LRMDA (leucine rich melanocyte differentiation associated)

2016-04-01   Kunal Ray  , Mainak Sengupta  , Sampurna Ghosh  

Identity

HGNC
LRMDA
LOCATION
10q22.3
IMAGE
Atlas Image
LEGEND
Cytogenetic band showing C10orf11 locus (http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf11&keywords= C10orf11).
LOCUSID
83938
ALIAS
Oculocutaneous Albinism 7,C10orf11 (Chromosome 10 Open Reading Frame 11),CDA017

Abstract

C10orf11 encodes a leucine-rich repeat protein having a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCAVII).

DNA/RNA

Description

In Chromosome: 10, the 1,128,715 bases long gene starts from 75,431,453bp from pter and ends 76,560,167 bp from pter; Orientation: Plus strand. It contains 6 exons.

Transcription

C10orf11 encodes 16 splice variants of which 4 are protein coding and the remaining are processed transcripts.

Proteins

Description

The gene encodes a 198 amino acids long leucine-rich repeat-containing protein of molecular mass 22568 Da.

Expression

The gene is expressed in embryonic melanoblasts and fetal melanocyte and has not been detected in retinal pigment epithelial cells. In addition the expression of the gene in the following tissue types are evident by its existence in the corresponding cDNA libraries: adrenal cortex, brain, cartilage, cerebellum, endocrine, eye, fetus, heart, kidney, liver, lung, muscle, nervous, pancreas, pancreatic islet, placenta, pooled tissue, prostate, skin, stem cell, testis and uterus (http://cgap.nci.nih.gov/Genes/GeneInfo?ORG=Hs&CID=118161&LLNO=83938).

Localisation

10q22.3

Function

The precise function of C10ORF11 is not yet known. However, there is some evidence that the protein might have a role in melanocyte differentiation.

Mutations

Germinal

C10orf11 mutations are responsible for Oculocutaneous Albinism type 7 (OCA7). Nine Faroese patients and one Danish patient of Lithuanian origin were found to have mutations in C10orf11 gene representing OCAVII (Gronskov et al., 2014). These patients have a light skin pigmentation that is reported to be lighter than their relatives. Hair color ranges from light blond to dark brown. Eye findings include nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and very sparse peripheral ocular fundus pigmentation.

Article Bibliography

Pubmed IDLast YearTitleAuthors
233954772013Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.Grønskov K et al
221804572012A genome-wide association study identifies locus at 10q22 associated with clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients in Japanese.Kiyotani K et al

Other Information

Locus ID:

NCBI: 83938
MIM: 614537
HGNC: 23405
Ensembl: ENSG00000148655

Variants:

dbSNP: 83938
ClinVar: 83938
TCGA: ENSG00000148655
COSMIC: LRMDA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148655ENST00000372499Q9H2I8
ENSG00000148655ENST00000496424M0R2H0
ENSG00000148655ENST00000611255A0A087WWI0
ENSG00000148655ENST00000611306A0A087WZZ7

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
198442532010Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.10
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
198442532010Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.10
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83

Citation

Kunal Ray ; Mainak Sengupta ; Sampurna Ghosh

LRMDA (leucine rich melanocyte differentiation associated)

Atlas Genet Cytogenet Oncol Haematol. 2016-04-01

Online version: http://atlasgeneticsoncology.org/gene/60852/lrmda-(leucine-rich-melanocyte-differentiation-associated)