.).
25
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
Autosomal dominant neovascular inflammatory vitreoretinopathy Pathogenic rs397514601 RCV001535499
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CAPN5-related disorder Pathogenic rs886041303 RCV004757186
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proliferative vitreoretinopathy Pathogenic rs886041303, rs397514601, rs397514602, rs1950456995 RCV000626481
RCV000033027
RCV000033028
RCV001078182
★★★★☆
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
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAPN5-RELATED VITREORETINOPATHY ClinGen, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign; Uncertain significance 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
Age related macular degeneration Age-related macular degeneration BEFREE 31110225
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 23055945 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal dominant neovascular inflammatory vitreoretinopathy Neovascular Inflammatory Vitreoretinopathy Orphanet
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blindness Blindness Pubtator 25216694, 29040051 Associate
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Inherited Blood coagulation disorder Pubtator 23055945 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 17227582
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases LHGDN 17227582
★☆☆☆☆
Found in Text Mining only
Cataract Cataract Pubtator 25856303 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 29472286 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 17227582, 24280871 Associate
★☆☆☆☆
Found in Text Mining only