Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LRMDA Gene

Aliases for LRMDA Gene

  • Leucine Rich Melanocyte Differentiation Associated 2 3 5
  • Leucine-Rich Melanocyte Differentiation-Associated Protein 3
  • Leucine-Rich Repeat-Containing Protein C10orf11 3
  • Oculocutaneous Albinism 7, Autosomal Recessive 2
  • Chromosome 10 Open Reading Frame 11 2
  • C10orf11 3
  • CDA017 3

External Ids for LRMDA Gene

Previous HGNC Symbols for LRMDA Gene

  • C10orf11

Summaries for LRMDA Gene

Entrez Gene Summary for LRMDA 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 LRMDA Gene

LRMDA (Leucine Rich Melanocyte Differentiation Associated) is a Protein Coding gene. Diseases associated with LRMDA include Albinism, Oculocutaneous, Type Vii and Osteogenesis Imperfecta, Type Xiv.

UniProtKB/Swiss-Prot for LRMDA Gene

  • Required for melanocyte differentiation.

Additional gene information for LRMDA Gene

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

Genomics for LRMDA Gene

Regulatory Elements for LRMDA Gene

Enhancers for LRMDA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H075394 2.2 VISTA FANTOM5 ENCODE dbSUPER 30 -29.0 -28955 15.2 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 KAT6B LRMDA LOC101929234 ENSG00000234149 LOC102723439 ENSG00000236842 ZNF503 PIR36955
GH10H075612 2.3 Ensembl ENCODE 17.1 +182.4 182431 2.2 PKNOX1 ARNT FEZF1 ZNF2 ZNF121 ZNF302 KLF7 RUNX3 ZNF488 ZNF623 LRMDA ENSG00000234149 MIR606 ENSG00000236842 ZNF503 ZNF503-AS2 GC10M075584 GC10P075624
GH10H076033 3.1 VISTA FANTOM5 Ensembl ENCODE 12.1 +604.2 604185 5 PKNOX1 FOXA2 ATF1 MLX ARID4B FEZF1 DMAP1 ZNF2 YY1 SLC30A9 LRMDA ZNF503 ZNF503-AS2 ENSG00000236842 RNU6-673P GC10P075984 PIR51450
GH10H075468 1.5 Ensembl ENCODE dbSUPER 21.1 +37.8 37779 1.6 PKNOX1 FEZF1 ZNF416 KLF7 ATF7 ZNF548 FOS DEK ZNF518A ZFP41 KAT6B LRMDA ENSG00000236842 GC10P075464 GC10P075560
GH10H075427 1.5 Ensembl ENCODE dbSUPER 20.1 -1.4 -1417 4.8 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 GLI4 ZNF202 SP5 PPARG KAT6B LRMDA LOC101929234 ENSG00000273248
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LRMDA on UCSC Golden Path with GeneCards custom track

Promoters for LRMDA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000030079 247 1001 ELF3 NFIB ARID4B DMAP1 RAD21 RARA THAP11 ZNF202 HMG20B SP5

Genomic Locations for LRMDA Gene

Genomic Locations for LRMDA Gene
chr10:75,431,453-76,560,167
(GRCh38/hg38)
Size:
1,128,715 bases
Orientation:
Plus strand
chr10:77,360,998-78,319,925
(GRCh37/hg19)

Genomic View for LRMDA Gene

Genes around LRMDA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LRMDA Gene

Proteins for LRMDA Gene

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

    Protein Symbol:
    Q9H2I8-LRMDA_HUMAN
    Recommended name:
    Leucine-rich melanocyte differentiation-associated protein
    Protein Accession:
    Q9H2I8
    Secondary Accessions:
    • B1AVW6

    Protein attributes for LRMDA Gene

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

neXtProt entry for LRMDA Gene

Post-translational modifications for LRMDA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LRMDA Gene

Domains & Families for LRMDA Gene

Gene Families for LRMDA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for LRMDA Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LRMDA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for LRMDA Gene

Function for LRMDA Gene

Molecular function for LRMDA Gene

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

Phenotypes From GWAS Catalog for LRMDA Gene

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

Human Phenotype Ontology for LRMDA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LRMDA Gene

MGI Knock Outs for LRMDA:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for LRMDA Gene

Localization for LRMDA 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 LRMDA gene
Compartment Confidence
nucleus 4
cytosol 2
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
  • Cytosol (2)
See all subcellular structures

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

Pathways & Interactions for LRMDA Gene

SuperPathways for LRMDA Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRMDA Gene

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

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

Drugs & Compounds for LRMDA Gene

(1) Drugs for LRMDA Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tamoxifen Approved Pharma Antagonist TGF-β modulatory and PKC inhibitory effects, ER antagonist, Anti-Estrogens 399
genes like me logo Genes that share compounds with LRMDA: view

Transcripts for LRMDA Gene

mRNA/cDNA for LRMDA Gene

Clone Products

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

No ASD Table

Relevant External Links for LRMDA Gene

GeneLoc Exon Structure for
LRMDA
ECgene alternative splicing isoforms for
LRMDA

Expression for LRMDA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of LRMDA Gene:

LRMDA

mRNA Expression by UniProt/SwissProt for LRMDA Gene:

Q9H2I8-LRMDA_HUMAN
Tissue specificity: In the embryo, expressed in melanoblasts. In the fetus, expressed in melanocytes. Not detected in retinal pigment epithelial cells.

Evidence on tissue expression from TISSUES for LRMDA Gene

  • Blood(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LRMDA Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
  • nervous
Organs:
Head and neck:
  • brain
  • eye
  • head
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with LRMDA: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for LRMDA Gene

Orthologs for LRMDA Gene

This gene was present in the common ancestor of animals.

Orthologs for LRMDA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C10H10orf11 33 34
  • 99.16 (n)
dog
(Canis familiaris)
Mammalia C4H10orf11 33
  • 89.8 (n)
C10orf11 34
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1700112E06Rik 33 34
  • 86.16 (n)
Lrmda 16
rat
(Rattus norvegicus)
Mammalia LOC681383 33
  • 85.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C10orf11 34
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C10orf11 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves C10ORF11 33
  • 73.16 (n)
C10orf11 34
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C10orf11 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491555 33
  • 66.67 (n)
zebrafish
(Danio rerio)
Actinopterygii c10orf11 33
  • 68.21 (n)
C13H10orf11 34
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001422 33
  • 50.44 (n)
Species where no ortholog for LRMDA was found in the sources mined by GeneCards:
  • 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 LRMDA Gene

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

Paralogs for LRMDA Gene

No data available for Paralogs for LRMDA Gene

Variants for LRMDA Gene

Sequence variations from dbSNP and Humsavar for LRMDA Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs587776952 Pathogenic 76,557,271(+) TTATC(C/T)GAGAT nc-transcript-variant, reference, synonymous-codon, stop-gained
rs587776953 Pathogenic 76,036,026(+) TGAGC(-/C)GCATT nc-transcript-variant, reference, frameshift-variant
rs886043155 Pathogenic 76,036,132(+) AGAAC(C/T)GAATA nc-transcript-variant, reference, stop-gained
rs878854351 Likely pathogenic 76,047,256(+) CCCAA(A/C)GAGCT nc-transcript-variant, reference, missense
rs147768808 Likely benign 76,036,069(+) ATCAG(C/T)TGGGG nc-transcript-variant, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv982899 CNV deletion 23825009
nsv950979 CNV duplication 24416366
nsv8689 CNV gain 18304495
nsv831916 CNV gain 17160897
nsv825473 CNV loss 20364138
nsv820526 CNV deletion 20802225
nsv820128 CNV gain 19587683
nsv7243 CNV deletion 18451855
nsv551542 CNV loss 21841781
nsv551540 CNV gain 21841781
nsv551538 CNV loss 21841781
nsv551537 CNV loss 21841781
nsv526459 CNV gain 19592680
nsv524107 CNV loss 19592680
nsv519640 CNV gain 19592680
nsv518212 CNV loss 19592680
nsv514575 CNV loss 21397061
nsv512169 CNV loss 21212237
nsv511457 CNV loss 21212237
nsv508594 CNV deletion 20534489
nsv507563 OTHER sequence alteration 20534489
nsv498734 CNV loss 21111241
nsv477312 CNV novel sequence insertion 20440878
nsv442585 CNV loss 18776908
nsv435912 CNV deletion 17901297
nsv1161976 CNV deletion 26073780
nsv1151704 CNV deletion 26484159
nsv1150621 CNV deletion 26484159
nsv1125336 OTHER inversion 24896259
nsv1074941 CNV deletion 25765185
esv988231 CNV gain 20482838
esv8257 CNV loss 19470904
esv5023 CNV loss 18987735
esv3891862 CNV loss 25118596
esv3623867 CNV loss 21293372
esv3623866 CNV loss 21293372
esv3623865 CNV loss 21293372
esv3623863 CNV gain 21293372
esv3623860 CNV loss 21293372
esv3623859 OTHER inversion 21293372
esv3623858 CNV loss 21293372
esv3623857 CNV loss 21293372
esv3623856 CNV gain 21293372
esv3623855 CNV gain 21293372
esv3577472 CNV gain 25503493
esv3577449 CNV gain 25503493
esv3546526 CNV deletion 23714750
esv34687 CNV gain 17911159
esv33864 CNV gain 17666407
esv33762 CNV gain 17666407
esv32829 CNV gain 17666407
esv2761605 CNV loss 21179565
esv2759768 CNV gain+loss 17122850
esv275537 CNV loss 21479260
esv2750632 CNV loss 17666407
esv2738451 CNV deletion 23290073
esv2738440 CNV deletion 23290073
esv2738429 CNV deletion 23290073
esv26848 CNV gain 19812545
esv2660990 CNV deletion 23128226
esv26573 CNV gain 19812545
esv2625608 CNV deletion 19546169
esv2437036 CNV deletion 19546169
esv2431549 CNV loss 19546169
esv2397407 CNV deletion 18987734
esv1007286 CNV gain 20482838
dgv480n106 CNV deletion 24896259
dgv254e212 CNV gain 25503493
dgv253e212 CNV gain 25503493
dgv22n73 CNV deletion 24416366
dgv164n67 CNV loss 20364138
dgv150e214 CNV loss 21293372
dgv1269n54 CNV gain+loss 21841781
dgv1268n54 CNV gain 21841781
dgv1267n54 CNV loss 21841781

Variation tolerance for LRMDA Gene

Residual Variation Intolerance Score: 43.6% 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 LRMDA Gene

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

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

Disorders for LRMDA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
albinism, oculocutaneous, type vii
  • oculocutaneous albinism type 7
osteogenesis imperfecta, type xiv
  • osteogenesis imperfecta type 14
albinism
oculocutaneous albinism
  • albinism, oculocutaneous
- elite association - COSMIC cancer census association via MalaCards
Search LRMDA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LRMDA_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 LRMDA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRMDA
genes like me logo Genes that share disorders with LRMDA: view

No data available for Genatlas for LRMDA Gene

Publications for LRMDA Gene

  1. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. (PMID: 23395477) Grønskov K … Rosenberg T (American journal of human genetics 2013) 2 3 4 60
  2. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4 60
  3. Genome-wide association study of lung function phenotypes in a founder population. (PMID: 23932459) Yao TC … Ober C (The Journal of allergy and clinical immunology 2014) 3 60
  4. Genetic variants associated with disordered eating. (PMID: 23568457) Wade TD … Martin NG (The International journal of eating disorders 2013) 3 60
  5. Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. (PMID: 23284291) Hancock DB … London SJ (PLoS genetics 2012) 3 60

Products for LRMDA Gene

Sources for LRMDA Gene

Content
Loading form....