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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

GeneHancer (GH) Regulatory Elements for C5orf49 Gene

Promoters and enhancers for C5orf49 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
GH05I007850 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 558.3 +0.5 471 1.6 FOXA2 ARID4B KLF17 SIN3A BMI1 YY1 GLIS2 ZNF213 ZNF143 EGR2 C5orf49 PIR49430 MTRR GC05P007853 ENSG00000250761
GH05I007851 Enhancer 0.7 ENCODE 550.8 -0.4 -433 0.2 PKNOX1 FOXA2 MAX SIN3A YY1 GATA3 GATAD2A SMARCE1 ZNF687 RXRA C5orf49 GC05P007853 MTRR PIR49430 FASTKD3
GH05I007852 Enhancer 0.6 ENCODE 550.8 -0.7 -716 0.2 SMARCE1 PKNOX1 ZNF687 SIN3A DPF2 ELF1 YY1 ZNF335 JUND GATA3 C5orf49 GC05P007853 MTRR PIR49430 FASTKD3
GH05I007853 Enhancer 0.5 ENCODE 550.8 +1.4 1407 0.2 ZNF202 CTCF KLF1 GLIS2 SAP130 SIN3A EZH2 C5orf49 MTRR PIR49430 GC05P007853 ENSG00000250761
GH05I007393 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.5 +455.8 455778 3.5 CTCF MAZ SP3 ZNF362 BACH1 SIN3A ZNF398 REST ZNF335 ZFHX2 ADCY2 C5orf49 LOC105374645
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C5orf49 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C5orf49 gene promoter:

Genomic Locations for C5orf49 Gene

Genomic Locations for C5orf49 Gene
chr5:7,830,378-7,851,490
(GRCh38/hg38)
Size:
21,113 bases
Orientation:
Minus strand
chr5:7,830,491-7,851,603
(GRCh37/hg19)

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:
    A4QMS7-CE049_HUMAN
    Recommended name:
    Uncharacterized protein C5orf49
    Protein Accession:
    A4QMS7

    Protein attributes for C5orf49 Gene

    Size:
    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

InterPro:
ProtoNet:

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

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 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

None

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
C5orf49
ECgene alternative splicing isoforms for
C5orf49

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:

C5orf49

SOURCE GeneReport for Unigene cluster for C5orf49 Gene:

Hs.709979

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
chimpanzee
(Pan troglodytes)
Mammalia C5H5orf49 33
  • 99.09 (n)
C5orf49 34
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1308544 33
  • 80.82 (n)
mouse
(Mus musculus)
Mammalia 1700001L19Rik 33 16 34
  • 79.63 (n)
dog
(Canis familiaris)
Mammalia C5orf49 34
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C5orf49 34
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C5orf49 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100857376 33
  • 65.32 (n)
C5orf49 34
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C5orf49 34
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-46h3.1 33
  • 52.34 (n)
C19H5orf49 34
  • 40 (a)
OneToOne
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

ENSEMBL:
Gene Tree for C5orf49 (if available)
TreeFam:
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 Variation AA Info Type
rs1000327017 -- 7,842,235(-) T/A genic_upstream_transcript_variant, intron_variant
rs1000476851 -- 7,843,926(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000480952 -- 7,832,100(-) C/G intron_variant
rs1000533331 -- 7,832,360(-) T/A intron_variant
rs1000567447 -- 7,831,467(-) A/G 3_prime_UTR_variant

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

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

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)

Additional Variant Information for C5orf49 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C5orf49

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

Disorders for C5orf49 Gene

Additional Disease Information for C5orf49

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 44 58
  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 58
  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 58

Products for C5orf49 Gene

Sources for C5orf49 Gene

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