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Aliases for LRMDA Gene

Aliases for LRMDA Gene

  • Leucine Rich Melanocyte Differentiation Associated 2 3 5
  • Leucine-Rich Melanocyte Differentiation-Associated Protein 3 4
  • 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 Albinism. An important paralog of this gene is SNRPA1.

UniProtKB/Swiss-Prot for LRMDA Gene

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

GeneHancer (GH) Regulatory Elements for LRMDA Gene

Promoters and enhancers for LRMDA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J075427 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 620.1 -1.2 -1237 5.2 HDGF SP1 ELF3 ZNF148 CEBPG RERE AHR TFE3 SP7 HNF1A LRMDA ENSG00000236842 KAT6B ENSG00000272692 ENSG00000273248
GH10J075782 Promoter 1.1 EPDnew Ensembl 600.1 +351.2 351242 0.6 PKNOX1 LRMDA ZNF503 ZNF503-AS2 GC10P075790 ENSG00000228280
GH10J075394 Promoter/Enhancer 3 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 30 -29.0 -28960 15.2 HDGF ZFX ELF3 MNT CBFA2T2 ZNF148 NKRF POLR2A RERE ZNF687 ZNF503 ZNF503-AS2 ENSG00000270087 KAT6B LRMDA ENSG00000272692 ENSG00000236842 PIR36955 ENSG00000273248 LOC101929234
GH10J076033 Promoter/Enhancer 2.6 VISTA UCNEbase FANTOM5 Ensembl ENCODE 12.1 +604.2 604179 5 CTCF ELF3 MNT POLR2A CEBPG RERE ZNF384 ZSCAN21 AHR ZNF24 LRMDA ZNF503 ZNF503-AS2 ENSG00000236842 RNU6-673P GC10P075984 PIR51450
GH10J075451 Enhancer 1.2 UCNEbase Ensembl ENCODE 21.3 +18.4 18417 2.9 SP7 PRDM1 MZF1 POLR2A KLF9 CEBPB ZBTB48 ZFHX2 KLF17 GLIS1 ENSG00000279814 LRMDA MIR606 ENSG00000236842
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRMDA on UCSC Golden Path with GeneCards custom track

Genomic Locations for LRMDA Gene

Genomic Locations for LRMDA Gene
chr10:75,431,458-76,560,168
(GRCh38/hg38)
Size:
1,128,711 bases
Orientation:
Plus strand
chr10:77,360,998-78,319,925
(GRCh37/hg19)
Size:
958,928 bases
Orientation:
Plus strand

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

Other Protein References for LRMDA Gene

No data available for DME Specific Peptides for LRMDA Gene

Domains & Families for LRMDA Gene

Gene Families for LRMDA Gene

HGNC:
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:
  • Leucine-rich repeat-containing protein C10orf11 (CJ011_HUMAN)

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:
  • Lrmda Lrmda<tm1e(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for LRMDA - Now 50% OFF >
  • * LRMDA as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * LRMDA tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 3
mitochondrion 1
cytosol 1
extracellular 0

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

PathCards logo

SuperPathways for LRMDA Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRMDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IEA --
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 437
genes like me logo Genes that share compounds with LRMDA: view

Transcripts for LRMDA Gene

mRNA/cDNA for LRMDA Gene

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

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for LRMDA - Now 50% OFF >
  • * LRMDA as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * LRMDA tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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
Regions:
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 35 34
  • 99.16 (n)
OneToOne
dog
(Canis familiaris)
Mammalia C4H10orf11 34
  • 89.8 (n)
C10orf11 35
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1700112E06Rik 35 34
  • 86.16 (n)
OneToOne
Lrmda 17
rat
(Rattus norvegicus)
Mammalia LOC681383 34
  • 85.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C10orf11 35
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C10orf11 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves C10ORF11 34
  • 73.16 (n)
C10orf11 35
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C10orf11 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491555 34
  • 66.67 (n)
zebrafish
(Danio rerio)
Actinopterygii c10orf11 34
  • 68.21 (n)
C13H10orf11 35
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001422 34
  • 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

Paralogs for LRMDA Gene

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

Variants for LRMDA Gene

Sequence variations from dbSNP and Humsavar for LRMDA Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs147768808 likely-benign, not specified, Albinism, oculocutaneous, type VII 76,036,069(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs35349706 benign, not specified, - 76,324,426(+) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs587776952 pathogenic, Albinism, oculocutaneous, type VII 76,557,271(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs587776953 pathogenic, Albinism, oculocutaneous, type VII 76,036,026(+) C/CC coding_sequence_variant, frameshift, non_coding_transcript_variant
rs878854351 likely-pathogenic, Albinism, oculocutaneous, type VII 76,047,256(+) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant

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

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

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)

Additional Variant Information for LRMDA Gene

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

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

Disorders for LRMDA Gene

MalaCards: The human disease database

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

- 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.
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 58
  2. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4 58
  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 58
  4. Genetic variants associated with disordered eating. (PMID: 23568457) Wade TD … Martin NG (The International journal of eating disorders 2013) 3 58
  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 (Human molecular genetics 2012) 3 58

Products for LRMDA Gene

Sources for LRMDA Gene

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