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Aliases for C5orf49 Gene

Aliases for C5orf49 Gene

  • Chromosome 5 Open Reading Frame 49 2 3 5

External Ids for C5orf49 Gene

Summaries for C5orf49 Gene

GeneCards Summary for C5orf49 Gene

C5orf49 (Chromosome 5 Open Reading Frame 49) is a Protein Coding gene.

Additional gene information for C5orf49 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 C5orf49 Gene

Genomics for C5orf49 Gene

Regulatory Elements for C5orf49 Gene

Enhancers for C5orf49 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H007802 1 FANTOM5 ENCODE 11.7 +48.4 48408 0.4 MAFG CEBPB MAX CEBPG EP300 ATF2 ZNF316 CREB1 ATF7 MYC MTRR C5orf49 ENSG00000250761 ADCY2
GH05H007393 1.2 FANTOM5 ENCODE dbSUPER 6.5 +455.8 455778 3.5 CTCF MAZ SP3 ZNF362 REST ZNF398 ZFHX2 GLIS2 POLR2A ZBTB26 ADCY2 C5orf49 LOC105374645
GH05H007850 0.9 ENCODE 8.3 +0.4 358 1.4 FOXA2 ARID4B KLF17 SIN3A BMI1 YY1 ZNF143 EGR2 USF2 REST C5orf49 MTRR ENSG00000250761
GH05H007871 0.6 ENCODE 11.4 -20.4 -20427 1.1 HDAC2 IKZF1 NR2F1 GFI1B PRDM10 KDM1A RUNX3 C5orf49 MTRR FASTKD3 ENSG00000251168
GH05H007815 1 Ensembl ENCODE 5.7 +35.2 35202 1.1 HDGF CTCF RB1 KLF17 ZIC2 ZNF644 RAD21 ZNF138 ZNF366 POLR2A C5orf49 MTRR ENSG00000250761
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C5orf49 on UCSC Golden Path with GeneCards custom track

Promoters for C5orf49 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000177851 790 1001 CTCF MXI1 KLF1 SAP130 ARID4B KLF17 SIN3A BMI1 ZFHX2 ZBTB48

Genomic Locations for C5orf49 Gene

Genomic Locations for C5orf49 Gene
21,113 bases
Minus strand

Genomic View for C5orf49 Gene

Genes around C5orf49 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C5orf49 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C5orf49 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C5orf49 Gene

Proteins for C5orf49 Gene

  • Protein details for C5orf49 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein C5orf49
    Protein Accession:

    Protein attributes for C5orf49 Gene

    147 amino acids
    Molecular mass:
    16991 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C5orf49 Gene

Post-translational modifications for C5orf49 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C5orf49 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C5orf49 Gene

Domains & Families for C5orf49 Gene

Gene Families for C5orf49 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C5orf49 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C5orf49: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C5orf49 Gene

Function for C5orf49 Gene

Phenotypes From GWAS Catalog for C5orf49 Gene

Phenotypes for C5orf49 Gene

genes like me logo Genes that share phenotypes with C5orf49: view

miRNA for C5orf49 Gene

miRTarBase miRNAs that target C5orf49

Clone Products

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 C5orf49 Gene

Localization for C5orf49 Gene

Subcellular locations from

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 C5orf49 gene
Compartment Confidence
nucleus 3
cytosol 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for C5orf49 Gene

Pathways & Interactions for C5orf49 Gene

SuperPathways for C5orf49 Gene

No Data Available

Interacting Proteins for C5orf49 Gene

Gene Ontology (GO) - Biological Process for C5orf49 Gene


No data available for Pathways by source and SIGNOR curated interactions for C5orf49 Gene

Drugs & Compounds for C5orf49 Gene

No Compound Related Data Available

Transcripts for C5orf49 Gene

mRNA/cDNA for C5orf49 Gene

Unigene Clusters for C5orf49 Gene

Chromosome 5 open reading frame 49:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C5orf49 Gene

No ASD Table

Relevant External Links for C5orf49 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C5orf49 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C5orf49 Gene

mRNA differential expression in normal tissues according to GTEx for C5orf49 Gene

This gene is overexpressed in Testis (x8.2) and Brain - Hypothalamus (x4.6).

Protein differential expression in normal tissues from HIPED for C5orf49 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C5orf49 Gene

Protein tissue co-expression partners for C5orf49 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C5orf49 Gene:


SOURCE GeneReport for Unigene cluster for C5orf49 Gene:


Evidence on tissue expression from TISSUES for C5orf49 Gene

  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with C5orf49: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C5orf49 Gene

Orthologs for C5orf49 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C5orf49 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C5H5orf49 33
  • 99.09 (n)
C5orf49 34
  • 99 (a)
(Rattus norvegicus)
Mammalia RGD1308544 33
  • 80.82 (n)
(Mus musculus)
Mammalia 1700001L19Rik 33 16 34
  • 79.63 (n)
(Canis familiaris)
Mammalia C5orf49 34
  • 69 (a)
(Monodelphis domestica)
Mammalia C5orf49 34
  • 60 (a)
(Ornithorhynchus anatinus)
Mammalia C5orf49 34
  • 58 (a)
(Gallus gallus)
Aves LOC100857376 33
  • 65.32 (n)
C5orf49 34
  • 49 (a)
(Anolis carolinensis)
Reptilia C5orf49 34
  • 49 (a)
(Danio rerio)
Actinopterygii si:dkeyp-46h3.1 33
  • 52.34 (n)
C19H5orf49 34
  • 40 (a)
Species where no ortholog for C5orf49 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • 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)
  • 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)

Evolution for C5orf49 Gene

Gene Tree for C5orf49 (if available)
Gene Tree for C5orf49 (if available)

Paralogs for C5orf49 Gene

No data available for Paralogs for C5orf49 Gene

Variants for C5orf49 Gene

Sequence variations from dbSNP and Humsavar for C5orf49 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000327017 -- 7,842,235(+) TTTAT(A/T)TTCTC intron-variant
rs1000476851 -- 7,843,926(+) ATCTC(A/G)ACAAA intron-variant
rs1000480952 -- 7,832,100(+) TCCAT(C/G)AGCCT intron-variant
rs1000533331 -- 7,832,360(+) GATCC(A/T)GGCTC intron-variant
rs1000567447 -- 7,831,467(+) TCCCC(A/G)AAGAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for C5orf49 Gene

Variant ID Type Subtype PubMed ID
nsv597004 CNV gain 21841781
nsv597003 CNV gain 21841781
nsv1073855 CNV deletion 25765185
esv3603937 CNV loss 21293372
esv3420607 CNV insertion 20981092
esv3368102 CNV insertion 20981092
esv3308933 CNV mobile element insertion 20981092
esv3307786 CNV mobile element insertion 20981092
esv26647 CNV loss 19812545
esv2659269 CNV deletion 23128226

Variation tolerance for C5orf49 Gene

Residual Variation Intolerance Score: 89.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.94; 87.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C5orf49 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C5orf49 Gene

Disorders for C5orf49 Gene

Relevant External Links for C5orf49

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for C5orf49 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C5orf49 Gene

Publications for C5orf49 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  2. 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 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 60

Products for C5orf49 Gene

Sources for C5orf49 Gene

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