Aliases for C12orf49 Gene

Aliases for C12orf49 Gene

  • Chromosome 12 Open Reading Frame 49 2 3 5
  • UPF0454 Protein C12orf49 3 4

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. Diseases associated with C12orf49 include Complex Chromosomal Rearrangement.

Additional gene information for C12orf49 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 C12orf49 Gene

Genomics for C12orf49 Gene

GeneHancer (GH) Regulatory Elements for C12orf49 Gene

Promoters and enhancers for C12orf49 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
GH12J116735 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 750.6 +0.5 456 3.6 SIN3A ZBTB40 SP1 CTCF SREBF1 RBPJ SMARCE1 POLR2A TCF7L2 CTBP1 C12orf49 HSALNG0094347 RNFT2 FBXW8 MED13L ENSG00000258034 RPL36P15 FBXO21 MAP1LC3B2 piR-37701
GH12J116716 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 12.1 +20.6 20557 1.3 ZSCAN21 PRDM1 ZNF680 GLIS2 ZIC2 PRDM10 ZEB2 PATZ1 ZNF501 ZNF692 C12orf49 RNFT2 lnc-C12orf49-3 piR-49432
GH12J116713 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 12.1 +25.1 25143 1.1 SP7 ZSCAN21 GLIS2 ZIC2 ZBTB8A PRDM10 ZNF639 ZEB2 ZNF629 PATZ1 lnc-C12orf49-3 C12orf49 RNFT2 piR-49432
GH12J116714 Enhancer 0.4 Ensembl 12.1 +24.0 23970 1 ZBTB6 ZIC2 PRDM10 ZNF423 lnc-C12orf49-3 C12orf49 RNFT2 piR-49432
GH12J116802 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 1.5 -65.8 -65830 3.8 ZNF121 MAFK ZNF239 NFIC FOXA1 ENSG00000239374 HRK C12orf49 ENSG00000275467 piR-38051-078 RNFT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C12orf49 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C12orf49 gene promoter:
  • CBF-A
  • CBF-B
  • CBF-C
  • Egr-4
  • Msx-1
  • p53
  • SEF-1 (1)
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for C12orf49 Gene

Genomic Locations for C12orf49 Gene
chr12:116,710,171-116,738,070
(GRCh38/hg38)
Size:
27,900 bases
Orientation:
Minus strand
chr12:117,153,593-117,175,875
(GRCh37/hg19)
Size:
22,283 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

Post-translational modifications for C12orf49 Gene

  • Glycosylation at Asn67 and Thr185
  • 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

Gene Families for C12orf49 Gene

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

Protein Domains for C12orf49 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C12orf49 Gene

GenScript: Design optimal peptide antigens:
  • UPF0454 protein C12orf49 (CL049_HUMAN)

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

Function for C12orf49 Gene

Phenotypes From GWAS Catalog for C12orf49 Gene

Gene Ontology (GO) - Molecular Function for C12orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C12orf49: view
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

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
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 C12orf49 gene
Compartment Confidence
extracellular 4
cytoskeleton 2
plasma membrane 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for C12orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with C12orf49: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C12orf49 Gene

Pathways & Interactions for C12orf49 Gene

PathCards logo

SuperPathways for C12orf49 Gene

No Data Available

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

CRISPR Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for C12orf49 Gene



Protein tissue co-expression partners for C12orf49 Gene

NURSA nuclear receptor signaling pathways regulating expression of C12orf49 Gene:

C12orf49

SOURCE GeneReport for Unigene cluster for C12orf49 Gene:

Hs.592011

Evidence on tissue expression from TISSUES for C12orf49 Gene

  • Intestine(4.3)
genes like me logo Genes that share expression patterns with C12orf49: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia C12orf49 33
  • 100 (a)
OneToOne
C12H12orf49 32
  • 99.67 (n)
cow
(Bos Taurus)
Mammalia C12orf49 33
  • 96 (a)
OneToOne
C9H12orf49 32
  • 90.41 (n)
dog
(Canis familiaris)
Mammalia -- 33
  • 95 (a)
OneToMany
LOC102153143 32
  • 91.54 (n)
-- 33
  • 55 (a)
OneToMany
-- 33
  • 32 (a)
OneToMany
mouse
(Mus musculus)
Mammalia 2410131K14Rik 17 33 32
  • 85.53 (n)
rat
(Rattus norvegicus)
Mammalia RGD1562310 32
  • 85.37 (n)
oppossum
(Monodelphis domestica)
Mammalia C12orf49 33
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves C15H12ORF49 33 32
  • 80.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C12orf49 33
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c12orf49 32
  • 72.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4670 32
zebrafish
(Danio rerio)
Actinopterygii C5H12orf49 33
  • 79 (a)
OneToOne
zgc:110063 32
  • 74.24 (n)
Dr.15241 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.554 32
fruit fly
(Drosophila melanogaster)
Insecta CG15643 33 32
  • 56.52 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000855 32
  • 52.18 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 46 (a)
OneToOne
Species where no ortholog for C12orf49 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000244233 -- 116,738,242(-) C/G/T upstream_transcript_variant
rs1000319004 -- 116,738,454(-) C/A upstream_transcript_variant
rs1000580260 -- 116,739,522(-) C/G upstream_transcript_variant
rs1000653651 -- 116,739,745(-) A/C/T upstream_transcript_variant
rs1000653913 -- 116,732,402(-) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
esv3630848 CNV gain 21293372
nsv1039046 CNV gain 25217958
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)

Additional Variant Information for C12orf49 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C12orf49

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

Disorders for C12orf49 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C12orf49 Gene - From: GeneCards

Disorder Aliases PubMed IDs
complex chromosomal rearrangement
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C12orf49

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

No data available for 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 RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 56
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  3. RNA sequencing of esophageal adenocarcinomas identifies novel fusion transcripts, including NPC1-MELK, arising from a complex chromosomal rearrangement. (PMID: 28640357) Wang Z … Meltzer SJ (Cancer 2017) 3 56
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 56
  5. A synthetic interaction screen identifies factors selectively required for proliferation and TERT transcription in p53-deficient human cancer cells. (PMID: 23284306) Xie L … Green MR (PLoS genetics 2012) 3 56

Products for C12orf49 Gene

Sources for C12orf49 Gene