U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

C8orf34 chromosome 8 open reading frame 34 [ Homo sapiens (human) ]

Gene ID: 116328, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
C8orf34provided by HGNC
Official Full Name
chromosome 8 open reading frame 34provided by HGNC
Primary source
HGNC:HGNC:30905
See related
Ensembl:ENSG00000165084 AllianceGenome:HGNC:30905
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
VEST1; VEST-1
Summary
This gene encodes a protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicities, such as diarrhea and neutropenia, in patients undergoing chemotherapeutic treatment. [provided by RefSeq, Mar 2017]
Expression
Low expression observed in reference dataset 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
See C8orf34 in Genome Data Viewer
Location:
8q13.2
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (68330373..68819023)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (68757073..69245732)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (69242608..69731258)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 Neighboring gene uncharacterized LOC124901957 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:69114328-69114936 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:69141606-69142185 Neighboring gene MPRA-validated peak7062 silencer Neighboring gene MPRA-validated peak7063 silencer Neighboring gene C8orf34 antisense RNA 1 Neighboring gene ribosomal protein L31 pseudogene 40 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:69372559-69373058 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:69422928-69424127 Neighboring gene ret finger protein like 4A pseudogene 2 Neighboring gene ribosomal protein S15a pseudogene 25 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:69552844-69553829 Neighboring gene RNA, 5S ribosomal pseudogene 269 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:69655931-69656489 Neighboring gene NANOG hESC enhancer GRCh37_chr8:69671922-69672423 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:69755751-69756502 Neighboring gene uncharacterized LOC107986951 Neighboring gene Sharpr-MPRA regulatory region 891 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:69837689-69838233 Neighboring gene long intergenic non-protein coding RNA 1592 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:69885119-69885678 Neighboring gene 8q13.2-q13.3 proximal HERV-mediated recombination region Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:69916922-69917442 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103601

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. The landscape of kinase fusions in cancer. Stransky N, et al. Nat Commun, 2014 Sep 10. PMID 25204415, Free PMC Article
  2. A genome-wide association study for irinotecan-related severe toxicities in patients with advanced non-small-cell lung cancer. Han JY, et al. Pharmacogenomics J, 2013 Oct. PMID 22664479
  3. Wnt signaling and Dupuytren's disease. Dolmans GH, et al. N Engl J Med, 2011 Jul 28. PMID 21732829
  4. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? Nathan JA, et al. EMBO J, 2013 Feb 20. PMID 23314748, Free PMC Article
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

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

EBI GWAS Catalog

Description
A genome-wide association study for irinotecan-related severe toxicities in patients with advanced non-small-cell lung cancer.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
Wnt signaling and Dupuytren's disease.
EBI GWAS Catalog

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

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

Clone Names

  • FLJ36872, FLJ37331, DKFZp547E186

General protein information

Go to the top of the page Help
Preferred Names
uncharacterized protein C8orf34
Names
protein VEST-1
vestibule-1 protein

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_055258.1 RefSeqGene

    Range
    5234..493302
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195639.2 → NP_001182568.1  uncharacterized protein C8orf34 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC067871, AC090096, AL834454, BC041961, T89089

  2. NM_001349476.1 → NP_001336405.1  uncharacterized protein C8orf34 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC011884, AC067871, AC083967, AC090096, BM684412

  3. NM_001349477.1 → NP_001336406.1  uncharacterized protein C8orf34 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon in the 3' coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AC011884, AC067871, AC083967, AC090096, BM684412

  4. NM_001349478.1 → NP_001336407.1  uncharacterized protein C8orf34 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate exon in the 5' coding region, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AC011884, AC067871, AC083967, AC090096, BM684412

  5. NM_001349479.1 → NP_001336408.1  uncharacterized protein C8orf34 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two exons in the 5' and 3' coding regions, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.
    Source sequence(s)
    AC011884, AC067871, AC083967, AC090096, BM684412

  6. NM_001349480.1 → NP_001336409.1  uncharacterized protein C8orf34 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. The encoded isoform (7) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC067871, AC090096, T89089

  7. NM_052958.4 → NP_443190.2  uncharacterized protein C8orf34 isoform 1

    See identical proteins and their annotated locations for NP_443190.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC083967, BC041961, BM684412
    Consensus CDS
    CCDS6203.2
    UniProtKB/Swiss-Prot
    A0A0C4DFS7, A8K5X1, G3XAM6, Q49A92, Q8N1X0, Q8N9M7, Q8ND19, Q96Q28
    Related
    ENSP00000427820.1, ENST00000518698.6

RNA

  1. NR_146186.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC011884, AC067871, AC083967, AC090096, BM684412

  2. NR_146187.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks an alternate internal exon and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC011884, AC067871, AC083967, AC090096, BM684412

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    68330373..68819023
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421328.1 → XP_047277284.1  uncharacterized protein C8orf34 isoform X1

  2. XM_047421329.1 → XP_047277285.1  uncharacterized protein C8orf34 isoform X2

  3. XM_011517449.3 → XP_011515751.1  uncharacterized protein C8orf34 isoform X3

  4. XM_011517450.3 → XP_011515752.1  uncharacterized protein C8orf34 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    68757073..69245732
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359722.1 → XP_054215697.1  uncharacterized protein C8orf34 isoform X1

  2. XM_054359723.1 → XP_054215698.1  uncharacterized protein C8orf34 isoform X2

  3. XM_054359724.1 → XP_054215699.1  uncharacterized protein C8orf34 isoform X3

  4. XM_054359725.1 → XP_054215700.1  uncharacterized protein C8orf34 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q49A92.3 GenPept UniProtKB/Swiss-Prot:Q49A92

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous