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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	200894
Gene name Gene Name - the full gene name approved by the HGNC.	ARF like GTPase 13B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ARL13B
Synonyms (NCBI Gene) Gene synonyms aliases	ARL2L1, JBTS8
Disease Acronyms (UniProt) Disease acronyms from UniProt database	JBTS8
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q11.1-q11.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia f

Show/Hide all(11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912606	G>A	Pathogenic	5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs121912607	G>A	Pathogenic	5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs121912608	C>A,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs139997243	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs373604132	G>C,T	Pathogenic	Intron variant, splice acceptor variant
rs758972393	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs764109067	G>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs786205563	T>A,C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant
rs863225149	T>G	Pathogenic	Intron variant, non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs863225430	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs1560002959	ACAA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant

Show/Hide all(133)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020451	hsa-miR-106b-5p	Microarray	17242205
MIRT021785	hsa-miR-132-3p	Microarray	17612493
MIRT308605	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT549787	hsa-miR-5000-5p	PAR-CLIP	21572407
MIRT308604	hsa-miR-1266-3p	PAR-CLIP	21572407
MIRT549786	hsa-miR-1206	PAR-CLIP	21572407
MIRT549784	hsa-miR-8068	PAR-CLIP	21572407
MIRT549785	hsa-miR-6516-3p	PAR-CLIP	21572407
MIRT549783	hsa-miR-568	PAR-CLIP	21572407
MIRT549782	hsa-miR-3149	PAR-CLIP	21572407
MIRT525887	hsa-miR-548a-5p	PAR-CLIP	22012620
MIRT525886	hsa-miR-548ab	PAR-CLIP	22012620
MIRT525885	hsa-miR-548ad-5p	PAR-CLIP	22012620
MIRT525884	hsa-miR-548ae-5p	PAR-CLIP	22012620
MIRT525883	hsa-miR-548ak	PAR-CLIP	22012620
MIRT525882	hsa-miR-548am-5p	PAR-CLIP	22012620
MIRT525881	hsa-miR-548ap-5p	PAR-CLIP	22012620
MIRT525880	hsa-miR-548aq-5p	PAR-CLIP	22012620
MIRT525879	hsa-miR-548ar-5p	PAR-CLIP	22012620
MIRT525878	hsa-miR-548as-5p	PAR-CLIP	22012620
MIRT525877	hsa-miR-548au-5p	PAR-CLIP	22012620
MIRT525876	hsa-miR-548ay-5p	PAR-CLIP	22012620
MIRT525875	hsa-miR-548b-5p	PAR-CLIP	22012620
MIRT525874	hsa-miR-548bb-5p	PAR-CLIP	22012620
MIRT525873	hsa-miR-548c-5p	PAR-CLIP	22012620
MIRT525872	hsa-miR-548d-5p	PAR-CLIP	22012620
MIRT525871	hsa-miR-548h-5p	PAR-CLIP	22012620
MIRT525870	hsa-miR-548i	PAR-CLIP	22012620
MIRT525869	hsa-miR-548j-5p	PAR-CLIP	22012620
MIRT525868	hsa-miR-548o-5p	PAR-CLIP	22012620
MIRT525867	hsa-miR-548w	PAR-CLIP	22012620
MIRT525866	hsa-miR-548y	PAR-CLIP	22012620
MIRT525865	hsa-miR-559	PAR-CLIP	22012620
MIRT525864	hsa-miR-548av-5p	PAR-CLIP	22012620
MIRT525863	hsa-miR-548k	PAR-CLIP	22012620
MIRT525862	hsa-miR-8054	PAR-CLIP	22012620
MIRT525861	hsa-miR-5692a	PAR-CLIP	22012620
MIRT355773	hsa-miR-944	PAR-CLIP	22012620
MIRT525860	hsa-miR-7849-3p	PAR-CLIP	22012620
MIRT525859	hsa-miR-4502	PAR-CLIP	22012620
MIRT525858	hsa-miR-548ao-5p	PAR-CLIP	22012620
MIRT525857	hsa-miR-548ax	PAR-CLIP	22012620
MIRT525856	hsa-miR-5585-5p	PAR-CLIP	22012620
MIRT308605	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT549787	hsa-miR-5000-5p	PAR-CLIP	21572407
MIRT308604	hsa-miR-1266-3p	PAR-CLIP	21572407
MIRT549786	hsa-miR-1206	PAR-CLIP	21572407
MIRT549784	hsa-miR-8068	PAR-CLIP	21572407
MIRT549785	hsa-miR-6516-3p	PAR-CLIP	21572407
MIRT549783	hsa-miR-568	PAR-CLIP	21572407
MIRT549782	hsa-miR-3149	PAR-CLIP	21572407
MIRT525887	hsa-miR-548a-5p	PAR-CLIP	22012620
MIRT525886	hsa-miR-548ab	PAR-CLIP	22012620
MIRT525885	hsa-miR-548ad-5p	PAR-CLIP	22012620
MIRT525884	hsa-miR-548ae-5p	PAR-CLIP	22012620
MIRT525883	hsa-miR-548ak	PAR-CLIP	22012620
MIRT525882	hsa-miR-548am-5p	PAR-CLIP	22012620
MIRT525881	hsa-miR-548ap-5p	PAR-CLIP	22012620
MIRT525880	hsa-miR-548aq-5p	PAR-CLIP	22012620
MIRT525879	hsa-miR-548ar-5p	PAR-CLIP	22012620
MIRT525878	hsa-miR-548as-5p	PAR-CLIP	22012620
MIRT525877	hsa-miR-548au-5p	PAR-CLIP	22012620
MIRT525876	hsa-miR-548ay-5p	PAR-CLIP	22012620
MIRT525875	hsa-miR-548b-5p	PAR-CLIP	22012620
MIRT525874	hsa-miR-548bb-5p	PAR-CLIP	22012620
MIRT525873	hsa-miR-548c-5p	PAR-CLIP	22012620
MIRT525872	hsa-miR-548d-5p	PAR-CLIP	22012620
MIRT525871	hsa-miR-548h-5p	PAR-CLIP	22012620
MIRT525870	hsa-miR-548i	PAR-CLIP	22012620
MIRT525869	hsa-miR-548j-5p	PAR-CLIP	22012620
MIRT525868	hsa-miR-548o-5p	PAR-CLIP	22012620
MIRT525867	hsa-miR-548w	PAR-CLIP	22012620
MIRT525866	hsa-miR-548y	PAR-CLIP	22012620
MIRT525865	hsa-miR-559	PAR-CLIP	22012620
MIRT525864	hsa-miR-548av-5p	PAR-CLIP	22012620
MIRT525863	hsa-miR-548k	PAR-CLIP	22012620
MIRT525862	hsa-miR-8054	PAR-CLIP	22012620
MIRT525861	hsa-miR-5692a	PAR-CLIP	22012620
MIRT355773	hsa-miR-944	PAR-CLIP	22012620
MIRT525860	hsa-miR-7849-3p	PAR-CLIP	22012620
MIRT525859	hsa-miR-4502	PAR-CLIP	22012620
MIRT525858	hsa-miR-548ao-5p	PAR-CLIP	22012620
MIRT525857	hsa-miR-548ax	PAR-CLIP	22012620
MIRT525856	hsa-miR-5585-5p	PAR-CLIP	22012620
MIRT797521	hsa-miR-125a-3p	CLIP-seq
MIRT797522	hsa-miR-150	CLIP-seq
MIRT797523	hsa-miR-223	CLIP-seq
MIRT797524	hsa-miR-29a	CLIP-seq
MIRT797525	hsa-miR-29b	CLIP-seq
MIRT797526	hsa-miR-29c	CLIP-seq
MIRT797527	hsa-miR-3163	CLIP-seq
MIRT797528	hsa-miR-3661	CLIP-seq
MIRT797529	hsa-miR-3920	CLIP-seq
MIRT797530	hsa-miR-4697-3p	CLIP-seq
MIRT797531	hsa-miR-4761-5p	CLIP-seq
MIRT797532	hsa-miR-4799-5p	CLIP-seq
MIRT797533	hsa-miR-548ac	CLIP-seq
MIRT797534	hsa-miR-548ae	CLIP-seq
MIRT797535	hsa-miR-548aj	CLIP-seq
MIRT797536	hsa-miR-548am	CLIP-seq
MIRT797537	hsa-miR-548c-3p	CLIP-seq
MIRT797538	hsa-miR-548d-3p	CLIP-seq
MIRT797539	hsa-miR-548h	CLIP-seq
MIRT797540	hsa-miR-548j	CLIP-seq
MIRT797541	hsa-miR-548l	CLIP-seq
MIRT797542	hsa-miR-548x	CLIP-seq
MIRT797543	hsa-miR-548z	CLIP-seq
MIRT797544	hsa-miR-552	CLIP-seq
MIRT797545	hsa-miR-577	CLIP-seq
MIRT797546	hsa-miR-592	CLIP-seq
MIRT797547	hsa-miR-597	CLIP-seq
MIRT797548	hsa-miR-624	CLIP-seq
MIRT797549	hsa-miR-631	CLIP-seq
MIRT797550	hsa-miR-656	CLIP-seq
MIRT1935536	hsa-miR-3180-5p	CLIP-seq
MIRT2384472	hsa-miR-1278	CLIP-seq
MIRT2384473	hsa-miR-1305	CLIP-seq
MIRT2384474	hsa-miR-1911	CLIP-seq
MIRT2384475	hsa-miR-452	CLIP-seq
MIRT2384476	hsa-miR-4676-3p	CLIP-seq
MIRT2384477	hsa-miR-607	CLIP-seq
MIRT2478861	hsa-miR-1290	CLIP-seq
MIRT2478862	hsa-miR-3167	CLIP-seq
MIRT2478863	hsa-miR-3662	CLIP-seq
MIRT2478864	hsa-miR-520d-5p	CLIP-seq
MIRT2478865	hsa-miR-524-5p	CLIP-seq
MIRT2478866	hsa-miR-876-5p	CLIP-seq
MIRT2478861	hsa-miR-1290	CLIP-seq
MIRT2478862	hsa-miR-3167	CLIP-seq
MIRT2478863	hsa-miR-3662	CLIP-seq
MIRT2478864	hsa-miR-520d-5p	CLIP-seq
MIRT2478865	hsa-miR-524-5p	CLIP-seq
MIRT2478866	hsa-miR-876-5p	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20643351, 32296183
GO:0005525	Function	GTP binding	IEA
GO:0005929	Component	Cilium	IDA	24421332, 27623382
GO:0005929	Component	Cilium	ISS
GO:0005929	Component	Cilium	TAS
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0021532	Process	Neural tube patterning	ISS
GO:0021830	Process	Interneuron migration from the subpallium to the cortex	ISS
GO:0021943	Process	Formation of radial glial scaffolds	ISS
GO:0031514	Component	Motile cilium	IBA	21873635
GO:0060170	Component	Ciliary membrane	IBA	21873635
GO:0060170	Component	Ciliary membrane	ISS
GO:0060271	Process	Cilium assembly	ISS
GO:0097500	Process	Receptor localization to non-motile cilium	IBA	21873635
GO:0097730	Component	Non-motile cilium	IBA	21873635
GO:1905515	Process	Non-motile cilium assembly	IBA	21873635
GO:1905515	Process	Non-motile cilium assembly	ISS

MIM	HGNC	e!Ensembl
608922	25419	ENSG00000169379

Protein

UniProt ID

Q3SXY8

Protein name

ADP-ribosylation factor-like protein 13B (ADP-ribosylation factor-like protein 2-like 1) (ARL2-like protein 1)

Protein function

Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze fit; the GTPase activity remains unclea

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00025	Arf	9 → 190	ADP-ribosylation factor family	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the developing brain. {ECO:0000269|PubMed:25138100}.

Sequence

MFSLMASCCGWFKRWREPVRKVTLLMVGLDNAGKTATAKGIQGEYPEDVAPTVGFSKINL
RQGKFEVTIFDLGGGIRIRGIWKNYYAESYGVIFVVDSSDEERMEETKEAMSEMLRHPRI
SGKPILVLANKQDKEGALGEADVIECLSLEKLVNEHKCLCQIEPCSAISGYGKKIDKSIK
KGLYWLLHVIARDFDALNERIQKETTEQRALEEQEKQERAERVRKLREERKQNEQEQAEL
DGTSGLAELDPEPTNPFQPIASVIIENEGKLEREKKNQKMEKDSDGCHLKHKMEHEQIET
QGQVNHNGQKNNEFGLVENYKEALTQQLKNEDETDRPSLESANGKKKTKKLRMKRNHRVE
PLNIDDCAPESPTPPPPPPPVGWGTPKVTRLPKLEPLGETHHNDFYRKPLPPLAVPQRPN
SDAHDVIS

Sequence length

428

Interactions

View interactions

	Reactome
			ARL13B-mediated ciliary trafficking of INPP5E Aggrephagy

Show/Hide Causal Diseases (15)

Disease term	Disease name	dbSNP ID	References
Causal
Cerebellar vermis agenesis	Familial aplasia of the vermis	rs201108965, rs13297509, rs121918129, rs121918130, rs121918197, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs121434348, rs121434349, rs267606641, rs201391050, rs387907003 View all (121 more)	18674751
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Diastrophic dysplasia	Diastrophic dysplasia	rs386833498, rs786200881, rs104893915, rs104893919, rs104893920, rs104893916, rs104893921, rs386833492, rs104893924, rs121908078, rs386833493, rs386833494, rs386833495, rs386833496, rs386833497 View all (32 more)
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323 View all (4 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Joubert syndrome	JOUBERT SYNDROME 8 (disorder), Joubert syndrome 1, Joubert syndrome	rs201108965, rs13297509, rs121918128, rs121918129, rs121918130, rs2109050324, rs118204052, rs118204053, rs121918197, rs121918198, rs121918199, rs121918200, rs121918204, rs387906243, rs145665129 View all (432 more)	29255182, 25138100, 26092869, 18674751, 16541367
Keratosis follicularis	Keratosis Follicularis	rs28929478, rs121912731, rs1592839705, rs121912732, rs121912734, rs2137673961, rs1566240208, rs121912738, rs1592864859
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	16541367
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Retinal dystrophy	Retinal Dystrophies	rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803 View all (2328 more)
Retinitis pigmentosa	Retinitis Pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114 View all (1830 more)
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Situs inversus	Situs inversus totalis	rs528302390, rs1596264554

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Ptosis	Blepharoptosis, Ptosis			ClinVar

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining
Agenesis of Cerebellar Vermis	Associate	18950740, 37910852
Alkaptonuria	Associate	28158906
Carcinogenesis	Associate	37830570
Central Nervous System Cysts	Associate	27562488
Ciliary Motility Disorders	Associate	35488810
Ciliopathies	Associate	21068128
Genetic Diseases Inborn	Associate	31759544
Glioblastoma	Associate	37830570
Glioma	Associate	37830570

ARL13B (ARF like GTPase 13B)