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Aliases for CHPF Gene

Aliases for CHPF Gene

  • Chondroitin Polymerizing Factor 2 3 5
  • Glucuronosyl-N-Acetylgalactosaminyl-Proteoglycan 4-Beta-N-Acetylgalactosaminyltransferase II 3 4
  • N-Acetylgalactosaminyl-Proteoglycan 3-Beta-Glucuronosyltransferase II 3 4
  • Chondroitin Glucuronyltransferase 2 3 4
  • N-Acetylgalactosaminyltransferase 2 3 4
  • Chondroitin Sulfate Synthase 2 2 3
  • CSS2 3 4
  • Chondroitin-Polymerizing Factor 4
  • EC 2.4.1.175 4
  • EC 2.4.1.226 4
  • CHSY2 3
  • 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. Among its related pathways are Chondroitin sulfate/dermatan sulfate 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 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

Additional gene information for CHPF Gene

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

Genomics for CHPF Gene

GeneHancer (GH) Regulatory Elements for CHPF Gene

Promoters and enhancers for CHPF 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
GH02J219541 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 -0.4 -402 5.1 MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 CHPF TMEM198 ASIC4 OBSL1 INHA ENSG00000268896
GH02J219683 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 11.6 -143.9 -143888 7.4 PKNOX1 ARID4B SIN3A ZNF143 RUNX3 SP3 CAVIN1 GTF2B NFYC REST OBSL1 CHPF TMEM198 SLC4A3 ENSG00000228973 DNPEP DNAJB2 ATG9A LOC101059990 LOC105373886
GH02J219641 Enhancer 1.4 Ensembl ENCODE dbSUPER 12.1 -98.7 -98663 1.7 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 E2F8 ZNF207 ZNF143 DNPEP NHEJ1 OBSL1 TMEM198 CHPF ENSG00000267919 GC02M219631 SLC4A3
GH02J219574 Enhancer 1.2 ENCODE dbSUPER 12.3 -32.5 -32545 3.6 PKNOX1 FOXA2 ARNT MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 ETS1 INHA CHPF TMEM198 ENSG00000228973 SLC4A3 OBSL1 ASIC4 GMPPA RN7SKP213
GH02J219397 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.9 +144.8 144759 3.7 PKNOX1 ATF1 FOXA2 FEZF1 YY1 ATF7 FOS RXRA REST ZNF592 DNPEP OBSL1 ENSG00000269068 ENSG00000268896 ASIC4 ENSG00000227432 ENSG00000268603 SPEG GMPPA CHPF
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for CHPF Gene

Genomic Locations for CHPF Gene
chr2:219,538,947-219,543,787
(GRCh38/hg38)
Size:
4,841 bases
Orientation:
Minus strand
chr2:220,403,669-220,408,509
(GRCh37/hg19)
Size:
4,841 bases
Orientation:
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:
    Q8IZ52-CHSS2_HUMAN
    Recommended name:
    Chondroitin sulfate synthase 2
    Protein Accession:
    Q8IZ52
    Secondary Accessions:
    • B4DXU0
    • Q6UXD6
    • Q7L4G1
    • Q9H0F8
    • Q9H618

    Protein attributes for CHPF Gene

    Size:
    775 amino acids
    Molecular mass:
    85467 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for CHPF Gene

Post-translational modifications for CHPF Gene

  • Glycosylation at posLast=361361 and Asn138
  • Modification sites at PhosphoSitePlus

Other Protein References for CHPF Gene

No data available for DME Specific Peptides for CHPF Gene

Domains & Families for CHPF Gene

Gene Families for CHPF Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CHPF Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHPF Gene

Graphical View of Domain Structure for InterPro Entry

Q8IZ52

UniProtKB/Swiss-Prot:

CHSS2_HUMAN :
  • Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
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:
UDP-N-acetyl-alpha-D-galactosamine + [protein]-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-serine = UDP + [protein]-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-serine.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-galactosamine + [protein]-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-serine = UDP + [protein]-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-serine.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-glucuronate + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan.

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 --
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 TAS --
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<tm1.2Hwat>
  • Chpf Chpf<tm1Lex>

Animal Model Products

  • Taconic Biosciences Mouse Models for CHPF

Clone Products

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

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 CHPF gene
Compartment Confidence
golgi apparatus 5
mitochondrion 4
cytosol 4
extracellular 2
cytoskeleton 2
plasma membrane 1
endoplasmic reticulum 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 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
Manganese Approved Nutra 37
UDP-alpha-D-glucuronic acid Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0
Cobalt Pharma 174

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Lactosamine
  • 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
13000-25-4
UDP-N-acetyl-alpha-D-galactosamine
  • (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)
  • 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)
  • UDP-N-Acetyl-a-D-galactosamine
  • UDP-N-Acetyl-α-D-galactosamine
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
  • Uridine 5'-diphospho-N-acetylgalactosamine
  • Uridine diphosphate-N-acetyl-D-galactosamine
7277-98-7
genes like me logo Genes that share compounds with CHPF: view

Transcripts for CHPF Gene

mRNA/cDNA for CHPF Gene

Unigene Clusters for CHPF Gene

Chondroitin polymerizing factor:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for CHPF Gene

GeneLoc Exon Structure for
CHPF
ECgene alternative splicing isoforms for
CHPF

Expression for CHPF Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of CHPF Gene:

CHPF

SOURCE GeneReport for Unigene cluster for CHPF Gene:

Hs.516711

mRNA Expression by UniProt/SwissProt for CHPF Gene:

Q8IZ52-CHSS2_HUMAN
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)
  • Intestine(4.2)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with CHPF: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
chimpanzee
(Pan troglodytes)
Mammalia CHPF 34 33
  • 99.1 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CHPF 34 33
  • 90.19 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CHPF 33
  • 89.39 (n)
mouse
(Mus musculus)
Mammalia Chpf 16 34 33
  • 87.04 (n)
rat
(Rattus norvegicus)
Mammalia Chpf 33
  • 86.88 (n)
oppossum
(Monodelphis domestica)
Mammalia CHPF 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 14 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CHPF 33
  • 70.76 (n)
-- 34
  • 62 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia chpf 33
  • 65.85 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6761 33
zebrafish
(Danio rerio)
Actinopterygii chpfa 33
  • 58.65 (n)
chpf2 34
  • 51 (a)
OneToMany
Dr.13607 33
fruit fly
(Drosophila melanogaster)
Insecta CG43313 34 33
  • 46.17 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001050 33
  • 40.79 (n)
worm
(Caenorhabditis elegans)
Secernentea mig-22 34 33
  • 40.43 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5086 34
  • 36 (a)
OneToMany
Species where no ortholog for CHPF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

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

Paralogs for CHPF Gene

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

  • CHSS2_HUMAN
  • F8W6H2_HUMAN
genes like me logo Genes that share paralogs with CHPF: view

Variants for CHPF Gene

Sequence variations from dbSNP and Humsavar for CHPF Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000457868 -- 219,544,407(-) G/T upstream_transcript_variant
rs1001738725 -- 219,544,056(-) C/T upstream_transcript_variant
rs1002212562 -- 219,540,330(-) T/C coding_sequence_variant, missense_variant
rs1002483823 -- 219,542,673(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1003686159 -- 219,542,784(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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
CHPF

SNP Genotyping and Copy Number Assay Products

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

Disorders for CHPF Gene

Additional Disease Information for CHPF

No disorders were found for CHPF Gene.

No data available for MalaCards , 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 58
  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 58
  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 58
  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 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for CHPF Gene

Sources for CHPF Gene

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