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Aliases for C12orf49 Gene

Aliases for C12orf49 Gene

  • Chromosome 12 Open Reading Frame 49 2 3 5

External Ids for C12orf49 Gene

Previous GeneCards Identifiers for C12orf49 Gene

  • GC12M115617
  • GC12M117153
  • GC12M114163

Summaries for C12orf49 Gene

GeneCards Summary for C12orf49 Gene

C12orf49 (Chromosome 12 Open Reading Frame 49) 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 C12orf49 Gene

Genomics for C12orf49 Gene

Regulatory Elements for C12orf49 Gene

Promoters for C12orf49 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C12orf49 on UCSC Golden Path with GeneCards custom track

Genomic Location for C12orf49 Gene

Chromosome:
12
Start:
116,710,185 bp from pter
End:
116,738,070 bp from pter
Size:
27,886 bases
Orientation:
Minus strand

Genomic View for C12orf49 Gene

Genes around C12orf49 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf49 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf49 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf49 Gene

Proteins for C12orf49 Gene

  • Protein details for C12orf49 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H741-CL049_HUMAN
    Recommended name:
    UPF0454 protein C12orf49
    Protein Accession:
    Q9H741
    Secondary Accessions:
    • Q53GE8

    Protein attributes for C12orf49 Gene

    Size:
    205 amino acids
    Molecular mass:
    23594 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C12orf49 Gene

Proteomics data for C12orf49 Gene at MOPED

Post-translational modifications for C12orf49 Gene

  • Glycosylation at Asn 67 and Thr 185
  • Modification sites at PhosphoSitePlus

Other Protein References for C12orf49 Gene

No data available for DME Specific Peptides for C12orf49 Gene

Domains & Families for C12orf49 Gene

Protein Domains for C12orf49 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C12orf49 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H741

UniProtKB/Swiss-Prot:

CL049_HUMAN :
  • Belongs to the UPF0454 family.
Family:
  • Belongs to the UPF0454 family.
genes like me logo Genes that share domains with C12orf49: view

No data available for Gene Families for C12orf49 Gene

Function for C12orf49 Gene

Phenotypes for C12orf49 Gene

genes like me logo Genes that share phenotypes with C12orf49: view

Animal Model Products

CRISPR Products

miRNA for C12orf49 Gene

miRTarBase miRNAs that target C12orf49

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 C12orf49 Gene

Localization for C12orf49 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C12orf49 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C12orf49 Gene COMPARTMENTS Subcellular localization image for C12orf49 gene
Compartment Confidence
extracellular 4
cytoskeleton 2
cytosol 2
mitochondrion 2
nucleus 2
golgi apparatus 1
lysosome 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for C12orf49 Gene

Pathways & Interactions for C12orf49 Gene

SuperPathways for C12orf49 Gene

No Data Available

Interacting Proteins for C12orf49 Gene

Gene Ontology (GO) - Biological Process for C12orf49 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C12orf49 Gene

Drugs & Compounds for C12orf49 Gene

No Compound Related Data Available

Transcripts for C12orf49 Gene

Unigene Clusters for C12orf49 Gene

Chromosome 12 open reading frame 49:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf49 Gene

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

Relevant External Links for C12orf49 Gene

GeneLoc Exon Structure for
C12orf49
ECgene alternative splicing isoforms for
C12orf49

Expression for C12orf49 Gene

mRNA expression in normal human tissues for C12orf49 Gene

Protein differential expression in normal tissues from HIPED for C12orf49 Gene

This gene is overexpressed in Vitreous humor (67.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for C12orf49 Gene



SOURCE GeneReport for Unigene cluster for C12orf49 Gene Hs.592011

genes like me logo Genes that share expression patterns with C12orf49: view

Protein tissue co-expression partners for C12orf49 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for C12orf49 Gene

Orthologs for C12orf49 Gene

This gene was present in the common ancestor of animals.

Orthologs for C12orf49 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C9H12orf49 35
  • 90.41 (n)
  • 96.1 (a)
C12orf49 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC102153143 35
  • 91.54 (n)
  • 94.63 (a)
-- 36
  • 55 (a)
OneToMany
-- 36
  • 32 (a)
OneToMany
-- 36
  • 95 (a)
OneToMany
mouse
(Mus musculus)
Mammalia 2410131K14Rik 35
  • 85.53 (n)
  • 92.68 (a)
2410131K14Rik 16
2410131K14Rik 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C12H12orf49 35
  • 99.67 (n)
  • 99.51 (a)
C12orf49 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1562310 35
  • 85.37 (n)
  • 92.2 (a)
oppossum
(Monodelphis domestica)
Mammalia C12orf49 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves C15H12ORF49 35
  • 80.81 (n)
  • 83.9 (a)
C15H12ORF49 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C12orf49 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c12orf49 35
  • 72.41 (n)
  • 81.28 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4670 35
zebrafish
(Danio rerio)
Actinopterygii Dr.15241 35
zgc:110063 35
  • 74.24 (n)
  • 79.8 (a)
C5H12orf49 36
  • 79 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.554 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000855 35
  • 52.18 (n)
  • 45.55 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15643 35
  • 56.52 (n)
  • 46.74 (a)
CG15643 36
  • 42 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToOne
Species with no ortholog for C12orf49:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 C12orf49 Gene

ENSEMBL:
Gene Tree for C12orf49 (if available)
TreeFam:
Gene Tree for C12orf49 (if available)

Paralogs for C12orf49 Gene

genes like me logo Genes that share paralogs with C12orf49: view

No data available for Paralogs for C12orf49 Gene

Variants for C12orf49 Gene

Sequence variations from dbSNP and Humsavar for C12orf49 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs10507274 - 116,723,171(+) TGGGC(C/T)GATTA intron-variant, reference, missense
rs180304 -- 116,726,583(-) TCCCA(A/G)GGCTC intron-variant
rs180305 -- 116,726,942(-) AACGC(A/G)TTGAA intron-variant
rs182889 -- 116,726,608(-) TGCAC(C/T)TAAGT intron-variant
rs339448 -- 116,726,341(-) TACAG(A/G)TGGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C12orf49 Gene

Variant ID Type Subtype PubMed ID
nsv832523 CNV Gain+Loss 17160897

Variation tolerance for C12orf49 Gene

Residual Variation Intolerance Score: 65.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.48; 55.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C12orf49 Gene

HapMap Linkage Disequilibrium report
C12orf49

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf49 Gene

Disorders for C12orf49 Gene

Relevant External Links for C12orf49

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C12orf49

No disorders were found for C12orf49 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C12orf49 Gene

Publications for C12orf49 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 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. A synthetic interaction screen identifies factors selectively required for proliferation and TERT transcription in p53-deficient human cancer cells. (PMID: 23284306) Xie L. … Green M.R. (PLoS Genet. 2012) 3
  4. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K. … Gorospe M. (EMBO J. 2009) 3
  5. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PMID: 8125298) Maruyama K. … Sugano S. (Gene 1994) 3

Products for C12orf49 Gene

Sources for C12orf49 Gene

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