CHST12 - carbohydrate sulfotransferase 12 Gene

Homo sapiens

Also known as C4S-2; C4ST2; C4ST-2

Gene ID: 55501 | Gene type: protein coding

About CHST12

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:2,403,448-2,448,484 (from NCBI)

This gene has 4 transcripts (splice variants), 197 orthologues and 6 paralogues. Ubiquitous expression in fat (RPKM 6.6), spleen (RPKM 6.2) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. Alternatively spliced transcript variants differing only in their 5' UTRs have been found for this gene. [provided by RefSeq, Aug 2011]

CHST12 Products(3)

mRNA	Protein	Name
NM_001243794.2	NP_001230723.1	carbohydrate sulfotransferase 12
NM_001243795.2	NP_001230724.1	carbohydrate sulfotransferase 12
NM_018641.5	NP_061111.1	carbohydrate sulfotransferase 12

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables chondroitin 4-sulfotransferase activity	IDA IDA: Inferred from direct assay	10781601	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in chondroitin sulfate biosynthetic process	IDA IDA: Inferred from direct assay	10781601	GOA
involved in dermatan sulfate biosynthetic process	IDA IDA: Inferred from direct assay	10781601	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHST12 Protein Structure

Sulfotransfer_2

0
100
200
300
414 a.a.

Protein Preferred Names

Protein Names

carbohydrate sulfotransferase 12

carbohydrate (chondroitin 4) sulfotransferase 12

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Dominant 22

MRD22	Mental Retardation, Autosomal Dominant 22
Autosomal Dominant Non-Syndromic Intellectual Disability 22	Distal Monosomy 1q
Autosomal Dominant Intellectual Developmental Disorder 22	Autosomal Dominant Mental Retardation 22
Distal Deletion 1q	Monosomy 1qter
Telomeric Deletion 1q	Mental Retardation, Autosomal Dominant, Type 22

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02684	CHST12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CHST12	VGNC	VGNC:39252
Felis catus	CHST12	VGNC	VGNC:82336
Rattus norvegicus	CHST12	RGD	RGD:1308214
Mus musculus	CHST12	MGD	MGI:1929064
Bos taurus	CHST12	VGNC	VGNC:27340
Macaca mulatta	CHST12	VGNC	VGNC:70967

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