Aliases for C19orf47 Gene
Aliases for C19orf47 Gene
External Ids for C19orf47 Gene
- HGNC: 26723
- Entrez Gene: 126526
- Ensembl: ENSG00000160392
- UniProtKB: Q8N9M1
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
GeneHancer (GH) Regulatory Elements for C19orf47 Gene
Promoters and enhancers for C19orf47 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around C19orf47 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the C19orf47 gene promoter:
-
- AREB6
- Max1
- c-Myc
- CP2
- Pax-5
- CBF(2)
- CBF-A
- CBF-B
- CP1A
Regulatory Element Products
Genomic Locations for C19orf47 Gene
Genomic Locations for C19orf47 Gene
- chr19:40,295,271-40,348,527
- (GRCh38/hg38)
- Size:
- 53,257 bases
- Orientation:
- Minus strand
- chr19:40,825,443-40,854,434
- (GRCh37/hg19)
- Size:
- 28,992 bases
- Orientation:
- Minus strand
Genomic View for C19orf47 Gene
Genes around C19orf47 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.2 by Entrez Gene
- 19q13.2 by HGNC
- 19q13.2 by Ensembl
C19orf47 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q8IZ33
- Q8N0V9
Protein attributes for C19orf47 Gene
- Size:
- 422 amino acids
- Molecular mass:
- 44746 Da
- Quaternary structure:
- No Data Available
Protein Expression for C19orf47 Gene
Post-translational modifications for C19orf47 Gene
Other Protein References for C19orf47 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for C19orf47
- Invitrogen Antibodies for C19orf47 (AFLGC-C19orf47)
- GeneTex C19orf47 Antibody for C19orf47
-
Boster Bio Antibodies for C19orf47
-
Santa Cruz Biotechnology (SCBT) Antibodies for C19orf47
- Sino Biological Antibodies for C19orf47
Protein Products
-
OriGene Purified Proteins for C19orf47
- Search Origene for MassSpec and Protein Over-expression Lysates for C19orf47
- Origene Custom Protein Services for C19orf47
- Search GeneTex for Proteins for C19orf47
Assay Products
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
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for C19orf47 Gene
Animal Model Products
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-
CRISPR Products
-
OriGene CRISPR knockouts for C19orf47
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for C19orf47
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miRNA for C19orf47 Gene
- miRTarBase miRNAs that target C19orf47
-
- hsa-mir-128-3p (MIRT045866)
- hsa-mir-4665-5p (MIRT480391)
- hsa-mir-1275 (MIRT480392)
- hsa-mir-6763-5p (MIRT480393)
- hsa-mir-3150a-3p (MIRT480394)
- hsa-mir-491-5p (MIRT480395)
- hsa-mir-4697-3p (MIRT480396)
- hsa-mir-5010-5p (MIRT480397)
- hsa-mir-4525 (MIRT480398)
- hsa-mir-625-5p (MIRT480399)
- hsa-mir-939-5p (MIRT480400)
- hsa-mir-1343-5p (MIRT480401)
- hsa-mir-3175 (MIRT480402)
- hsa-mir-6780b-5p (MIRT480403)
- hsa-mir-4725-3p (MIRT480404)
- hsa-mir-4271 (MIRT480405)
- hsa-mir-5196-5p (MIRT480406)
- hsa-mir-4747-5p (MIRT480407)
- hsa-mir-3202 (MIRT480408)
- hsa-mir-4745-5p (MIRT480409)
- hsa-mir-4481 (MIRT480410)
- hsa-mir-5008-5p (MIRT480411)
- hsa-mir-7515 (MIRT480412)
- hsa-mir-5693 (MIRT480413)
- hsa-mir-4756-5p (MIRT480414)
- hsa-mir-1321 (MIRT480415)
- hsa-mir-4739 (MIRT480416)
- hsa-mir-887-5p (MIRT559046)
- hsa-mir-6738-3p (MIRT559047)
- hsa-mir-6780a-5p (MIRT559048)
- hsa-mir-6779-5p (MIRT559049)
- hsa-mir-3689c (MIRT559050)
- hsa-mir-3689b-3p (MIRT559051)
- hsa-mir-3689a-3p (MIRT559052)
- hsa-mir-30b-3p (MIRT559053)
- hsa-mir-1273h-5p (MIRT559054)
- hsa-mir-6788-5p (MIRT559055)
- hsa-mir-30c-2-3p (MIRT559056)
- hsa-mir-30c-1-3p (MIRT559057)
- hsa-mir-183-5p (MIRT559058)
- hsa-mir-5001-3p (MIRT559059)
- hsa-mir-4727-5p (MIRT559060)
- hsa-mir-6793-5p (MIRT559061)
- hsa-mir-152-5p (MIRT559062)
- hsa-mir-4650-3p (MIRT559063)
- hsa-mir-23b-5p (MIRT559064)
- hsa-mir-23a-5p (MIRT559065)
- hsa-mir-8085 (MIRT559066)
- hsa-mir-6731-5p (MIRT559067)
- hsa-mir-6878-5p (MIRT559068)
- hsa-mir-4480 (MIRT559069)
- hsa-mir-6817-5p (MIRT559070)
- hsa-mir-4769-3p (MIRT559071)
- hsa-mir-3614-5p (MIRT559072)
- hsa-mir-3922-5p (MIRT559073)
- hsa-mir-6831-5p (MIRT559074)
- hsa-mir-3927-3p (MIRT559075)
- hsa-mir-4717-5p (MIRT559076)
- hsa-mir-4753-5p (MIRT559077)
- hsa-mir-4796-3p (MIRT559078)
- hsa-mir-548t-5p (MIRT559079)
- hsa-mir-548az-5p (MIRT559080)
- hsa-mir-4458 (MIRT559081)
- hsa-let-7i-5p (MIRT559082)
- hsa-let-7g-5p (MIRT559083)
- hsa-let-7f-5p (MIRT559084)
- hsa-let-7a-5p (MIRT559085)
- hsa-mir-4500 (MIRT559086)
- hsa-let-7e-5p (MIRT559087)
- hsa-let-7d-5p (MIRT559088)
- hsa-let-7c-5p (MIRT559089)
- hsa-let-7b-5p (MIRT559090)
- hsa-mir-98-5p (MIRT559091)
- hsa-mir-8070 (MIRT720425)
- hsa-mir-6848-3p (MIRT720426)
- hsa-mir-6843-3p (MIRT720427)
- hsa-mir-3187-3p (MIRT720428)
- hsa-mir-4435 (MIRT720429)
- hsa-mir-588 (MIRT720430)
- hsa-mir-4701-5p (MIRT720431)
- hsa-mir-548s (MIRT720432)
- hsa-mir-640 (MIRT720433)
- hsa-mir-378a-5p (MIRT720434)
- hsa-mir-6131 (MIRT720435)
- hsa-mir-4755-3p (MIRT720436)
- hsa-mir-6759-3p (MIRT720437)
- hsa-mir-3663-5p (MIRT720438)
- hsa-mir-3653-5p (MIRT720439)
- hsa-mir-1303 (MIRT783658)
- hsa-mir-193b-5p (MIRT784047)
- hsa-mir-197-3p (MIRT784066)
- hsa-mir-3149 (MIRT784664)
- hsa-mir-411-5p (MIRT785505)
- hsa-mir-483-5p (MIRT786865)
- hsa-mir-5096 (MIRT787093)
- hsa-mir-6832-5p (MIRT788994)
miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for C19orf47
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-
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Cell Line Products
-
Horizon Cell Lines for C19orf47
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
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 1 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IDA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for C19orf47 Gene
Pathways & Interactions for C19orf47 Gene
No Data Available
Interacting Proteins for C19orf47 Gene
Selected Interacting proteins:
ENSP00000463159
Q8N9M1-CS047_HUMAN
for C19orf47 Gene via
STRING
IID
UniProtKB
GPS-Prot Interaction Network for C19orf47
No data available for Pathways by source and SIGNOR curated interactions for C19orf47 Gene
Transcripts for C19orf47 Gene
mRNA/cDNA for C19orf47 Gene
- (15) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (94) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000582783 3628 bps (uc002oni.6)
- ENST00000577617 550 bps (uc060yqz.1)
- ENST00000392035 2126 bps (uc002onh.5)
- ENST00000582734 1977 bps (uc060yra.1)
- ENST00000584868 583 bps (uc060yrb.1)
Unigene Clusters for C19orf47 Gene
CRISPR Products
-
OriGene CRISPR knockouts for C19orf47
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for C19orf47
- genomics-online: gRNA clones - Search results for 61 available C19orf47 gene related products
- Overview of 61 available C19orf47 gene related products
- Applied Biological Materials CRISPR for C19orf47
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for C19orf47
- GenScript: Design CRISPR guide RNA sequences for C19orf47
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for C19orf47
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C19orf47
- genomics-online: shRNA clones - Search results for 61 available C19orf47 gene related products
- Overview of 61 available C19orf47 gene related products
Clone Products
- Sino Biological Human cDNA Clone for C19orf47
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- Applied Biological Materials Clones for C19orf47
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||
| SP6: | - |
Expression for C19orf47 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
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).
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
NURSA nuclear receptor signaling pathways regulating expression of C19orf47 Gene:
C19orf47SOURCE GeneReport for Unigene cluster for C19orf47 Gene:
Hs.631557Evidence on tissue expression from TISSUES for C19orf47 Gene
- Nervous system(4.2)
- Lung(4.1)
- Muscle(2.1)
Primer Products
-
OriGene qPCR primer pairs for C19orf47
-
OriGene qPCR primer pairs and template standards for C19orf47
- genomics-online: primer clones - Search results for 61 available C19orf47 gene related products
- Overview of 61 available C19orf47 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | C19H19orf47 33 |
|
||
| C19orf47 34 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | C19orf47 34 |
|
OneToOne | |
| C1H19orf47 33 |
|
||||
| cow (Bos Taurus) |
Mammalia | C18H19orf47 33 |
|
||
| C19orf47 34 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | RGD1307554 33 |
|
||
| mouse (Mus musculus) |
Mammalia | 2310022A10Rik 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | C19orf47 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | C19orf47 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | c19orf47 33 |
|
||
| Str.1068 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.6739 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | si:ch211-160d20.3 33 |
|
||
| C18H19orf47 34 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG16812 34 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | F53F8.5 34 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.6676 34 |
|
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)
Paralogs for C19orf47 Gene
(36) SIMAP similar genes for C19orf47 Gene using alignment to 6 proteins:
- CS047_HUMAN
- J3QKY6_HUMAN
- J3QKZ5_HUMAN
- J3QS16_HUMAN
- J3QS80_HUMAN
- J9JIE4_HUMAN
No data available for Paralogs for C19orf47 Gene
Variants for C19orf47 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000052697 | -- | 40,339,888(-) | T/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000059486 | -- | 40,300,780(-) | G/A | genic_downstream_transcript_variant, intron_variant | |
| rs1000172926 | -- | 40,310,101(-) | A/C | genic_downstream_transcript_variant, intron_variant | |
| rs1000193656 | -- | 40,323,457(-) | G/A | intron_variant | |
| rs1000257910 | -- | 40,345,122(-) | A/G | genic_upstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2758761 | CNV | gain | 17122850 |
| esv3644344 | CNV | gain | 21293372 |
| nsv833831 | CNV | loss | 17160897 |
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)
Additional Variant Information for C19orf47 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- C19orf47
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C19orf47 Gene
Disorders for C19orf47 Gene
Additional Disease Information for 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- 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
- 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 58
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
- A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58
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- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for C19orf47
- GeneCopoeia miRNA 3'UTR Target clone products for C19orf47
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C19orf47
- Boster Bio Antibodies for C19orf47
- Browse Boster Bio ELISA Kits
Sources for C19orf47 Gene
- (1) GeneCards
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