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

    Gene ID: 7355, updated on 28-Oct-2024

    Summary

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    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
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    Genomic context

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    See SLC35A2 in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48903183..48911958, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48313659..48322434, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. [Hypocalcemia after thyroidectomy. Pathogenetic and clinical aspects]. Di Gesù G. Minerva Med, 1987 Mar 31. PMID 3561849
    2. A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy. Kimizu T, et al. Brain Dev, 2017 Mar. PMID 27743886
    3. SLC35A2 expression drives breast cancer progression via ERK pathway activation. Yang X, et al. FEBS J, 2024 Apr. PMID 38143314
    4. Short N-terminal region of UDP-galactose transporter (SLC35A2) is crucial for galactosylation of N-glycans. Sosicka P, et al. Biochem Biophys Res Commun, 2014 Nov 28. PMID 25451267
    5. Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Winawer MR, et al. Ann Neurol, 2018 Jun. PMID 29679388, Free PMC Article

    See all (59) 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

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    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

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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)

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    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_2024_08

    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

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