Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (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

131

Show/Hide all (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
MIRT518616	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT518615	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT518617	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT518616	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT518615	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT518617	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT518616	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT518615	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT518617	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT518616	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT518615	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT518617	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT518616	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT518615	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT518617	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT518616	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT518615	hsa-miR-1277-5p	PAR-CLIP	23446348
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
MIRT518616	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT518615	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT518617	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT518616	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT518615	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT518617	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT518616	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT518615	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT518617	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT518616	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT518615	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT518617	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT518616	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT518615	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT518617	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT518616	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT518615	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT861968	hsa-miR-1237	CLIP-seq
MIRT861969	hsa-miR-1254	CLIP-seq
MIRT861970	hsa-miR-1324	CLIP-seq
MIRT861971	hsa-miR-133a	CLIP-seq
MIRT861972	hsa-miR-133b	CLIP-seq
MIRT861973	hsa-miR-214	CLIP-seq
MIRT861974	hsa-miR-3116	CLIP-seq
MIRT861975	hsa-miR-3120-3p	CLIP-seq
MIRT861976	hsa-miR-3127-3p	CLIP-seq
MIRT861977	hsa-miR-3166	CLIP-seq
MIRT861978	hsa-miR-3190	CLIP-seq
MIRT861979	hsa-miR-346	CLIP-seq
MIRT861980	hsa-miR-3614-5p	CLIP-seq
MIRT861981	hsa-miR-3619-5p	CLIP-seq
MIRT861982	hsa-miR-3650	CLIP-seq
MIRT861983	hsa-miR-3663-5p	CLIP-seq
MIRT861984	hsa-miR-377	CLIP-seq
MIRT861985	hsa-miR-3918	CLIP-seq
MIRT861986	hsa-miR-3974	CLIP-seq
MIRT861987	hsa-miR-4252	CLIP-seq
MIRT861988	hsa-miR-4281	CLIP-seq
MIRT861989	hsa-miR-4496	CLIP-seq
MIRT861990	hsa-miR-4512	CLIP-seq
MIRT861991	hsa-miR-4527	CLIP-seq
MIRT861992	hsa-miR-4688	CLIP-seq
MIRT861993	hsa-miR-4697-3p	CLIP-seq
MIRT861994	hsa-miR-4727-5p	CLIP-seq
MIRT861995	hsa-miR-4769-3p	CLIP-seq
MIRT861996	hsa-miR-486-3p	CLIP-seq
MIRT861997	hsa-miR-617	CLIP-seq
MIRT861998	hsa-miR-661	CLIP-seq
MIRT861999	hsa-miR-761	CLIP-seq
MIRT862000	hsa-miR-873	CLIP-seq
MIRT1546145	hsa-miR-1285	CLIP-seq
MIRT1546146	hsa-miR-4508	CLIP-seq
MIRT1546145	hsa-miR-1285	CLIP-seq
MIRT861970	hsa-miR-1324	CLIP-seq
MIRT1955739	hsa-miR-137	CLIP-seq
MIRT1955740	hsa-miR-1909	CLIP-seq
MIRT861973	hsa-miR-214	CLIP-seq
MIRT1955741	hsa-miR-2467-5p	CLIP-seq
MIRT861975	hsa-miR-3120-3p	CLIP-seq
MIRT1955742	hsa-miR-3610	CLIP-seq
MIRT861981	hsa-miR-3619-5p	CLIP-seq
MIRT1955743	hsa-miR-4286	CLIP-seq
MIRT1955744	hsa-miR-4492	CLIP-seq
MIRT1955745	hsa-miR-4498	CLIP-seq
MIRT1955746	hsa-miR-4505	CLIP-seq
MIRT1955747	hsa-miR-4646-5p	CLIP-seq
MIRT861999	hsa-miR-761	CLIP-seq
MIRT1955748	hsa-miR-762	CLIP-seq
MIRT1955749	hsa-miR-922	CLIP-seq
MIRT1546145	hsa-miR-1285	CLIP-seq
MIRT2193376	hsa-miR-15a	CLIP-seq
MIRT2193377	hsa-miR-15b	CLIP-seq
MIRT2193378	hsa-miR-16	CLIP-seq
MIRT2193379	hsa-miR-195	CLIP-seq
MIRT2193380	hsa-miR-3184	CLIP-seq
MIRT2193381	hsa-miR-3913-3p	CLIP-seq
MIRT2193382	hsa-miR-423-5p	CLIP-seq
MIRT2193383	hsa-miR-424	CLIP-seq
MIRT1955743	hsa-miR-4286	CLIP-seq
MIRT2193384	hsa-miR-4468	CLIP-seq
MIRT2193385	hsa-miR-4514	CLIP-seq
MIRT2193386	hsa-miR-4660	CLIP-seq
MIRT2193387	hsa-miR-4690-5p	CLIP-seq
MIRT2193388	hsa-miR-4692	CLIP-seq
MIRT2193389	hsa-miR-489	CLIP-seq
MIRT2193390	hsa-miR-497	CLIP-seq
MIRT2193391	hsa-miR-541	CLIP-seq
MIRT2193392	hsa-miR-646	CLIP-seq
MIRT2193393	hsa-miR-654-5p	CLIP-seq
MIRT1546145	hsa-miR-1285	CLIP-seq
MIRT2193384	hsa-miR-4468	CLIP-seq
MIRT2385529	hsa-miR-4736	CLIP-seq
MIRT1546145	hsa-miR-1285	CLIP-seq
MIRT2496462	hsa-miR-29a	CLIP-seq
MIRT2496463	hsa-miR-29b	CLIP-seq
MIRT2496464	hsa-miR-29c	CLIP-seq
MIRT2496465	hsa-miR-329	CLIP-seq
MIRT2496466	hsa-miR-362-3p	CLIP-seq
MIRT2496467	hsa-miR-3663-3p	CLIP-seq
MIRT2496468	hsa-miR-4299	CLIP-seq
MIRT2496469	hsa-miR-4456	CLIP-seq
MIRT2496470	hsa-miR-4522	CLIP-seq
MIRT2496471	hsa-miR-4710	CLIP-seq
MIRT2496472	hsa-miR-4792	CLIP-seq
MIRT2496473	hsa-miR-548q	CLIP-seq

Show/Hide all (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
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0007165	Process	Signal transduction	TAS	9339374
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0009986	Component	Cell surface	IDA	23055945
GO:0016787	Function	Hydrolase activity	IEA
GO:0045202	Component	Synapse	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

MIM	HGNC	e!Ensembl
602537	1482	ENSG00000149260

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

MFSCVKPYEDQNYSALRRDCRRRKVLFEDPLFPATDDSLYYKGTPGPAVRWKRPKGICED
PRLFVDGISSHDLHQGQVGNCWFVAACSSLASRESLWQKVIPDWKEQEWDPEKPNAYAGI
FHFHFWRFGEWVDVVIDDRLPTVNNQLIYCHSNSRNEFWCALVEKAYAKLAGCYQALDGG
NTADALVDFTGGVSEPIDLTEGDFANDETKRNQLFERMLKVHSRGGLISASIKAVTAADM
EARLACGLVKGHAYAVTDVRKVRLGHGLLAFFKSEKLDMIRLRNPWGEREWNGPWSDTSE
EWQKVSKSEREKMGVTVQDDGEFWMTFEDVCRYFTDIIKCRVINTSHLSIHKTWEEARLH
GAWTLHEDPRQNRGGGCINHKDTFFQNPQYIFEVKKPEDEVLICIQQRPKRSTRREGKGE
NLAIGFDIYKVEENRQYRMHSLQHKAASSIYINSRSVFLRTDQPEGRYVIIPTTFEPGHT
GEFLLRVFTDVPSNCRELRLDEPPHTCWSSLCGYPQLVTQVHVLGAAGLKDSPTGANSYV
IIKCEGDKVRSAVQKGTSTPEYNVKGIFYRKKLSQPITVQVWNHRVLKDEFLGQVHLKAD
PDNLQALHTLHLRDRNSRQPSNLPGTVAVHILSSTSLMAV

Sequence length

640

Interactions

View interactions

	Reactome
			Degradation of the extracellular matrix

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant neovascular inflammatory vitreoretinopathy	Pathogenic	rs397514601	RCV001535499
CAPN5-related disorder	Pathogenic	rs886041303	RCV004757186
Proliferative vitreoretinopathy	Pathogenic	rs886041303, rs397514601, rs397514602, rs1950456995	RCV000626481 RCV000033027 RCV000033028 RCV001078182

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs59430193	RCV005914350
Cholangiocarcinoma	Benign	rs59430193	RCV005914355
Colon adenocarcinoma	Benign; Uncertain significance	rs59430193, rs563895448	RCV005914348 RCV005930318
Colorectal cancer	Benign	rs59430193, rs199886178	RCV005914353 RCV005907767
Familial cancer of breast	Uncertain significance; Benign	rs375949463, rs199886178	RCV005911178 RCV005907765
Gastric cancer	Benign	rs199886178	RCV005907768
Hepatocellular carcinoma	Benign	rs11604536	RCV005892669
High myopia	Uncertain significance	rs370528920	RCV005863428
Late-onset cone-rod dystrophy	Uncertain significance	rs781925553	RCV005419292
Lung cancer	Benign	rs199886178	RCV005907769
Lymphoma	Benign	rs59430193	RCV005914354
Malignant lymphoma, large B-cell, diffuse	Benign	rs59430193, rs11604536	RCV005914352 RCV005892670
Malignant tumor of esophagus	Benign	rs199886178	RCV005907766
Melanoma	Likely benign	rs182958020	RCV005920950
Nonpapillary renal cell carcinoma	Benign	rs59430193, rs150295190	RCV005914349 RCV005902904
Occult macular dystrophy	Uncertain significance	rs397514601	RCV003389597
Retinal dystrophy	Uncertain significance; Likely benign	rs781925553, rs782006156, rs369224922, rs782580306, rs563895448, rs782717683, rs782495056, rs782792970, rs782244741, rs147530510, rs199504989	RCV004816848 RCV004816738 RCV004816844 RCV004816962 RCV004817191 RCV004817094 RCV004817857 RCV001075117 RCV001075349 RCV004813886 RCV004814012
Uveal melanoma	Benign	rs59430193	RCV005914351

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autoimmune Diseases	Associate	23055945
Blindness	Associate	25216694, 29040051
Blood Coagulation Disorders Inherited	Associate	23055945
Cataract	Associate	25856303
Deaf Blind Disorders	Associate	30986125
Developmental Disabilities	Associate	29472286
Diabetes Mellitus Type 2	Associate	17227582, 24280871
Diabetic Retinopathy	Associate	23055945
Disease	Associate	29472286
Endometriosis	Inhibit	18829447
Eye Diseases	Associate	25856303
Fibrosis	Associate	29472286
Hearing Loss	Associate	29472286
Hereditary Autoinflammatory Diseases	Associate	29472286
Macular Edema	Associate	25856303
Neoplasms	Associate	28193203
Nerve Degeneration	Associate	23055945
Neuroblastoma	Associate	33811937
Neurologic Manifestations	Associate	29472286
Neuronal Ceroid Lipofuscinoses	Associate	16415965
Obesity	Inhibit	18657264
Polycystic Ovary Syndrome	Associate	17227582
Retinal Degeneration	Associate	25856303, 29472286
Retinal Detachment	Associate	25856303
Retinal Diseases	Associate	31968260
Retinal Neovascularization	Associate	23055945
Uveitis	Associate	23055945, 25856303, 29472286, 32707200
Uveitis Posterior	Associate	25856303, 32707200
Vision Disorders	Associate	16415965
Vitreoretinopathy Proliferative	Associate	25856303, 29472286, 30986125, 31110225

CAPN5 (calpain 5)