CHST12 - carbohydrate sulfotransferase 12 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55501

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 References Source
enables chondroitin 4-sulfotransferase activity IDA
IDA: Inferred from direct assay
10781601 GOA
Biological Process GO Annotation Evidence References 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

Sulfotransfer_2: Sulfotransferase family (156 - 406)

  • 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

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 Set / 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
Others CHST12 NCBI