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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.

Additional gene information for C19orf47 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 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
GH19H040277 1.7 Ensembl ENCODE dbSUPER 11 +66.0 65950 10 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF780B ENSG00000269843 SNRPA HNRNPUL1 SUPT5H COQ8B AKT2 NUMBL ZNF780A MAP3K10
GH19H040441 1.4 ENCODE dbSUPER 10.9 -95.7 -95722 5 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC SSRP1 ZNF610 HNRNPUL1 SERTAD3 SNRPA ENSG00000269843 CYP2F2P CCDC97 FBL PSMC4 ZNF780B ENSG00000271299
GH19H040190 1.4 FANTOM5 ENCODE 10.1 +157.3 157300 2 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF766 ZNF207 ZNF143 ZNF780B NUMBL CYP2G1P SUPT5H EID2B ENSG00000269843 SNRPA PAF1 TTC9B CNTD2
GH19H040461 1.2 Ensembl ENCODE 11 -113.3 -113278 1 ELF3 FOXA2 MLX ARID4B SIN3A THRB RARA ZNF121 ZNF23 IKZF2 CYP2G1P SERTAD3 SERTAD1 PRX ZNF546 C19orf47 PLD3 ENSG00000206925 EID2 ZNF780B
GH19H040273 1.4 Ensembl ENCODE dbSUPER 8.8 +74.2 74167 2 HDAC1 TBP HDGF ATF1 TBL1XR1 ARNT KLF17 CHAMP1 TCF12 GLIS2 MAP3K10 C19orf47 PLD3 SERTAD3 ENSG00000205041 PIR38327
- 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
ENSR00000109511 27 1801 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC

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

Gene Families for C19orf47 Gene

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

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 Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C19orf47 Gene

Function for C19orf47 Gene

Phenotypes From GWAS Catalog 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

CRISPR Products

miRNA for C19orf47 Gene

miRTarBase miRNAs that target C19orf47

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C19orf47
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Subcellular locations from the

Human Protein Atlas (HPA)

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

Gene Ontology (GO) - Biological Process for C19orf47 Gene

None

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

Drugs & Compounds for C19orf47 Gene

No Compound Related Data Available

Transcripts for C19orf47 Gene

Unigene Clusters for C19orf47 Gene

Chromosome 19 open reading frame 47:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C19orf47
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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

Evidence on tissue expression from TISSUES for C19orf47 Gene

  • Nervous system(4.2)
  • Lung(4.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with C19orf47: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.53 (n)
C19orf47 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C19orf47 34
  • 93 (a)
OneToOne
C1H19orf47 33
  • 91.75 (n)
cow
(Bos Taurus)
Mammalia C18H19orf47 33
  • 87.83 (n)
C19orf47 34
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1307554 33
  • 84.58 (n)
mouse
(Mus musculus)
Mammalia 2310022A10Rik 33 16 34
  • 83.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 71 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia C19orf47 34
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C19orf47 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c19orf47 33
  • 63.31 (n)
Str.1068 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6739 33
zebrafish
(Danio rerio)
Actinopterygii si:ch211-160d20.3 33
  • 61.38 (n)
C18H19orf47 34
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG16812 34
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F53F8.5 34
  • 20 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6676 34
  • 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
rs1000052697 -- 40,339,888(+) GAGAA(C/T)TGCTT intron-variant
rs1000059486 -- 40,300,780(+) TAGAA(A/G)GTCCT intron-variant
rs1000172926 -- 40,310,101(+) AGCCC(A/C)AAAGT intron-variant
rs1000193656 -- 40,323,457(+) ACTGC(A/G)GGCCG intron-variant
rs1000257910 -- 40,345,122(+) CCTTT(A/G)AGTAC intron-variant

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

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

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 (Nature genetics 2004) 3 4 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. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4 60
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for C19orf47 Gene

Sources for C19orf47 Gene

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