LRMDA (leucine rich melanocyte differentiation associated)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83938
Gene name Gene Name - the full gene name approved by the HGNC.
Leucine rich melanocyte differentiation associated
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LRMDA
Synonyms (NCBI Gene) Gene synonyms aliases
C10orf11, CDA017
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.2-q22.3
Summary Summary of gene provided in NCBI Entrez 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 tran
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs146123023 C>- Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, intron variant, frameshift variant
rs147768808 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, non coding transcript variant, synonymous variant
rs587776952 C>T Pathogenic Coding sequence variant, stop gained, non coding transcript variant
rs587776953 ->C Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
rs878854351 C>A,T Likely-pathogenic Synonymous variant, non coding transcript variant, coding sequence variant, missense variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
GO ID Ontology Definition Evidence Reference
GO:0030154 Process Cell differentiation IEA
GO:0030318 Process Melanocyte differentiation IBA
GO:0030318 Process Melanocyte differentiation IMP 23395477
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614537 23405 ENSG00000148655
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9H2I8
Protein name Leucine-rich melanocyte differentiation-associated protein
Protein function Required for melanocyte differentiation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14580 LRR_9 5 → 150 Repeat
Tissue specificity TISSUE SPECIFICITY: In the embryo, expressed in melanoblasts. In the fetus, expressed in melanocytes. Not detected in retinal pigment epithelial cells. {ECO:0000269|PubMed:23395477}.
Sequence
Sequence length 198
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Oculocutaneous albinism oculocutaneous albinism type 7 rs587776952, rs587776953, rs878854351 N/A
Show/Hide Unknown Diseases (9)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anorexia Anorexia nervosa N/A N/A GWAS
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Breast cancer Response to tamoxifen in breast cancer N/A N/A GWAS
Diabetes Type 2 diabetes, Mild obesity-related type 2 diabetes N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Albinism Associate 35488210
Chromosome Deletion Associate 19844253
Cognition Disorders Associate 19844253
Diabetes Mellitus Associate 36104811