Aliases for C12orf76 Gene

Aliases for C12orf76 Gene

  • Chromosome 12 Open Reading Frame 76 2 3 5
  • Uncharacterized Protein C12orf76 3 4
  • C12orf76 5
  • FLJ40142 2

External Ids for C12orf76 Gene

Previous GeneCards Identifiers for C12orf76 Gene

  • GC12M108963
  • GC12M110478
  • GC12M107494

Summaries for C12orf76 Gene

GeneCards Summary for C12orf76 Gene

C12orf76 (Chromosome 12 Open Reading Frame 76) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include ion channel activity and purinergic nucleotide receptor activity.

Additional gene information for C12orf76 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C12orf76 Gene

Genomics for C12orf76 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C12orf76 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
GH12J110073 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 600.7 -0.2 -168 1.6 PKNOX1 NR2C1 IKZF2 GABPA YY1 MGA NR2C2 ZFHX2 ESR1 GATA3 C12orf76 ENSG00000286220 lnc-GIT2-2 FAM216A LOC105369976 IFT81
GH12J110075 Enhancer 0.2 dbSUPER 600.7 -2.0 -1951 0.4 C12orf76 ENSG00000286220 lnc-GIT2-2 ARPC3 TRPV4 LOC105369976 IFT81
GH12J110046 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 18.3 +25.2 25246 3.1 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 RFX1 SIX5 GIT2 piR-38716-037 piR-58557-019 C12orf76 ANKRD13A TRPV4 GLTP FJ601684-086 ENSG00000286220 lnc-GIT2-2
GH12J110123 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.3 -51.1 -51140 2 HNRNPL CREB1 PRDM10 ZNF629 RFX1 IKZF1 KDM1A ZNF692 POLR2A JUND IFT81 ARPC3 C12orf76 UBE3B TCTN1 FAM216A HSALNG0093950 ATP2A2
GH12J110928 Enhancer 1.4 VISTA Ensembl ENCODE dbSUPER 13.2 -857.0 -857021 3.9 ARHGAP35 CREB1 CTCF KDM1A TARDBP PRDM1 ZSCAN4 REST ZNF239 ZNF311 IFT81 LINC01405 MAPKAPK5 C12orf76 RPS2P41 ATXN2 PPP1CC MYL2 CUX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C12orf76 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C12orf76

Top Transcription factor binding sites by QIAGEN in the C12orf76 gene promoter:
  • ATF6
  • LUN-1
  • NF-1
  • p53
  • POU3F2
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2
  • Zic3

Genomic Locations for C12orf76 Gene

Genomic Locations for C12orf76 Gene
chr12:110,027,028-110,073,639
(GRCh38/hg38)
Size:
46,612 bases
Orientation:
Minus strand
chr12:110,465,872-110,511,491
(GRCh37/hg19)
Size:
45,620 bases
Orientation:
Minus strand

Genomic View for C12orf76 Gene

Genes around C12orf76 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf76 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf76 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf76 Gene

Proteins for C12orf76 Gene

  • Protein details for C12orf76 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N812-CL076_HUMAN
    Recommended name:
    Uncharacterized protein C12orf76
    Protein Accession:
    Q8N812

    Protein attributes for C12orf76 Gene

    Size:
    135 amino acids
    Molecular mass:
    14959 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C12orf76 Gene

Post-translational modifications for C12orf76 Gene

No Post-translational modifications

Other Protein References for C12orf76 Gene

No data available for DME Specific Peptides for C12orf76 Gene

Domains & Families for C12orf76 Gene

Gene Families for C12orf76 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for C12orf76 Gene

InterPro:
Blocks:
  • Somatotropin hormone
ProtoNet:
genes like me logo Genes that share domains with C12orf76: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C12orf76 Gene

Function for C12orf76 Gene

Phenotypes From GWAS Catalog for C12orf76 Gene

Phenotypes for C12orf76 Gene

genes like me logo Genes that share phenotypes with C12orf76: view

Animal Model Products

CRISPR Products

miRNA for C12orf76 Gene

miRTarBase miRNAs that target C12orf76

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf76

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 C12orf76 Gene

Localization for C12orf76 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 C12orf76 gene
Compartment Confidence
extracellular 2
cytosol 1
nucleus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C12orf76 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with C12orf76: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C12orf76 Gene

Pathways & Interactions for C12orf76 Gene

PathCards logo

SuperPathways for C12orf76 Gene

No Data Available

Interacting Proteins for C12orf76 Gene

Selected Interacting proteins: Q8N812-CL076_HUMAN for C12orf76 Gene via IID

Symbol External ID(s) Details
CDC37
FKBP5

Gene Ontology (GO) - Biological Process for C12orf76 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C12orf76 Gene

Drugs & Compounds for C12orf76 Gene

No Compound Related Data Available

Transcripts for C12orf76 Gene

mRNA/cDNA for C12orf76 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
9 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 C12orf76

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf76 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d
SP1: - - - - -
SP2: -
SP3: - -
SP4: -

Relevant External Links for C12orf76 Gene

GeneLoc Exon Structure for
C12orf76

Expression for C12orf76 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C12orf76 Gene

mRNA differential expression in normal tissues according to GTEx for C12orf76 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.4).

Protein differential expression in normal tissues from HIPED for C12orf76 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C12orf76 Gene



Protein tissue co-expression partners for C12orf76 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C12orf76

SOURCE GeneReport for Unigene cluster for C12orf76 Gene:

Hs.44817

Evidence on tissue expression from TISSUES for C12orf76 Gene

  • Nervous system(3.8)
genes like me logo Genes that share expression patterns with C12orf76: view

Primer Products

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 C12orf76 Gene

Orthologs for C12orf76 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for C12orf76 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C12H12orf76 30
  • 99.26 (n)
C12orf76 31
  • 99 (a)
OneToOne
Species where no ortholog for C12orf76 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for C12orf76 Gene

ENSEMBL:
Gene Tree for C12orf76 (if available)
TreeFam:
Gene Tree for C12orf76 (if available)

Paralogs for C12orf76 Gene

Pseudogenes.org Pseudogenes for C12orf76 Gene

genes like me logo Genes that share paralogs with C12orf76: view

No data available for Paralogs for C12orf76 Gene

Variants for C12orf76 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C12orf76 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
VAR_039916 A colorectal cancer sample p.Ala26Thr

Additional dbSNP identifiers (rs#s) for C12orf76 Gene

Structural Variations from Database of Genomic Variants (DGV) for C12orf76 Gene

Variant ID Type Subtype PubMed ID
esv2761769 CNV loss 21179565
nsv1134262 CNV deletion 24896259
nsv1144647 CNV deletion 24896259
nsv977146 CNV duplication 23825009

Variation tolerance for C12orf76 Gene

Residual Variation Intolerance Score: 60.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C12orf76 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C12orf76

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf76 Gene

Disorders for C12orf76 Gene

Additional Disease Information for C12orf76

No disorders were found for C12orf76 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C12orf76 Gene

Publications for C12orf76 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. Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin. (PMID: 19729612) Paterson AD … Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Research Group (Arteriosclerosis, thrombosis, and vascular biology 2009) 41
  3. The consensus coding sequences of human breast and colorectal cancers. (PMID: 16959974) Sjöblom T … Velculescu VE (Science (New York, N.Y.) 2006) 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

Products for C12orf76 Gene

Sources for C12orf76 Gene