LCA5 (lebercilin LCA5)

2014-11-01  

Identity

HGNC
LCA5
LOCATION
6q14.1
LOCUSID
167691
ALIAS
C6orf152

Other Information

Locus ID:

NCBI: 167691
MIM: 611408
HGNC: 31923
Ensembl: ENSG00000135338

Variants:

dbSNP: 167691
ClinVar: 167691
TCGA: ENSG00000135338
COSMIC: LCA5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135338ENST00000369846Q86VQ0
ENSG00000135338ENST00000369846A0A384MDJ7
ENSG00000135338ENST00000392959Q86VQ0
ENSG00000135338ENST00000392959A0A384MDJ7
ENSG00000135338ENST00000467898S4R3K6

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
175460292007Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.68
198000482009OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.64
195037382009Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.16
183349592008Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.8
239461332013Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.6
241444512014Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.6
180008842007Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.5
218501682011Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.5
270672582016Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy.3
191725132009LCA5, a rare genetic cause of leber congenital amaurosis in Koreans.2

Citation

Dessen P

LCA5 (lebercilin LCA5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/65186/lca5