Aliases for C12orf10 Gene

Aliases for C12orf10 Gene

  • Chromosome 12 Open Reading Frame 10 2 3 5
  • UPF0160 Protein MYG1, Mitochondrial 3 4
  • Melanocyte Proliferating Gene 1 2 3
  • Melanocyte Related Gene 2
  • Melanocyte Related 3
  • MSTP024 3
  • MST024 3
  • Gamm1 3
  • MYG1 3
  • MYG 3

External Ids for C12orf10 Gene

Previous GeneCards Identifiers for C12orf10 Gene

  • GC12M054008
  • GC12M053803
  • GC12P053411
  • GC12P051979
  • GC12P053693
  • GC12P050734

Summaries for C12orf10 Gene

GeneCards Summary for C12orf10 Gene

C12orf10 (Chromosome 12 Open Reading Frame 10) is a Protein Coding gene. Diseases associated with C12orf10 include Hypervitaminosis A.

Additional gene information for C12orf10 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 C12orf10 Gene

Genomics for C12orf10 Gene

GeneHancer (GH) Regulatory Elements for C12orf10 Gene

Promoters and enhancers for C12orf10 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 C12orf10 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C12orf10 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun

Genomic Locations for C12orf10 Gene

Genomic Locations for C12orf10 Gene
chr12:53,299,686-53,307,181
(GRCh38/hg38)
Size:
7,496 bases
Orientation:
Plus strand
chr12:53,693,470-53,700,965
(GRCh37/hg19)
Size:
7,496 bases
Orientation:
Plus strand

Genomic View for C12orf10 Gene

Genes around C12orf10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf10 Gene

Proteins for C12orf10 Gene

  • Protein details for C12orf10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HB07-MYG1_HUMAN
    Recommended name:
    UPF0160 protein MYG1, mitochondrial
    Protein Accession:
    Q9HB07

    Protein attributes for C12orf10 Gene

    Size:
    376 amino acids
    Molecular mass:
    42449 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C12orf10 Gene

Post-translational modifications for C12orf10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C12orf10 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for C12orf10

No data available for DME Specific Peptides for C12orf10 Gene

Domains & Families for C12orf10 Gene

Gene Families for C12orf10 Gene

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

Protein Domains for C12orf10 Gene

Suggested Antigen Peptide Sequences for C12orf10 Gene

GenScript: Design optimal peptide antigens:
  • UPF0160 protein MYG1, mitochondrial (MYG1_HUMAN)
  • Chromosome 12 open reading frame 10, isoform CRA_b (Q86UA3_HUMAN)
  • MSTP024 (Q8WYI2_HUMAN)
  • C12orf10 protein (Q96CT6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HB07

UniProtKB/Swiss-Prot:

MYG1_HUMAN :
  • Belongs to the UPF0160 (MYG1) family.
Family:
  • Belongs to the UPF0160 (MYG1) family.
genes like me logo Genes that share domains with C12orf10: view

Function for C12orf10 Gene

Phenotypes From GWAS Catalog for C12orf10 Gene

Gene Ontology (GO) - Molecular Function for C12orf10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with C12orf10: view
genes like me logo Genes that share phenotypes with C12orf10: view

Animal Models for C12orf10 Gene

MGI Knock Outs for C12orf10:
  • Myg1 Myg1<tm1Mphi>

Animal Model Products

CRISPR Products

miRNA for C12orf10 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf10

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C12orf10 Gene

Localization for C12orf10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C12orf10 Gene

Nucleus. Mitochondrion.

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 C12orf10 gene
Compartment Confidence
mitochondrion 5
nucleus 5
extracellular 1
peroxisome 1
cytosol 1
endoplasmic reticulum 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C12orf10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19014353
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA 19014353
genes like me logo Genes that share ontologies with C12orf10: view

Pathways & Interactions for C12orf10 Gene

PathCards logo

SuperPathways for C12orf10 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C12orf10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035641 locomotory exploration behavior IEA --
genes like me logo Genes that share ontologies with C12orf10: view

No data available for Pathways by source and SIGNOR curated interactions for C12orf10 Gene

Drugs & Compounds for C12orf10 Gene

No Compound Related Data Available

Transcripts for C12orf10 Gene

mRNA/cDNA for C12orf10 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf10

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf10 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b
SP1: - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - -
SP5: -
SP6: -
SP7: - - - - - -
SP8:

Relevant External Links for C12orf10 Gene

GeneLoc Exon Structure for
C12orf10
ECgene alternative splicing isoforms for
C12orf10

Expression for C12orf10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C12orf10 Gene

Protein differential expression in normal tissues from HIPED for C12orf10 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C12orf10 Gene



Protein tissue co-expression partners for C12orf10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C12orf10 Gene:

C12orf10

SOURCE GeneReport for Unigene cluster for C12orf10 Gene:

Hs.655988

mRNA Expression by UniProt/SwissProt for C12orf10 Gene:

Q9HB07-MYG1_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels in testis.

Evidence on tissue expression from TISSUES for C12orf10 Gene

  • Nervous system(3.7)
  • Blood(2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with C12orf10: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for C12orf10 Gene

Orthologs for C12orf10 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for C12orf10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C12H12orf10 32
  • 99.38 (n)
C12orf10 33
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C27H12orf10 32
  • 88.99 (n)
C12orf10 33
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C5H12orf10 33 32
  • 86.99 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myg1 32
  • 86.94 (n)
mouse
(Mus musculus)
Mammalia Myg1 17 33 32
  • 85.51 (n)
chicken
(Gallus gallus)
Aves C12ORF10 32
  • 66.89 (n)
lizard
(Anolis carolinensis)
Reptilia C12orf10 33
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c12orf10 32
  • 63.73 (n)
Str.20255 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.24401 32
zebrafish
(Danio rerio)
Actinopterygii zgc:136866 32
  • 60.62 (n)
C11H12orf10 33
  • 53 (a)
OneToOne
wufa14e09 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4414 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002408 32
  • 53.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11980 33 34 32
  • 51.78 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C27H6.8 33 32
  • 53.06 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR145C 32
  • 54.54 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YER156C 32
  • 52.15 (n)
-- 33
  • 43 (a)
OneToOne
-- 35
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C11671g 32
  • 48.46 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G41970 32
  • 54.71 (n)
rice
(Oryza sativa)
Liliopsida Os02g0686600 32
  • 54.88 (n)
Os.47398 32
wheat
(Triticum aestivum)
Liliopsida Ta.7612 32
bread mold
(Neurospora crassa)
Ascomycetes NCU03859 32
  • 57.64 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC694.04c 32
  • 51.53 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2613 33
  • 49 (a)
OneToMany
-- 33
  • 47 (a)
OneToMany
Cin.4262 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4262 32
Species where no ortholog for C12orf10 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for C12orf10 Gene

ENSEMBL:
Gene Tree for C12orf10 (if available)
TreeFam:
Gene Tree for C12orf10 (if available)

Paralogs for C12orf10 Gene

(1) SIMAP similar genes for C12orf10 Gene using alignment to 6 proteins:

  • MYG1_HUMAN
  • F8VQQ3_HUMAN
  • F8VR84_HUMAN
  • H3BPH3_HUMAN
  • Q86UA3_HUMAN
  • Q96CT6_HUMAN

Pseudogenes.org Pseudogenes for C12orf10 Gene

genes like me logo Genes that share paralogs with C12orf10: view

No data available for Paralogs for C12orf10 Gene

Variants for C12orf10 Gene

Sequence variations from dbSNP and Humsavar for C12orf10 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs112987708 likely-benign, Glucocorticoid deficiency with achalasia 53,307,573(+) A/G downstream_transcript_variant
rs138994144 likely-benign, Glucocorticoid deficiency with achalasia 53,307,457(+) G/A downstream_transcript_variant
rs34451260 likely-benign, Glucocorticoid deficiency with achalasia 53,307,533(+) C/T downstream_transcript_variant
rs35282133 likely-benign, Glucocorticoid deficiency with achalasia 53,307,615(+) A/G downstream_transcript_variant
rs886049647 uncertain-significance, Glucocorticoid deficiency with achalasia 53,307,539(+) G/A downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C12orf10 Gene

Variant ID Type Subtype PubMed ID
nsv517066 CNV loss 19592680

Variation tolerance for C12orf10 Gene

Residual Variation Intolerance Score: 73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.80; 33.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C12orf10 Gene

Human Gene Mutation Database (HGMD)
C12orf10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C12orf10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf10 Gene

Disorders for C12orf10 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C12orf10 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
hypervitaminosis a
  • hypervitaminosis a, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C12orf10

genes like me logo Genes that share disorders with C12orf10: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C12orf10 Gene

Publications for C12orf10 Gene

  1. Characterization of MYG1 gene and protein: subcellular distribution and function. (PMID: 19014353) Philips MA … Nielsen FC (Biology of the cell 2009) 3 4 23 56
  2. Promoter polymorphism -119C/G in MYG1 (C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entrance of Myg1. (PMID: 20377893) Philips MA … Kõks S (BMC medical genetics 2010) 3 23 56
  3. MYG1, novel melanocyte related gene, has elevated expression in vitiligo. (PMID: 16996721) Kingo K … Kõks S (Journal of dermatological science 2006) 2 3 56
  4. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3 56
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 56

Products for C12orf10 Gene

Sources for C12orf10 Gene