Aliases for CHST6 Gene
Aliases for CHST6 Gene
- Carbohydrate Sulfotransferase 6 2 3 3 5
- Galactose/N-Acetylglucosamine/N-Acetylglucosamine 6-O-Sulfotransferase 4-Beta 3 4
- Carbohydrate (N-Acetylglucosamine 6-O) Sulfotransferase 6 2 3
- Corneal N-Acetylglucosamine-6-O-Sulfotransferase 3 4
- N-Acetylglucosamine 6-O-Sulfotransferase 5 3 4
- GlcNAc6ST-5 3 4
- C-GlcNAc6ST 3 4
- GST4-Beta 3 4
External Ids for CHST6 Gene
- HGNC: 6938
- Entrez Gene: 4166
- Ensembl: ENSG00000183196
- OMIM: 605294
- UniProtKB: Q9GZX3
Previous HGNC Symbols for CHST6 Gene
- MCDC1
Previous GeneCards Identifiers for CHST6 Gene
- GC16M066440
- GC16M076471
- GC16M075245
- GC16M075286
- GC16M074064
- GC16M075508
- GC16M061258
Summaries for CHST6 Gene
-
The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]
GeneCards Summary for CHST6 Gene
CHST6 (Carbohydrate Sulfotransferase 6) is a Protein Coding gene. Diseases associated with CHST6 include Macular Dystrophy, Corneal and Corneal Dystrophy. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and N-acetylglucosamine 6-O-sulfotransferase activity. An important paralog of this gene is CHST5.
UniProtKB/Swiss-Prot for CHST6 Gene
-
Sulfotransferase that utilizes 3-phospho-5-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan. Mediates sulfation of keratan in cornea. Keratan sulfate plays a central role in maintaining corneal transparency. Acts on the non-reducing terminal GlcNAc of short and long carbohydrate substrates that have poly-N-acetyllactosamine structures.
Additional gene information for CHST6 Gene
- Monarch Initiative
- Search for CHST6 at DataMed
- Search for CHST6 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHST6 Gene
Genomics for CHST6 Gene
GeneHancer (GH) Regulatory Elements for CHST6 Gene
Promoters and enhancers for CHST6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CHST6 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CHST6 gene promoter:
Regulatory Element Products
Genomic Locations for CHST6 Gene
Genomic Locations for CHST6 Gene
- chr16:75,472,052-75,495,434
- (GRCh38/hg38)
- Size:
- 23,383 bases
- Orientation:
- Minus strand
- chr16:75,507,022-75,529,282
- (GRCh37/hg19)
Genomic View for CHST6 Gene
Genes around CHST6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16q23.1 by Entrez Gene
- 16q23.1 by HGNC
- 16q23.1 by Ensembl
CHST6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CHST6 Gene
Proteins for CHST6 Gene
-
Protein details for CHST6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9GZX3-CHST6_HUMAN
- Recommended name:
- Carbohydrate sulfotransferase 6
- Protein Accession:
- Q9GZX3
- D3DUK3
Protein attributes for CHST6 Gene
- Size:
- 395 amino acids
- Molecular mass:
- 44099 Da
- Quaternary structure:
- No Data Available
Protein Expression for CHST6 Gene
Post-translational modifications for CHST6 Gene
Other Protein References for CHST6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CHST6
- Invitrogen Antibodies for CHST6
- GeneTex CHST6 Antibody for CHST6
-
Boster Bio Antibodies for CHST6
Protein Products
- R&D Systems Proteins and Enzymes for CHST6 (Carbohydrate Sulfotransferase 6/CHST6)
-
OriGene Purified Proteins for CHST6
- Search Origene for MassSpec and Protein Over-expression Lysates for CHST6
- Origene Custom Protein Services for CHST6
- Novus Biologicals lysates for CHST6
- Search GeneTex for Proteins for CHST6
Assay Products
No data available for DME Specific Peptides for CHST6 Gene
Domains & Families for CHST6 Gene
Gene Families for CHST6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted secreted proteins
Protein Domains for CHST6 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CHST6 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9GZX3UniProtKB/Swiss-Prot:
CHST6_HUMAN :- Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily.
- Family:
-
- Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily.
Function for CHST6 Gene
Molecular function for CHST6 Gene
- UniProtKB/Swiss-Prot Function:
- Sulfotransferase that utilizes 3-phospho-5-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan. Mediates sulfation of keratan in cornea. Keratan sulfate plays a central role in maintaining corneal transparency. Acts on the non-reducing terminal GlcNAc of short and long carbohydrate substrates that have poly-N-acetyllactosamine structures.
Enzyme Numbers (IUBMB) for CHST6 Gene
Phenotypes From GWAS Catalog for CHST6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001517 | N-acetylglucosamine 6-O-sulfotransferase activity | TAS | 11181564 |
| GO:0008146 | sulfotransferase activity | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for CHST6 Gene
- MGI mutant phenotypes for CHST6:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CHST6:
Animal Models for CHST6 Gene
- MGI Knock Outs for CHST6:
-
- Chst5 Chst5<tm1Knsh>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CHST6
-
CRISPR Products
-
OriGene CRISPR knockouts for CHST6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHST6
- genomics-online: gRNA clones - Search results for 36 available CHST6 gene related products
- Overview of 36 available CHST6 gene related products
- Applied Biological Materials CRISPR for CHST6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHST6
- GenScript: Design CRISPR guide RNA sequences for CHST6
miRNA for CHST6 Gene
- miRTarBase miRNAs that target CHST6
-
- hsa-mir-335-5p (MIRT017806)
- hsa-mir-124-3p (MIRT022612)
- hsa-let-7c-5p (MIRT051817)
- hsa-mir-505-5p (MIRT513067)
- hsa-mir-4433a-3p (MIRT513068)
- hsa-mir-4459 (MIRT513069)
- hsa-mir-4768-3p (MIRT513070)
- hsa-mir-506-5p (MIRT513071)
- hsa-mir-575 (MIRT513072)
- hsa-mir-4676-5p (MIRT513073)
- hsa-mir-619-5p (MIRT517367)
- hsa-mir-5089-5p (MIRT517368)
- hsa-mir-6513-5p (MIRT517369)
- hsa-mir-6728-5p (MIRT517370)
- hsa-mir-769-3p (MIRT517371)
- hsa-mir-450b-3p (MIRT517372)
- hsa-mir-7151-3p (MIRT517373)
- hsa-mir-5095 (MIRT517374)
- hsa-mir-3973 (MIRT517375)
- hsa-mir-4438 (MIRT517376)
- hsa-mir-6504-3p (MIRT517377)
- hsa-mir-548l (MIRT517378)
- hsa-mir-640 (MIRT637540)
- hsa-mir-378a-5p (MIRT637541)
- hsa-mir-6821-3p (MIRT637542)
- hsa-mir-6790-3p (MIRT637543)
- hsa-mir-3653-5p (MIRT637544)
- hsa-mir-372-5p (MIRT637545)
- hsa-mir-371a-5p (MIRT637546)
- hsa-mir-616-5p (MIRT637547)
- hsa-mir-373-5p (MIRT637548)
- hsa-mir-371b-5p (MIRT637549)
- hsa-mir-6747-3p (MIRT637550)
- hsa-mir-8079 (MIRT637551)
- hsa-mir-6513-3p (MIRT637552)
- hsa-mir-1245a (MIRT637553)
- hsa-mir-5589-5p (MIRT647272)
- hsa-mir-4731-5p (MIRT647273)
- hsa-mir-5581-5p (MIRT647274)
- hsa-mir-4297 (MIRT647275)
- hsa-mir-4698 (MIRT647276)
- hsa-mir-3614-3p (MIRT647277)
- hsa-mir-4665-5p (MIRT694328)
- hsa-mir-1275 (MIRT694329)
- hsa-mir-7703 (MIRT694330)
- hsa-mir-6720-5p (MIRT694331)
- hsa-mir-6512-3p (MIRT694332)
- hsa-mir-5010-5p (MIRT694333)
- hsa-mir-4525 (MIRT694334)
- hsa-mir-7111-5p (MIRT694335)
- hsa-mir-6870-5p (MIRT694336)
- hsa-mir-5698 (MIRT694337)
- hsa-mir-4723-5p (MIRT694338)
- hsa-mir-625-5p (MIRT694339)
- hsa-mir-566 (MIRT694340)
- hsa-mir-6789-3p (MIRT694341)
- hsa-mir-661 (MIRT694342)
- hsa-mir-4252 (MIRT694343)
- hsa-mir-4696 (MIRT694344)
- hsa-mir-4522 (MIRT694345)
- hsa-mir-637 (MIRT694346)
- hsa-mir-4793-3p (MIRT694347)
- hsa-mir-6852-5p (MIRT694348)
- hsa-mir-6849-3p (MIRT694349)
- hsa-mir-1273g-3p (MIRT694350)
- hsa-mir-652-3p (MIRT694351)
- hsa-mir-451b (MIRT694352)
- hsa-mir-508-5p (MIRT694353)
- hsa-mir-4662b (MIRT694354)
- hsa-mir-4647 (MIRT694355)
- hsa-mir-4426 (MIRT694356)
- hsa-mir-4432 (MIRT694357)
- hsa-mir-550b-2-5p (MIRT694358)
- hsa-mir-1227-3p (MIRT694359)
- hsa-mir-6729-5p (MIRT694360)
- hsa-mir-4649-5p (MIRT694361)
- hsa-mir-1273a (MIRT694362)
- hsa-mir-4537 (MIRT694363)
- hsa-mir-5186 (MIRT694364)
- hsa-mir-4486 (MIRT694365)
- hsa-mir-766-3p (MIRT694366)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHST6
- Browse OriGene Inhibitory RNA Products For CHST6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHST6
- genomics-online: shRNA clones - Search results for 36 available CHST6 gene related products
- Overview of 36 available CHST6 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for CHST6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHST6
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHST6
- Applied Biological Materials Clones for CHST6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CHST6
No data available for Transcription Factor Targets and HOMER Transcription for CHST6 Gene
Localization for CHST6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CHST6 Gene
- Golgi apparatus membrane; Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| extracellular | 3 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005794 | Golgi apparatus | TAS | 11181564 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IBA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHST6 Gene
Pathways & Interactions for CHST6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Keratan sulfate/keratin metabolism | ||
| 2 | Glycosaminoglycan metabolism | ||
| 3 | Articular Cartilage Extracellular Matrix Pathway | ||
| 4 | Metabolism |
.37
|
|
| 5 | Cytochrome P450 - arranged by substrate type | ||
Pathways by source for CHST6 Gene
1 BioSystems pathway for CHST6 Gene
5 Reactome pathways for CHST6 Gene
1 KEGG pathway for CHST6 Gene
1 R&D Systems pathway for CHST6 Gene
Interacting Proteins for CHST6 Gene
GPS-Prot Interaction Network for CHST6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005975 | carbohydrate metabolic process | IEA | -- |
| GO:0006044 | N-acetylglucosamine metabolic process | IDA | 11352640 |
| GO:0006790 | sulfur compound metabolic process | IDA | 11352640 |
| GO:0018146 | keratan sulfate biosynthetic process | IDA,TAS | -- |
No data available for SIGNOR curated interactions for CHST6 Gene
Drugs & Compounds for CHST6 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Keratan |
|
69992-87-6 |
|
|||
| Poly-N-acetyllactosamine |
|
82441-98-3 |
|
Transcripts for CHST6 Gene
mRNA/cDNA for CHST6 Gene
- (30) Selected AceView cDNA sequences:
- (7) Additional mRNA sequences :
- (3) REFSEQ mRNAs :
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000332272 7957 bps (uc002fef.4)
- ENST00000390664 2093 bps (uc002feh.2)
Unigene Clusters for CHST6 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CHST6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHST6
- genomics-online: gRNA clones - Search results for 36 available CHST6 gene related products
- Overview of 36 available CHST6 gene related products
- Applied Biological Materials CRISPR for CHST6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHST6
- GenScript: Design CRISPR guide RNA sequences for CHST6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHST6
- Browse OriGene Inhibitory RNA Products For CHST6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHST6
- genomics-online: shRNA clones - Search results for 36 available CHST6 gene related products
- Overview of 36 available CHST6 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for CHST6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHST6
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHST6
- Applied Biological Materials Clones for CHST6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for CHST6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for CHST6 Gene
This gene is overexpressed in Cervix - Endocervix (x5.4) and Brain - Spinal cord (cervical c-1) (x4.3).
This gene is overexpressed in Oral epithelium (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CHST6 Gene
NURSA nuclear receptor signaling pathways regulating expression of CHST6 Gene:
CHST6SOURCE GeneReport for Unigene cluster for CHST6 Gene:
Hs.655622mRNA Expression by UniProt/SwissProt for CHST6 Gene:
Q9GZX3-CHST6_HUMAN
Tissue specificity:
Expressed in cornea. Mainly expressed in brain. Also expressed in spinal cord and trachea.
Evidence on tissue expression from TISSUES for CHST6 Gene
- Lung(4.1)
- Eye(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CHST6 Gene
Germ Layers:
- ectoderm
Systems:
- nervous
Regions:
Head and neck:
- brain
- eye
- head
Primer Products
-
OriGene qPCR primer pairs for CHST6
- genomics-online: primer clones - Search results for 36 available CHST6 gene related products
- Overview of 36 available CHST6 gene related products
Gene Expression Assay Products
Orthologs for CHST6 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CHST6 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CHST6 33 |
|
||
| -- 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | -- 34 |
|
OneToMany | |
| CHST6 33 |
|
||||
| mouse (Mus musculus) |
Mammalia | Chst5 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Chst5 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | -- 34 |
|
ManyToMany | |
| CHST6 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | chst6 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | zgc:194879 33 |
|
||
| CHST5 34 |
|
OneToMany | |||
| zgc64166 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7498 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG31637 34 33 |
|
ManyToMany | |
| CG9550 34 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009809 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| CSA.5535 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany |
- Species where no ortholog for CHST6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- 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 CHST6 Gene
- ENSEMBL:
- Gene Tree for CHST6 (if available)
- TreeFam:
- Gene Tree for CHST6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CHST6: view image
Paralogs for CHST6 Gene
Variants for CHST6 Gene
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1012972618 | uncertain-significance, Macular corneal dystrophy Type I | 75,473,458(-) | C/A/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1033536167 | uncertain-significance, Macular corneal dystrophy Type I | 75,473,189(-) | C/G | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1049885647 | uncertain-significance, Macular corneal dystrophy Type I | 75,481,821(-) | G/T | 5_prime_UTR_variant | |
| rs10871313 | benign, Macular corneal dystrophy Type I | 75,473,196(-) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs111307793 | uncertain-significance, Macular corneal dystrophy Type I | 75,476,831(-) | G/A | 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1007873 | CNV | gain | 20482838 |
| esv2672875 | CNV | deletion | 23128226 |
| esv2714710 | CNV | deletion | 23290073 |
| esv2758657 | CNV | gain | 17122850 |
| esv3571642 | CNV | gain | 25503493 |
| esv3639093 | CNV | loss | 21293372 |
| esv3639094 | CNV | loss | 21293372 |
| nsv1059777 | CNV | loss | 25217958 |
| nsv1063718 | CNV | gain | 25217958 |
| nsv1065995 | CNV | loss | 25217958 |
| nsv1134565 | CNV | deletion | 24896259 |
| nsv457521 | CNV | gain | 19166990 |
| nsv516675 | CNV | gain+loss | 19592680 |
| nsv525955 | CNV | loss | 19592680 |
| nsv572979 | CNV | gain | 21841781 |
| nsv572980 | CNV | loss | 21841781 |
| nsv572981 | CNV | gain | 21841781 |
Residual Variation Intolerance Score:
8.01% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.44;
43.00% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CHST6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHST6 Gene
Disorders for CHST6 Gene
(12) MalaCards diseases for CHST6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| macular dystrophy, corneal |
|
|
| corneal dystrophy |
|
|
| stromal dystrophy |
|
|
| corneal disease |
|
|
| corneal dystrophy, avellino type |
|
|
Search CHST6 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CHST6_HUMAN- Macular dystrophy, corneal (MCD) [MIM:217800]: An ocular disease characterized by bilateral, progressive corneal opacification, and reduced corneal sensitivity. Onset occurs in the first decade, usually between ages 5 and 9. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. The disease is due to deposition of an unsulfated keratan sulfate both within the intracellular space (within the keratocytes and endothelial cells) and in the extracellular corneal stroma. Macular corneal dystrophy is divided into the clinically indistinguishable types I, IA, and II based on analysis of the normally sulfated, or antigenic, keratan sulfate levels in serum and immunohistochemical evaluation of the cornea. Patients with types I and IA macular corneal dystrophy have undetectable serum levels of antigenic keratan sulfate, whereas those with type II macular corneal dystrophy have normal or low levels, depending on the population examined. {ECO:0000269 PubMed:11017086, ECO:0000269 PubMed:11139648, ECO:0000269 PubMed:11818380, ECO:0000269 PubMed:12218059, ECO:0000269 PubMed:12824236, ECO:0000269 PubMed:12882769, ECO:0000269 PubMed:12882775, ECO:0000269 PubMed:12883341, ECO:0000269 PubMed:14609920, ECO:0000269 PubMed:14735064, ECO:0000269 PubMed:14984470, ECO:0000269 PubMed:15013869, ECO:0000269 PubMed:15652851, ECO:0000269 PubMed:19365571, ECO:0000269 PubMed:21242781, ECO:0000269 PubMed:24311932, ECO:0000269 PubMed:26604660}. Note=The disease is caused by mutations affecting the gene represented in this entry. CHST6 homozygous missense mutations have been observed in patients with macular corneal dystrophy type I, while type II patients show a large deletion and replacement in the upstream region of CHST6. The only missense mutation for type II is Cys-50, which is heterozygous with a replacement in the upstream region on the other allele of CHST6.
Additional Disease Information for CHST6
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CHST6 Gene
Publications for CHST6 Gene
- Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. (PMID: 15013869) Aldave AJ … Small K (American journal of ophthalmology 2004) 3 4 22 44 58
- Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. (PMID: 14609920) Warren JF … Margolis TP (Archives of ophthalmology (Chicago, Ill. : 1960) 2003) 3 4 22 44 58
- Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. (PMID: 11017086) Akama TO … Fukuda MN (Nature genetics 2000) 2 3 4 22 58
- Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6. (PMID: 19365571) Dang X … Qi Y (Molecular vision 2009) 3 4 22 58
- Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. (PMID: 15652851) El-Ashry MF … Ebenezer ND (American journal of ophthalmology 2005) 3 4 22 58
Products for CHST6 Gene
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- antibodies-online: Search results for 46 available CHST6 Antibodies ranked by validation data
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- antibodies-online: Search results for 4 available CHST6 Proteins ranked by validation data
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- GeneTex CHST6 Antibody for CHST6
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- Horizon Cell Lines for CHST6
- genomics-online: cdna clones - Search results for 36 available CHST6 gene related products
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- genomics-online: gRNA clones - Search results for 36 available CHST6 gene related products
- Overview of 36 available CHST6 gene related products
- genomics-online: primer clones - Search results for 36 available CHST6 gene related products
- Overview of 36 available CHST6 gene related products
- genomics-online: shRNA clones - Search results for 36 available CHST6 gene related products
- Overview of 36 available CHST6 gene related products
- Browse GeneCopoeia Cell Lines
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- Boster Bio Antibodies for CHST6
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Sources for CHST6 Gene
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