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Aliases for C19orf47 Gene

Aliases for C19orf47 Gene

  • Chromosome 19 Open Reading Frame 47 2 3 5

External Ids for C19orf47 Gene

Previous GeneCards Identifiers for C19orf47 Gene

  • GC19M045517
  • GC19M040826
  • GC19M037262
  • GC19M040319

Summaries for C19orf47 Gene

GeneCards Summary for C19orf47 Gene

C19orf47 (Chromosome 19 Open Reading Frame 47) 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 C19orf47 Gene

Genomics for C19orf47 Gene

Regulatory Elements for C19orf47 Gene

Enhancers for C19orf47 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
GH19F040277 1.4 Ensembl ENCODE 11 +66.0 65950 10.4 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF302 ENSG00000269069 MAP3K10 ENSG00000205041 PRX RPS16 ZNF546 NUMBL SUPT5H C19orf47 ENSG00000269843
GH19F040190 1.4 FANTOM5 ENCODE 10.1 +157.3 157300 2.3 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF207 ZNF143 KLF13 TTC9B CNTD2 RPS16 ZNF546 ENSG00000269069 HIPK4 EID2B PLD3 C19orf47 ENSG00000206925
GH19F040229 0.8 Ensembl ENCODE 16.6 +118.9 118850 0.2 ZFP69B ZBTB48 ZNF138 POLR2A NCOR1 PRDM10 PRDM1 C19orf47 ENSG00000206925 PLD3 HIPK4 CNTD2 PIR38327
GH19F040441 1.2 ENCODE 10.9 -95.7 -95722 5.4 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 SERTAD3 ENSG00000205041 ENSG00000269069 EID2B CYP2G2P ENSG00000271299 ENSG00000269188 LGALS14 LOC105372399 ENSG00000269792
GH19F040347 1.2 ENCODE 10.1 -0.1 -58 2.2 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SNRPA ENSG00000269843 FBL ENSG00000205041 ENSG00000269069 CCDC97 RN7SL566P COQ8B ITPKC RPS16
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C19orf47 on UCSC Golden Path with GeneCards custom track

Promoters for C19orf47 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000346584 27 2600 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for C19orf47 Gene

Chromosome:
19
Start:
40,295,271 bp from pter
End:
40,348,527 bp from pter
Size:
53,257 bases
Orientation:
Minus strand

Genomic View for C19orf47 Gene

Genes around C19orf47 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C19orf47 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C19orf47 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C19orf47 Gene

Proteins for C19orf47 Gene

  • Protein details for C19orf47 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9M1-CS047_HUMAN
    Recommended name:
    Uncharacterized protein C19orf47
    Protein Accession:
    Q8N9M1
    Secondary Accessions:
    • Q8IZ33
    • Q8N0V9

    Protein attributes for C19orf47 Gene

    Size:
    422 amino acids
    Molecular mass:
    44746 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C19orf47 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C19orf47 Gene

Post-translational modifications for C19orf47 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C19orf47 Gene

Domains & Families for C19orf47 Gene

Protein Domains for C19orf47 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C19orf47: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C19orf47 Gene

Function for C19orf47 Gene

Gene Ontology (GO) - Molecular Function for C19orf47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C19orf47: view
genes like me logo Genes that share phenotypes with C19orf47: view

Animal Model Products

miRNA for C19orf47 Gene

miRTarBase miRNAs that target C19orf47

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C19orf47 Gene

Localization for C19orf47 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 C19orf47 gene
Compartment Confidence
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for C19orf47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with C19orf47: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C19orf47 Gene

Pathways & Interactions for C19orf47 Gene

SuperPathways for C19orf47 Gene

No Data Available

Interacting Proteins for C19orf47 Gene

Gene Ontology (GO) - Biological Process for C19orf47 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C19orf47 Gene

Transcripts for C19orf47 Gene

Unigene Clusters for C19orf47 Gene

Chromosome 19 open reading frame 47:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C19orf47 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b
SP1: - - - -
SP2: - -
SP3: -
SP4: - -
SP5: -
SP6: -

Relevant External Links for C19orf47 Gene

GeneLoc Exon Structure for
C19orf47
ECgene alternative splicing isoforms for
C19orf47

Expression for C19orf47 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C19orf47 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C19orf47 Gene

This gene is overexpressed in Muscle - Skeletal (x8.8) and Heart - Left Ventricle (x5.1).

Protein differential expression in normal tissues from HIPED for C19orf47 Gene

This gene is overexpressed in Plasma (27.5), Testis (16.3), and Heart (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C19orf47 Gene



Protein tissue co-expression partners for C19orf47 Gene

NURSA nuclear receptor signaling pathways regulating expression of C19orf47 Gene:

C19orf47

SOURCE GeneReport for Unigene cluster for C19orf47 Gene:

Hs.631557
genes like me logo Genes that share expression patterns with C19orf47: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for C19orf47 Gene

Orthologs for C19orf47 Gene

This gene was present in the common ancestor of animals.

Orthologs for C19orf47 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C19H19orf47 34
  • 99.53 (n)
C19orf47 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C19orf47 35
  • 93 (a)
OneToOne
C1H19orf47 34
  • 91.75 (n)
cow
(Bos Taurus)
Mammalia C18H19orf47 34
  • 87.83 (n)
C19orf47 35
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1307554 34
  • 84.58 (n)
mouse
(Mus musculus)
Mammalia 2310022A10Rik 34 16 35
  • 83.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 71 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia C19orf47 35
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C19orf47 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c19orf47 34
  • 63.31 (n)
Str.1068 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.6739 34
zebrafish
(Danio rerio)
Actinopterygii si:ch211-160d20.3 34
  • 61.38 (n)
C18H19orf47 35
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG16812 35
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F53F8.5 35
  • 20 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6676 35
  • 25 (a)
OneToOne
Species where no ortholog for C19orf47 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for C19orf47 Gene

ENSEMBL:
Gene Tree for C19orf47 (if available)
TreeFam:
Gene Tree for C19orf47 (if available)

Paralogs for C19orf47 Gene

No data available for Paralogs for C19orf47 Gene

Variants for C19orf47 Gene

Sequence variations from dbSNP and Humsavar for C19orf47 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10405485 -- 40,319,042(+) tgagg(C/T)gggcg intron-variant, downstream-variant-500B, utr-variant-3-prime
rs10407435 -- 40,298,314(+) aaaaa(A/G)aaaaa intron-variant
rs10408356 -- 40,298,652(+) GGTTT(C/T)GCTGT intron-variant
rs10414431 -- 40,348,424(+) CCGGA(A/T)GCATC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs10415181 -- 40,299,190(+) agaga(A/G)ctaat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C19orf47 Gene

Variant ID Type Subtype PubMed ID
nsv833831 CNV loss 17160897
esv3644344 CNV gain 21293372
esv2758761 CNV gain 17122850

Variation tolerance for C19orf47 Gene

Residual Variation Intolerance Score: 18.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C19orf47 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C19orf47

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C19orf47 Gene

Disorders for C19orf47 Gene

Relevant External Links for C19orf47

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C19orf47

No disorders were found for C19orf47 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C19orf47 Gene

Publications for C19orf47 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. 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 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. Identifying biological pathways that underlie primordial short stature using network analysis. (PMID: 24711643) Hanson D. … Clayton P.E. (J. Mol. Endocrinol. 2014) 3 64

Products for C19orf47 Gene

Sources for C19orf47 Gene

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