Aliases for C12orf56 Gene
External Ids for C12orf56 Gene
- HGNC: 26967
- Entrez Gene: 115749
- Ensembl: ENSG00000185306
- UniProtKB: Q8IXR9
Previous GeneCards Identifiers for C12orf56 Gene
- GC12M062948
- GC12M064661
- GC12M061713
Summaries for C12orf56 Gene
GeneCards Summary for C12orf56 Gene
C12orf56 (Chromosome 12 Open Reading Frame 56) is a Protein Coding 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 C12orf56 Gene
Genomics for C12orf56 Gene
Regulatory Elements for C12orf56 Gene
Enhancers for C12orf56 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 |
|---|---|---|---|---|---|---|---|---|
| GH12G064318 | 0.9 | Ensembl ENCODE | 21.7 | +72.5 | 72481 | 0.8 | CTCF HLF JUNB EBF1 RAD21 RELA IKZF1 SMC3 TCF7 RELB | C12orf56 ATP6V1E1P3 ENSG00000256192 |
| GH12G064218 | 1.4 | Ensembl ENCODE | 6.2 | +170.6 | 170595 | 4.9 | HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 | C12orf56 RPS11P6 RNU6-1009P |
| GH12G064403 | 1.2 | ENCODE | 5.5 | -13.6 | -13593 | 3.0 | CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 ZFP41 ZNF610 | TBK1 LEMD3 SRGAP1 ENSG00000250280 C12orf56 XPOT LOC100420899 |
| GH12G064252 | 0.8 | Ensembl ENCODE | 5.7 | +138.3 | 138282 | 1.0 | ZSCAN4 ZNF133 CEBPB CEBPG | RPS11P6 RNU6-1009P XPOT ENSG00000255629 C12orf56 ENSG00000256192 C12orf66 |
| GH12G064323 | 0.2 | ENCODE | 22.7 | +67.0 | 66967 | 0.7 | C12orf56 ATP6V1E1P3 ENSG00000256192 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around C12orf56 on UCSC Golden Path with GeneCards custom track
Promoters for C12orf56 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|---|---|---|
| ENSR00000053166 | 492 | 601 | CTCF POLR2A MGA |
Regulatory Element Products
Genomic Location for C12orf56 Gene
- Chromosome:
- 12
- Start:
- 64,264,762 bp from pter
- End:
- 64,391,192 bp from pter
- Size:
- 126,431 bases
- Orientation:
- Minus strand
Genomic View for C12orf56 Gene
Genes around C12orf56 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q14.2 by Ensembl
- 12q14.2 by Entrez Gene
- 12q14.2 by HGNC
C12orf56 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 C12orf56 Gene
Proteins for C12orf56 Gene
-
Protein details for C12orf56 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IXR9-CL056_HUMAN
- Recommended name:
- Uncharacterized protein C12orf56
- Protein Accession:
- Q8IXR9
Protein attributes for C12orf56 Gene
- Size:
- 622 amino acids
- Molecular mass:
- 71046 Da
- Quaternary structure:
- No Data Available
Protein Expression for C12orf56 Gene
Post-translational modifications for C12orf56 Gene
Other Protein References for C12orf56 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for C12orf56
-
Abcam antibodies for C12orf56
- Invitrogen Antibodies for C12orf56
- Search GeneTex for Antibodies for C12orf56
Protein Products
-
OriGene Purified Proteins for C12orf56
- Search Origene for MassSpec and Protein Over-expression Lysates for C12orf56
- Origene Custom Protein Services for C12orf56
- Novus Biologicals proteins for C12orf56
- Search GeneTex for Proteins for C12orf56
Assay Products
No data available for DME Specific Peptides for C12orf56 Gene
Domains & Families for C12orf56 Gene
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C12orf56 Gene
Function for C12orf56 Gene
Phenotypes for C12orf56 Gene
- GenomeRNAi human phenotypes for C12orf56:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for C12orf56
-
-
ViGene Biosciences lentiviral particle packaged cDNA for C12orf56 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for C12orf56 gene
- Search ViGene Biosciences for C12orf56
CRISPR Products
-
OriGene CRISPR knockouts for C12orf56
-
Santa Cruz Biotechnology (SCBT) CRISPR for C12orf56
- GenScript: Design CRISPR guide RNA sequences for C12orf56
miRNA for C12orf56 Gene
- miRTarBase miRNAs that target C12orf56
miRNA Products
- Search ViGene Biosciences for C12orf56
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for C12orf56
- Browse OriGene Inhibitory RNA Products For C12orf56
-
ViGene Biosciences ready-to-package AAV shRNAs for C12orf56 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for C12orf56
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for C12orf56
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for C12orf56
-
ViGene Biosciences adenoviral particle packaged cDNA for C12orf56 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for C12orf56 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for C12orf56 gene
Flow Cytometry 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 C12orf56 Gene
Localization for C12orf56 Gene
| Compartment | Confidence |
|---|---|
| mitochondrion | 2 |
| cytosol | 2 |
| peroxisome | 1 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C12orf56 Gene
Pathways & Interactions for C12orf56 Gene
No Data Available
Interacting Proteins for C12orf56 Gene
No data available for Pathways by source and SIGNOR curated interactions for C12orf56 Gene
Transcripts for C12orf56 Gene
mRNA/cDNA for C12orf56 Gene
- (3) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (21) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for C12orf56 Gene
- Chromosome 12 open reading frame 56:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for C12orf56
-
Santa Cruz Biotechnology (SCBT) CRISPR for C12orf56
- GenScript: Design CRISPR guide RNA sequences for C12orf56
miRNA Products
- Search ViGene Biosciences for C12orf56
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for C12orf56
- Browse OriGene Inhibitory RNA Products For C12orf56
-
ViGene Biosciences ready-to-package AAV shRNAs for C12orf56 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for C12orf56
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for C12orf56
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for C12orf56 Gene
mRNA differential expression in normal tissues according to GTEx for C12orf56 Gene
This gene is overexpressed in Testis (x14.0), Nerve - Tibial (x6.1), Vagina (x5.8), and Esophagus - Mucosa (x5.8).
This gene is overexpressed in Pancreatic juice (63.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for C12orf56 Gene
NURSA nuclear receptor signaling pathways regulating expression of C12orf56 Gene:
C12orf56SOURCE GeneReport for Unigene cluster for C12orf56 Gene:
Hs.535190Primer Products
-
OriGene qPCR primer pairs for C12orf56
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C12orf56 Gene
Orthologs for C12orf56 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | C12H12orf56 34 |
|
||
| C12orf56 35 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | C5H12orf56 34 |
|
||
| C12orf56 35 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | C10H12orf56 34 |
|
||
| C12orf56 35 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | D930020B18Rik 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | RGD1561648 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | si:ch211-258f14.2 34 |
|
||
| C4H12orf56 35 |
|
OneToOne |
- Species where no ortholog for C12orf56 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)
- 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)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- 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)
Paralogs for C12orf56 Gene
No data available for Paralogs for C12orf56 Gene
Variants for C12orf56 Gene
| SNP ID | Clin | Chr 12 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000012059 | -- | 64,378,779(+) | GGCAT(A/G)GTGGC | intron-variant | |
| rs1000016324 | -- | 64,391,957(+) | AGCAA(C/T)TTCAA | upstream-variant-2KB | |
| rs1000019138 | -- | 64,279,603(+) | TAGAA(G/T)CATTT | intron-variant | |
| rs1000029027 | -- | 64,381,981(+) | ACTCA(G/T)CAGGG | intron-variant | |
| rs1000071283 | -- | 64,279,967(+) | CAAAG(C/G)AAAGA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1457683 | CNV | deletion | 17803354 |
| esv2745987 | CNV | deletion | 23290073 |
| esv3580293 | CNV | loss | 25503493 |
| esv3629770 | CNV | loss | 21293372 |
| esv3629771 | CNV | loss | 21293372 |
| esv3629772 | CNV | loss | 21293372 |
| nsv1113489 | CNV | deletion | 24896259 |
| nsv1128667 | CNV | duplication | 24896259 |
| nsv1148950 | CNV | duplication | 26484159 |
| nsv469456 | CNV | loss | 19166990 |
| nsv517246 | CNV | loss | 19592680 |
| nsv559202 | CNV | loss | 21841781 |
| nsv958682 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
80.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
14.35;
96.33% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for C12orf56 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- C12orf56
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf56 Gene
Disorders for C12orf56 Gene
Relevant External Links for C12orf56
No disorders were found for C12orf56 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C12orf56 Gene
Publications for C12orf56 Gene
- Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. (PMID: 24324551) Deng X. … Seielstad M. (PLoS ONE 2013) 3 64
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 64
- A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. (PMID: 19490893) Luo J. … Elledge S.J. (Cell 2009) 3 64
- The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer S.E. … Gibbs R.A. (Nature 2006) 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
Products for C12orf56 Gene
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- Browse Proteins and Enzymes
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- OriGene Purified Proteins for C12orf56
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- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for C12orf56
- Browse OriGene Inhibitory RNA Products For C12orf56
- OriGene qPCR primer pairs for C12orf56
- OriGene CRISPR knockouts for C12orf56
- OriGene ORF clones in human for C12orf56
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- Novus Biologicals Antibodies for C12orf56
- Novus Biologicals proteins for C12orf56
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Invitrogen Antibodies for C12orf56
- ViGene Biosciences adenoviral particle packaged cDNA for C12orf56 gene
- ViGene Biosciences lentiviral particle packaged cDNA for C12orf56 gene
- ViGene Biosciences ready-to-package AAV shRNAs for C12orf56 gene
- Search ViGene Biosciences for C12orf56
- Horizon Cell Lines for C12orf56
- Cyagen custom Knockout/knockin (KOKI) mouse models for C12orf56
- VectorBuilder custom plasmid, inducible vectors for C12orf56
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for C12orf56
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for C12orf56 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
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- (122) diseasecard
- (123) NIH Rare Diseases
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- (125) UMLS
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- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer