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

Gene ID: 51006, updated on 13-Mar-2020

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
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

Genomic context

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See SLC35C2 in Genome Data Viewer
Location:
20q13.12
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (46345984..46364458, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44978167..44993097, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene CD40 molecule Neighboring gene cadherin 22 Neighboring gene engulfment and cell motility 2 Neighboring gene uncharacterized LOC105372633 Neighboring gene zinc finger protein 663, pseudogene

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
  • 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. Oxygen as a regulator of cellular phenotypes in pregnancy and cancer. Lash GE, et al. Can J Physiol Pharmacol, 2002 Feb. PMID 11934252
  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. Whole-body gene expression by data mining. Pires Martins R, et al. Genomics, 2001 Feb 15. PMID 11247664
  4. Identification, molecular characterization, and tissue expression of OVCOV1. Leach RE, et al. Mamm Genome, 2002 Nov. PMID 12461647
  5. Slc35c2 promotes Notch1 fucosylation and is required for optimal Notch signaling in mammalian cells. Lu L, et al. J Biol Chem, 2010 Nov 12. PMID 20837470, Free PMC Article

See all (18) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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
antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Process Evidence Code Pubs
UDP-glucose transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
positive regulation of Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
  
protein O-linked fucosylation IEA
Inferred from Electronic Annotation
more info
  
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
  
cis-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
cis-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 
endoplasmic reticulum-Golgi intermediate compartment IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
endoplasmic reticulum-Golgi intermediate compartment IDA
Inferred from Direct Assay
more info
 PubMed 
endoplasmic reticulum-Golgi intermediate compartment membrane IEA
Inferred from Electronic Annotation
more info
  
integral component of membrane IEA
Inferred from Electronic Annotation
more info
  
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/Swiss-Prot
    Q9NQQ7
    Conserved Domains (1) summary
    cl26744
    Location:3 → 199
    TPT; Triose-phosphate Transporter family

  2. NM_001281458.1 → 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, 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/Swiss-Prot
    Q9NQQ7
    UniProtKB/TrEMBL
    B7Z6R4

  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
    Q9NQQ7
    Conserved Domains (1) summary
    cl26744
    Location:16 → 313
    TPT; 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
    Q9NQQ7
    Related
    ENSP00000361304.5, ENST00000372230.10
    Conserved Domains (1) summary
    cl26744
    Location:16 → 313
    TPT; 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
    Q9NQQ7
    Related
    ENSP00000243896.2, ENST00000243896.6
    Conserved Domains (1) summary
    cl26744
    Location:16 → 313
    TPT; Triose-phosphate Transporter family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    46345984..46364458 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528835.2 → XP_011527137.1  solute carrier family 35 member C2 isoform X4

    Conserved Domains (1) summary
    cl26744
    Location:16 → 113
    TPT; Triose-phosphate Transporter family

  2. XM_011528834.2 → XP_011527136.1  solute carrier family 35 member C2 isoform X2

    Conserved Domains (1) summary
    cl26744
    Location:16 → 138
    TPT; Triose-phosphate Transporter family

  3. XM_017027862.2 → XP_016883351.1  solute carrier family 35 member C2 isoform X5

  4. XM_017027861.1 → XP_016883350.1  solute carrier family 35 member C2 isoform X3

    UniProtKB/Swiss-Prot
    Q9NQQ7
    Conserved Domains (1) summary
    cl26744
    Location:16 → 292
    TPT; Triose-phosphate Transporter family

  5. XM_011528836.1 → XP_011527138.1  solute carrier family 35 member C2 isoform X6

    See identical proteins and their annotated locations for XP_011527138.1

    Conserved Domains (1) summary
    cl26744
    Location:3 → 199
    TPT; Triose-phosphate Transporter family

  6. XM_011528838.2 → XP_011527140.1  solute carrier family 35 member C2 isoform X7

  7. XM_011528832.1 → XP_011527134.1  solute carrier family 35 member C2 isoform X1

    See identical proteins and their annotated locations for XP_011527134.1

    UniProtKB/Swiss-Prot
    Q9NQQ7
    Conserved Domains (1) summary
    cl26744
    Location:16 → 313
    TPT; Triose-phosphate Transporter family

  8. XM_011528833.1 → XP_011527135.1  solute carrier family 35 member C2 isoform X1

    See identical proteins and their annotated locations for XP_011527135.1

    UniProtKB/Swiss-Prot
    Q9NQQ7
    Conserved Domains (1) summary
    cl26744
    Location:16 → 313
    TPT; Triose-phosphate Transporter family

  9. XM_011528837.1 → XP_011527139.1  solute carrier family 35 member C2 isoform X6

    See identical proteins and their annotated locations for XP_011527139.1

    Conserved Domains (1) summary
    cl26744
    Location:3 → 199
    TPT; Triose-phosphate Transporter family

  10. XM_011528831.1 → XP_011527133.1  solute carrier family 35 member C2 isoform X1

    See identical proteins and their annotated locations for XP_011527133.1

    UniProtKB/Swiss-Prot
    Q9NQQ7
    Related
    ENSP00000361301.1, ENST00000372227.5
    Conserved Domains (1) summary
    cl26744
    Location:16 → 313
    TPT; Triose-phosphate Transporter family

RNA

  1. XR_001754283.2 RNA Sequence

  2. XR_001754284.2 RNA Sequence

  3. XR_936543.2 RNA Sequence

  4. XR_936541.2 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NQQ7.2 GenPept UniProtKB/Swiss-Prot:Q9NQQ7

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