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Aliases for CWH43 Gene

Aliases for CWH43 Gene

  • Cell Wall Biogenesis 43 C-Terminal Homolog 2 3 5
  • Cell Wall Biogenesis Protein 43 C-Terminal Homolog 3 4
  • Cell Wall Biogenesis 43 C-Terminal Homolog (S. Cerevisiae) 2
  • PGAP2-Interacting Protein 3
  • CWH43-C 3
  • PGAP2IP 4

External Ids for CWH43 Gene

Previous GeneCards Identifiers for CWH43 Gene

  • GC04P048684
  • GC04P048308

Summaries for CWH43 Gene

GeneCards Summary for CWH43 Gene

CWH43 (Cell Wall Biogenesis 43 C-Terminal Homolog) is a Protein Coding gene.

UniProtKB/Swiss-Prot for CWH43 Gene

  • Involved in lipid remodeling during GPI-anchor maturation.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CWH43 Gene

Genomics for CWH43 Gene

Regulatory Elements for CWH43 Gene

Enhancers for CWH43 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G048953 1.2 Ensembl ENCODE dbSUPER 11.1 -31.2 -31219 2.3 NFIB NFRKB ZSCAN4 TEAD4 RELA CTBP1 GATA3 FOS RCOR1 NR4A1 OCIAD2 CWH43 OCIAD1 GC04M048853
GH04G048944 1.1 Ensembl ENCODE dbSUPER 10.7 -41.4 -41429 1.4 CTCF CBX3 PKNOX1 SCRT2 IKZF1 BACH1 ZNF384 RAD21 OCIAD2 CWH43 OCIAD1-AS1 OCIAD1 GC04M048853 ENSG00000251334
GH04G048948 0.8 ENCODE dbSUPER 14.2 -36.5 -36454 2.4 JUND ZNF133 CREB1 ATF2 CWH43 OCIAD1 GC04M048853 ENSG00000251334
GH04G048968 0.9 ENCODE dbSUPER 7.3 -16.6 -16604 3.1 BHLHE40 CEBPB CEBPG DPF2 JUND ZNF316 ATF3 ZNF629 FOS NFE2 FRYL OCIAD2 OCIAD1-AS1 CWH43 GC04M048853
GH04G048697 1.5 Ensembl ENCODE dbSUPER 3.9 -286.6 -286598 4.5 PKNOX1 FOXA2 ATF1 ARNT YY1 TCF12 ZNF121 GATA2 FOS MAFF OCIAD1 SLC10A4 CWH43 GC04P048658 FRYL
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CWH43 on UCSC Golden Path with GeneCards custom track

Genomic Location for CWH43 Gene

Chromosome:
4
Start:
48,986,247 bp from pter
End:
49,062,081 bp from pter
Size:
75,835 bases
Orientation:
Plus strand

Genomic View for CWH43 Gene

Genes around CWH43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CWH43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CWH43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CWH43 Gene

Proteins for CWH43 Gene

  • Protein details for CWH43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H720-PG2IP_HUMAN
    Recommended name:
    PGAP2-interacting protein
    Protein Accession:
    Q9H720
    Secondary Accessions:
    • B2RPD7

    Protein attributes for CWH43 Gene

    Size:
    699 amino acids
    Molecular mass:
    78584 Da
    Quaternary structure:
    • Interacts with PGAP2/FRAG1.

neXtProt entry for CWH43 Gene

Post-translational modifications for CWH43 Gene

  • Glycosylation at Asn455
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CWH43 Gene

Domains & Families for CWH43 Gene

Protein Domains for CWH43 Gene

Suggested Antigen Peptide Sequences for CWH43 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H720

UniProtKB/Swiss-Prot:

PG2IP_HUMAN :
  • Belongs to the PGAP2IP family.
Family:
  • Belongs to the PGAP2IP family.
genes like me logo Genes that share domains with CWH43: view

No data available for Gene Families for CWH43 Gene

Function for CWH43 Gene

Molecular function for CWH43 Gene

UniProtKB/Swiss-Prot Function:
Involved in lipid remodeling during GPI-anchor maturation.
genes like me logo Genes that share phenotypes with CWH43: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CWH43 Gene

Localization for CWH43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CWH43 Gene

Membrane; Multi-pass membrane protein.

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 CWH43 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for CWH43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CWH43: view

Pathways & Interactions for CWH43 Gene

SuperPathways for CWH43 Gene

No Data Available

Interacting Proteins for CWH43 Gene

Gene Ontology (GO) - Biological Process for CWH43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process IEA --
genes like me logo Genes that share ontologies with CWH43: view

No data available for Pathways by source and SIGNOR curated interactions for CWH43 Gene

Drugs & Compounds for CWH43 Gene

No Compound Related Data Available

Transcripts for CWH43 Gene

Unigene Clusters for CWH43 Gene

Cell wall biogenesis 43 C-terminal homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CWH43 Gene

No ASD Table

Relevant External Links for CWH43 Gene

GeneLoc Exon Structure for
CWH43
ECgene alternative splicing isoforms for
CWH43

Expression for CWH43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CWH43 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CWH43 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x10.1), Esophagus - Mucosa (x9.2), Skin - Not Sun Exposed (Suprapubic) (x9.1), and Colon - Transverse (x5.5).

Protein differential expression in normal tissues from HIPED for CWH43 Gene

This gene is overexpressed in Plasma (67.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CWH43 Gene



Protein tissue co-expression partners for CWH43 Gene

NURSA nuclear receptor signaling pathways regulating expression of CWH43 Gene:

CWH43

SOURCE GeneReport for Unigene cluster for CWH43 Gene:

Hs.479703

Evidence on tissue expression from TISSUES for CWH43 Gene

  • Intestine(4.2)
genes like me logo Genes that share expression patterns with CWH43: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CWH43 Gene

Orthologs for CWH43 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CWH43 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CWH43 34 35
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia CWH43 34 35
  • 87.5 (n)
cow
(Bos Taurus)
Mammalia CWH43 34 35
  • 87.32 (n)
mouse
(Mus musculus)
Mammalia Cwh43 34 16 35
  • 82.4 (n)
rat
(Rattus norvegicus)
Mammalia Cwh43 34
  • 82.16 (n)
chicken
(Gallus gallus)
Aves CWH43 34 35
  • 70.73 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A11132g 34
  • 44.13 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CWH43 34 35 37
  • 44.1 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL043W 34
  • 41.37 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC589.12 34
  • 42.81 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05895 34
  • 42.32 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9941 34
Species where no ortholog for CWH43 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CWH43 Gene

ENSEMBL:
Gene Tree for CWH43 (if available)
TreeFam:
Gene Tree for CWH43 (if available)

Paralogs for CWH43 Gene

No data available for Paralogs for CWH43 Gene

Variants for CWH43 Gene

Sequence variations from dbSNP and Humsavar for CWH43 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000098593 -- 49,027,935(+) GGGCT(G/T)TGCTC intron-variant
rs1000207297 -- 49,061,168(+) TAGCT(C/T)TAGAA intron-variant
rs1000214681 -- 48,992,931(+) ATAGT(A/G)GAAGA intron-variant
rs1000273267 -- 48,986,202(+) TCTGG(C/G)AGGCG upstream-variant-2KB
rs1000295461 -- 49,027,440(+) AAAAG(A/G)ATAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CWH43 Gene

Variant ID Type Subtype PubMed ID
dgv5204n100 CNV gain 25217958
dgv5205n100 CNV gain 25217958
esv2759251 CNV gain+loss 17122850
esv3600473 CNV loss 21293372
esv3600474 CNV loss 21293372
esv3893921 CNV gain 25118596
nsv1001526 CNV gain 25217958
nsv1006591 CNV loss 25217958
nsv1010381 CNV gain 25217958
nsv1011910 CNV gain 25217958
nsv1073757 CNV deletion 25765185
nsv1074711 CNV deletion 25765185
nsv1112502 CNV deletion 24896259
nsv1112503 CNV deletion 24896259
nsv1148892 CNV deletion 26484159
nsv1151938 CNV deletion 26484159
nsv1161082 CNV duplication 26073780
nsv1161083 CNV duplication 26073780
nsv428442 CNV loss 18775914
nsv441875 CNV loss 18776908
nsv594138 CNV gain 21841781
nsv967743 CNV duplication 23825009

Variation tolerance for CWH43 Gene

Residual Variation Intolerance Score: 5.79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.87; 97.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CWH43 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CWH43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CWH43 Gene

Disorders for CWH43 Gene

Relevant External Links for CWH43

Genetic Association Database (GAD)
CWH43
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CWH43

No disorders were found for CWH43 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CWH43 Gene

Publications for CWH43 Gene

  1. Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy. (PMID: 22095909) Lange C.M. … Bochud P.Y. (Hepatology 2012) 3 46 64
  2. CWH43 is required for the introduction of ceramides into GPI anchors in Saccharomyces cerevisiae. (PMID: 17714445) Ghugtyal V. … Conzelmann A. (Mol. Microbiol. 2007) 2 3 64
  3. Saccharomyces cerevisiae CWH43 is involved in the remodeling of the lipid moiety of GPI anchors to ceramides. (PMID: 17761529) Umemura M. … Jigami Y. (Mol. Biol. Cell 2007) 2 3 64
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 4 64

Products for CWH43 Gene

Sources for CWH43 Gene

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