Aliases for CHPF Gene

Aliases for CHPF Gene

  • Chondroitin Polymerizing Factor 2 3 5
  • Chondroitin Sulfate Synthase 2 2 3 4
  • CSS2 2 3 4
  • Glucuronosyl-N-Acetylgalactosaminyl-Proteoglycan 4-Beta-N-Acetylgalactosaminyltransferase II 3 4
  • N-Acetylgalactosaminyl-Proteoglycan 3-Beta-Glucuronosyltransferase II 3 4
  • N-Acetylgalactosaminyltransferase 2 3 4
  • Chondroitin Glucuronyltransferase 2 3 4
  • CHSY2 2 3
  • Chondroitin-Polymerizing Factor 4
  • EC 4
  • EC 4
  • CHPF 5
  • ChPF 4

External Ids for CHPF Gene

Previous GeneCards Identifiers for CHPF Gene

  • GC02M220367
  • GC02M220606
  • GC02M220229
  • GC02M220111
  • GC02M212256

Summaries for CHPF Gene

GeneCards Summary for CHPF Gene

CHPF (Chondroitin Polymerizing Factor) is a Protein Coding gene. Diseases associated with CHPF include Breast Pericanalicular Fibroadenoma and Coffin-Siris Syndrome 1. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is CHPF2.

UniProtKB/Swiss-Prot Summary for CHPF Gene

  • Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Isoform 2 may facilitate PRKN transport into the mitochondria. In collaboration with PRKN, isoform 2 may enhance cell viability and protect cells from oxidative stress.

Gene Wiki entry for CHPF Gene

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

Genomics for CHPF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CHPF Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J219541 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.4 -371 5.2 SP1 ZNF207 ZNF654 MYC ZNF600 JUND ZNF580 ZNF592 ZMYM3 ATF2 CHPF TMEM198 ASIC4 ZNF142 OBSL1 RNF25 INHA STK36 ENSG00000268896
GH02J219683 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 -143.9 -143866 7.4 ZNF654 ZNF600 ZNF592 POLR2A CTCF REST SMAD5 TRIM22 CHD2 TBP OBSL1 CHPF TMEM198 SLC4A3 ENSG00000228973 DNPEP DNAJB2 ATG9A DNAJB6P3 LINC02832
GH02J219574 Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.3 -33.4 -33358 5.2 ZNF600 SSRP1 KLF9 CEBPA POLR2A CHD4 MXD4 CEBPB FOXA1 KLF11 INHA GMPPA SLC23A3 BCS1L NHEJ1 CHPF TMEM198 ENSG00000228973 SLC4A3 ANKZF1
GH02J219641 Enhancer 1.4 Ensembl ENCODE dbSUPER 12.1 -100.3 -100288 5 BCLAF1 ZNF207 MYC ZNF654 IKZF1 ZNF600 SSRP1 JUND ZNF592 ATF2 ENSG00000267919 OBSL1 NHEJ1 TMEM198 CHPF INHA ASIC4 ASIC4-AS1 DNPEP CYP27A1
GH02J219682 Enhancer 0.6 Ensembl ENCODE 11.2 -138.3 -138292 1.8 ZMYM3 FOS IKZF1 SCRT2 OBSL1 TMEM198 CHPF INHA DNPEP STK11IP lnc-OBSL1-7 lnc-OBSL1-6 SLC4A3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the CHPF gene promoter:
  • GATA-1
  • GR
  • GR-alpha
  • GR-beta
  • HSF2
  • Pax-5
  • PPAR-gamma2
  • RFX1
  • Spz1

Genomic Locations for CHPF Gene

Latest Assembly
4,862 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
4,856 bases
Minus strand

(GRCh37/hg19 by Ensembl)
4,841 bases
Minus strand

Genomic View for CHPF Gene

Genes around CHPF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CHPF Gene

Proteins for CHPF Gene

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

    Protein Symbol:
    Recommended name:
    Chondroitin sulfate synthase 2
    Protein Accession:
    Secondary Accessions:
    • B4DXU0
    • Q6UXD6
    • Q7L4G1
    • Q9H0F8
    • Q9H618

    Protein attributes for CHPF Gene

    775 amino acids
    Molecular mass:
    85467 Da
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Name=Co(2+); Xref=ChEBI:CHEBI:48828;
    Quaternary structure:
    • Binds CHSY1. Isoform 1, isoform 2 and isoform 3 interact with PRKN.

    Alternative splice isoforms for CHPF Gene


neXtProt entry for CHPF Gene

Post-translational modifications for CHPF Gene

  • Glycosylation at Asn138 and Asn361
  • Modification sites at PhosphoSitePlus

Other Protein References for CHPF Gene

Antibodies for research

  • Abcam antibodies for CHPF
  • Santa Cruz Biotechnology (SCBT) Antibodies for CHPF

No data available for DME Specific Peptides for CHPF Gene

Domains & Families for CHPF Gene

Gene Families for CHPF Gene

Protein Domains for CHPF Gene


Suggested Antigen Peptide Sequences for CHPF Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53626, highly similar to Chondroitin sulfate synthase 2 (EC (B4DXU0_HUMAN)
  • N-acetylgalactosaminyltransferase 2 (CHSS2_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
  • Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
genes like me logo Genes that share domains with CHPF: view

Function for CHPF Gene

Molecular function for CHPF Gene

UniProtKB/Swiss-Prot Function:
Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Isoform 2 may facilitate PRKN transport into the mitochondria. In collaboration with PRKN, isoform 2 may enhance cell viability and protect cells from oxidative stress.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-O-(beta-D-GlcA-(1->3)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O-(beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:20800, Rhea:RHEA-COMP:14058, Rhea:RHEA-COMP:14059, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:138442, ChEBI:CHEBI:138443; EC=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-O-(beta-D-GlcA-(1->3)-[beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)](n)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O-([beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)](n+1)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:55000, Rhea:RHEA-COMP:14060, Rhea:RHEA-COMP:14301, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:138444, ChEBI:CHEBI:138445; EC=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-O-(beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:23428, Rhea:RHEA-COMP:12575, Rhea:RHEA-COMP:14058, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:132105, ChEBI:CHEBI:138442; EC=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-O-([beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)](n)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta-D-GlcA-(1->3)-[beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)](n)-beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:54996, Rhea:RHEA-COMP:14060, Rhea:RHEA-COMP:14061, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:138444, ChEBI:CHEBI:138445; EC=;.

Enzyme Numbers (IUBMB) for CHPF Gene

Gene Ontology (GO) - Molecular Function for CHPF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008376 acetylgalactosaminyltransferase activity IEA,IBA 21873635
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0046872 metal ion binding IEA --
GO:0047238 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity IDA 12761225
genes like me logo Genes that share ontologies with CHPF: view
genes like me logo Genes that share phenotypes with CHPF: view

Animal Models for CHPF Gene

MGI Knock Outs for CHPF:
  • Chpf Chpf<tm1Lex>
  • Chpf Chpf<tm1b(EUCOMM)Hmgu>
  • Chpf Chpf<tm1.2Hwat>

Animal Models for research

  • Taconic Biosciences Mouse Models for CHPF

Inhibitory RNAs for research

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

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CHPF Gene

Localization for CHPF Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHPF Gene

[Isoform 1]: Golgi apparatus, Golgi stack membrane. Single-pass type II membrane protein. Cytoplasm, cytosol.
[Isoform 3]: Cytoplasm, cytosol. Mitochondrion.
[Isoform 2]: Mitochondrion matrix.

Subcellular locations from

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 CHPF gene
Compartment Confidence
golgi apparatus 5
cytosol 4
mitochondrion 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
nucleus 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Centrosome (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHPF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IEA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with CHPF: view

Pathways & Interactions for CHPF Gene

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

Gene Ontology (GO) - Biological Process for CHPF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030206 chondroitin sulfate biosynthetic process IDA,TAS --
genes like me logo Genes that share ontologies with CHPF: view

No data available for SIGNOR curated interactions for CHPF Gene

Drugs & Compounds for CHPF Gene

(6) Drugs for CHPF Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cobalt Approved, Experimental Pharma 212
Manganese Approved Nutra 65
UDP-alpha-D-glucuronic acid Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0

(3) Additional Compounds for CHPF Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 2-Amino-2-deoxy-4-O-beta-D-galactopyranosyl-D-glucose
  • 2-Amino-2-deoxy-4-O-beta-delta-galactopyranosyl-delta-glucose
  • beta-D-Galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
  • beta-D-Galactopyranosyl-(1->4)-D-glucosamine
  • beta-delta-Galactopyranosyl-(1->4)-2-amino-2-deoxy-delta-glucose
  • (2R,3R,4R,5R,6R)-3-(Acetylamino)-4,5-dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • UDP-GalNac
  • URIDINE-diphosphATE-N-acetylgalactosamine
  • (2R,3R,4R,5R,6R)-3-(Acetylamino)-4,5-dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphoric acid (non-preferred name)
  • URIDINE-diphosphoric acid-N-acetylgalactosamine
Uridine diphosphate-N-acetylgalactosamine
  • Uridine diphosphoric acid-N-acetylgalactosamine
  • N-[2-({[({[3,4-dihydroxy-5-(4-hydroxy-2-oxo-1,2-dihydropyrimidin-1-yl)oxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxy](hydroxy)phosphoryl}oxy)-4,5-dihydroxy-6-(hydroxymethyl)oxan-3-yl]ethanimidate
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
genes like me logo Genes that share compounds with CHPF: view

Transcripts for CHPF Gene

mRNA/cDNA for CHPF Gene

10 NCBI additional mRNA sequence :
3 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 CHPF

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

No ASD Table

Relevant External Links for CHPF Gene

GeneLoc Exon Structure for

Expression for CHPF Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for CHPF Gene

This gene is overexpressed in Breast (50.0) and Testis (7.0).

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

Protein tissue co-expression partners for CHPF Gene

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

SOURCE GeneReport for Unigene cluster for CHPF Gene:


mRNA Expression by UniProt/SwissProt for CHPF Gene:

Tissue specificity: Ubiquitous. Highly expressed in pancreas, ovary, brain, heart, skeletal muscle, colon, kidney, liver, stomach, spleen and placenta. Isoform 3 is also ubiquitous. Isoform 2 is expressed in brain, spleen, ovary, testis, lung and peripheral mononuclear cells.

Evidence on tissue expression from TISSUES for CHPF Gene

  • Nervous system(4.8)
  • Skin(4.7)
  • Muscle(4.4)
  • Intestine(4.3)
genes like me logo Genes that share expression patterns with CHPF: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHPF Gene

Orthologs for CHPF Gene

This gene was present in the common ancestor of animals.

Orthologs for CHPF Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CHPF 29 30
  • 99.1 (n)
(Bos Taurus)
Mammalia CHPF 29 30
  • 90.19 (n)
(Canis familiaris)
Mammalia CHPF 29
  • 89.39 (n)
(Mus musculus)
Mammalia Chpf 29 16 30
  • 87.04 (n)
(Rattus norvegicus)
Mammalia Chpf 29
  • 86.88 (n)
(Monodelphis domestica)
Mammalia CHPF 30
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 14 (a)
(Gallus gallus)
Aves CHPF 29
  • 70.76 (n)
-- 30
  • 62 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia chpf 29
  • 65.85 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6761 29
(Danio rerio)
Actinopterygii chpfa 29
  • 58.65 (n)
chpf2 30
  • 51 (a)
Dr.13607 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG43313 29 30
  • 46.17 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001050 29
  • 40.79 (n)
(Caenorhabditis elegans)
Secernentea mig-22 29 30
  • 40.43 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5086 30
  • 36 (a)
Species where no ortholog for CHPF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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 (Oryza sativa)
  • 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 CHPF Gene

Gene Tree for CHPF (if available)
Gene Tree for CHPF (if available)
Evolutionary constrained regions (ECRs) for CHPF: view image
Alliance of Genome Resources:
Additional Orthologs for CHPF

Paralogs for CHPF Gene

(1) SIMAP similar genes for CHPF Gene using alignment to 2 proteins:

  • F8W6H2_HUMAN
genes like me logo Genes that share paralogs with CHPF: view

Variants for CHPF Gene

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

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs114128742 Benign: not provided 219,539,614(-) C/T
NM_024536.6(CHPF):c.2097G>A (p.Glu699=)
rs61733622 Benign: not provided 219,543,397(-) A/G
NM_024536.6(CHPF):c.142T>C (p.Ser48Pro)
rs6436155 -- p.Gln371Arg

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

Variant ID Type Subtype PubMed ID
nsv482056 CNV gain 20164927
nsv508887 CNV insertion 20534489
nsv520958 CNV loss 19592680
nsv584502 CNV gain 21841781
nsv834545 CNV loss 17160897

Variation tolerance for CHPF Gene

Residual Variation Intolerance Score: 28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.37; 53.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHPF Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

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

Disorders for CHPF Gene

MalaCards: The human disease database

(8) MalaCards diseases for CHPF Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search CHPF in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CHPF

genes like me logo Genes that share disorders with CHPF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHPF Gene

Publications for CHPF Gene

  1. Molecular cloning of a chondroitin polymerizing factor that cooperates with chondroitin synthase for chondroitin polymerization. (PMID: 12716890) Kitagawa H … Sugahara K (The Journal of biological chemistry 2003) 2 3 4 22
  2. Chondroitin sulfate synthase-2. Molecular cloning and characterization of a novel human glycosyltransferase homologous to chondroitin sulfate glucuronyltransferase, which has dual enzymatic activities. (PMID: 12761225) Yada T … Kimata K (The Journal of biological chemistry 2003) 3 4 22
  3. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4
  4. Parkin interacts with Klokin1 for mitochondrial import and maintenance of membrane potential. (PMID: 22082830) Kuroda Y … Mitsui T (Human molecular genetics 2012) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for CHPF Gene

Sources for CHPF Gene