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Aliases for C12orf45 Gene

Aliases for C12orf45 Gene

  • Chromosome 12 Open Reading Frame 45 2 3 5
  • Uncharacterized Protein C12orf45 3

External Ids for C12orf45 Gene

Previous GeneCards Identifiers for C12orf45 Gene

  • GC12P103883
  • GC12P105380
  • GC12P102439

Summaries for C12orf45 Gene

GeneCards Summary for C12orf45 Gene

C12orf45 (Chromosome 12 Open Reading Frame 45) is a Protein Coding gene.

Additional gene information for C12orf45 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 C12orf45 Gene

Genomics for C12orf45 Gene

GeneHancer (GH) Regulatory Elements for C12orf45 Gene

Promoters and enhancers for C12orf45 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
GH12J104985 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 661.4 +0.5 451 2.3 HDGF PKNOX1 CLOCK ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 C12orf45 LOC105369952 SLC41A2 NFYB ALDH1L2 RPL18AP3 PIR60982 GC12M104965
GH12J104986 Enhancer 0.5 ENCODE 650.7 -0.8 -792 0.2 CTCF ZNF146 SAP130 CUX1 ZNF644 RAD21 LOC105369952 C12orf45 KRT18P20 GC12M104965
GH12J104957 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 19.4 -27.4 -27437 3.3 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF766 FOS KLF13 SLC41A2 C12orf45 KRT18P20
GH12J104944 Enhancer 0.8 ENCODE 17.7 -41.7 -41699 0.9 FOXA2 MAX RAD21 YY1 ZNF121 EGR1 ZNF366 HNF4G KLF8 RXRA C12orf45 GC12M104943 SLC41A2 GC12M104883
GH12J105024 Enhancer 0.6 ENCODE 19.8 +39.1 39086 2.5 FOXA2 RXRA REST RAD21 YY1 NR2F2 SP1 JUND PRDM6 ZSCAN5C C12orf45 SLC41A2 PIR40149 PIR45033 ALDH1L2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C12orf45 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C12orf45 gene promoter:
  • Lmo2
  • FOXD1
  • SRF (504 AA)
  • SRF
  • ATF6
  • MIF-1
  • Sox9
  • En-1
  • SEF-1 (1)

Genomic Locations for C12orf45 Gene

Genomic Locations for C12orf45 Gene
chr12:104,986,310-105,074,197
(GRCh38/hg38)
Size:
87,888 bases
Orientation:
Plus strand
chr12:105,380,088-105,443,515
(GRCh37/hg19)
Size:
63,428 bases
Orientation:
Plus strand

Genomic View for C12orf45 Gene

Genes around C12orf45 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf45 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf45 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf45 Gene

Proteins for C12orf45 Gene

  • Protein details for C12orf45 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5I9-CL045_HUMAN
    Recommended name:
    Uncharacterized protein C12orf45
    Protein Accession:
    Q8N5I9

    Protein attributes for C12orf45 Gene

    Size:
    185 amino acids
    Molecular mass:
    20123 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH32326.1; Type=Frameshift; Positions=185; Evidence={ECO:0000305};

neXtProt entry for C12orf45 Gene

Post-translational modifications for C12orf45 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C12orf45 Gene

No data available for DME Specific Peptides for C12orf45 Gene

Domains & Families for C12orf45 Gene

Gene Families for C12orf45 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C12orf45 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C12orf45: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C12orf45 Gene

Function for C12orf45 Gene

genes like me logo Genes that share phenotypes with C12orf45: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf45

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C12orf45 Gene

Localization for C12orf45 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 C12orf45 gene
Compartment Confidence
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C12orf45 Gene

Pathways & Interactions for C12orf45 Gene

SuperPathways for C12orf45 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C12orf45 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C12orf45 Gene

Drugs & Compounds for C12orf45 Gene

No Compound Related Data Available

Transcripts for C12orf45 Gene

mRNA/cDNA for C12orf45 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(75) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C12orf45 Gene

Chromosome 12 open reading frame 45:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf45

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf45 Gene

No ASD Table

Relevant External Links for C12orf45 Gene

GeneLoc Exon Structure for
C12orf45
ECgene alternative splicing isoforms for
C12orf45

Expression for C12orf45 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C12orf45 Gene

Protein differential expression in normal tissues from HIPED for C12orf45 Gene

This gene is overexpressed in Lung (40.1) and Peripheral blood mononuclear cells (21.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C12orf45 Gene



Protein tissue co-expression partners for C12orf45 Gene

NURSA nuclear receptor signaling pathways regulating expression of C12orf45 Gene:

C12orf45

SOURCE GeneReport for Unigene cluster for C12orf45 Gene:

Hs.295563
genes like me logo Genes that share expression patterns with C12orf45: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C12orf45 Gene

Orthologs for C12orf45 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C12orf45 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C12H12orf45 33
  • 99.82 (n)
C12orf45 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C10H12orf45 33
  • 87.36 (n)
C12orf45 34
  • 77 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C5H12orf45 34 33
  • 76.58 (n)
OneToOne
mouse
(Mus musculus)
Mammalia D10Wsu102e 16 34 33
  • 71.92 (n)
rat
(Rattus norvegicus)
Mammalia RGD1563365 33
  • 69.58 (n)
oppossum
(Monodelphis domestica)
Mammalia C12orf45 34
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C12orf45 34
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100857517 33
  • 63.29 (n)
C12orf45 34
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C12orf45 34
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c12orf45 33
  • 54.83 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-48p11.3 33
  • 50.84 (n)
C4H12orf45 34
  • 48 (a)
OneToOne
Species where no ortholog for C12orf45 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C12orf45 Gene

ENSEMBL:
Gene Tree for C12orf45 (if available)
TreeFam:
Gene Tree for C12orf45 (if available)

Paralogs for C12orf45 Gene

Pseudogenes.org Pseudogenes for C12orf45 Gene

genes like me logo Genes that share paralogs with C12orf45: view

No data available for Paralogs for C12orf45 Gene

Variants for C12orf45 Gene

Sequence variations from dbSNP and Humsavar for C12orf45 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000137193 -- 104,984,950(+) A/G upstream_transcript_variant
rs1000268560 -- 104,989,869(+) A/G intron_variant
rs1000304082 -- 104,988,471(+) G/A intron_variant
rs1000358780 -- 104,994,405(+) T/C intron_variant
rs1002241124 -- 104,990,093(+) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C12orf45 Gene

Variant ID Type Subtype PubMed ID
nsv832505 CNV gain 17160897
nsv869 CNV deletion 18451855

Variation tolerance for C12orf45 Gene

Residual Variation Intolerance Score: 71.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.36; 76.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C12orf45 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C12orf45

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf45 Gene

Disorders for C12orf45 Gene

Additional Disease Information for C12orf45

No disorders were found for C12orf45 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C12orf45 Gene

Publications for C12orf45 Gene

  1. Assembly and trafficking of box C/D and H/ACA snoRNPs. (PMID: 27715451) Massenet S … Verheggen C (RNA biology 2017) 2 3 58
  2. Proteomic and 3D structure analyses highlight the C/D box snoRNP assembly mechanism and its control. (PMID: 25404746) Bizarro J … Bertrand E (The Journal of cell biology 2014) 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) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein. (PMID: 28561026) Cloutier P … Coulombe B (Nature communications 2017) 3 58

Products for C12orf45 Gene

Sources for C12orf45 Gene

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