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

Gene ID: 7355, updated on 2-Oct-2018

Summary

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; Vega:OTTHUMG00000024129
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

Genomic context

See SLC35A2 in Genome Data Viewer
Location:
Xp11.23
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (48903180..48911958, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48760459..48769235, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene proprotein convertase subtilisin/kexin type 1 inhibitor Neighboring gene translocase of inner mitochondrial membrane 17B Neighboring gene polyglutamine binding protein 1 Neighboring gene Pim-2 proto-oncogene, serine/threonine kinase Neighboring gene OTU deubiquitinase 5 Neighboring gene RNA, U6 small nuclear 722, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
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

HIV-1 interactions

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
UDP-galactose transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
UDP-galactose transmembrane transporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
UDP-galactose transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
carbohydrate transport IEA
Inferred from Electronic Annotation
more info
 
galactose metabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

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)

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
    5001..13779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001032289.2NP_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, OTTHUMP00000025815, ENST00000445167.7, OTTHUMT00000060792
    Conserved Domains (1) summary
    pfam04142
    Location:31142
    Nuc_sug_transp; Nucleotide-sugar transporter
  2. NM_001042498.2NP_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)
    D84454
    Consensus CDS
    CCDS43937.1
    UniProtKB/Swiss-Prot
    P78381
    Related
    ENSP00000365704.1, OTTHUMP00000025814, ENST00000376521.6, OTTHUMT00000060791
    Conserved Domains (1) summary
    pfam04142
    Location:31339
    Nuc_sug_transp; Nucleotide-sugar transporter
  3. NM_001282647.1NP_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/Swiss-Prot
    P78381
    UniProtKB/TrEMBL
    A6NFI1
    Related
    ENSP00000365712.3, OTTHUMP00000025816, ENST00000376529.8, OTTHUMT00000060793
    Conserved Domains (1) summary
    cl23754
    Location:114145
    EamA; EamA-like transporter family
  4. NM_001282648.1NP_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/Swiss-Prot
    P78381
    UniProtKB/TrEMBL
    A6NKM8
    Related
    ENSP00000365698.3, OTTHUMP00000025818, ENST00000376515.8, OTTHUMT00000060795
    Conserved Domains (1) summary
    cl23754
    Location:90121
    EamA; EamA-like transporter family
  5. NM_001282649.1NP_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)
    AK293415, D84454
    Consensus CDS
    CCDS65253.1
    UniProtKB/Swiss-Prot
    P78381
    Related
    ENSP00000489197.1, OTTHUMP00000281395, ENST00000635589.1, OTTHUMT00000488335
    Conserved Domains (1) summary
    pfam04142
    Location:31278
    Nuc_sug_transp; Nucleotide-sugar transporter
  6. NM_001282650.1NP_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)
    AK293419, D84454
    Consensus CDS
    CCDS75973.1
    UniProtKB/Swiss-Prot
    P78381
    UniProtKB/TrEMBL
    B4DE15
    Related
    ENSP00000478617.1, OTTHUMP00000281396, ENST00000616181.5, OTTHUMT00000488336
    Conserved Domains (2) summary
    TIGR00803
    Location:127351
    nst; UDP-galactose transporter
    pfam04142
    Location:44352
    Nuc_sug_transp; Nucleotide-sugar transporter
  7. NM_001282651.1NP_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)
    AK298484, D84454
    Consensus CDS
    CCDS65254.1
    UniProtKB/Swiss-Prot
    P78381
    Related
    ENSP00000416002.2, OTTHUMP00000281397, ENST00000452555.7, OTTHUMT00000488337
    Conserved Domains (2) summary
    TIGR00803
    Location:142366
    nst; UDP-galactose transporter
    pfam04142
    Location:59367
    Nuc_sug_transp; Nucleotide-sugar transporter
  8. NM_005660.2NP_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)
    AI632201, D84454, D88146
    Consensus CDS
    CCDS14311.1
    UniProtKB/Swiss-Prot
    P78381
    Related
    ENSP00000247138.5, OTTHUMP00000025813, ENST00000247138.10, OTTHUMT00000060790
    Conserved Domains (1) summary
    pfam04142
    Location:31339
    Nuc_sug_transp; Nucleotide-sugar transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    48903180..48911958 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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