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Aliases for C12orf40 Gene

Aliases for C12orf40 Gene

  • Chromosome 12 Open Reading Frame 40 2 3 5
  • Epididymis Secretory Protein Li 94 3
  • Epididymis Luminal Protein 206 3
  • HEL-S-94 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

Enhancers for C12orf40 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around C12orf40 on UCSC Golden Path with GeneCards custom track

Promoters for C12orf40 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C12orf40 on UCSC Golden Path with GeneCards custom track

Genomic Location for C12orf40 Gene

Chromosome:
12
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

Genes around C12orf40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

No data available for DME Specific Peptides for C12orf40 Gene

Domains & Families 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

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

Animal Model Products

CRISPR Products

miRNA for C12orf40 Gene

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 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

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

Pathways & Interactions 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: Q86WS4-CL040_HUMAN ENSP00000317671 for C12orf40 Gene via UniProtKB STRING

Gene Ontology (GO) - Biological Process for C12orf40 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C12orf40 Gene

Drugs & Compounds for C12orf40 Gene

No Compound Related Data Available

Transcripts for C12orf40 Gene

mRNA/cDNA for C12orf40 Gene

(5) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(13) Selected AceView cDNA 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 (x43.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C12orf40 Gene



SOURCE GeneReport for Unigene cluster for C12orf40 Gene Hs.648205

genes like me logo Genes that share expression patterns with C12orf40: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia C5H12orf40 35
  • 82.58 (n)
  • 66.05 (a)
C12orf40 36
  • 65 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C27H12orf40 35
  • 83.65 (n)
  • 70.25 (a)
C12orf40 36
  • 71 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C12H12orf40 35
  • 99.44 (n)
  • 98.31 (a)
C12orf40 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC690142 35
  • 71.14 (n)
  • 52.73 (a)
oppossum
(Monodelphis domestica)
Mammalia C12orf40 36
  • 57 (a)
OneToOne
mouse
(Mus musculus)
Mammalia CN725425 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 35 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves C1H12orf40 35
  • 51.43 (n)
  • 34.36 (a)
C12orf40 36
  • 27 (a)
OneToOne
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
VAR_061610 -
rs7136767 -- 39,672,886(+) AGGAG(C/T)TGCTT intron-variant
rs7136929 -- 39,681,058(+) cctga(A/G)gtcag intron-variant
rs7296585 -- 39,682,423(+) AAGTC(A/G)TTAGA intron-variant
rs12815729 -- 39,711,489(+) tatat(A/G)tatat 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

Variation tolerance for C12orf40 Gene

Residual Variation Intolerance Score: 79.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.33; 76.72% of all genes are more intolerant (likely to be disease-causing)

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

Relevant External Links for C12orf40

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C12orf40

No disorders were found for C12orf40 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C12orf40 Gene

Publications for C12orf40 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 67
  2. 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
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for C12orf40 Gene

Sources for C12orf40 Gene

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