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Aliases for CHST8 Gene

Aliases for CHST8 Gene

  • Carbohydrate Sulfotransferase 8 2 3 5
  • Carbohydrate (N-Acetylgalactosamine 4-0) Sulfotransferase 8 2 3
  • N-Acetylgalactosamine-4-O-Sulfotransferase 1 3 4
  • GalNAc-4-O-Sulfotransferase 1 3 4
  • GALNAC-4-ST1 3 4
  • GalNAc4ST-1 3 4
  • GALNAC4ST1 3
  • EC 2.8.2.- 4
  • GalNAc4ST 3
  • PSS3 3

External Ids for CHST8 Gene

Previous GeneCards Identifiers for CHST8 Gene

  • GC19P034730
  • GC19P034561
  • GC19P038788
  • GC19P038804
  • GC19P038867
  • GC19P034112
  • GC19P030612

Summaries for CHST8 Gene

Entrez Gene Summary for CHST8 Gene

  • The protein encoded by this gene belongs to the sulfotransferase 2 family. It is predominantly expressed in the pituitary gland, and is localized to the golgi membrane. This protein catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. It is responsible for sulfation of GalNAc on luteinizing hormone (LH), which is required for production of the sex hormones. Mice lacking this enzyme, exhibit increased levels of circulating LH, and precocious sexual maturation of both male and female mice. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

GeneCards Summary for CHST8 Gene

CHST8 (Carbohydrate Sulfotransferase 8) is a Protein Coding gene. Diseases associated with CHST8 include Peeling Skin Syndrome 3 and Peeling Skin Syndrome. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and N-acetylgalactosamine 4-O-sulfotransferase activity. An important paralog of this gene is CHST9.

UniProtKB/Swiss-Prot for CHST8 Gene

  • Catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Required for biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures. Only active against terminal GalNAcbeta1,GalNAcbeta. Not active toward chondroitin.

Additional gene information for CHST8 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHST8 Gene

Genomics for CHST8 Gene

GeneHancer (GH) Regulatory Elements for CHST8 Gene

Promoters and enhancers for CHST8 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
GH19I033621 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 -0.1 -54 0.6 KLF17 ZNF76 ZEB1 ZNF335 ZNF121 GLIS2 SCRT2 ZNF350 ZNF391 EGR2 CHST8 GPATCH1 CEP89 LSM14A RPL21P131
GH19I033685 Promoter 1 EPDnew 550.2 +62.6 62566 0.1 ZNF449 KLF17 MZF1 SIN3A ZIC2 ZSCAN9 ZNF143 ZNF600 ZBTB20 EGR2 CHST8 GC19M033634 GC19P033749
GH19I033677 Promoter 0.8 EPDnew 550.2 +55.6 55573 0.1 ZFP69B ZBTB48 ZNF692 RCOR1 ZIC2 CHD2 ZBTB17 CHST8 GC19M033634 GC19P033749
GH19I033388 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.9 -228.6 -228635 10.5 FOXA2 MLX ZFP64 ARID4B FEZF1 DMAP1 YY1 SLC30A9 SP5 NFYC CEP89 GPATCH1 LSM14A PDCD5 ENSG00000267219 CHST8 PEPD WDR88 KIAA0355 CEBPG
GH19I033401 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.8 -218.1 -218082 4 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 SLC30A9 GLIS2 RXRA CEBPG CHST8 GPATCH1 CEP89 LSM14A PEPD CEBPA GC19P033418
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CHST8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHST8 gene promoter:

Genomic Locations for CHST8 Gene

Genomic Locations for CHST8 Gene
151,555 bases
Plus strand

Genomic View for CHST8 Gene

Genes around CHST8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHST8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHST8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHST8 Gene

Proteins for CHST8 Gene

  • Protein details for CHST8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Carbohydrate sulfotransferase 8
    Protein Accession:
    Secondary Accessions:
    • Q9H3N2

    Protein attributes for CHST8 Gene

    424 amino acids
    Molecular mass:
    48834 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CHST8 Gene

Post-translational modifications for CHST8 Gene

  • Glycosylation at Ser80, Asn128, posLast=294294, posLast=367367, and Asn415

No data available for DME Specific Peptides for CHST8 Gene

Domains & Families for CHST8 Gene

Gene Families for CHST8 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for CHST8 Gene

Suggested Antigen Peptide Sequences for CHST8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the sulfotransferase 2 family.
  • Belongs to the sulfotransferase 2 family.
genes like me logo Genes that share domains with CHST8: view

Function for CHST8 Gene

Molecular function for CHST8 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=10 uM for carbonic anhydrase VI {ECO:0000269 PubMed:11001942}; pH dependence: Optimum pH is 7.2. {ECO:0000269 PubMed:11001942};
UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Required for biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures. Only active against terminal GalNAcbeta1,GalNAcbeta. Not active toward chondroitin.
UniProtKB/Swiss-Prot Induction:
Down-regulated (17-fold) in prion-infected cells.

Enzyme Numbers (IUBMB) for CHST8 Gene

Phenotypes From GWAS Catalog for CHST8 Gene

Gene Ontology (GO) - Molecular Function for CHST8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001537 N-acetylgalactosamine 4-O-sulfotransferase activity TAS --
GO:0008146 sulfotransferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with CHST8: view
genes like me logo Genes that share phenotypes with CHST8: view

Human Phenotype Ontology for CHST8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHST8 Gene

MGI Knock Outs for CHST8:

miRNA for CHST8 Gene

miRTarBase miRNAs that target CHST8

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CHST8 Gene

Localization for CHST8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHST8 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

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 CHST8 gene
Compartment Confidence
golgi apparatus 5
extracellular 2
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CHST8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 10988300
genes like me logo Genes that share ontologies with CHST8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHST8 Gene

Pathways & Interactions for CHST8 Gene

genes like me logo Genes that share pathways with CHST8: view

Gene Ontology (GO) - Biological Process for CHST8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006790 sulfur compound metabolic process IDA 11445554
GO:0007417 central nervous system development NAS 10988300
GO:0016051 carbohydrate biosynthetic process IEA --
GO:0030166 proteoglycan biosynthetic process IDA 10988300
genes like me logo Genes that share ontologies with CHST8: view

No data available for SIGNOR curated interactions for CHST8 Gene

Drugs & Compounds for CHST8 Gene

No Compound Related Data Available

Transcripts for CHST8 Gene

Unigene Clusters for CHST8 Gene

Carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHST8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c
SP1: - -
SP2: - - -
SP3: -
SP4: - -

Relevant External Links for CHST8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CHST8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHST8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHST8 Gene

This gene is overexpressed in Pituitary (x19.7).

Protein differential expression in normal tissues from HIPED for CHST8 Gene

This gene is overexpressed in Heart (64.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CHST8 Gene

Protein tissue co-expression partners for CHST8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CHST8 Gene:


SOURCE GeneReport for Unigene cluster for CHST8 Gene:


mRNA Expression by UniProt/SwissProt for CHST8 Gene:

Tissue specificity: Predominantly expressed in pituitary gland. In brain, it is expressed in pituitary gland, cerebellum, medulla oblongata, pons, thalamus and spinal cord. Expressed in the epidermis. Expressed at lower level in lung, spleen, adrenal gland, placenta, prostate, testis, mammary gland and trachea.

Evidence on tissue expression from TISSUES for CHST8 Gene

  • Muscle(4.2)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHST8 Gene

Germ Layers:
  • ectoderm
  • integumentary
  • skin
genes like me logo Genes that share expression patterns with CHST8: view

Orthologs for CHST8 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHST8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CHST8 33 34
  • 99.37 (n)
(Canis familiaris)
Mammalia CHST8 33 34
  • 88.29 (n)
(Bos Taurus)
Mammalia CHST8 33 34
  • 87.74 (n)
(Rattus norvegicus)
Mammalia Chst8 33
  • 83.89 (n)
(Mus musculus)
Mammalia Chst8 33 16 34
  • 83.09 (n)
(Ornithorhynchus anatinus)
Mammalia CHST8 34
  • 63 (a)
(Gallus gallus)
Aves CHST8 33 34
  • 66.34 (n)
(Anolis carolinensis)
Reptilia CHST8 34
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia chst8 33
  • 61.18 (n)
(Danio rerio)
Actinopterygii CHST8 (2 of 2) 34
  • 71 (a)
chst8 33 34
  • 64.58 (n)
wufj18f04 33
fruit fly
(Drosophila melanogaster)
Insecta CG13937 34
  • 22 (a)
CG14024 34
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
-- 34
  • 26 (a)
-- 34
  • 24 (a)
-- 34
  • 24 (a)
-- 34
  • 21 (a)
Species where no ortholog for CHST8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for CHST8 Gene

Gene Tree for CHST8 (if available)
Gene Tree for CHST8 (if available)

Paralogs for CHST8 Gene

Paralogs for CHST8 Gene

(5) SIMAP similar genes for CHST8 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CHST8: view

Variants for CHST8 Gene

Sequence variations from dbSNP and Humsavar for CHST8 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs149660944 pathogenic, Peeling skin syndrome 3, Peeling skin syndrome 3 (PSS3) [MIM:616265] 33,772,017(+) C/A/T coding_sequence_variant, missense_variant, synonymous_variant
VAR_036538 A colorectal cancer sample p.Arg247His
rs1000016736 -- 33,633,764(+) TTTT/TT genic_upstream_transcript_variant, intron_variant
rs1000027547 -- 33,764,315(+) C/A intron_variant
rs1000040989 -- 33,672,595(+) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CHST8 Gene

Variant ID Type Subtype PubMed ID
nsv953278 CNV deletion 24416366
nsv833809 CNV loss 17160897
nsv579329 CNV loss 21841781
nsv579326 CNV gain 21841781
nsv509736 CNV insertion 20534489
nsv507894 OTHER sequence alteration 20534489
nsv477728 CNV novel sequence insertion 20440878
nsv1121978 CNV deletion 24896259
nsv1118617 CNV duplication 24896259
nsv1077341 CNV duplication 25765185
nsv1071530 CNV deletion 25765185
nsv1065649 CNV gain 25217958
esv3644193 CNV gain 21293372
esv33416 CNV loss 17666407
esv2758755 CNV gain 17122850
esv2718479 CNV deletion 23290073
esv2718478 CNV deletion 23290073
esv2718477 CNV deletion 23290073
esv23382 CNV loss 19812545
esv1700346 CNV insertion 17803354
esv1416262 CNV deletion 17803354
dgv6406n54 CNV gain 21841781
dgv6405n54 CNV gain+loss 21841781
dgv6404n54 CNV gain 21841781
dgv3514n100 CNV gain 25217958
dgv139e55 CNV gain 17911159

Variation tolerance for CHST8 Gene

Residual Variation Intolerance Score: 26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHST8 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHST8 Gene

Disorders for CHST8 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CHST8 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peeling skin syndrome 3
  • pss3
peeling skin syndrome
  • exfoliation syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CHST8 in MalaCards View complete list of genes associated with diseases


  • Peeling skin syndrome 3 (PSS3) [MIM:616265]: A form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS3 is characterized by generalized white scaling occurring over the upper and lower extremities. Symptoms start during the second half of the first decade of life. {ECO:0000269 PubMed:22289416}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CHST8

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CHST8: view

No data available for Genatlas for CHST8 Gene

Publications for CHST8 Gene

  1. Molecular cloning and expression of the pituitary glycoprotein hormone N-acetylgalactosamine-4-O-sulfotransferase. (PMID: 10988300) Xia G … Baenziger JU (The Journal of biological chemistry 2000) 2 3 4 58
  2. Molecular cloning and characterization of GalNAc 4-sulfotransferase expressed in human pituitary gland. (PMID: 11001942) Okuda T … Habuchi O (The Journal of biological chemistry 2000) 2 3 4 58
  3. Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. (PMID: 22289416) Cabral RM … Christiano AM (Genomics 2012) 3 4 58
  4. Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. (PMID: 21107309) McClay JL … van den Oord EJ (Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2011) 3 44 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for CHST8 Gene

Sources for CHST8 Gene

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