GenTIGSA Gene Database on Rare Genetic Disorders

ADP ribosylation factor like GTPase 13B (ARL13B) Associated conditions:  1. Joubert syndrome 
mRNA Information: Transcript Variants and Protein Isoforms
SNo. Status mRNA accession Protein accession Genomic DNA accession (Chromosome) mRNA location on genomic DNA Assembly UniProtkb ID
1 REVIEWED NM_001174150.2 NP_001167621.1 NC_000003.12 (93980154..94055677) Reference GRCh38.p14 Primary Assembly -
2 REVIEWED NM_001174151.2 NP_001167622.1 NC_000003.12 (93980154..94055677) Reference GRCh38.p14 Primary Assembly -
3 REVIEWED NM_001321328.2 NP_001308257.1 NC_000003.12 (93980154..94055677) Reference GRCh38.p14 Primary Assembly -
4 REVIEWED NM_001410782.1 NP_001397711.1 NC_000003.12 (93980154..94055677) Reference GRCh38.p14 Primary Assembly -
5 REVIEWED NM_001437443.1 NP_001424372.1 NC_000003.12 (93980154..94055677) Reference GRCh38.p14 Primary Assembly -
6 REVIEWED NM_144996.4 NP_659433.2 NC_000003.12 (93980154..94055677) Reference GRCh38.p14 Primary Assembly -
7 REVIEWED NM_182896.3 NP_878899.1 NC_000003.12 (93980154..94055677) Reference GRCh38.p14 Primary Assembly -
8 REVIEWED NR_033427.2 - NC_000003.12 (93980154..94055677) Reference GRCh38.p14 Primary Assembly -
9 REVIEWED NR_135621.2 - NC_000003.12 (93980154..94055677) Reference GRCh38.p14 Primary Assembly -

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)
Link 173 reference articles

Variant Information ADP ribosylation factor like GTPase 13B (ARL13B) Mutation Visualization Dashboard: Pathogenic variant distribution chart

 

IndiGenomes variants: Exploring and mapping pathogenic variants in gene ADP ribosylation factor like GTPase 13B (ARL13B)
ClinVar variants:Revealing mutagenic patterns

GO Term of ADP ribosylation factor like GTPase 13B (ARL13B)
SNo. Reported in speceis Evidence Qualifier GO term Category Pubmed Link
1Homo sapiensIEAenablesnucleotide bindingFunction- 
2Homo sapiensIEAinvolved_inkidney developmentProcess- 
3Homo sapiensIEAenablesGTPase activityFunction- 
4Homo sapiensIPIenablesprotein bindingFunction20643351 32296183 32541000 
40355756 
5Homo sapiensIEAenablesGTP bindingFunction- 
6Homo sapiensTASlocated_incytosolComponent- 
7Homo sapiensIEAlocated_incytoskeletonComponent- 
8Homo sapiensIEAlocated_inplasma membraneComponent- 
9Homo sapiensIDAlocated_inciliumComponent24421332 27623382 
10Homo sapiensIEAlocated_inciliumComponent- 
11Homo sapiensISSlocated_inciliumComponent- 
12Homo sapiensTASlocated_inciliumComponent- 
13Homo sapiensIEAlocated_inaxonemeComponent- 
14Homo sapiensIEAinvolved_insmoothened signaling pathwayProcess- 
15Homo sapiensISSinvolved_insmoothened signaling pathwayProcess- 
16Homo sapiensIDAlocated_inmicrotubule cytoskeletonComponent- 
17Homo sapiensIEAinvolved_inneural tube patterningProcess- 
18Homo sapiensISSinvolved_inneural tube patterningProcess- 
19Homo sapiensIEAinvolved_ininterneuron migration from the subpallium to the cortexProcess- 
20Homo sapiensISSinvolved_ininterneuron migration from the subpallium to the cortexProcess- 
21Homo sapiensIEAinvolved_information of radial glial scaffoldsProcess- 
22Homo sapiensISSinvolved_information of radial glial scaffoldsProcess- 
23Homo sapiensIEAenablesGTP-dependent protein bindingFunction- 
24Homo sapiensIBAis_active_inmotile ciliumComponent- 
25Homo sapiensIEAlocated_inmotile ciliumComponent- 
26Homo sapiensIDAlocated_inciliary transition zoneComponent- 
27Homo sapiensIDAlocated_inintercellular bridgeComponent- 
28Homo sapiensIBAis_active_inciliary membraneComponent- 
29Homo sapiensIEAlocated_inciliary membraneComponent- 
30Homo sapiensISSlocated_inciliary membraneComponent- 
31Homo sapiensIEAinvolved_incilium assemblyProcess- 
32Homo sapiensISSinvolved_incilium assemblyProcess- 
33Homo sapiensIBAinvolved_inreceptor localization to non-motile ciliumProcess- 
34Homo sapiensIBAis_active_innon-motile ciliumComponent- 
35Homo sapiensEXPis_active_in9+0 non-motile ciliumComponent26582389 
36Homo sapiensIEAis_active_in9+0 non-motile ciliumComponent- 
37Homo sapiensIBAinvolved_innon-motile cilium assemblyProcess- 
38Homo sapiensIEAinvolved_innon-motile cilium assemblyProcess- 
39Homo sapiensISSinvolved_innon-motile cilium assemblyProcess-