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	5589
Gene name	PRKCSH beta subunit of glucosidase II
Gene symbol	PRKCSH
Synonyms (NCBI Gene)	80K-HAGE-R2G19P1GIIBGIIbetaGluIIbetaPCLDPCLD1PKCSHPLD1VASAP-60
Chromosome	19
Chromosome location	19p13.2
Summary	This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associa

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs112915100	T>C	Likely-pathogenic	Splice donor variant
rs121918519	C>T	Pathogenic	Coding sequence variant, stop gained
rs121918520	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs139991238	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398123688	G>T	Pathogenic	Stop gained, coding sequence variant
rs757957327	TG>-	Pathogenic	Intron variant, splice donor variant
rs774233325	G>C,T	Pathogenic	Splice donor variant
rs794727187	AAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555725707	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555728968	A>G	Pathogenic	Splice acceptor variant
rs1555728990	T>G	Pathogenic	Coding sequence variant, stop gained

191

Show/Hide all (191)

miRTarBase ID	miRNA	Experiments	Reference
MIRT044099	hsa-miR-361-5p	CLASH	23622248
MIRT043699	hsa-miR-342-3p	CLASH	23622248
MIRT043014	hsa-miR-324-3p	CLASH	23622248
MIRT040594	hsa-miR-92b-3p	CLASH	23622248
MIRT039223	hsa-miR-454-3p	CLASH	23622248
MIRT038254	hsa-miR-330-5p	CLASH	23622248
MIRT1263393	hsa-miR-1	CLIP-seq
MIRT1263394	hsa-miR-1207-5p	CLIP-seq
MIRT1263395	hsa-miR-1262	CLIP-seq
MIRT1263396	hsa-miR-1275	CLIP-seq
MIRT1263397	hsa-miR-1293	CLIP-seq
MIRT1263398	hsa-miR-1321	CLIP-seq
MIRT1263399	hsa-miR-206	CLIP-seq
MIRT1263400	hsa-miR-2114	CLIP-seq
MIRT1263401	hsa-miR-23a	CLIP-seq
MIRT1263402	hsa-miR-23b	CLIP-seq
MIRT1263403	hsa-miR-23c	CLIP-seq
MIRT1263404	hsa-miR-2861	CLIP-seq
MIRT1263405	hsa-miR-3138	CLIP-seq
MIRT1263406	hsa-miR-3147	CLIP-seq
MIRT1263407	hsa-miR-3151	CLIP-seq
MIRT1263408	hsa-miR-3180	CLIP-seq
MIRT1263409	hsa-miR-3180-3p	CLIP-seq
MIRT1263410	hsa-miR-3196	CLIP-seq
MIRT1263411	hsa-miR-3616-3p	CLIP-seq
MIRT1263412	hsa-miR-3619-3p	CLIP-seq
MIRT1263413	hsa-miR-4260	CLIP-seq
MIRT1263414	hsa-miR-4266	CLIP-seq
MIRT1263415	hsa-miR-4270	CLIP-seq
MIRT1263416	hsa-miR-4286	CLIP-seq
MIRT1263417	hsa-miR-4301	CLIP-seq
MIRT1263418	hsa-miR-4425	CLIP-seq
MIRT1263419	hsa-miR-4441	CLIP-seq
MIRT1263420	hsa-miR-4446-3p	CLIP-seq
MIRT1263421	hsa-miR-4447	CLIP-seq
MIRT1263422	hsa-miR-4448	CLIP-seq
MIRT1263423	hsa-miR-4461	CLIP-seq
MIRT1263424	hsa-miR-4472	CLIP-seq
MIRT1263425	hsa-miR-4483	CLIP-seq
MIRT1263426	hsa-miR-4491	CLIP-seq
MIRT1263427	hsa-miR-4492	CLIP-seq
MIRT1263428	hsa-miR-4493	CLIP-seq
MIRT1263429	hsa-miR-4498	CLIP-seq
MIRT1263430	hsa-miR-4505	CLIP-seq
MIRT1263431	hsa-miR-4525	CLIP-seq
MIRT1263432	hsa-miR-4646-5p	CLIP-seq
MIRT1263433	hsa-miR-4649-5p	CLIP-seq
MIRT1263434	hsa-miR-4651	CLIP-seq
MIRT1263435	hsa-miR-4657	CLIP-seq
MIRT1263436	hsa-miR-4665-5p	CLIP-seq
MIRT1263437	hsa-miR-4687-3p	CLIP-seq
MIRT1263438	hsa-miR-4695-5p	CLIP-seq
MIRT1263439	hsa-miR-4701-3p	CLIP-seq
MIRT1263440	hsa-miR-4723-5p	CLIP-seq
MIRT1263441	hsa-miR-4728-5p	CLIP-seq
MIRT1263442	hsa-miR-4729	CLIP-seq
MIRT1263443	hsa-miR-4731-5p	CLIP-seq
MIRT1263444	hsa-miR-4736	CLIP-seq
MIRT1263445	hsa-miR-4739	CLIP-seq
MIRT1263446	hsa-miR-4756-5p	CLIP-seq
MIRT1263447	hsa-miR-4761-5p	CLIP-seq
MIRT1263448	hsa-miR-4763-3p	CLIP-seq
MIRT1263449	hsa-miR-4776-5p	CLIP-seq
MIRT1263450	hsa-miR-4779	CLIP-seq
MIRT1263451	hsa-miR-4800-5p	CLIP-seq
MIRT1263452	hsa-miR-513a-5p	CLIP-seq
MIRT1263453	hsa-miR-541	CLIP-seq
MIRT1263454	hsa-miR-554	CLIP-seq
MIRT1263455	hsa-miR-608	CLIP-seq
MIRT1263456	hsa-miR-613	CLIP-seq
MIRT1263457	hsa-miR-625	CLIP-seq
MIRT1263458	hsa-miR-637	CLIP-seq
MIRT1263459	hsa-miR-654-5p	CLIP-seq
MIRT1263460	hsa-miR-660	CLIP-seq
MIRT1263461	hsa-miR-661	CLIP-seq
MIRT1263462	hsa-miR-762	CLIP-seq
MIRT1263393	hsa-miR-1	CLIP-seq
MIRT2077553	hsa-miR-1205	CLIP-seq
MIRT1263394	hsa-miR-1207-5p	CLIP-seq
MIRT1263397	hsa-miR-1293	CLIP-seq
MIRT2077554	hsa-miR-1909	CLIP-seq
MIRT1263399	hsa-miR-206	CLIP-seq
MIRT1263400	hsa-miR-2114	CLIP-seq
MIRT2077555	hsa-miR-2278	CLIP-seq
MIRT1263407	hsa-miR-3151	CLIP-seq
MIRT1263408	hsa-miR-3180	CLIP-seq
MIRT1263409	hsa-miR-3180-3p	CLIP-seq
MIRT2077556	hsa-miR-3184	CLIP-seq
MIRT1263410	hsa-miR-3196	CLIP-seq
MIRT1263411	hsa-miR-3616-3p	CLIP-seq
MIRT2077557	hsa-miR-3656	CLIP-seq
MIRT2077558	hsa-miR-423-5p	CLIP-seq
MIRT1263414	hsa-miR-4266	CLIP-seq
MIRT1263416	hsa-miR-4286	CLIP-seq
MIRT2077559	hsa-miR-4297	CLIP-seq
MIRT1263417	hsa-miR-4301	CLIP-seq
MIRT2077560	hsa-miR-4323	CLIP-seq
MIRT2077561	hsa-miR-4418	CLIP-seq
MIRT1263420	hsa-miR-4446-3p	CLIP-seq
MIRT1263423	hsa-miR-4461	CLIP-seq
MIRT1263425	hsa-miR-4483	CLIP-seq
MIRT1263426	hsa-miR-4491	CLIP-seq
MIRT1263427	hsa-miR-4492	CLIP-seq
MIRT1263429	hsa-miR-4498	CLIP-seq
MIRT1263430	hsa-miR-4505	CLIP-seq
MIRT2077562	hsa-miR-4514	CLIP-seq
MIRT2077563	hsa-miR-4632	CLIP-seq
MIRT1263433	hsa-miR-4649-5p	CLIP-seq
MIRT1263434	hsa-miR-4651	CLIP-seq
MIRT1263435	hsa-miR-4657	CLIP-seq
MIRT2077564	hsa-miR-4692	CLIP-seq
MIRT1263438	hsa-miR-4695-5p	CLIP-seq
MIRT2077565	hsa-miR-4722-3p	CLIP-seq
MIRT1263443	hsa-miR-4731-5p	CLIP-seq
MIRT1263444	hsa-miR-4736	CLIP-seq
MIRT2077566	hsa-miR-4758-3p	CLIP-seq
MIRT1263447	hsa-miR-4761-5p	CLIP-seq
MIRT1263448	hsa-miR-4763-3p	CLIP-seq
MIRT1263450	hsa-miR-4779	CLIP-seq
MIRT2077567	hsa-miR-509-3-5p	CLIP-seq
MIRT2077568	hsa-miR-509-5p	CLIP-seq
MIRT1263452	hsa-miR-513a-5p	CLIP-seq
MIRT2077569	hsa-miR-532-5p	CLIP-seq
MIRT1263453	hsa-miR-541	CLIP-seq
MIRT1263454	hsa-miR-554	CLIP-seq
MIRT1263455	hsa-miR-608	CLIP-seq
MIRT1263456	hsa-miR-613	CLIP-seq
MIRT1263458	hsa-miR-637	CLIP-seq
MIRT1263459	hsa-miR-654-5p	CLIP-seq
MIRT1263462	hsa-miR-762	CLIP-seq
MIRT2077570	hsa-miR-940	CLIP-seq
MIRT1263394	hsa-miR-1207-5p	CLIP-seq
MIRT1263400	hsa-miR-2114	CLIP-seq
MIRT2077555	hsa-miR-2278	CLIP-seq
MIRT1263401	hsa-miR-23a	CLIP-seq
MIRT1263402	hsa-miR-23b	CLIP-seq
MIRT1263403	hsa-miR-23c	CLIP-seq
MIRT1263414	hsa-miR-4266	CLIP-seq
MIRT1263416	hsa-miR-4286	CLIP-seq
MIRT1263417	hsa-miR-4301	CLIP-seq
MIRT1263420	hsa-miR-4446-3p	CLIP-seq
MIRT1263421	hsa-miR-4447	CLIP-seq
MIRT1263423	hsa-miR-4461	CLIP-seq
MIRT1263424	hsa-miR-4472	CLIP-seq
MIRT1263427	hsa-miR-4492	CLIP-seq
MIRT1263429	hsa-miR-4498	CLIP-seq
MIRT1263430	hsa-miR-4505	CLIP-seq
MIRT1263433	hsa-miR-4649-5p	CLIP-seq
MIRT1263434	hsa-miR-4651	CLIP-seq
MIRT1263438	hsa-miR-4695-5p	CLIP-seq
MIRT1263442	hsa-miR-4729	CLIP-seq
MIRT1263443	hsa-miR-4731-5p	CLIP-seq
MIRT1263444	hsa-miR-4736	CLIP-seq
MIRT1263447	hsa-miR-4761-5p	CLIP-seq
MIRT1263448	hsa-miR-4763-3p	CLIP-seq
MIRT1263450	hsa-miR-4779	CLIP-seq
MIRT1263452	hsa-miR-513a-5p	CLIP-seq
MIRT1263454	hsa-miR-554	CLIP-seq
MIRT1263455	hsa-miR-608	CLIP-seq
MIRT1263458	hsa-miR-637	CLIP-seq
MIRT1263462	hsa-miR-762	CLIP-seq
MIRT1263394	hsa-miR-1207-5p	CLIP-seq
MIRT1263397	hsa-miR-1293	CLIP-seq
MIRT1263400	hsa-miR-2114	CLIP-seq
MIRT1263407	hsa-miR-3151	CLIP-seq
MIRT1263408	hsa-miR-3180	CLIP-seq
MIRT1263409	hsa-miR-3180-3p	CLIP-seq
MIRT1263410	hsa-miR-3196	CLIP-seq
MIRT1263414	hsa-miR-4266	CLIP-seq
MIRT1263417	hsa-miR-4301	CLIP-seq
MIRT1263420	hsa-miR-4446-3p	CLIP-seq
MIRT1263423	hsa-miR-4461	CLIP-seq
MIRT1263425	hsa-miR-4483	CLIP-seq
MIRT1263427	hsa-miR-4492	CLIP-seq
MIRT1263429	hsa-miR-4498	CLIP-seq
MIRT1263430	hsa-miR-4505	CLIP-seq
MIRT1263433	hsa-miR-4649-5p	CLIP-seq
MIRT1263434	hsa-miR-4651	CLIP-seq
MIRT1263438	hsa-miR-4695-5p	CLIP-seq
MIRT1263442	hsa-miR-4729	CLIP-seq
MIRT1263443	hsa-miR-4731-5p	CLIP-seq
MIRT1263444	hsa-miR-4736	CLIP-seq
MIRT1263448	hsa-miR-4763-3p	CLIP-seq
MIRT1263450	hsa-miR-4779	CLIP-seq
MIRT1263452	hsa-miR-513a-5p	CLIP-seq
MIRT1263453	hsa-miR-541	CLIP-seq
MIRT1263454	hsa-miR-554	CLIP-seq
MIRT1263455	hsa-miR-608	CLIP-seq
MIRT1263458	hsa-miR-637	CLIP-seq
MIRT1263459	hsa-miR-654-5p	CLIP-seq
MIRT1263462	hsa-miR-762	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001889	Process	Liver development	IBA
GO:0005080	Function	Protein kinase C binding	IPI	15707389
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	10929008
GO:0005783	Component	Endoplasmic reticulum	IDA	19801576
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	NAS	10929008
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006491	Process	N-glycan processing	IBA
GO:0006491	Process	N-glycan processing	IDA	10929008
GO:0017177	Component	Glucosidase II complex	IBA
GO:0017177	Component	Glucosidase II complex	IDA	10929008
GO:0017177	Component	Glucosidase II complex	IEA
GO:0017177	Component	Glucosidase II complex	IPI	10929008
GO:0035556	Process	Intracellular signal transduction	NAS	2793184, 9043864
GO:0043231	Component	Intracellular membrane-bounded organelle	IMP	10929008
GO:0044325	Function	Transmembrane transporter binding	IPI	19801576
GO:0046872	Function	Metal ion binding	IEA
GO:0051219	Function	Phosphoprotein binding	IPI	19801576

MIM	HGNC	e!Ensembl
177060	9411	ENSG00000130175

P14314

Protein name

Glucosidase 2 subunit beta (80K-H protein) (Glucosidase II subunit beta) (Protein kinase C substrate 60.1 kDa protein heavy chain) (PKCSH)

Protein function

Regulatory subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for efficient PKD1/Po

PDB

8D43 , 8EMR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12999	PRKCSH-like	1 → 174	Glucosidase II beta subunit-like	Family
PF13202	EF-hand_5	213 → 236	EF hand	Domain
PF13015	PRKCSH_1	373 → 523	Glucosidase II beta subunit-like protein	Family

Sequence

MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKD
GSDEPGTAACPNGSFHCTNTGYKPLYIPSNRVNDGVCDCCDGTDEYNSGVICENTCKEKG
RKERESLQQMAEVTREGFRLKKILIEDWKKAREEKQKKLIELQAGKKSLEDQVEMLRTVK
EEAEKPEREAKEQHQKLWEEQLAAAKAQQEQELAADAFKELDDDMDGTVSVTELQTHPEL
DTDGDGALSEAEAQALLSGDTQTDATSFYDRVWAAIRDKYRSEALPTDLPAPSAPDLTEP
KEEQPPVPSSPTEEEEEEEEEEEEEAEEEEEEEDSEEAPPPLSPPQPASPAEEDKMPPYD
EQTQAFIDAAQEARNKFEEAERSLKDMEESIRNLEQEISFDFGPNGEFAYLYSQCYELTT
NEYVYRLCPFKLVSQKPKLGGSPTSLGTWGSWIGPDHDKFSAMKYEQGTGCWQGPNRSTT
VRLLCGKETMVTSTTEPSRCEYLMELMTPAACPEPPPEAPTEDDHDEL

Sequence length

528

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum		Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) N-glycan trimming in the ER and Calnexin/Calreticulin cycle Post-translational protein phosphorylation Calnexin/calreticulin cycle

217

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 polycystic liver disease	Pathogenic; Likely pathogenic	rs779685748, rs121918520, rs1969723330, rs879147040, rs2144822186, rs2144822009, rs2144807765, rs2144826022, rs1969752491	RCV001844857 RCV001844860 RCV001844867 RCV001844872 RCV001844927 RCV001844956 RCV001844967 RCV001844996 RCV001845007
Polycystic liver disease 1	Pathogenic; Likely pathogenic	rs779685748, rs749223361, rs2144837651, rs1222631173, rs1555728968, rs774233325, rs757957327, rs121918519, rs121918520, rs1555725707, rs879147040, rs2512507349, rs1555728990, rs112915100, rs756238324, rs1970419486 View all (1 more)	RCV001353243 RCV001535991 RCV002249140 RCV005256876 RCV003319950 RCV000014143 RCV000014144 RCV000014145 RCV000014146 RCV000014147 RCV000014148 RCV004515816 RCV004547322 RCV000584819 RCV001784401 RCV001280825 RCV001280887
PRKCSH-related disorder	Pathogenic	rs779685748	RCV003426055

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs148197108	RCV005914995
Cervical cancer	Likely benign; Benign	rs148197108, rs143718876	RCV005914997 RCV005894770
Cholangiocarcinoma	Likely benign; Benign	rs148197108, rs45626947	RCV005915001 RCV005915637
Colorectal cancer	Uncertain significance	rs754580626	RCV005934986
Familial cancer of breast	Benign; Uncertain significance	rs143718876, rs201157643, rs189520103	RCV005894768 RCV005897384 RCV005904661
Gastric cancer	Likely benign; Conflicting classifications of pathogenicity	rs191571650, rs148197108, rs373416744	RCV005917439 RCV005914998 RCV005926492
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs373416744	RCV005926488
Lung cancer	Likely benign; Benign	rs148197108, rs189520103	RCV005915002 RCV005904662
Lymphoma	Benign	rs45626947	RCV005915634
Malignant lymphoma, large B-cell, diffuse	Benign; Conflicting classifications of pathogenicity	rs45626947, rs373416744	RCV005915633 RCV005926491
Malignant tumor of esophagus	Likely benign; Conflicting classifications of pathogenicity; Benign	rs191571650, rs116661598, rs148197108, rs373416744, rs143718876	RCV005917438 RCV005917518 RCV005914996 RCV005926489 RCV005894769
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs373416744	RCV005926487
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Uncertain significance	rs373416744, rs201157643	RCV005926490 RCV005897385
Ovarian serous cystadenocarcinoma	Likely benign	rs148197108	RCV005914999
See cases	Conflicting classifications of pathogenicity	rs768405270	RCV002252904
Thymoma	Likely benign; Benign	rs148197108, rs45626947	RCV005915000 RCV005915636
Uterine carcinosarcoma	Benign	rs45626947	RCV005915635
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs116661598, rs45626947, rs189520103	RCV005917519 RCV005915638 RCV005904663

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinogenesis	Associate	38245572
Carcinoma Hepatocellular	Associate	23644164
Carcinoma Non Small Cell Lung	Associate	25528770
Cysts	Associate	18587325, 23209713, 27552964, 30172093
Hepatitis B	Associate	23644164
Kidney Diseases Cystic	Associate	36573973
Liver Diseases	Associate	38101549
Liver Failure	Associate	12529853, 22415584
Microsatellite Instability	Associate	38245572
Neoplasms	Associate	38245572
Pancreatic Neoplasms	Associate	38330578
Polycystic Kidney Autosomal Dominant	Associate	27259053
Polycystic Kidney Diseases	Associate	12529853, 33437033
Polycystic liver disease	Associate	12529853, 16788219, 18587325, 23209713, 24706814, 27259053, 27552964, 30172093, 38101549

PRKCSH (PRKCSH beta subunit of glucosidase II)