CALR3 (calreticulin 3)

Gene

• Entrez ID: 125972
• Gene name: Calreticulin 3
• Gene symbol: CALR3
• Synonyms (NCBI Gene): CMH19, CRT2, CT93
• Chromosome: 19
• Chromosome location: 19p13.11
• Summary: The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity fo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs142951029	T>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs182376945	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs747656642	A>-	Conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT859774	hsa-miR-4450	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IDA	21590275
GO:0005635	Component	Nuclear envelope	IDA	21590275
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IDA	21590275
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0006457	Process	Protein folding	IBA
GO:0006457	Process	Protein folding	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0036503	Process	ERAD pathway	IBA
GO:0044183	Function	Protein folding chaperone	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051082	Function	Unfolded protein binding	IEA

Other IDs

• MIM: 611414
• HGNC: 20407
• e!Ensembl: ENSG00000269058

Protein

• UniProt ID: Q96L12
• Protein name: Calreticulin-3 (Calreticulin-2) (Calsperin)
• Protein function: During spermatogenesis, may act as a lectin-independent chaperone for specific client proteins such as ADAM3. Required for sperm fertility (By similarity). CALR3 capacity for calcium-binding may be absent or much lower than that of CALR. {ECO:00
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00262	Calreticulin	23 → 248	Calreticulin family	Family
  PF00262	Calreticulin	244 → 318	Calreticulin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Testis specific. {ECO:0000269|PubMed:12384296}.
• Sequence:

  MARALVQLWAICMLRVALATVYFQEEFLDGEHWRNRWLQSTNDSRFGHFRLSSGKFYGHK
  EKDKGLQTTQNGRFYAISARFKPFSNKGKTLVIQYTVKHEQKMDCGGGYIKVFPADIDQK
  NLNGKSQYYIMFGPDICGFDIKKVHVILHFKNKYHENKKLIRCKVDGFTHLYTLILRPDL
  SYDVKIDGQSIESGSIEYDWNLTSLKKETSPAESKDWEQTKDNKAQDWEKHFLDASTSKQ
  SDWNGDLDGDWPAPMLQKPPYQDGLKPEGIHKDVWLHRKMKNTDYLTQYDLSEFENIGAI
  GLELWQVRSGTIFDNFLITDDEEYADNFGKATWGETKGPEREMDAIQAKEEMKKAREEEE
  EELLSGKINRHEHYFNQFHRRNEL

• Sequence length: 384

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Arrhythmogenic right ventricular cardiomyopathy	Conflicting classifications of pathogenicity	rs142951029	RCV000157136
CALR3-related disorder	Uncertain significance; Benign; Likely benign	rs368434498, rs143158265, rs149634686, rs144355944, rs566199743, rs377026384, rs550089146	RCV003399146 RCV003919984 RCV003947799 RCV003900211 RCV003960366 RCV003948157 RCV003898215
Cardiomyopathy	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs10404156, rs1599717620, rs756560192, rs746369368	RCV000852751 RCV000852479 RCV000852752 RCV000852753
Cardiovascular phenotype	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs10404156, rs12459238, rs118131979, rs370721650, rs140290452, rs75099211, rs9305079, rs3810198, rs10403020, rs1247489343	RCV000621757 RCV000620226 RCV000618157 RCV000618943 RCV000618856 RCV000618962 RCV000620455 RCV000617668 RCV000618483 RCV000619715
Hypertrophic cardiomyopathy	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs143334090, rs10404156, rs142951029, rs75099211, rs199561391, rs2093383229	RCV001843998 RCV000852751 RCV000172523 RCV003227765 RCV000768499 RCV001281573
Hypertrophic cardiomyopathy 19	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs2093387315, rs368434498, rs2093384836, rs755784741, rs201886703, rs1275633743, rs1330398267, rs577809057, rs372912264, rs1443146127, rs1267486642, rs748099861, rs200844516, rs2122128398, rs761736548, rs372889302, rs374869347, rs2122142658, rs759314483, rs765069343, rs779192527, rs374008030, rs143671909, rs921498420, rs143334090, rs772004043, rs2122154073, rs2093396133, rs753171373, rs1279334739, rs780211279, rs369518093, rs1167634332, rs1599718220, rs2122155319, rs2122142566, rs1396322901, rs766276146, rs2122131286, rs2122133577, rs764357332, rs374865616, rs985096797, rs1442412253, rs1430239846, rs2122133603, rs1413720533, rs780394746, rs2122142920, rs1035181108, rs140290452, rs2122131270, rs746917889, rs2093383195, rs776598394, rs772666036, rs143252466, rs777454147, rs779762872, rs780747845, rs777906520, rs1344157973, rs142902333, rs775571848, rs752458256, rs570064234, rs1159720687, rs777158814, rs546157618, rs2122142562, rs199588341, rs2513189885, rs730880060, rs368506422, rs1003038871, rs772912504, rs947511993, rs1233176565, rs762852375, rs186986407, rs762455628, rs10404156, rs12459238, rs182376945, rs1389735275, rs1021462598, rs1174834467, rs150376706, rs2093376463, rs766349117, rs149108772, rs1258428984, rs374187284, rs561183116, rs2513191180, rs146669521, rs2513188211, rs1313895173, rs368652672, rs10411092, rs143913852, rs1350003595, rs1227929044, rs1344890440, rs756445681, rs2093382969, rs760029019, rs768736111, rs2513188899, rs768826027, rs769879360, rs552364605, rs764707663, rs118131979, rs376479901, rs1306282315, rs144370982, rs775009764, rs143158265, rs149634686, rs878855223, rs758485228, rs2513195566, rs770476504, rs2513188311, rs1247644660, rs1466430342, rs2513195441, rs1398000694, rs964981557, rs148039385, rs140440387, rs1022237662, rs199561391, rs781108034, rs775484097, rs372514243, rs2513190099, rs1370414096, rs2513191044, rs2513191172, rs2513186493, rs2513188218, rs766911825, rs764305082, rs556663033, rs774405654, rs2513186392, rs531275904, rs747738664, rs776813962, rs903597980, rs1448400587, rs998776696, rs375182813, rs369859530, rs1183484360, rs1273156902, rs142951029, rs777429499, rs143932873, rs1060502978, rs200056222, rs370721650, rs75099211, rs752204583, rs1555775535, rs543953490, rs1555775874, rs369476772, rs144355944, rs199535524, rs145046810, rs566199743, rs377099405, rs1555775532, rs780488544, rs201198066, rs9305079, rs3810197, rs3810198, rs10403020, rs747656642, rs1172919657, rs1247489343, rs3810201, rs199900092, rs201321577, rs201265595, rs1248561462, rs748014562, rs961599926, rs1426645883, rs1329331101, rs768015132, rs150430942, rs1599717443, rs550089146, rs746871999, rs778791995, rs1599720904, rs946376334, rs747264355, rs1599718289, rs763294530, rs756560192, rs201203591, rs1011639048, rs780317722, rs774421614, rs200669493, rs377026384, rs1056692608, rs1163504118, rs1358738890, rs1188902703, rs1599721013, rs1599723855, rs780590548, rs767040811, rs2093383172, rs111870908, rs2093395920, rs2093387443, rs139061471, rs745435624, rs753917463, rs2093408003, rs1297452902, rs752960232, rs1209076661	RCV001315362 RCV001351325 RCV001348522 RCV001351562 RCV001342403 RCV001400151 RCV001431066 RCV001447712 RCV001431329 RCV001478453 RCV001476709 RCV001458612 RCV001493842 RCV001495304 RCV001492260 RCV001493860 RCV001479920 RCV001489090 RCV001505623 RCV001496557 RCV001482755 RCV001522980 RCV001519835 RCV005094722 RCV003640985 RCV003641002 RCV001944951 RCV001997432 RCV002035822 RCV001959525 RCV001891554 RCV001972878 RCV001871528 RCV001988384 RCV001930635 RCV001933361 RCV001912156 RCV001889590 RCV001982806 RCV001908617 RCV002003835 RCV002014544 RCV001943847 RCV002009292 RCV002000287 RCV002043698 RCV002031027 RCV001959371 RCV002022229 RCV001883161 RCV001950409 RCV001932836 RCV002014197 RCV001889997 RCV001909058 RCV001898953 RCV001998043 RCV002038558 RCV002142010 RCV002202199 RCV002118314 RCV002215487 RCV002146743 RCV002100465 RCV002175563 RCV002202470 RCV002171802 RCV002213252 RCV002122399 RCV002134692 RCV002100617 RCV002098500 RCV002137312 RCV002149259 RCV002303955 RCV005089769 RCV001850178 RCV003063285 RCV003071635 RCV003076303 RCV003085588 RCV003069845 RCV003089246 RCV003073079 RCV000461036 RCV000456929 RCV001078828 RCV003082948 RCV002596223 RCV002615902 RCV002620447 RCV002595708 RCV002603404 RCV002638264 RCV002586616 RCV002573863 RCV002630668 RCV002639258 RCV002659235 RCV002695943 RCV002740482 RCV002931980 RCV002938047 RCV002926733 RCV002932115 RCV002932687 RCV002947331 RCV002999211 RCV003001947 RCV002995866 RCV002972352 RCV002993991 RCV003015526 RCV003009902 RCV003019189 RCV003028573 RCV005059195 RCV000205787 RCV000204941 RCV005059247 RCV000232231 RCV001454570 RCV000231547 RCV000226001 RCV000228780 RCV003525437 RCV003525554 RCV003526957 RCV003527019 RCV003527065 RCV003527104 RCV003526999 RCV003527003 RCV003527158 RCV003526869 RCV003526975 RCV003527391 RCV003527204 RCV003527422 RCV003526497 RCV003526594 RCV003641186 RCV003641282 RCV003641471 RCV003641556 RCV003641543 RCV003641544 RCV003640636 RCV003642043 RCV003642082 RCV003642147 RCV003641355 RCV003641356 RCV003642198 RCV003642252 RCV003825317 RCV003821657 RCV003830917 RCV003840494 RCV003871638 RCV003879347 RCV003878105 RCV000023894 RCV000476858 RCV000460922 RCV000467702 RCV000474194 RCV000473444 RCV000459812 RCV000466260 RCV000467356 RCV000473373 RCV000536928 RCV000539617 RCV000538854 RCV000550410 RCV002530090 RCV000556466 RCV000526275 RCV001517641 RCV000552233 RCV000549366 RCV001466660 RCV000551205 RCV000615036 RCV000625413 RCV000611629 RCV000625412 RCV000611727 RCV000601348 RCV001241673 RCV000648822 RCV000648821 RCV000648823 RCV000648824 RCV000696300 RCV000698224 RCV000694911 RCV000685548 RCV000700645 RCV000695308 RCV000698639 RCV001855905 RCV000801511 RCV000817989 RCV000806881 RCV000815981 RCV000816932 RCV000792224 RCV000807971 RCV000816001 RCV000792506 RCV000803526 RCV000801993 RCV000803947 RCV005092529 RCV001431308 RCV001432670 RCV001422796 RCV000867083 RCV000867043 RCV001493394 RCV001463452 RCV000865118 RCV000874767 RCV001416616 RCV001460489 RCV001457871 RCV001401146 RCV005105576 RCV001051152 RCV001052456 RCV001065063 RCV001222688 RCV001203920 RCV001204008 RCV001204638 RCV001206623 RCV001229441 RCV001228534 RCV001229166 RCV001239014 RCV001247862 RCV001307007 RCV001296819 RCV001296715 RCV001295959
Primary dilated cardiomyopathy	Uncertain significance; Benign	rs368506422, rs140290452	RCV000157135 RCV000852750
Primary familial hypertrophic cardiomyopathy	Likely benign	rs730880060	RCV000157137
Restrictive cardiomyopathy	Uncertain significance	rs1599717620	RCV000852479

Associations from Text Mining
Disease Name	Relationship Type	References
Cardiomyopathy Hypertrophic	Associate	22515980
Testicular Neoplasms	Associate	26252478