Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	167691
Gene name Gene Name - the full gene name approved by the HGNC.	Lebercilin LCA5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LCA5
Synonyms (NCBI Gene) Gene synonyms aliases	C6orf152
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q14.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]

Show/Hide all(9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918165	G>A	Pathogenic	Stop gained, coding sequence variant
rs183261547	G>A,C	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs746351112	C>A,T	Likely-pathogenic	Splice donor variant
rs781035395	G>A	Pathogenic	Stop gained, coding sequence variant
rs786205653	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs866395428	G>A	Pathogenic	Stop gained, coding sequence variant
rs878853382	TAGCTTC>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1057519136	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1178243254	C>T	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(154)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019013	hsa-miR-335-5p	Microarray	18185580
MIRT019478	hsa-miR-148b-3p	Microarray	17612493
MIRT021827	hsa-miR-132-3p	Microarray	17612493
MIRT023341	hsa-miR-122-5p	Microarray	17612493
MIRT025623	hsa-miR-10a-5p	Sequencing	20371350
MIRT1105511	hsa-miR-200b	CLIP-seq
MIRT1105512	hsa-miR-200c	CLIP-seq
MIRT1105513	hsa-miR-3973	CLIP-seq
MIRT1105514	hsa-miR-4272	CLIP-seq
MIRT1105515	hsa-miR-429	CLIP-seq
MIRT1105516	hsa-miR-4724-5p	CLIP-seq
MIRT1105517	hsa-miR-494	CLIP-seq
MIRT1105518	hsa-miR-520g	CLIP-seq
MIRT1105519	hsa-miR-520h	CLIP-seq
MIRT1105520	hsa-miR-1298	CLIP-seq
MIRT1105521	hsa-miR-155	CLIP-seq
MIRT1105522	hsa-miR-182	CLIP-seq
MIRT1105523	hsa-miR-205	CLIP-seq
MIRT1105524	hsa-miR-320e	CLIP-seq
MIRT1105525	hsa-miR-3616-5p	CLIP-seq
MIRT1105526	hsa-miR-3647-5p	CLIP-seq
MIRT1105527	hsa-miR-4470	CLIP-seq
MIRT1105528	hsa-miR-4517	CLIP-seq
MIRT1105529	hsa-miR-4720-3p	CLIP-seq
MIRT1105530	hsa-miR-4729	CLIP-seq
MIRT1105531	hsa-miR-4795-5p	CLIP-seq
MIRT1105532	hsa-miR-4804-3p	CLIP-seq
MIRT1105533	hsa-miR-487a	CLIP-seq
MIRT1105534	hsa-miR-520d-5p	CLIP-seq
MIRT1105535	hsa-miR-524-5p	CLIP-seq
MIRT1105536	hsa-miR-573	CLIP-seq
MIRT1105537	hsa-miR-586	CLIP-seq
MIRT1105538	hsa-miR-590-3p	CLIP-seq
MIRT1105539	hsa-miR-889	CLIP-seq
MIRT2029085	hsa-miR-1203	CLIP-seq
MIRT2029086	hsa-miR-3125	CLIP-seq
MIRT2029087	hsa-miR-3916	CLIP-seq
MIRT2029088	hsa-miR-4428	CLIP-seq
MIRT2029089	hsa-miR-4633-3p	CLIP-seq
MIRT2260086	hsa-miR-4280	CLIP-seq
MIRT2260087	hsa-miR-4420	CLIP-seq
MIRT2260088	hsa-miR-4704-3p	CLIP-seq
MIRT1105534	hsa-miR-520d-5p	CLIP-seq
MIRT1105535	hsa-miR-524-5p	CLIP-seq
MIRT2560312	hsa-miR-105	CLIP-seq
MIRT2560313	hsa-miR-1183	CLIP-seq
MIRT2029085	hsa-miR-1203	CLIP-seq
MIRT2560314	hsa-miR-1224-5p	CLIP-seq
MIRT2560315	hsa-miR-128	CLIP-seq
MIRT2560316	hsa-miR-1291	CLIP-seq
MIRT1105520	hsa-miR-1298	CLIP-seq
MIRT2560317	hsa-miR-1304	CLIP-seq
MIRT2560318	hsa-miR-298	CLIP-seq
MIRT2560319	hsa-miR-3065-5p	CLIP-seq
MIRT2029086	hsa-miR-3125	CLIP-seq
MIRT2560320	hsa-miR-3129-3p	CLIP-seq
MIRT2560321	hsa-miR-3137	CLIP-seq
MIRT2560322	hsa-miR-3143	CLIP-seq
MIRT2560323	hsa-miR-3146	CLIP-seq
MIRT2560324	hsa-miR-3189-3p	CLIP-seq
MIRT2560325	hsa-miR-3202	CLIP-seq
MIRT2560326	hsa-miR-323b-3p	CLIP-seq
MIRT2560327	hsa-miR-328	CLIP-seq
MIRT2560328	hsa-miR-331-3p	CLIP-seq
MIRT2560329	hsa-miR-3620	CLIP-seq
MIRT2560330	hsa-miR-3653	CLIP-seq
MIRT2560331	hsa-miR-3667-3p	CLIP-seq
MIRT2560332	hsa-miR-3671	CLIP-seq
MIRT2560333	hsa-miR-3714	CLIP-seq
MIRT2560334	hsa-miR-3915	CLIP-seq
MIRT2029087	hsa-miR-3916	CLIP-seq
MIRT2560335	hsa-miR-3919	CLIP-seq
MIRT1105513	hsa-miR-3973	CLIP-seq
MIRT2560336	hsa-miR-421	CLIP-seq
MIRT2560337	hsa-miR-425	CLIP-seq
MIRT1105514	hsa-miR-4272	CLIP-seq
MIRT2260086	hsa-miR-4280	CLIP-seq
MIRT2560338	hsa-miR-4422	CLIP-seq
MIRT2029088	hsa-miR-4428	CLIP-seq
MIRT2560339	hsa-miR-4460	CLIP-seq
MIRT1105528	hsa-miR-4517	CLIP-seq
MIRT2029089	hsa-miR-4633-3p	CLIP-seq
MIRT2560340	hsa-miR-4635	CLIP-seq
MIRT2560341	hsa-miR-4637	CLIP-seq
MIRT2560342	hsa-miR-4662a-3p	CLIP-seq
MIRT2560343	hsa-miR-4662a-5p	CLIP-seq
MIRT2560344	hsa-miR-4689	CLIP-seq
MIRT2560345	hsa-miR-4704-5p	CLIP-seq
MIRT2560346	hsa-miR-4727-3p	CLIP-seq
MIRT2560347	hsa-miR-4734	CLIP-seq
MIRT2560348	hsa-miR-4742-3p	CLIP-seq
MIRT2560349	hsa-miR-4747-5p	CLIP-seq
MIRT2560350	hsa-miR-4751	CLIP-seq
MIRT2560351	hsa-miR-4762-5p	CLIP-seq
MIRT2560352	hsa-miR-4764-3p	CLIP-seq
MIRT2560353	hsa-miR-4766-5p	CLIP-seq
MIRT2560354	hsa-miR-4767	CLIP-seq
MIRT2560355	hsa-miR-4775	CLIP-seq
MIRT2560356	hsa-miR-4803	CLIP-seq
MIRT2560357	hsa-miR-486-5p	CLIP-seq
MIRT1105533	hsa-miR-487a	CLIP-seq
MIRT1105517	hsa-miR-494	CLIP-seq
MIRT2560358	hsa-miR-500a	CLIP-seq
MIRT2560359	hsa-miR-502-5p	CLIP-seq
MIRT2560360	hsa-miR-505	CLIP-seq
MIRT2560361	hsa-miR-5096	CLIP-seq
MIRT2560362	hsa-miR-515-5p	CLIP-seq
MIRT2560363	hsa-miR-518a-5p	CLIP-seq
MIRT1105534	hsa-miR-520d-5p	CLIP-seq
MIRT1105518	hsa-miR-520g	CLIP-seq
MIRT1105519	hsa-miR-520h	CLIP-seq
MIRT1105535	hsa-miR-524-5p	CLIP-seq
MIRT2560364	hsa-miR-526b	CLIP-seq
MIRT2560365	hsa-miR-527	CLIP-seq
MIRT2560366	hsa-miR-539	CLIP-seq
MIRT2560367	hsa-miR-543	CLIP-seq
MIRT2560368	hsa-miR-548a-3p	CLIP-seq
MIRT2560369	hsa-miR-548e	CLIP-seq
MIRT2560370	hsa-miR-548f	CLIP-seq
MIRT2560371	hsa-miR-554	CLIP-seq
MIRT2560372	hsa-miR-580	CLIP-seq
MIRT1105537	hsa-miR-586	CLIP-seq
MIRT1105538	hsa-miR-590-3p	CLIP-seq
MIRT2560373	hsa-miR-607	CLIP-seq
MIRT2560374	hsa-miR-628-3p	CLIP-seq
MIRT2560375	hsa-miR-654-3p	CLIP-seq
MIRT2560376	hsa-miR-7	CLIP-seq
MIRT2560313	hsa-miR-1183	CLIP-seq
MIRT2560316	hsa-miR-1291	CLIP-seq
MIRT2029086	hsa-miR-3125	CLIP-seq
MIRT2560320	hsa-miR-3129-3p	CLIP-seq
MIRT2560321	hsa-miR-3137	CLIP-seq
MIRT2560325	hsa-miR-3202	CLIP-seq
MIRT2560327	hsa-miR-328	CLIP-seq
MIRT2560328	hsa-miR-331-3p	CLIP-seq
MIRT2029087	hsa-miR-3916	CLIP-seq
MIRT1105513	hsa-miR-3973	CLIP-seq
MIRT1105514	hsa-miR-4272	CLIP-seq
MIRT2260086	hsa-miR-4280	CLIP-seq
MIRT2029088	hsa-miR-4428	CLIP-seq
MIRT2560342	hsa-miR-4662a-3p	CLIP-seq
MIRT2560343	hsa-miR-4662a-5p	CLIP-seq
MIRT2560349	hsa-miR-4747-5p	CLIP-seq
MIRT2560357	hsa-miR-486-5p	CLIP-seq
MIRT1105517	hsa-miR-494	CLIP-seq
MIRT2560358	hsa-miR-500a	CLIP-seq
MIRT1105534	hsa-miR-520d-5p	CLIP-seq
MIRT1105518	hsa-miR-520g	CLIP-seq
MIRT1105519	hsa-miR-520h	CLIP-seq
MIRT1105535	hsa-miR-524-5p	CLIP-seq
MIRT2560368	hsa-miR-548a-3p	CLIP-seq
MIRT2560369	hsa-miR-548e	CLIP-seq
MIRT2560370	hsa-miR-548f	CLIP-seq
MIRT1105537	hsa-miR-586	CLIP-seq

Show/Hide all(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19800048, 22940612, 25416956, 26638075, 27173435, 28514442, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	21606596
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0015031	Process	Protein transport	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IDA	21606596
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042073	Process	Intraciliary transport	IBA
GO:0042995	Component	Cell projection	IEA
GO:0044877	Function	Protein-containing complex binding	IDA	21606596
GO:0045494	Process	Photoreceptor cell maintenance	ISS

MIM	HGNC	e!Ensembl
611408	31923	ENSG00000135338

Protein

UniProt ID

Q86VQ0

Protein name

Lebercilin (Leber congenital amaurosis 5 protein)

Protein function

Involved in intraflagellar protein (IFT) transport in photoreceptor cilia.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15619	Lebercilin	100 → 292	Ciliary protein causing Leber congenital amaurosis disease	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:17546029}.

Sequence

MGERAGSPGTDQERKAGKHHYSYLSDFETPQSSGRSSLVSSSPASVRRKNPKRQTSDGQV
HHQAPRKPSPKGLPNRKGVRVGFRSQSLNREPLRKDTDLVTKRILSARLLKINELQNEVS
ELQVKLAELLKENKSLKRLQYRQEKALNKFEDAENEISQLIFRHNNEITALKERLRKSQE
KERATEKRVKDTESELFRTKFSLQKLKEISEARHLPERDDLAKKLVSAELKLDDTERRIK
ELSKNLELSTNSFQRQLLAERKRAYEAHDENKVLQKEVQRLYHKLKEKERELDIKNIYSN
RLPKSSPNKEKELALRKNAACQSDFADLCTKGVQTMEDFKPEEYPLTPETIMCYENKWEE
PGHLTLDLQSQKQDRHGEAGILNPIMEREEKFVTDEELHVVKQEVEKLEDEWEREELDKK
QKEKASLLEREEKPEWETGRYQLGMYPIQNMDKLQGEEEERLKREMLLAKLNEIDRELQD
SRNLKYPVLPLLPDFESKLHSPERSPKTYRFSESSERLFNGHHLQDISFSTPKGEGQNSG
NVRSPASPNEFAFGSYVPSFAKTSERSNPFSQKSSFLDFQRNSMEKLSKDGVDLITRKEK
KANLMEQLFGASGSSTISSKSSDPNSVASSKGDIDPLNFLPGNKGSRDQEHDEDEGFFLS
EGRSFNPNRHRLKHADDKPAVKAADSVEDEIEEVALR

Sequence length

697

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Leber Congenital Amaurosis	leber congenital amaurosis 5, Leber congenital amaurosis 1, leber congenital amaurosis	rs183261547, rs1178243254, rs1057519136, rs1248460033, rs766143193, rs1182277140, rs386834252, rs1769845495, rs866395428, rs765473119, rs386834253, rs1268307330, rs1286660951, rs121918165, rs781035395 View all (4 more)	N/A
retinal dystrophy	Retinal dystrophy	rs748370008, rs1769692830, rs866395428, rs1769707298, rs386834252, rs121918165, rs746351112, rs878853382	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs1286660951	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
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.
Glioblastoma	Glioblastoma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Amaurosis congenita of Leber type 5	Associate	27067258
Atrophy	Associate	12642313
Cataract	Associate	21850168
Colorectal Neoplasms	Associate	30537927
Cone Dystrophy	Associate	27067258
Death	Associate	18334959
Eye Abnormalities	Associate	12642313
Hereditary macular coloboma	Associate	12642313
Hyperopia	Associate	19503738
Leber Congenital Amaurosis	Associate	12642313, 18334959, 18936139, 19503738, 21602930, 21850168, 23946133, 36369640, 39728598
Nystagmus Pathologic	Associate	19503738
Retinal Degeneration	Associate	26352687
Retinal Dystrophies	Associate	23946133
Retinitis Pigmentosa	Associate	23946133
Vitreoretinochoroidopathy	Associate	12642313

LCA5 (lebercilin LCA5)