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Aliases for C12orf40 Gene

Aliases for C12orf40 Gene

  • Chromosome 12 Open Reading Frame 40 2 3
  • Uncharacterized Protein C12orf40 3
  • Epididymis Luminal Protein 206 3
  • HEL-206 3

External Ids for C12orf40 Gene

Previous GeneCards Identifiers for C12orf40 Gene

  • GC12P038307
  • GC12P040019
  • GC12P037046

Summaries for C12orf40 Gene

GeneCards Summary for C12orf40 Gene

C12orf40 (Chromosome 12 Open Reading Frame 40) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C12orf40 Gene

Genomics for C12orf40 Gene

Regulatory Elements for C12orf40 Gene

Genomic Location for C12orf40 Gene

Start:
39,626,167 bp from pter
End:
39,908,300 bp from pter
Size:
282,134 bases
Orientation:
Plus strand

Genomic View for C12orf40 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C12orf40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf40 Gene

Proteins for C12orf40 Gene

  • Protein details for C12orf40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WS4-CL040_HUMAN
    Recommended name:
    Uncharacterized protein C12orf40
    Protein Accession:
    Q86WS4
    Secondary Accessions:
    • B7WNU1
    • Q8IXY6
    • Q8N818
    • V9HW02

    Protein attributes for C12orf40 Gene

    Size:
    652 amino acids
    Molecular mass:
    74505 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH38754.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for C12orf40 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C12orf40 Gene

Proteomics data for C12orf40 Gene at MOPED

Post-translational modifications for C12orf40 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C12orf40 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C12orf40 Gene

Domains for C12orf40 Gene

Protein Domains for C12orf40 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C12orf40: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C12orf40 Gene

Function for C12orf40 Gene

Gene Ontology (GO) - Molecular Function for C12orf40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C12orf40: view

Phenotypes for C12orf40 Gene

GenomeRNAi human phenotypes for C12orf40:
genes like me logo Genes that share phenotypes with C12orf40: view

miRNA for C12orf40 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for C12orf40 Gene

Localization for C12orf40 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C12orf40 Gene COMPARTMENTS Subcellular localization image for C12orf40 gene
Compartment Confidence
nucleus 3
cytosol 2
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C12orf40 Gene

Pathways for C12orf40 Gene

SuperPathways for C12orf40 Gene

No Data Available

Interacting Proteins for C12orf40 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000317671%0d%0a9606.ENSP00000240343%0d%0a
Selected Interacting proteins: ENSP00000317671 Q86WS4-CL040_HUMAN for C12orf40 Gene via STRING UniProtKB

Gene Ontology (GO) - Biological Process for C12orf40 Gene

None

No data available for Pathways by source for C12orf40 Gene

Transcripts for C12orf40 Gene

mRNA/cDNA for C12orf40 Gene

(5) REFSEQ mRNAs :
(13) Selected AceView cDNA sequences:
(2) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C12orf40 Gene

Chromosome 12 open reading frame 40:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf40 Gene

No ASD Table

Relevant External Links for C12orf40 Gene

GeneLoc Exon Structure for
C12orf40
ECgene alternative splicing isoforms for
C12orf40

Expression for C12orf40 Gene

mRNA expression in normal human tissues for C12orf40 Gene

mRNA differential expression in normal tissues according to GTEx for C12orf40 Gene

This gene is overexpressed in Testis (43.1).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for C12orf40 Gene

SOURCE GeneReport for Unigene cluster for C12orf40 Gene Hs.648205

genes like me logo Genes that share expressions with C12orf40: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for C12orf40 Gene

Orthologs for C12orf40 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C12orf40 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C12H12orf40 35
  • 99.44 (n)
  • 98.31 (a)
C12orf40 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C12orf40 36
  • 65 (a)
OneToOne
C5H12orf40 35
  • 82.58 (n)
  • 66.05 (a)
dog
(Canis familiaris)
Mammalia C12orf40 36
  • 71 (a)
OneToOne
C27H12orf40 35
  • 83.65 (n)
  • 70.25 (a)
mouse
(Mus musculus)
Mammalia CN725425 16
CN725425 36
  • 53 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C12orf40 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 35 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC690142 35
  • 71.14 (n)
  • 52.73 (a)
chicken
(Gallus gallus)
Aves C12orf40 36
  • 27 (a)
OneToOne
C1H12orf40 35
  • 51.43 (n)
  • 34.36 (a)
Species with no ortholog for C12orf40:
  • A. gosspyii yeast (Ashbya 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)
  • lizard (Anolis carolinensis)
  • 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 squirt (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 C12orf40 Gene

ENSEMBL:
Gene Tree for C12orf40 (if available)
TreeFam:
Gene Tree for C12orf40 (if available)

Paralogs for C12orf40 Gene

No data available for Paralogs for C12orf40 Gene

Variants for C12orf40 Gene

Sequence variations from dbSNP and Humsavar for C12orf40 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs4077987 -- 39,628,227(-) GCAGT(G/T)TATCT intron-variant
rs4128520 -- 39,684,649(-) CTGGA(C/G)CTGCA intron-variant
rs4129365 -- 39,659,621(+) atctt(C/T)catgt intron-variant
rs4129477 -- 39,639,841(+) TCATT(G/T)TACTT intron-variant
rs4275559 -- 39,635,168(+) GGAGA(A/C)ACAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C12orf40 Gene

Variant ID Type Subtype PubMed ID
dgv197n27 CNV Loss 19166990
dgv1412n71 CNV Loss 21882294
dgv1414n71 CNV Loss 21882294
nsv899022 CNV Loss 21882294
esv271024 CNV Insertion 20981092
nsv899023 CNV Loss 21882294
nsv899024 CNV Loss 21882294
esv1444745 CNV Insertion 17803354
esv2452886 CNV Loss 19546169
esv2745776 CNV Deletion 23290073
esv2745777 CNV Deletion 23290073
esv2745778 CNV Deletion 23290073
nsv53793 CNV Loss 16902084
esv1277090 CNV Insertion 17803354

Relevant External Links for C12orf40 Gene

HapMap Linkage Disequilibrium report
C12orf40

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf40 Gene

Disorders for C12orf40 Gene

No disorders were found for C12orf40 Gene.

No data available for UniProtKB/Swiss-Prot for C12orf40 Gene

Publications for C12orf40 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4
  5. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer S.E. … Gibbs R.A. (Nature 2006) 4

Products for C12orf40 Gene

Sources for C12orf40 Gene

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