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    SLC35C2 solute carrier family 35 member C2 [ Homo sapiens (human) ]

    Gene ID: 51006, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SLC35C2provided by HGNC
    Official Full Name
    solute carrier family 35 member C2provided by HGNC
    Primary source
    HGNC:HGNC:17117
    See related
    Ensembl:ENSG00000080189 MIM:619530; AllianceGenome:HGNC:17117
    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
    CGI-15; OVCOV1; C20orf5; BA394O2.1
    Summary
    This gene encodes a member of the triose-phosphate transporter protein family. This gene is regulated by oxygen tension, is induced in hypoxic trophoblast cells, and is overexpressed in ovarian cancer. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in testis (RPKM 9.5), placenta (RPKM 9.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC35C2 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (46345984..46364425, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (48082033..48100454, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44974623..44993064, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated CD40 regulatory element GRCh37_chr20:44746135-44748232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17967 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44781551-44782092 Neighboring gene CD40 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12973 Neighboring gene uncharacterized LOC124904916 Neighboring gene cadherin 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17968 Neighboring gene Sharpr-MPRA regulatory region 13247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44844486-44845022 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44845561-44846096 Neighboring gene MPRA-validated peak4226 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44886736-44887236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44928578-44929078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44929079-44929579 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:44932028-44932246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44941853-44942801 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:44952422-44952611 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44966161-44966662 Neighboring gene Sharpr-MPRA regulatory region 3506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44979919-44980510 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44980511-44981101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44985189-44985688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12974 Neighboring gene uncharacterized LOC124904917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17971 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:45022873-45023372 Neighboring gene engulfment and cell motility 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr20:45034435-45035064 and GRCh37_chr20:45035065-45035694 Neighboring gene uncharacterized LOC105372633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17973 Neighboring gene NANOG hESC enhancer GRCh37_chr20:45052681-45053240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17974

    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. Whole-body gene expression by data mining. Pires Martins R, et al. Genomics, 2001 Feb 15. PMID 11247664
    2. Assignment of OVCOV1 (alias CGI-15) to human chromosome 20 band q13.1-->q13.2 by fluorescent in situ hybridization. Leach R, et al. Cytogenet Cell Genet, 2001. PMID 11856893
    3. Oxygen as a regulator of cellular phenotypes in pregnancy and cancer. Lash GE, et al. Can J Physiol Pharmacol, 2002 Feb. PMID 11934252
    4. Identification, molecular characterization, and tissue expression of OVCOV1. Leach RE, et al. Mamm Genome, 2002 Nov. PMID 12461647
    5. In vivo evidence for GDP-fucose transport in the absence of transporter SLC35C1 and putative transporter SLC35C2. Lu L, et al. J Biol Chem, 2023 Dec. PMID 38270391, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In vivo evidence for GDP-fucose transport in the absence of transporter SLC35C1 and putative transporter SLC35C2.
      Title: In vivo evidence for GDP-fucose transport in the absence of transporter SLC35C1 and putative transporter SLC35C2.
    2. Assignment of OVCOV1 (alias CGI-15) to human chromosome 20 band q13.1-->q13.2 by fluorescent in situ hybridization
      Title: Assignment of OVCOV1 (alias CGI-15) to human chromosome 20 band q13.1-->q13.2 by fluorescent in situ hybridization.
    Submit: New GeneRIF Correction

    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37039, FLJ46434, MGC20633, MGC32079, MGC39183

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in UDP-glucose transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein O-linked fucosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cis-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cis-Golgi network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum-Golgi intermediate compartment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum-Golgi intermediate compartment 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
    solute carrier family 35 member C2
    Names
    ovarian cancer-overexpressed gene 1 protein
    solute carrier family 35 (GDP-fucose transporter), member C2

    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.

    mRNA and Protein(s)

    1. NM_001281457.2 → NP_001268386.1  solute carrier family 35 member C2 isoform c

      See identical proteins and their annotated locations for NP_001268386.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AL133227, BC021138, BM666377, DA820126, DB246755
      UniProtKB/TrEMBL
      B7Z6F2
      Conserved Domains (1) summary
      cd21092
      Location:1 → 213
      TPT_S35C2; solute carrier family 35 member C2, member of the triose-phosphate transporter family

    2. NM_001281458.2 → NP_001268387.1  solute carrier family 35 member C2 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a longer and distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AK301022, AL133227, BC021138, BM666377, DA820126
      Consensus CDS
      CCDS63292.1
      UniProtKB/Swiss-Prot
      Q9NQQ7
      Related
      ENSP00000318960.9, ENST00000317734.12
      Conserved Domains (1) summary
      pfam03151
      Location:45 → 342
      TPT; Triose-phosphate Transporter family

    3. NM_001281459.2 → NP_001268388.1  solute carrier family 35 member C2 isoform e

      See identical proteins and their annotated locations for NP_001268388.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has multiple differences in the 5' UTR and 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (e) is shorter, compared to isoform a.
      Source sequence(s)
      AL133227, BC021138, BI831689, BM666377, DA820126
      UniProtKB/TrEMBL
      B7Z6F2, B7Z6R4
      Conserved Domains (1) summary
      cd21092
      Location:1 → 192
      TPT_S35C2; solute carrier family 35 member C2, member of the triose-phosphate transporter family

    4. NM_001281460.2 → NP_001268389.1  solute carrier family 35 member C2 isoform a

      See identical proteins and their annotated locations for NP_001268389.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 7 encode the same isoform (a).
      Source sequence(s)
      AL133227, BC025277, BM666377, DA820126, DB023133
      Consensus CDS
      CCDS13396.1
      UniProtKB/Swiss-Prot
      B7Z6V6, E1P5T0, Q53GK3, Q5JW05, Q96CJ8, Q9NQQ7, Q9Y304
      Related
      ENSP00000361301.1, ENST00000372227.5
      Conserved Domains (1) summary
      cd21092
      Location:80 → 327
      TPT_S35C2; solute carrier family 35 member C2, member of the triose-phosphate transporter family

    5. NM_015945.12 → NP_057029.8  solute carrier family 35 member C2 isoform a

      See identical proteins and their annotated locations for NP_057029.8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 7 encode the same isoform (a).
      Source sequence(s)
      AK222928, AL133227, BC014191, BM666377, DA820126
      Consensus CDS
      CCDS13396.1
      UniProtKB/Swiss-Prot
      B7Z6V6, E1P5T0, Q53GK3, Q5JW05, Q96CJ8, Q9NQQ7, Q9Y304
      Related
      ENSP00000361304.5, ENST00000372230.10
      Conserved Domains (1) summary
      cd21092
      Location:80 → 327
      TPT_S35C2; solute carrier family 35 member C2, member of the triose-phosphate transporter family

    6. NM_173073.4 → NP_775096.1  solute carrier family 35 member C2 isoform b

      See identical proteins and their annotated locations for NP_775096.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (b) is shorter, compared to isoform a.
      Source sequence(s)
      AL133227, BC014191, BM666377, DA820126
      Consensus CDS
      CCDS13397.1
      UniProtKB/Swiss-Prot
      Q9NQQ7
      Related
      ENSP00000439974.2, ENST00000543605.5
      Conserved Domains (1) summary
      cl26744
      Location:16 → 292
      TPT; Triose-phosphate Transporter family

    7. NM_173179.4 → NP_775271.1  solute carrier family 35 member C2 isoform a

      See identical proteins and their annotated locations for NP_775271.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a. Variants 1, 2, and 7 encode the same isoform.
      Source sequence(s)
      AL133227, BC021138, BM666377, DA820126
      Consensus CDS
      CCDS13396.1
      UniProtKB/Swiss-Prot
      B7Z6V6, E1P5T0, Q53GK3, Q5JW05, Q96CJ8, Q9NQQ7, Q9Y304
      Related
      ENSP00000243896.2, ENST00000243896.6
      Conserved Domains (1) summary
      cd21092
      Location:80 → 327
      TPT_S35C2; solute carrier family 35 member C2, member of the triose-phosphate transporter family

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      46345984..46364425 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      48082033..48100454 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQQ7.2 GenPept UniProtKB/Swiss-Prot:Q9NQQ7

    Gene LinkOut

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

    Chemical Information
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