Aliases for C12orf73 Gene

Aliases for C12orf73 Gene

  • Chromosome 12 Open Reading Frame 73 2 3 5
  • Uncharacterized Protein C12orf73 3 4
  • BRAWNIN 2 3
  • DKFZp547P055 2
  • C12orf73 5
  • FLJ13975 2
  • BR 3

External Ids for C12orf73 Gene

Previous GeneCards Identifiers for C12orf73 Gene

  • GC12M102870
  • GC12M104343
  • GC12M101403

Summaries for C12orf73 Gene

GeneCards Summary for C12orf73 Gene

C12orf73 (Chromosome 12 Open Reading Frame 73) is a Protein Coding gene. Diseases associated with C12orf73 include Perrault Syndrome.

Additional gene information for C12orf73 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C12orf73 Gene

Genomics for C12orf73 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C12orf73 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 C12orf73 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C12orf73

Top Transcription factor binding sites by QIAGEN in the C12orf73 gene promoter:
  • Evi-1
  • FAC1
  • FOXO1
  • FOXO1a
  • p300
  • Pax-2
  • Pax-2a
  • Pax-5
  • RORalpha1

Genomic Locations for C12orf73 Gene

Genomic Locations for C12orf73 Gene
chr12:103,940,763-103,965,755
(GRCh38/hg38)
Size:
24,993 bases
Orientation:
Minus strand
chr12:104,343,980-104,359,486
(GRCh37/hg19)
Size:
15,507 bases
Orientation:
Minus strand

Genomic View for C12orf73 Gene

Genes around C12orf73 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf73 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf73 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf73 Gene

Proteins for C12orf73 Gene

  • Protein details for C12orf73 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q69YU5-CL073_HUMAN
    Recommended name:
    Uncharacterized protein C12orf73
    Protein Accession:
    Q69YU5

    Protein attributes for C12orf73 Gene

    Size:
    71 amino acids
    Molecular mass:
    8023 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C12orf73 Gene

Post-translational modifications for C12orf73 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C12orf73 Gene

Domains & Families for C12orf73 Gene

Gene Families for C12orf73 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for C12orf73 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C12orf73: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C12orf73 Gene

Function for C12orf73 Gene

Phenotypes From GWAS Catalog for C12orf73 Gene

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf73

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C12orf73 Gene

Localization for C12orf73 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C12orf73 Gene

Secreted.

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 C12orf73 gene
Compartment Confidence
extracellular 4
cytoskeleton 2
mitochondrion 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Mitochondria (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C12orf73 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with C12orf73: view

Pathways & Interactions for C12orf73 Gene

PathCards logo

SuperPathways for C12orf73 Gene

No Data Available

Interacting Proteins for C12orf73 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000367330 Q69YU5-CL073_HUMAN for C12orf73 Gene via STRING IID

Gene Ontology (GO) - Biological Process for C12orf73 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C12orf73 Gene

Drugs & Compounds for C12orf73 Gene

No Compound Related Data Available

Transcripts for C12orf73 Gene

mRNA/cDNA for C12orf73 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf73

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf73 Gene

No ASD Table

Relevant External Links for C12orf73 Gene

GeneLoc Exon Structure for
C12orf73

Expression for C12orf73 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C12orf73 Gene

Protein differential expression in normal tissues from HIPED for C12orf73 Gene

This gene is overexpressed in Heart (36.4) and Frontal cortex (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C12orf73 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C12orf73

SOURCE GeneReport for Unigene cluster for C12orf73 Gene:

Hs.42547

Evidence on tissue expression from TISSUES for C12orf73 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with C12orf73: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C12orf73 Gene

Orthologs for C12orf73 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C12orf73 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C12orf73 31
  • 100 (a)
OneToOne
C12H12orf73 30
  • 99.53 (n)
Dog
(Canis familiaris)
Mammalia C15H12orf73 30
  • 88.06 (n)
C12orf73 31
  • 87 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C5H12orf73 30
  • 85.13 (n)
C12orf73 31
  • 77 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 1190007I07Rik 30 17 31
  • 85.07 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC691921 30
  • 82.59 (n)
Oppossum
(Monodelphis domestica)
Mammalia C12orf73 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C1H12ORF73 30 31
  • 75.62 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C12orf73 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c12orf73 30
  • 68.85 (n)
Zebrafish
(Danio rerio)
Actinopterygii C25H12orf73 31
  • 71 (a)
OneToOne
si:ch211-68a17.7 30
  • 68.78 (n)
Species where no ortholog for C12orf73 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 C12orf73 Gene

ENSEMBL:
Gene Tree for C12orf73 (if available)
TreeFam:
Gene Tree for C12orf73 (if available)

Paralogs for C12orf73 Gene

Pseudogenes.org Pseudogenes for C12orf73 Gene

genes like me logo Genes that share paralogs with C12orf73: view

No data available for Paralogs for C12orf73 Gene

Variants for C12orf73 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C12orf73 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs2293624 - p.Arg45Cys

Additional dbSNP identifiers (rs#s) for C12orf73 Gene

Structural Variations from Database of Genomic Variants (DGV) for C12orf73 Gene

Variant ID Type Subtype PubMed ID
nsv560039 CNV gain 21841781

Variation tolerance for C12orf73 Gene

Gene Damage Index Score: 5.49; 71.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C12orf73 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C12orf73

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf73 Gene

Disorders for C12orf73 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C12orf73 Gene - From: DISEASES

Disorder Aliases PubMed IDs
perrault syndrome
  • gonadal dysgenesis, xx type
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with C12orf73: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C12orf73 Gene

Publications for C12orf73 Gene

  1. Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly. (PMID: 32161263) Zhang S … Ho L (Nature communications 2020) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4

Products for C12orf73 Gene

Sources for C12orf73 Gene