CHPF - chondroitin polymerizing factor Gene

Also Known as CSS2; CHSY2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79586

About CHPF

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,538,954-219,543,809 (from NCBI)

This gene has 6 transcripts (splice variants), 204 orthologues and 7 paralogues. Broad expression in testis (RPKM 33.7), placenta (RPKM 25.6) and 24 other tissues.

Summary

Enables N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. Involved in chondroitin sulfate biosynthetic process. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]

CHPF Products (2)

mRNA Protein Name
NM_001195731.2 NP_001182660.2 chondroitin sulfate synthase 2 isoform 2
NM_024536.6 NP_078812.3 chondroitin sulfate synthase 2 isoform 1
Molecular Function GO Annotation Evidence Références Source
enables N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity IDA
IDA: Inferred from direct assay
12761225 GOA
enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity IDA
IDA: Inferred from direct assay
12761225 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
22082830 GOA
Biological Process GO Annotation Evidence Références Source
involved in chondroitin sulfate biosynthetic process IDA
IDA: Inferred from direct assay
12761225 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

CHPF Protein Structure

CHGN

CHGN: Chondroitin N-acetylgalactosaminyltransferase (262 - 762)

  • 0
  • 200
  • 400
  • 600
  • 775 a.a.
Protein Preferred Names Protein Names

chondroitin sulfate synthase 2

  • N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase II

Related Diseases

Diseases Alias
Breast Pericanalicular Fibroadenoma
  • Pericanalicular Fibroadenoma

  • Pericanalicular Fibroadenoma Of Breast

Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
  • SEMDJL1

  • Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1

  • Semdjl

  • Spondyloepimetaphyseal Dysplasia With Joint Laxity, 1, With Or Without Fractures

  • Semdjl-Beighton Type

  • Spondyloepimetaphyseal Dysplasia With Joint Laxity Beighton Type

Spondyloepimetaphyseal Dysplasia With Joint Laxity
  • Dysplasia, Spondyloepimetaphyseal, With Joint Laxity

  • Semdjl

  • Spondyloepimetaphyseal Dysplasia Joint Laxity

  • Semd-Jl

  • Semdjl1

  • Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1

  • Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type

Temtamy Preaxial Brachydactyly Syndrome
  • Preaxial Brachydactyly Syndrome, Temtamy Type

  • TPBS

  • Intellectual Disability Syndrome With Preaxial Brachydactyly, Hyperphalangism, Deafness And Orodental Anomalies

  • Preaxial Brachydactyly Syndrome Temtamy Type

Her2-Receptor Positive Breast Cancer
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
  • Spondyloepiphyseal Dysplasia

  • Chst3-Related Skeletal Dysplasia

  • Humerospinal Dysostosis

  • Spondyloepiphyseal Dysplasia, Omani Type

  • Chondrodysplasia With Multiple Dislocations

  • SEDCJD

  • Hsd

  • Cdmd

  • Humero-Spinal Dysostosis

  • Kozlowski Celermajer Tink Syndrome

  • Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

  • Larsen Syndrome, Recessive Type

  • Humero-Spinal Dysostosis With Congenital Heart Disease

  • Omani Type

  • Sed

  • Chst3 Deficiency

  • Chst3-Related Dysplasia

  • Recessive Larsen Syndrome

  • Autosomal Recessive Larsen Syndrome

  • Sed With Luxations, Chst3 Type

  • Sed, Omani Type

  • Sdcd, Chst3 Type

  • Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

  • Sed Omani Type

  • Spondyloepiphyseal Dysplasia Omani Type

  • Larsen Syndrome, Autosomal Recessive

  • Mucopolysaccharidosis Iv

  • Spondyloepiphyseal Dysplasia, Congenita

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta CHPF VGNC VGNC:71088
Rattus norvegicus CHPF RGD RGD:1359458
Felis catus CHPF VGNC VGNC:107510
Mus musculus CHPF MGD MGI:106576
Bos taurus CHPF VGNC VGNC:27312
Others CHPF NCBI