SLC35D2 - solute carrier family 35 member D2 Gene

Also Known as hfrc; HFRC1; SQV7L; UGTrel8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11046

About SLC35D2

Cytogenetic location: 9q22.32 Genomic coordinates (GRCh38): 9:96,313,444-96,383,711 (from NCBI)

This gene has 6 transcripts (splice variants), 196 orthologues and 9 paralogues. Ubiquitous expression in small intestine (RPKM 17.7), duodenum (RPKM 17.4) and 25 other tissues.

Summary

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 into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).[supplied by OMIM, Mar 2008]

SLC35D2 Products (2)

mRNA	Protein	Name
NM_001286990.2	NP_001273919.1	UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter isoform b
NM_007001.3	NP_008932.2	UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables nucleotide-sugar transmembrane transporter activity	EXP EXP: Inferred from Experiment	15082721	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of positive effect heparan sulfate proteoglycan biosynthetic process	IMP IMP: Inferred from mutant phenotype	15082721	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in Golgi membrane	IDA IDA: Inferred from direct assay	15082721	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

SLC35D2 Protein Structure

TPT

0
100
200
300
337 a.a.

Protein Preferred Names	Protein Names
UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter	SQV7-like protein

Related Diseases

Diseases	Alias
Dicarboxylic Aminoaciduria	Glutamate-Aspartate Transport Defect Dicarboxylicaminoaciduria DCBXA Renal Aminoacidurias
Thiamine-Responsive Megaloblastic Anemia Syndrome	TRMA Rogers Syndrome Thiamine-Responsive Myelodysplasia Thiamine-Responsive Anemia Syndrome Thiamine Metabolism Dysfunction Syndrome 1 Thmd1 Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Deafness Thiamine Responsive Megaloblastic Anemia Syndrome Megaloblastic Anemia Thiamine-Responsive With Diabetes Mellitus And Sensorineural Deafness Thiamine-Responsive Megaloblastic Anemia Thiamine-Responsive Anaemia Syndrome Thiamine-Responsive Megaloblastic Anaemia Syndrome Thiamine-Responsive Megaloblastic Anaemia With Diabetes Mellitus And Sensorineural Deafness Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Hearing Loss
Hydranencephaly	Hydroanencephaly
Atrial Septal Defect 1	ASD1 Atrial Heart Septal Defect 1 Asd

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-RS13202	SLC35D2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SLC35D2	VGNC	VGNC:102983
Macaca mulatta	SLC35D2	VGNC	VGNC:77534
Canis familiaris	SLC35D2	VGNC	VGNC:46371
Bos taurus	SLC35D2	VGNC	VGNC:52827
Rattus norvegicus	SLC35D2	RGD	RGD:1309518
Mus musculus	SLC35D2	MGD	MGI:1917734