• Gene id: 11046

Gene Summary

• Gene Symbol: SLC35D2   Gene   UCSC   Ensembl
• Aliases: HFRC1, SQV7L, UGTrel8, hfrc
• Gene name: solute carrier family 35 member D2
• Alternate names: UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter, SQV7-like protein, UDP-N-acetylglucosamine transporter, UDP-galactose transporter-related protein 8, fringe connection, homolog of Fringe connection protein 1, solute carrier family 35 (UDP-GlcNAc/UDP,
• Gene location: 9q22.32 (56505208: 56524455)     Exons: 7     NC_000004.12
• Gene summary(Entrez): Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol in
• OMIM: 609182

Protein Summary

• Protein general information: Q76EJ3  
  • Name: UDP N acetylglucosamine/UDP glucose/GDP mannose transporter (Homolog of Fringe connection protein 1) (HFRC1) (SQV7 like protein) (SQV7L) (Solute carrier family 35 member D2) (UDP galactose transporter related protein 8) (UGTrel8)
  • Length: 337  
  • Mass: 36673
  • Tissue specificity: Highly expressed in heart, kidney, small intestine, placenta, lung and peripheral blood leukocyte. Weakly expressed in skeletal muscle and spleen. Not expressed in brain, colon and thymus. {ECO
• Sequence:

  MTAGGQAEAEGAGGEPGAARLPSRVARLLSALFYGTCSFLIVLVNKALLTTYGFPSPIFLGIGQMAATIMILYVS
  KLNKIIHFPDFDKKIPVKLFPLPLLYVGNHISGLSSTSKLSLPMFTVLRKFTIPLTLLLETIILGKQYSLNIILS
  VFAIILGAFIAAGSDLAFNLEGYIFVFLNDIFTAANGVYTKQKMDPKELGKYGVLFYNACFMIIPTLIISVSTGD
  LQQATEFNQWKNVVFILQFLLSCFLGFLLMYSTVLCSYYNSALTTAVVGAIKNVSVAYIGILIGGDYIFSLLNFV
  GLNICMAGGLRYSFLTLSSQLKPKPVGEENICLDLKS

• Structural information:
  • Interpro: IPR004853  
  • STRING: ENSP00000253270
• Other Databases: GeneCards:  SLC35D2  Malacards:  SLC35D2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005462	UDP-N-acetylglucosamine transmembrane transporter activity	IBA	molecular function
GO:0005463	UDP-N-acetylgalactosamine transmembrane transporter activity	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0015165	pyrimidine nucleotide-sugar transmembrane transporter activity	IBA	molecular function
GO:0015297	antiporter activity	IBA	molecular function
GO:0022857	transmembrane transporter activity	IBA	molecular function
GO:0005461	UDP-glucuronic acid transmembrane transporter activity	IBA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008643	carbohydrate transport	IEA	biological process
GO:0006024	glycosaminoglycan biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005338	nucleotide-sugar transmembrane transporter activity	TAS	molecular function
GO:0005338	nucleotide-sugar transmembrane transporter activity	TAS	molecular function
GO:0018146	keratan sulfate biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0015931	nucleobase-containing compound transport	IEA	biological process
GO:0015931	nucleobase-containing compound transport	IEA	biological process
GO:0015931	nucleobase-containing compound transport	IEA	biological process
GO:0015789	UDP-N-acetylgalactosamine transmembrane transport	IEA	biological process
GO:0015787	UDP-glucuronic acid transmembrane transport	IEA	biological process
GO:1990569	UDP-N-acetylglucosamine transmembrane transport	IEA	biological process
GO:1901264	carbohydrate derivative transport	IEA	biological process
GO:1901264	carbohydrate derivative transport	IEA	biological process
GO:1901264	carbohydrate derivative transport	IEA	biological process
GO:0090481	pyrimidine nucleotide-sugar transmembrane transport	IEA	biological process
GO:0005338	nucleotide-sugar transmembrane transporter activity	NAS	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray