U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SLC35A2 solute carrier family 35 member A2 [ Homo sapiens (human) ]

Gene ID: 7355, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
SLC35A2provided by HGNC
Official Full Name
solute carrier family 35 member A2provided by HGNC
Primary source
HGNC:HGNC:11022
See related
Ensembl:ENSG00000102100 MIM:314375; AllianceGenome:HGNC:11022
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UGT; CDGX; UGAT; UGT1; UGT2; UGTL; CDG2M; UGALT; UDP-Gal-Tr
Summary
This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. Mutations in this gene cause congenital disorder of glycosylation type IIm (CDG2M). Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2014]
Expression
Ubiquitous expression in colon (RPKM 9.3), stomach (RPKM 6.6) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
Xp11.23
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48903183..48911958, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48313659..48322434, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48760460..48769235, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:48689342-48689842 Neighboring gene proprotein convertase subtilisin/kexin type 1 inhibitor Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:48726714-48727913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29617 Neighboring gene translocase of inner mitochondrial membrane 17B Neighboring gene polyglutamine binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:48778351-48779235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:48780780-48781287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:48781288-48781794 Neighboring gene Pim-2 proto-oncogene, serine/threonine kinase Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:48784732-48785370 Neighboring gene OTU deubiquitinase 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:48794231-48795004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29623 Neighboring gene CRISPRi-validated PIM2 and PQBP1 regulatory elements GRCh37_chrX:48797400-48798550 and GRCh37_chrX:48797725-48798225 Neighboring gene CRISPRi-validated PIM2 and PQBP1 regulatory elements GRCh37_chrX:48798640-48799830 and GRCh37_chrX:48798965-48799505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20829 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29625

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. SLC35A2 deficiency reduces protein levels of core 1 β-1,3-galactosyltransferase 1 (C1GalT1) and its chaperone Cosmc and affects their subcellular localization. Wiertelak W, et al. Biochim Biophys Acta Mol Cell Res, 2023 Jun. PMID 36933771
  2. Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene. Barba C, et al. Neurology, 2023 Jan 31. PMID 36307217, Free PMC Article
  3. SLC35A2-CDG: novel variants with two ends of the spectrum. Kasapkara ÇS, et al. J Pediatr Endocrinol Metab, 2021 Sep 27. PMID 34161696
  4. Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). Bonduelle T, et al. Acta Neuropathol Commun, 2021 Jan 6. PMID 33407896, Free PMC Article
  5. [Clinical characteristics of SLC35A2 gene variants related congenital disorders of glycosylation typeⅡ]. Lang CH, et al. Zhonghua Er Ke Za Zhi, 2020 Jul 2. PMID 32605344

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SLC35A2 expression drives breast cancer progression via ERK pathway activation.
    Title: SLC35A2 expression drives breast cancer progression via ERK pathway activation.
  2. SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE.
    Title: SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE.
  3. SLC35A2 deficiency reduces protein levels of core 1 beta-1,3-galactosyltransferase 1 (C1GalT1) and its chaperone Cosmc and affects their subcellular localization.
    Title: SLC35A2 deficiency reduces protein levels of core 1 β-1,3-galactosyltransferase 1 (C1GalT1) and its chaperone Cosmc and affects their subcellular localization.
  4. Nucleotide sugar transporter SLC35A2 is involved in promoting hepatocellular carcinoma metastasis by regulating cellular glycosylation.
    Title: Nucleotide sugar transporter SLC35A2 is involved in promoting hepatocellular carcinoma metastasis by regulating cellular glycosylation.
  5. Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
    Title: Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
  6. SLC35A2-CDG: novel variants with two ends of the spectrum.
    Title: SLC35A2-CDG: novel variants with two ends of the spectrum.
  7. A three-pocket model for substrate coordination and selectivity by the nucleotide sugar transporters SLC35A1 and SLC35A2.
    Title: A three-pocket model for substrate coordination and selectivity by the nucleotide sugar transporters SLC35A1 and SLC35A2.
  8. Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).
    Title: Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).
  9. [Clinical characteristics of SLC35A2 gene variants related congenital disorders of glycosylation type].
    Title: [Clinical characteristics of SLC35A2 gene variants related congenital disorders of glycosylation typeⅡ].
  10. Although normal glycosylation studies together with clinical variability and genetic results complicate the diagnosis of SLC35A2-CDG, the data indicate that the combination of these three elements can support the pathogenicity of mutations in SLC35A2.
    Title: Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
SLC35A2-congenital disorder of glycosylation
MedGen: C3806688 OMIM: 300896 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2018-01-24)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2018-01-24)

ClinGen Genome Curation PagePubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction Pubs
Knockdown of solute carrier family 35 (UDP-galactose transporter), member A2 (SLC35A2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables UDP-galactose transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables UDP-galactose transmembrane transporter activity TAS
Traceable Author Statement
more info
  
enables antiporter activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in UDP-galactose transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in UDP-galactose transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in galactose metabolic process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

Go to the top of the page Help
Preferred Names
UDP-galactose translocator
Names
solute carrier family 35 (UDP-galactose transporter), member 2
solute carrier family 35 (UDP-galactose transporter), member A2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034300.1 RefSeqGene

    Range
    5313..13776
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001032289.3 → NP_001027460.1  UDP-galactose translocator isoform b

    See identical proteins and their annotated locations for NP_001027460.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' exon structure, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    BC035747, D84454
    Consensus CDS
    CCDS35247.1
    UniProtKB/Swiss-Prot
    P78381
    Related
    ENSP00000402726.2, ENST00000445167.7
    Conserved Domains (1) summary
    pfam04142
    Location:31 → 142
    Nuc_sug_transp; Nucleotide-sugar transporter

  2. NM_001042498.3 → NP_001035963.1  UDP-galactose translocator isoform c

    See identical proteins and their annotated locations for NP_001035963.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as UGT1) differs in the 3' exon structure, compared to variant 1. The encoded isoform (c) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC233300, D84454
    Consensus CDS
    CCDS43937.1
    UniProtKB/TrEMBL
    Q6ICV6
    Related
    ENSP00000365704.1, ENST00000376521.6
    Conserved Domains (1) summary
    pfam04142
    Location:31 → 339
    Nuc_sug_transp; Nucleotide-sugar transporter

  3. NM_001282647.2 → NP_001269576.1  UDP-galactose translocator isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (d) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AI632201, BI820134, D84454
    Consensus CDS
    CCDS75974.1
    UniProtKB/TrEMBL
    A6NFI1
    Related
    ENSP00000365712.3, ENST00000376529.8
    Conserved Domains (1) summary
    cl23754
    Location:114 → 145
    EamA; EamA-like transporter family

  4. NM_001282648.2 → NP_001269577.1  UDP-galactose translocator isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks a portion of the 5' coding region, initiates translation at an alternate upstream start codon, and differs in the 3' exon structure, compared to variant 1. The encoded isoform (e) is shorter and has distinct N- and C-termini, compared to isoform a.
    Source sequence(s)
    AL556714, D84454
    Consensus CDS
    CCDS75975.1
    UniProtKB/TrEMBL
    A6NKM8
    Related
    ENSP00000365698.3, ENST00000376515.8
    Conserved Domains (1) summary
    cl23754
    Location:90 → 121
    EamA; EamA-like transporter family

  5. NM_001282649.2 → NP_001269578.1  UDP-galactose translocator isoform f

    See identical proteins and their annotated locations for NP_001269578.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate in-frame exon in the 5' coding region and differs in the 3' exon structure, compared to variant 1. The encoded isoform (f) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC233300, AK293415, D84454
    Consensus CDS
    CCDS65253.1
    UniProtKB/TrEMBL
    Q6ICV6
    Related
    ENSP00000489197.1, ENST00000635589.1
    Conserved Domains (1) summary
    pfam04142
    Location:31 → 278
    Nuc_sug_transp; Nucleotide-sugar transporter

  6. NM_001282650.2 → NP_001269579.1  UDP-galactose translocator isoform g

    See identical proteins and their annotated locations for NP_001269579.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate in-frame splice site in the 5' coding region and differs in the 3' exon structure, compared to variant 1. The encoded isoform (g) is longer and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC233300, AK293419, D84454
    Consensus CDS
    CCDS75973.1
    UniProtKB/TrEMBL
    B4DE15, Q6ICV6
    Related
    ENSP00000478617.1, ENST00000616181.5
    Conserved Domains (2) summary
    TIGR00803
    Location:127 → 351
    nst; UDP-galactose transporter
    pfam04142
    Location:44 → 352
    Nuc_sug_transp; Nucleotide-sugar transporter

  7. NM_001282651.2 → NP_001269580.1  UDP-galactose translocator isoform h

    See identical proteins and their annotated locations for NP_001269580.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) contains an alternate in-frame exon in the 5' coding region and differs in the 3' exon structure, compared to variant 1. The encoded isoform (h) is longer and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC233300, AK298484, D84454
    Consensus CDS
    CCDS65254.1
    UniProtKB/TrEMBL
    Q6ICV6
    Related
    ENSP00000416002.2, ENST00000452555.7
    Conserved Domains (2) summary
    TIGR00803
    Location:142 → 366
    nst; UDP-galactose transporter
    pfam04142
    Location:59 → 367
    Nuc_sug_transp; Nucleotide-sugar transporter

  8. NM_005660.3 → NP_005651.1  UDP-galactose translocator isoform a

    See identical proteins and their annotated locations for NP_005651.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as UGT2) encodes isoform a.
    Source sequence(s)
    D84454, D88146
    Consensus CDS
    CCDS14311.1
    UniProtKB/Swiss-Prot
    A8K2L9, A8K9V1, B4DE11, B4DPT2, E7EW45, P78381, Q8IV21, Q92553
    UniProtKB/TrEMBL
    Q6ICV6
    Related
    ENSP00000247138.5, ENST00000247138.11
    Conserved Domains (1) summary
    pfam04142
    Location:31 → 339
    Nuc_sug_transp; Nucleotide-sugar transporter

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    48903183..48911958 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791820.1 Reference GRCh38.p14 PATCHES

    Range
    62018..70793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    48313659..48322434 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P78381.1 GenPept UniProtKB/Swiss-Prot:P78381

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous