CAPN5 (calpain 5)

Gene

• Entrez ID: 726
• Gene name: Calpain 5
• Gene symbol: CAPN5
• Synonyms: ADNIV, HTRA3, VRNI, nCL-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 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT437674	hsa-miR-214-3p	Microarray, qRT-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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004198	Function	Calcium-dependent cysteine-type endopeptidase activity	IBA	21873635
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006508	Process	Proteolysis	IBA	21873635
GO:0007165	Process	Signal transduction	TAS	9339374
GO:0009986	Component	Cell surface	IDA	23055945
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

Other IDs

• MIM: 602537
• HGNC: 1482
• e!Ensembl: ENSG00000149260

Protein

• UniProt ID: 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

• Sequence:

  MFSCVKPYEDQNYSALRRDCRRRKVLFEDPLFPATDDSLYYKGTPGPAVRWKRPKGICED
  PRLFVDGISSHDLHQGQVGNCWFVAACSSLASRESLWQKVIPDWKEQEWDPEKPNAYAGI
  FHFHFWRFGEWVDVVIDDRLPTVNNQLIYCHSNSRNEFWCALVEKAYAKLAGCYQALDGG
  NTADALVDFTGGVSEPIDLTEGDFANDETKRNQLFERMLKVHSRGGLISASIKAVTAADM
  EARLACGLVKGHAYAVTDVRKVRLGHGLLAFFKSEKLDMIRLRNPWGEREWNGPWSDTSE
  EWQKVSKSEREKMGVTVQDDGEFWMTFEDVCRYFTDIIKCRVINTSHLSIHKTWEEARLH
  GAWTLHEDPRQNRGGGCINHKDTFFQNPQYIFEVKKPEDEVLICIQQRPKRSTRREGKGE
  NLAIGFDIYKVEENRQYRMHSLQHKAASSIYINSRSVFLRTDQPEGRYVIIPTTFEPGHT
  GEFLLRVFTDVPSNCRELRLDEPPHTCWSSLCGYPQLVTQVHVLGAAGLKDSPTGANSYV
  IIKCEGDKVRSAVQKGTSTPEYNVKGIFYRKKLSQPITVQVWNHRVLKDEFLGQVHLKAD
  PDNLQALHTLHLRDRNSRQPSNLPGTVAVHILSSTSLMAV

• Sequence length: 640

Pathways

Reactome:

Degradation of the extracellular matrix

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	23555315
Proliferative vitreoretinopathy	Proliferative vitreoretinopathy	rs397514601, rs397514602, rs886041303, rs1950456995	23055945
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091

Unknown
Disease name	Disease term	dbSNP ID	References
Eosinophilia	Eosinophilic esophagitis		25017104
Neovascular inflammatory vitreoretinopathy	Autosomal dominant neovascular inflammatory vitreoretinopathy
Peripheral retinal neovascularization	Peripheral retinal neovascularization
Uveitis	Uveitis
Vitreoretinal degeneration	Vitreoretinal degeneration