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Aliases for C10orf11 Gene

Aliases for C10orf11 Gene

  • Chromosome 10 Open Reading Frame 11 2 3
  • Leucine-Rich Repeat-Containing Protein C10orf11 3
  • Oculocutaneous Albinism 7 2
  • Autosomal Recessive 2
  • CDA017 3
  • OCA7 6

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 oculocutaneous albinism.

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

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 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 :
  • Q9H2I8
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.

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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 3
cytosol 2
extracellular 1
golgi apparatus 1
mitochondrion 1

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

Pathways 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 for C10orf11 Gene

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

Primer Products

  • OriGene qSTAR qPCR primer pairs 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 (5.3).

Integrated Proteomics: protein expression 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 expressions with C10orf11: view

In Situ Assay Products

Orthologs for C10orf11 Gene

This gene was present in the common ancestor of animals.

Orthologs for C10orf11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C10H10orf11 35
  • 99.16 (n)
  • 99.49 (a)
C10H10orf11 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C10orf11 36
  • 81 (a)
OneToOne
C4H10orf11 35
  • 89.8 (n)
  • 90.71 (a)
mouse
(Mus musculus)
Mammalia 1700112E06Rik 35
  • 86.16 (n)
  • 88.52 (a)
1700112E06Rik 16
1700112E06Rik 36
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C10orf11 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C10orf11 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC681383 35
  • 85.79 (n)
  • 88.52 (a)
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
rs717650 -- 76,253,553(-) AGCTA(A/G)GCCAA intron-variant
rs718767 -- 76,022,377(+) TTTTC(C/T)TAGGC 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

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

MalaCards: The human disease database. (3) Diseases for C10orf11 Gene including...

Search for C10orf11 Gene in MalaCards »

(1) OMIM Diseases for C10orf11 Gene (614537)

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
genes like me logo Genes that share disorders with C10orf11: view

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 3 4
  2. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (PMID: 21946350) Soler Artigas M. … Tobin M.D. (Nat. Genet. 2011) 3 48
  3. 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) 3 48
  4. Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. (PMID: 23284291) Hancock D.B. … London S.J. (PLoS Genet. 2012) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for C10orf11 Gene

Sources for C10orf11 Gene

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