• Gene id: 79586

Gene Summary

• Gene Symbol: CHPF   Gene   UCSC   Ensembl
• Aliases: CHSY2, CSS2
• Gene name: chondroitin polymerizing factor
• Alternate names: chondroitin sulfate synthase 2, N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase II, N-acetylgalactosaminyltransferase 2, chondroitin glucuronyltransferase 2, glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltran,
• Gene location: 2q35 (219543808: 219538946)     Exons: 5     NC_000002.12
• OMIM: 607028

Protein Summary

• Protein general information: Q8IZ52  
  • Name: Chondroitin sulfate synthase 2 (EC 2.4.1.175) (EC 2.4.1.226) (Chondroitin glucuronyltransferase 2) (Chondroitin polymerizing factor) (ChPF) (Glucuronosyl N acetylgalactosaminyl proteoglycan 4 beta N acetylgalactosaminyltransferase II) (N acetylgalactosami
  • Length: 775  
  • Mass: 85467
  • Tissue specificity: Ubiquitous. Highly expressed in pancreas, ovary, brain, heart, skeletal muscle, colon, kidney, liver, stomach, spleen and placenta. Isoform 3 is also ubiquitous. Isoform 2 is expressed in brain, spleen, ovary, testis, lung and peripher
• Sequence:

  MRASLLLSVLRPAGPVAVGISLGFTLSLLSVTWVEEPCGPGPPQPGDSELPPRGNTNAARRPNSVQPGAEREKPG
  AGEGAGENWEPRVLPYHPAQPGQAAKKAVRTRYISTELGIRQRLLVAVLTSQTTLPTLGVAVNRTLGHRLERVVF
  LTGARGRRAPPGMAVVTLGEERPIGHLHLALRHLLEQHGDDFDWFFLVPDTTYTEAHGLARLTGHLSLASAAHLY
  LGRPQDFIGGEPTPGRYCHGGFGVLLSRMLLQQLRPHLEGCRNDIVSARPDEWLGRCILDATGVGCTGDHEGVHY
  SHLELSPGEPVQEGDPHFRSALTAHPVRDPVHMYQLHKAFARAELERTYQEIQELQWEIQNTSHLAVDGDQAAAW
  PVGIPAPSRPASRFEVLRWDYFTEQHAFSCADGSPRCPLRGADRADVADVLGTALEELNRRYHPALRLQKQQLVN
  GYRRFDPARGMEYTLDLQLEALTPQGGRRPLTRRVQLLRPLSRVEILPVPYVTEASRLTVLLPLAAAERDLAPGF
  LEAFATAALEPGDAAAALTLLLLYEPRQAQRVAHADVFAPVKAHVAELERRFPGARVPWLSVQTAAPSPLRLMDL
  LSKKHPLDTLFLLAGPDTVLTPDFLNRCRMHAISGWQAFFPMHFQAFHPAVAPPQGPGPPELGRDTGRFDRQAAS
  EACFYNSDYVAARGRLAAASEQEEELLESLDVYELFLHFSSLHVLRAVEPALLQRYRAQTCSARLSEDLYHRCLQ
  SVLEGLGSRTQLAMLLFEQEQGNST

• Structural information:
  • Interpro: IPR008428  
  • STRING: ENSP00000243776
• Other Databases: GeneCards:  CHPF  Malacards:  CHPF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008376	acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0050510	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	IEA	molecular function
GO:0047238	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0050510	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	IDA	molecular function
GO:0047238	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0030206	chondroitin sulfate biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0030206	chondroitin sulfate biosynthetic process	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0008376	acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0050510	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	IEA	molecular function
GO:0047238	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0050510	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	IDA	molecular function
GO:0047238	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0030206	chondroitin sulfate biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0030206	chondroitin sulfate biosynthetic process	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00532	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881