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Aliases for C10orf11 Gene

Aliases for C10orf11 Gene

  • Chromosome 10 Open Reading Frame 11 2 3
  • Oculocutaneous Albinism 7 2
  • Autosomal Recessive 2
  • CDA017 3

External Ids for C10orf11 Gene

Previous GeneCards Identifiers for C10orf11 Gene

  • GC10P076887
  • GC10P077212
  • GC10P071541
  • GC10P077192
  • GC10P077360

Summaries for C10orf11 Gene

Entrez Gene Summary for C10orf11 Gene

  • This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

GeneCards Summary for C10orf11 Gene

C10orf11 (Chromosome 10 Open Reading Frame 11) is a Protein Coding gene. Diseases associated with C10orf11 include albinism, oculocutaneous, type vii and osteogenesis imperfecta, type xiv.

UniProtKB/Swiss-Prot for C10orf11 Gene

  • Required for melanocyte differentiation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C10orf11 Gene

Genomics for C10orf11 Gene

Regulatory Elements for C10orf11 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for C10orf11 Gene

Chromosome:
10
Start:
75,431,453 bp from pter
End:
76,560,167 bp from pter
Size:
1,128,715 bases
Orientation:
Plus strand

Genomic View for C10orf11 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C10orf11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C10orf11 Gene

Proteins for C10orf11 Gene

  • Protein details for C10orf11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2I8-CJ011_HUMAN
    Recommended name:
    Leucine-rich repeat-containing protein C10orf11
    Protein Accession:
    Q9H2I8
    Secondary Accessions:
    • B1AVW6

    Protein attributes for C10orf11 Gene

    Size:
    198 amino acids
    Molecular mass:
    22568 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C10orf11 Gene

Proteomics data for C10orf11 Gene at MOPED

Post-translational modifications for C10orf11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C10orf11 Gene

No data available for DME Specific Peptides for C10orf11 Gene

Domains & Families for C10orf11 Gene

Protein Domains for C10orf11 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C10orf11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H2I8

UniProtKB/Swiss-Prot:

CJ011_HUMAN :
  • Contains 1 LRRCT domain.
  • Contains 4 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 LRRCT domain.
Similarity:
  • Contains 4 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with C10orf11: view

No data available for Gene Families for C10orf11 Gene

Function for C10orf11 Gene

Molecular function for C10orf11 Gene

UniProtKB/Swiss-Prot Function:
Required for melanocyte differentiation.

Gene Ontology (GO) - Molecular Function for C10orf11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with C10orf11: view

Phenotypes for C10orf11 Gene

GenomeRNAi human phenotypes for C10orf11:
genes like me logo Genes that share phenotypes with C10orf11: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C10orf11

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C10orf11 Gene

Localization for C10orf11 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C10orf11 Gene COMPARTMENTS Subcellular localization image for C10orf11 gene
Compartment Confidence
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C10orf11 Gene

Pathways & Interactions for C10orf11 Gene

SuperPathways for C10orf11 Gene

No Data Available

Interacting Proteins for C10orf11 Gene

Gene Ontology (GO) - Biological Process for C10orf11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030318 melanocyte differentiation IMP 23395477
genes like me logo Genes that share ontologies with C10orf11: view

No data available for Pathways by source and SIGNOR curated interactions for C10orf11 Gene

Drugs & Compounds for C10orf11 Gene

No Compound Related Data Available

Transcripts for C10orf11 Gene

mRNA/cDNA for C10orf11 Gene

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

Unigene Clusters for C10orf11 Gene

Chromosome 10 open reading frame 11:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C10orf11

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C10orf11 Gene

No ASD Table

Relevant External Links for C10orf11 Gene

GeneLoc Exon Structure for
C10orf11
ECgene alternative splicing isoforms for
C10orf11

Expression for C10orf11 Gene

mRNA expression in normal human tissues for C10orf11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C10orf11 Gene

This gene is overexpressed in Adrenal Gland (x5.3).

Protein differential expression in normal tissues from HIPED for C10orf11 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (34.4), Adrenal (8.6), and Monocytes (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for C10orf11 Gene



SOURCE GeneReport for Unigene cluster for C10orf11 Gene Hs.118161

mRNA Expression by UniProt/SwissProt for C10orf11 Gene

Q9H2I8-CJ011_HUMAN
Tissue specificity: In the embryo, expressed in melanoblasts. In the fetus, expressed in melanocytes. Not detected in retinal pigment epithelial cells.
genes like me logo Genes that share expression patterns with C10orf11: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for C10orf11 Gene

Orthologs for C10orf11 Gene

This gene was present in the common ancestor of animals.

Orthologs for C10orf11 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia C4H10orf11 35
  • 89.8 (n)
  • 90.71 (a)
C10orf11 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1700112E06Rik 35
  • 86.16 (n)
  • 88.52 (a)
1700112E06Rik 16
1700112E06Rik 36
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C10H10orf11 35
  • 99.16 (n)
  • 99.49 (a)
C10H10orf11 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC681383 35
  • 85.79 (n)
  • 88.52 (a)
oppossum
(Monodelphis domestica)
Mammalia C10orf11 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C10orf11 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves C10ORF11 35
  • 73.16 (n)
  • 75.9 (a)
C10orf11 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C10orf11 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491555 35
  • 66.67 (n)
  • 71.58 (a)
zebrafish
(Danio rerio)
Actinopterygii c10orf11 35
  • 68.21 (n)
  • 68.21 (a)
C13H10orf11 36
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001422 35
  • 50.44 (n)
  • 44.5 (a)
Species with no ortholog for C10orf11:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • cow (Bos Taurus)
  • 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 C10orf11 Gene

ENSEMBL:
Gene Tree for C10orf11 (if available)
TreeFam:
Gene Tree for C10orf11 (if available)

Paralogs for C10orf11 Gene

No data available for Paralogs for C10orf11 Gene

Variants for C10orf11 Gene

Sequence variations from dbSNP and Humsavar for C10orf11 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs1517 -- 75,514,487(+) gatat(A/G)tcccc intron-variant
rs3675 -- 75,643,008(-) ATCAA(C/G)TCATC intron-variant
rs717387 -- 76,127,736(-) AGTCT(C/T)CTAAG intron-variant
rs718767 -- 76,022,377(+) TTTTC(C/T)TAGGC intron-variant
rs719188 -- 76,272,951(+) CCCAC(C/G/T)GGGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C10orf11 Gene

Variant ID Type Subtype PubMed ID
dgv301e1 CNV Complex 17122850
essv17709 CNV CNV 17122850
essv19319 CNV CNV 17122850
nsv8689 CNV Gain 18304495
esv34687 CNV Gain 17911159
esv2625608 CNV Deletion 19546169
esv26573 CNV Gain 19812545
esv2750632 CNV Loss 17666407
esv275537 CNV Loss 21479260
esv33762 CNV Gain 17666407
esv32829 CNV Gain 17666407
esv2738429 CNV Deletion 23290073
esv2738440 CNV Deletion 23290073
nsv519640 CNV Gain 19592680
nsv524107 CNV Loss 19592680
nsv526459 CNV Gain 19592680
esv2660990 CNV Deletion 23128226
nsv831916 CNV Gain 17160897
nsv7243 CNV Loss 18451855
nsv508594 CNV Loss 20534489
nsv511457 CNV Loss 21212237
nsv895731 CNV Loss 21882294
esv33864 CNV Gain 17666407
nsv820128 CNV Gain 19587683
esv2437036 CNV Deletion 19546169
nsv512169 CNV Loss 21212237
nsv435912 CNV Deletion 17901297
esv2397407 CNV Deletion 18987734
esv2431549 CNV Loss 19546169
nsv820526 CNV Deletion 20802225
nsv825473 CNV Loss 20364138
esv2738451 CNV Deletion 23290073
esv5023 CNV Deletion 18987735
nsv498734 CNV Loss 21111241
esv8257 CNV Loss 19470904
esv26848 CNV Gain 19812545
esv1007286 CNV Gain 20482838
dgv164n67 CNV Loss 20364138
esv988231 CNV Gain 20482838
nsv514575 CNV Loss 21397061
nsv442585 CNV CNV 18776908
nsv518212 CNV Loss 19592680
nsv507563 CNV Insertion 20534489
nsv895732 CNV Loss 21882294

Variation tolerance for C10orf11 Gene

Residual Variation Intolerance Score: 43.61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.60; 72.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C10orf11 Gene

HapMap Linkage Disequilibrium report
C10orf11
Human Gene Mutation Database (HGMD)
C10orf11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C10orf11 Gene

Disorders for C10orf11 Gene

MalaCards: The human disease database

(4) MalaCards diseases for C10orf11 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
albinism, oculocutaneous, type vii
  • oca7
osteogenesis imperfecta, type xiv
  • osteogenesis imperfecta 14
albinism
oculocutaneous albinism
  • albinism, oculocutaneous
- elite association

UniProtKB/Swiss-Prot

CJ011_HUMAN
  • Albinism, oculocutaneous, 7 (OCA7) [MIM:615179]: A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus. {ECO:0000269 PubMed:23395477}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for C10orf11

Genetic Association Database (GAD)
C10orf11
Human Genome Epidemiology (HuGE) Navigator
C10orf11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C10orf11
genes like me logo Genes that share disorders with C10orf11: view

No data available for Genatlas for C10orf11 Gene

Publications for C10orf11 Gene

  1. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. (PMID: 23395477) GrA … Rosenberg T. (Am. J. Hum. Genet. 2013) 2 67
  2. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 67
  3. Genome-wide association study of lung function phenotypes in a founder population. (PMID: 23932459) Yao T.C. … Ober C. (J. Allergy Clin. Immunol. 2014) 67
  4. Genetic variants associated with disordered eating. (PMID: 23568457) Wade T.D. … Martin N.G. (Int J Eat Disord 2013) 67
  5. A genome-wide association study identifies locus at 10q22 associated with clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients in Japanese. (PMID: 22180457) Kiyotani K. … Zembutsu H. (Hum. Mol. Genet. 2012) 67

Products for C10orf11 Gene

Sources for C10orf11 Gene

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