PRKCSH Gene (Protein Coding)

Protein Kinase C Substrate 80K-H

GC19P011435
GIFtS:
45
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 associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [prov... See more...

Aliases for PRKCSH Gene

Aliases for PRKCSH Gene

  • Protein Kinase C Substrate 80K-H 2 3 5
  • Glucosidase 2 Subunit Beta 2 3 4
  • Protein Kinase C Substrate 60.1 KDa Protein Heavy Chain 3 4
  • Advanced Glycation End-Product Receptor 2 2 3
  • Glucosidase II Subunit Beta 3 4
  • Hepatocystin 2 3
  • VASAP-60 2 3
  • G19P1 3 4
  • PKCSH 3 4
  • GIIB 2 3
  • Protein Kinase C Substrate, 80 Kda Protein 3
  • Glucosidase II Beta Subunit 2
  • Polycystic Liver Disease 2
  • AGE-Binding Receptor 2 3
  • 80K-H Protein 4
  • AGE-R2 3
  • PRKCSH 5
  • PCLD1 3
  • PCLD 3
  • PLD1 3

External Ids for PRKCSH Gene

Previous HGNC Symbols for PRKCSH Gene

  • G19P1
  • PCLD
  • PLD1

Previous GeneCards Identifiers for PRKCSH Gene

  • GC19P011677
  • GC19P011769
  • GC19P011391
  • GC19P011407
  • GC19P011546
  • GC19P011121

Summaries for PRKCSH Gene

Entrez Gene Summary for PRKCSH Gene

  • 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 associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneCards Summary for PRKCSH Gene

PRKCSH (Protein Kinase C Substrate 80K-H) is a Protein Coding gene. Diseases associated with PRKCSH include Polycystic Liver Disease 1 With Or Without Kidney Cysts and Polycystic Liver Disease. Among its related pathways are Calnexin/calreticulin cycle and Innate Immune System. Gene Ontology (GO) annotations related to this gene include calcium ion binding and ion channel binding. An important paralog of this gene is GNPTG.

UniProtKB/Swiss-Prot Summary for PRKCSH Gene

  • 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/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity).

Gene Wiki entry for PRKCSH Gene

Additional gene information for PRKCSH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRKCSH Gene

Genomics for PRKCSH Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PRKCSH Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19J011434 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 265.6 +0.4 406 2.6 TBP ZBTB10 BCL11A SP1 SIX5 NR2C1 MNT IKZF1 SMAD5 ETS1 PRKCSH ODAD3 lnc-RGL3-1 ZNF20 ZNF44 CNN1 ZNF763 KRI1 ZNF136 ZNF799
GH19J011447 Promoter/Enhancer 0.7 EPDnew dbSUPER 250.4 +12.3 12252 0.1 ZNF513 EGR2 RBFOX2 HSALNG0124030 NONHSAG024841.2 piR-56626 PRKCSH EPOR ELAVL3 TSPAN16 KANK2 ODAD3
GH19J010651 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 35.2 -781.0 -780956 5.3 TBP ZBTB10 BCL11A MXD4 SP1 FEZF1 CEBPA SIX5 NR2C1 MNT ILF3 ILF3-DT piR-46435 piR-61384 ZNF627 LOC100419831 KRI1 DNMT1 FBXL12 RAVER1
GH19J010700 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 32.2 -733.8 -733783 2.2 TBP ZBTB10 SP1 MXD4 SIX5 NR2C1 MNT IKZF1 SMAD5 ETS1 QTRT1 ILF3 ZNF627 LOC100419831 KRI1 FBXL12 DNMT1 RAVER1 PRKCSH YIPF2
GH19J010501 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 24.5 -932.8 -932777 3 TBP ZBTB10 BCL11A SP1 CEBPA NR2C1 MNT SMAD5 ZNF217 POLR2A KEAP1 ILF3 KRI1 RAVER1 DNMT1 FBXL12 LOC100419831 PPAN PRKCSH ZNF561
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRKCSH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRKCSH

Top Transcription factor binding sites by QIAGEN in the PRKCSH gene promoter:
  • AP-2alpha
  • CREB
  • deltaCREB
  • ER-alpha
  • GATA-3
  • Hlf
  • MRF-2
  • Pax-5
  • USF-1
  • USF1

Genomic Locations for PRKCSH Gene

Latest Assembly
chr19:11,435,284-11,450,968
(GRCh38/hg38)
Size:
15,685 bases
Orientation:
Plus strand

Previous Assembly
chr19:11,546,456-11,561,783
(GRCh37/hg19 by Entrez Gene)
Size:
15,328 bases
Orientation:
Plus strand

chr19:11,546,109-11,561,783
(GRCh37/hg19 by Ensembl)
Size:
15,675 bases
Orientation:
Plus strand

Genomic View for PRKCSH Gene

Genes around PRKCSH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRKCSH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRKCSH Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PRKCSH Gene

Proteins for PRKCSH Gene

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  • Protein details for PRKCSH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14314-GLU2B_HUMAN
    Recommended name:
    Glucosidase 2 subunit beta
    Protein Accession:
    P14314
    Secondary Accessions:
    • A8K318
    • Q96BU9
    • Q96D06
    • Q9P0W9

    Protein attributes for PRKCSH Gene

    Size:
    528 amino acids
    Molecular mass:
    59425 Da
    Quaternary structure:
    • Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH) (PubMed:10929008). Binds glycosylated PTPRC (By similarity).
    SequenceCaution:
    • Sequence=AAH15154.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PRKCSH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRKCSH Gene

Protein Expression for PRKCSH Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PRKCSH Gene

  • Glycosylation at Asn72, Thr134, Thr287, Ser293, and Asn476
  • Ubiquitination at Lys438 and Lys487
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • GLU2B_HUMAN (1269)

Other Protein References for PRKCSH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRKCSH Gene

Domains & Families for PRKCSH Gene

Gene Families for PRKCSH Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PRKCSH Gene

InterPro:
Blocks:
  • Low density lipoprotein-receptor, class A
  • Glucosidase II beta subunit-like
ProtoNet:

Suggested Antigen Peptide Sequences for PRKCSH Gene

GenScript: Design optimal peptide antigens:
  • PRKCSH protein (A2VCQ4_HUMAN)
  • cDNA FLJ78273, highly similar to Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 2, mRNA (A8K318_HUMAN)
  • Protein kinase C substrate 60.1 kDa protein heavy chain (GLU2B_HUMAN)
genes like me logo Genes that share domains with PRKCSH: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PRKCSH Gene

Function for PRKCSH Gene

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Molecular function for PRKCSH Gene

UniProtKB/Swiss-Prot 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/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity).
GENATLAS Biochemistry:
protein kinase C substrate 80K-H (substrate for protein kinase C)

Phenotypes From GWAS Catalog for PRKCSH Gene

Gene Ontology (GO) - Molecular Function for PRKCSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005080 protein kinase C binding IPI 15707389
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 10929008
GO:0044325 ion channel binding IPI 19801576
genes like me logo Genes that share ontologies with PRKCSH: view
genes like me logo Genes that share phenotypes with PRKCSH: view

Human Phenotype Ontology for PRKCSH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRKCSH Gene

MGI Knock Outs for PRKCSH:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRKCSH

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PRKCSH Gene

Localization for PRKCSH Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRKCSH Gene

Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRKCSH gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRKCSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 19801576
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0017177 glucosidase II complex IBA,IDA 10929008
GO:0043231 intracellular membrane-bounded organelle IMP 10929008
genes like me logo Genes that share ontologies with PRKCSH: view

Pathways & Interactions for PRKCSH Gene

genes like me logo Genes that share pathways with PRKCSH: view

UniProtKB/Swiss-Prot P14314-GLU2B_HUMAN

  • Pathway: Glycan metabolism; N-glycan metabolism.

Gene Ontology (GO) - Biological Process for PRKCSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001889 liver development IBA 21873635
GO:0006457 protein folding TAS --
GO:0006491 N-glycan processing IDA 10929008
GO:0006807 nitrogen compound metabolic process IEA --
genes like me logo Genes that share ontologies with PRKCSH: view

No data available for SIGNOR curated interactions for PRKCSH Gene

Drugs & Compounds for PRKCSH Gene

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(1) Drugs for PRKCSH Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cellobiose Experimental Pharma 0
genes like me logo Genes that share compounds with PRKCSH: view

Transcripts for PRKCSH Gene

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mRNA/cDNA for PRKCSH Gene

7 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRKCSH

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for PRKCSH Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b ^ 14 ^
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - - - - - - - - - - - - - - -
SP5:
SP6:
SP7:
SP8:
SP9: - -
SP10: - - -
SP11: - - - - -
SP12: - -
SP13: - - - - - -
SP14: - - - - - - - - - - - - - - - - - - -
SP15: - - - - - -
SP16: - - - - - - - - - - - - - -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:

ExUns: 15 ^ 16a · 16b · 16c ^ 17a · 17b · 17c ^ 18a · 18b ^ 19a · 19b · 19c · 19d ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24
SP1:
SP2:
SP3:
SP4: - - - - - - - - - - - - -
SP5: - - - -
SP6: - - -
SP7: - - - -
SP8: - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - - - - - - - - - -
SP15:
SP16:
SP17:
SP18:
SP19: -
SP20:
SP21:
SP22:
SP23:

Relevant External Links for PRKCSH Gene

GeneLoc Exon Structure for
PRKCSH

Expression for PRKCSH Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRKCSH Gene

mRNA expression in normal human tissues for PRKCSH Gene
mRNA expression by BioGPS for PRKCSH GenemRNA expression by GTEx for PRKCSH Gene

Protein differential expression in normal tissues from HIPED for PRKCSH Gene

This gene is overexpressed in Lymph node (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PRKCSH Gene



Protein tissue co-expression partners for PRKCSH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRKCSH

SOURCE GeneReport for Unigene cluster for PRKCSH Gene:

Hs.610830

Evidence on tissue expression from TISSUES for PRKCSH Gene

  • Nervous system(4.9)
  • Lung(4.9)
  • Liver(4.8)
  • Blood(4.7)
  • Intestine(4.4)
  • Kidney(4.4)
  • Skin(4.3)
  • Spleen(4)
  • Eye(3.6)
  • Muscle(2.6)
  • Heart(2.5)
  • Pancreas(2.5)
  • Gall bladder(2.4)
  • Stomach(2.3)
  • Lymph node(2.3)
  • Bone(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRKCSH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • ear
Thorax:
  • heart
Abdomen:
  • abdominal wall
  • biliary tract
  • kidney
  • liver
General:
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with PRKCSH: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PRKCSH Gene

Orthologs for PRKCSH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PRKCSH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PRKCSH 30 31
  • 93.4 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PRKCSH 30 31
  • 86.51 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PRKCSH 30 31
  • 85.8 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Prkcsh 30 17 31
  • 82.58 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Prkcsh 30
  • 82.48 (n)
Oppossum
(Monodelphis domestica)
 Mammalia PRKCSH 31
  • 68 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PRKCSH 31
  • 67 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PRKCSH 31
  • 63 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia prkcsh 30
  • 64.66 (n)
MGC75615 30
Zebrafish
(Danio rerio)
 Actinopterygii prkcsh 30 31
  • 64.07 (n)
 OneToOne
-- 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG6453 30 31 32
  • 51.67 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004609 30
  • 49.41 (n)
Worm
(Caenorhabditis elegans)
 Secernentea CELE_ZK1307.8 30
  • 47.31 (n)
ZK1307.8 31
  • 34 (a)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes GTB1 31
  • 18 (a)
 OneToOne
Rice
(Oryza sativa)
 Liliopsida Os.6899 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.2522 31
  • 37 (a)
 OneToMany
CSA.7249 31
  • 26 (a)
 OneToMany
Species where no ortholog for PRKCSH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PRKCSH Gene

ENSEMBL:
Gene Tree for PRKCSH (if available)
TreeFam:
Gene Tree for PRKCSH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRKCSH: view image

Paralogs for PRKCSH Gene

Paralogs for PRKCSH Gene

genes like me logo Genes that share paralogs with PRKCSH: view

Variants for PRKCSH Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRKCSH Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
888605 Likely Benign: Polycystic liver disease 1 11,448,918(+) G/A
NM_001289104.2(PRKCSH):c.1291G>A (p.Val431Ile) 		MISSENSE
888606 Uncertain Significance: Polycystic liver disease 1 11,449,109(+) C/T
NM_001289104.2(PRKCSH):c.1395C>T (p.Asp465=) 		SYNONYMOUS
888607 Benign: Polycystic liver disease 1 11,449,274(+) C/T
NM_001289104.2(PRKCSH):c.1470C>T (p.Leu490=) 		SYNONYMOUS
889614 Benign: Polycystic liver disease 1 11,445,468(+) C/T
NM_001289104.2(PRKCSH):c.678C>T (p.Asp226=) 		SYNONYMOUS
889615 Uncertain Significance: Polycystic liver disease 1 11,446,273(+) G/A
NM_001289104.2(PRKCSH):c.685G>A (p.Val229Ile) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PRKCSH Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PRKCSH Gene

Variant ID Type Subtype PubMed ID
esv3556031 CNV deletion 23714750
nsv519802 CNV loss 19592680
nsv833752 CNV loss 17160897

Variation tolerance for PRKCSH Gene

Residual Variation Intolerance Score: 39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.60; 96.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRKCSH Gene

Human Gene Mutation Database (HGMD)
PRKCSH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRKCSH

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRKCSH Gene

Disorders for PRKCSH Gene

MalaCards: The human disease database

(14) MalaCards diseases for PRKCSH Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GLU2B_HUMAN
  • Polycystic liver disease 1 with or without kidney cysts (PCLD1) [MIM:174050]: An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease. {ECO:0000269 PubMed:12529853, ECO:0000269 PubMed:12577059, ECO:0000269 PubMed:28375157}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PRKCSH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PRKCSH: view

No data available for Genatlas for PRKCSH Gene

Publications for PRKCSH Gene

  1. Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. (PMID: 12529853) Li A … Somlo S (American journal of human genetics 2003) 2 3 4 23
  2. Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. (PMID: 12577059) Drenth JP … Jansen JB (Nature genetics 2003) 3 4 23 74
  3. PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease. (PMID: 19308730) Yang AM … Yang WS (Digestive diseases and sciences 2010) 3 23 41
  4. Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. (PMID: 16835903) Waanders E … Drenth JP (Human mutation 2006) 3 23 41
  5. A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group. (PMID: 9043864) Ophoff RA … Frants RR (European journal of human genetics : EJHG 1996) 3 4 23

ExternalLinks

View latest publications for PRKCSH gene in Mastermind

Products for PRKCSH Gene

Sources for PRKCSH Gene