CHPF - chondroitin polymerizing factor Gene

Homo sapiens

Also known as CSS2; CHSY2

Gene ID: 79586 | Gene type: protein coding

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

CHPF Protein Structure

CHGN

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02654	CHPF Human Pre-designed siRNA Set A		/	Unkown

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