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] See more...

Aliases for C8orf34 Gene

Aliases for C8orf34 Gene

  • Chromosome 8 Open Reading Frame 34 2 3 5
  • Uncharacterized Protein C8orf34 3 4
  • Protein VEST-1 3 4
  • VEST1 2 3
  • Vestibule-1 Protein 3
  • Vestibule 1 2
  • C8orf34 5
  • VEST-1 3
  • Vest-1 2

External Ids for C8orf34 Gene

Previous GeneCards Identifiers for C8orf34 Gene

  • GC08P069406
  • GC08P069242
  • GC08P064842

Summaries for C8orf34 Gene

Entrez Gene Summary for C8orf34 Gene

  • 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]

GeneCards Summary for C8orf34 Gene

C8orf34 (Chromosome 8 Open Reading Frame 34) is a Protein Coding gene. Diseases associated with C8orf34 include Familial Renal Papillary Carcinoma and Branchiootorenal Syndrome.

Additional gene information for C8orf34 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C8orf34 Gene

Genomics for C8orf34 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C8orf34 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J068330 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.1 1072 2.7 ZNF629 KDM1A ZNF692 PRDM1 RFX1 ZSCAN4 PATZ1 ZNF501 EZH2 ZNF341 C8orf34-AS1 C8orf34
GH08J068152 Enhancer 0.9 Ensembl 10.5 -177.3 -177284 1 ZNF512 LEF1 JUND PKNOX1 ZNF24 ZNF740 DPF2 HDAC1 SOX6 TCF12 C8orf34-AS1 C8orf34 ENSG00000254051 lnc-C8orf34-2 RF00017-7110 PREX2
GH08J068256 Enhancer 0.8 Ensembl ENCODE 10.9 -73.0 -72994 1.7 CTCF ZIC2 REST RAD21 ZNF561 ARNT SMARCA5 NFE2 CEBPB ZNF316 C8orf34 C8orf34-AS1 lnc-PREX2-2 lnc-CPA6-5 RPL31P40 PREX2
GH08J068215 Enhancer 0.7 Ensembl 10.2 -115.3 -115272 0.2 PKNOX1 MTA1 HDAC1 FOXJ2 TCF12 EP300 NCOR1 FOXM1 ZNF384 DPF2 C8orf34 C8orf34-AS1 ENSG00000252210 ENSG00000254051 lnc-C8orf34-2 PREX2
GH08J068229 Enhancer 0.6 Ensembl ENCODE 10.5 -100.5 -100463 1.8 NANOG BACH1 MAFK C8orf34 C8orf34-AS1 lnc-PREX2-2 ENSG00000252210 PREX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C8orf34 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C8orf34

Top Transcription factor binding sites by QIAGEN in the C8orf34 gene promoter:
  • Arnt
  • E47
  • MyoD
  • RSRFC4
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • Tal-1beta
  • USF1
  • Zic1

Genomic Locations for C8orf34 Gene

Genomic Locations for C8orf34 Gene
chr8:68,330,373-68,819,023
(GRCh38/hg38)
Size:
488,651 bases
Orientation:
Plus strand
chr8:69,242,957-69,731,258
(GRCh37/hg19)
Size:
488,302 bases
Orientation:
Plus strand

Genomic View for C8orf34 Gene

Genes around C8orf34 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C8orf34 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C8orf34 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C8orf34 Gene

Proteins for C8orf34 Gene

  • Protein details for C8orf34 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q49A92-CH034_HUMAN
    Recommended name:
    Uncharacterized protein C8orf34
    Protein Accession:
    Q49A92
    Secondary Accessions:
    • A0A0C4DFS7
    • A8K5X1
    • G3XAM6
    • Q8N1X0
    • Q8N9M7
    • Q8ND19
    • Q96Q28

    Protein attributes for C8orf34 Gene

    Size:
    538 amino acids
    Molecular mass:
    59434 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH41961.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH41961.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for C8orf34 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C8orf34 Gene

Post-translational modifications for C8orf34 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C8orf34 Gene

Domains & Families for C8orf34 Gene

Gene Families for C8orf34 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C8orf34 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C8orf34 Gene

GenScript: Design optimal peptide antigens:
  • Protein VEST-1 (CH034_HUMAN)
genes like me logo Genes that share domains with C8orf34: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C8orf34 Gene

Function for C8orf34 Gene

Phenotypes From GWAS Catalog for C8orf34 Gene

genes like me logo Genes that share phenotypes with C8orf34: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C8orf34

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C8orf34 Gene

Localization for C8orf34 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C8orf34 gene
Compartment Confidence
nucleus 2
extracellular 1
cytoskeleton 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
  • Golgi apparatus (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C8orf34 Gene

Pathways & Interactions for C8orf34 Gene

PathCards logo

SuperPathways for C8orf34 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C8orf34 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C8orf34 Gene

Drugs & Compounds for C8orf34 Gene

(1) Drugs for C8orf34 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Irinotecan Approved, Investigational Pharma Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1414
genes like me logo Genes that share compounds with C8orf34: view

Transcripts for C8orf34 Gene

mRNA/cDNA for C8orf34 Gene

7 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C8orf34

Alternative Splicing Database (ASD) splice patterns (SP) for C8orf34 Gene

No ASD Table

Relevant External Links for C8orf34 Gene

GeneLoc Exon Structure for
C8orf34

Expression for C8orf34 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C8orf34 Gene

mRNA differential expression in normal tissues according to GTEx for C8orf34 Gene

This gene is overexpressed in Artery - Aorta (x4.0).

Protein differential expression in normal tissues from HIPED for C8orf34 Gene

This gene is overexpressed in Adipocyte (25.4), Rectum (25.2), and Prostate (15.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C8orf34 Gene



Protein tissue co-expression partners for C8orf34 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C8orf34

SOURCE GeneReport for Unigene cluster for C8orf34 Gene:

Hs.491941

Evidence on tissue expression from TISSUES for C8orf34 Gene

  • Nervous system(2.8)
genes like me logo Genes that share expression patterns with C8orf34: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C8orf34 Gene

Orthologs for C8orf34 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C8orf34 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C8H8orf34 30 31
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia C29H8orf34 30 31
  • 92.09 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C8orf34 31
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia A830018L16Rik 30 17 31
  • 87.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1564053 30
  • 87.41 (n)
Cow
(Bos Taurus)
Mammalia C14H8orf34 30 31
  • 86.85 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 86 (a)
OneToMany
-- 31
  • 82 (a)
OneToMany
Chicken
(Gallus gallus)
Aves C8ORF34 30
  • 79.63 (n)
C8orf34 31
  • 55 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C8orf34 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100492224 30
  • 75.77 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:162928 30
  • 70.58 (n)
C24H8orf34 31
  • 46 (a)
OneToOne
Species where no ortholog for C8orf34 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for C8orf34 Gene

ENSEMBL:
Gene Tree for C8orf34 (if available)
TreeFam:
Gene Tree for C8orf34 (if available)

Paralogs for C8orf34 Gene

No data available for Paralogs for C8orf34 Gene

Variants for C8orf34 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C8orf34 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs1517114 Drug Response: irinotecan response - Toxicity/ADR 68,476,982(+) C/G INTRON_VARIANT
VAR_042690 A colorectal cancer sample p.Lys161Asn
rs16935065 - p.Ala512Thr

Additional dbSNP identifiers (rs#s) for C8orf34 Gene

Structural Variations from Database of Genomic Variants (DGV) for C8orf34 Gene

Variant ID Type Subtype PubMed ID
dgv7238n100 CNV gain 25217958
esv2088334 CNV deletion 18987734
esv2178446 CNV deletion 18987734
esv2587232 CNV deletion 19546169
esv2664364 CNV deletion 23128226
esv2670093 CNV deletion 23128226
esv2737127 CNV deletion 23290073
esv2737129 CNV deletion 23290073
esv2737130 CNV deletion 23290073
esv27776 CNV loss 19812545
esv3451031 CNV insertion 20981092
esv3543619 CNV deletion 23714750
esv3576584 CNV gain 25503493
esv3617519 CNV gain 21293372
esv3617522 CNV gain 21293372
esv3617523 CNV loss 21293372
esv3617525 CNV loss 21293372
esv3617526 CNV loss 21293372
esv3617532 CNV loss 21293372
esv3891408 CNV gain 25118596
nsv1023815 CNV loss 25217958
nsv1031040 CNV loss 25217958
nsv1068714 OTHER inversion 25765185
nsv1075143 CNV deletion 25765185
nsv1115104 CNV deletion 24896259
nsv1161769 CNV duplication 26073780
nsv397515 CNV deletion 16902084
nsv465703 CNV gain 19166990
nsv476532 CNV novel sequence insertion 20440878
nsv508512 CNV deletion 20534489
nsv519549 CNV gain 19592680
nsv520587 CNV loss 19592680
nsv611462 CNV gain 21841781
nsv818636 CNV gain 17921354
nsv820237 CNV gain 19587683
nsv831349 CNV gain 17160897
nsv957681 CNV deletion 24416366
nsv981949 CNV duplication 23825009

Variation tolerance for C8orf34 Gene

Residual Variation Intolerance Score: 33.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.54; 82.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C8orf34 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C8orf34

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C8orf34 Gene

Disorders for C8orf34 Gene

MalaCards: The human disease database

(3) MalaCards diseases for C8orf34 Gene - From: DISEASES

Disorder Aliases PubMed IDs
familial renal papillary carcinoma
  • hereditary papillary renal carcinoma
branchiootorenal syndrome
  • branchiootorenal dysplasia
renal cell carcinoma, papillary, 1
  • rccp1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C8orf34

genes like me logo Genes that share disorders with C8orf34: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C8orf34 Gene

Publications for C8orf34 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3

Products for C8orf34 Gene

  • Biorbyt antibodies for C8orf34

Sources for C8orf34 Gene