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Aliases for C8orf49 Gene

Subcategory (RNA class) for C8orf49 Gene

lncRNA

Aliases for C8orf49 Gene

  • Chromosome 8 Open Reading Frame 49 (Putative) 2 3 5
  • GATA4 Downstream Membrane Protein 2 3
  • Putative Uncharacterized Protein C8orf49 3
  • Chromosome 8 Open Reading Frame 49 2
  • G4DM 3

External Ids for C8orf49 Gene

ORGUL Members for C8orf49 Gene

Previous GeneCards Identifiers for C8orf49 Gene

  • GC08U900584
  • GC08P011658
  • GC08P011618

Summaries for C8orf49 Gene

GeneCards Summary for C8orf49 Gene

C8orf49 (Chromosome 8 Open Reading Frame 49 (Putative)) is a Protein Coding gene, and is affiliated with the lncRNA class.

Additional gene information for C8orf49 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C8orf49 Gene

Genomics for C8orf49 Gene

GeneHancer (GH) Regulatory Elements for C8orf49 Gene

Promoters and enhancers for C8orf49 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
GH08J011761 Enhancer 1.2 Ensembl ENCODE dbSUPER 662.5 +1.1 1125 1.1 HDAC1 PKNOX1 SMAD1 ATF1 ARNT ZSCAN4 ZBTB40 TCF12 EGR1 FOS C8orf49 NEIL2 ENSG00000255122 LOC101929290 PINX1
GH08J011759 Enhancer 0.5 ENCODE dbSUPER 650.7 -1.6 -1629 0.2 POLR2A C8orf49 CTSB GATA4
GH08J011768 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.8 +8.6 8640 2.7 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 POLR2B NEIL2 PIR40911 ENSG00000255122 FDFT1 LOC105379243 PINX1 C8orf49 CTSB LOC101929290 BLK
GH08J011795 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 11.9 +35.4 35394 2.6 HDAC1 PKNOX1 ZNF335 ZFP91 ATF7 SMARCA5 NFYC ZNF148 ZFP69B ZSCAN16 FDFT1 NEIL2 CTSB C8orf49 LOC105379243
GH08J011885 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 11.6 +124.9 124930 1.4 HDAC1 CEBPG ZNF316 NFE2 MAFK NFE2L2 ZNF3 MAFG CEBPB ZGPAT PIR55200 CTSB NEIL2 C8orf49 DEFB136 DEFB135 FDFT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C8orf49 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C8orf49 gene promoter:
  • CUTL1
  • IRF-2
  • HFH-3
  • FOXI1
  • C/EBPalpha
  • Sox9
  • E47
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for C8orf49 Gene

Genomic Locations for C8orf49 Gene
chr8:11,761,256-11,763,223
(GRCh38/hg38)
Size:
1,968 bases
Orientation:
Plus strand
chr8:11,618,765-11,620,309
(GRCh37/hg19)
Size:
1,545 bases
Orientation:
Plus strand

Genomic View for C8orf49 Gene

Genes around C8orf49 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C8orf49 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C8orf49 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C8orf49 Gene

Proteins for C8orf49 Gene

  • Protein details for C8orf49 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NF6-CH049_HUMAN
    Recommended name:
    Putative uncharacterized protein C8orf49
    Protein Accession:
    Q96NF6

    Protein attributes for C8orf49 Gene

    Size:
    230 amino acids
    Molecular mass:
    25558 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C8orf49 Gene

Post-translational modifications for C8orf49 Gene

No Post-translational modifications

Other Protein References for C8orf49 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for C8orf49 Gene

Domains & Families for C8orf49 Gene

Protein Domains for C8orf49 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for C8orf49 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C8orf49: view

No data available for Gene Families and UniProtKB/Swiss-Prot for C8orf49 Gene

Function for C8orf49 Gene

Phenotypes From GWAS Catalog for C8orf49 Gene

genes like me logo Genes that share phenotypes with C8orf49: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C8orf49

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C8orf49 Gene

Localization for C8orf49 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C8orf49 Gene

Membrane; Single-pass membrane protein.

Gene Ontology (GO) - Cellular Components for C8orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with C8orf49: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for C8orf49 Gene

Pathways & Interactions for C8orf49 Gene

SuperPathways for C8orf49 Gene

No Data Available

Interacting Proteins for C8orf49 Gene

Gene Ontology (GO) - Biological Process for C8orf49 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C8orf49 Gene

Drugs & Compounds for C8orf49 Gene

No Compound Related Data Available

Transcripts for C8orf49 Gene

mRNA/cDNA for C8orf49 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
(2) RNA Central transcripts :

Unigene Clusters for C8orf49 Gene

Chromosome 8 open reading frame 49:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C8orf49

Alternative Splicing Database (ASD) splice patterns (SP) for C8orf49 Gene

No ASD Table

Relevant External Links for C8orf49 Gene

GeneLoc Exon Structure for
C8orf49
ECgene alternative splicing isoforms for
C8orf49

Expression for C8orf49 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C8orf49 Gene

mRNA differential expression in normal tissues according to GTEx for C8orf49 Gene

This gene is overexpressed in Ovary (x10.2), Heart - Left Ventricle (x8.7), Heart - Atrial Appendage (x7.6), Pancreas (x6.5), Artery - Coronary (x5.1), and Stomach (x4.8).

NURSA nuclear receptor signaling pathways regulating expression of C8orf49 Gene:

C8orf49

SOURCE GeneReport for Unigene cluster for C8orf49 Gene:

Hs.545529

Evidence on tissue expression from TISSUES for C8orf49 Gene

  • Heart(4)
genes like me logo Genes that share expression patterns with C8orf49: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C8orf49 Gene

Orthologs for C8orf49 Gene

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

Orthologs for C8orf49 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C8orf49 34
  • 92 (a)
OneToOne
Species where no ortholog for C8orf49 was found in the sources mined by GeneCards:
  • 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)
  • 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 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 C8orf49 Gene

ENSEMBL:
Gene Tree for C8orf49 (if available)
TreeFam:
Gene Tree for C8orf49 (if available)

Paralogs for C8orf49 Gene

No data available for Paralogs for C8orf49 Gene

Variants for C8orf49 Gene

Sequence variations from dbSNP and Humsavar for C8orf49 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs12458 pathogenic, Congenital heart disease 11,759,731(+) A/T upstream_transcript_variant
rs549543886 pathogenic, Congenital heart disease 11,759,643(+) T/C upstream_transcript_variant
rs804290 pathogenic, Congenital heart disease 11,759,327(+) G/A upstream_transcript_variant
rs1000046467 -- 11,762,763(+) A/T non_coding_transcript_variant
rs1000078517 -- 11,762,897(+) G/A non_coding_transcript_variant

Variation tolerance for C8orf49 Gene

Gene Damage Index Score: 5.77; 73.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C8orf49 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C8orf49

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for C8orf49 Gene

Disorders for C8orf49 Gene

Additional Disease Information for C8orf49

No disorders were found for C8orf49 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C8orf49 Gene

Publications for C8orf49 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. Genetic analysis of the promoter region of the GATA4 gene in patients with ventricular septal defects. (PMID: 22500510) Wu G … Yan B (Translational research : the journal of laboratory and clinical medicine 2012) 3 58
  3. 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 58

Products for C8orf49 Gene

Sources for C8orf49 Gene

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