ARL13B - ADP ribosylation factor like GTPase 13B Gene
Also Known as JBTS8; ARL2L1
Species: Homo sapiens
About ARL13B
This gene has 27 transcripts (splice variants), 209 orthologues, 30 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 5.4), lung (RPKM 4.2) and 25 other tissues.
Summary
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 formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
ARL13B Products (6)
| mRNA | Protein | Name |
|---|---|---|
| NM_001174150.2 | NP_001167621.1 | ADP-ribosylation factor-like protein 13B isoform 1 |
| NM_001174151.2 | NP_001167622.1 | ADP-ribosylation factor-like protein 13B isoform 3 |
| NM_001321328.2 | NP_001308257.1 | ADP-ribosylation factor-like protein 13B isoform 4 |
| NM_001410782.1 | NP_001397711.1 | ADP-ribosylation factor-like protein 13B isoform 5 |
| NM_144996.4 | NP_659433.2 | ADP-ribosylation factor-like protein 13B isoform 2 |
| NM_182896.3 | NP_878899.1 | ADP-ribosylation factor-like protein 13B isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
20643351 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cilium |
IDA
IDA: Inferred from direct assay
|
24421332 | GOA |
ARL13B Protein Structure
Arf: ADP-ribosylation factor family (19 - 173)
- 0
- 100
- 200
- 300
- 400
- 428 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ADP-ribosylation factor-like protein 13B |
|
ARL13B Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ARL13B | Q3SXY8 | COL8A2 | Homo sapiens | Q4VAQ0 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | RTP2 | Homo sapiens | Q5QGT7 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | NRM | Homo sapiens | Q8IXM6 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | JAGN1 | Homo sapiens | Q8N5M9 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | CSGALNACT2 | Homo sapiens | Q8N6G5 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | CCL4L1 | Homo sapiens | Q8NHW4 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TMEM190 | Homo sapiens | Q8WZ59 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | SLC38A7 | Homo sapiens | Q9NVC3 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | NINJ2 | Homo sapiens | Q9NZG7 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TEX264 | Homo sapiens | Q9Y6I9 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | B4GALNT2 | Homo sapiens | Q8NHY0 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | PLPP4 | Homo sapiens | Q5VZY2 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | ORMDL1 | Homo sapiens | Q9P0S3 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TMEM128 | Homo sapiens | Q5BJH2-2 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | CFHR5 | Homo sapiens | Q9BXR6 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TMEM254 | Homo sapiens | Q8TBM7 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | AIG1 | Homo sapiens | Q9NVV5-2 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | CLEC7A | Homo sapiens | Q9BXN2-6 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | GIMAP1 | Homo sapiens | Q8WWP7 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TNMD | Homo sapiens | Q9H2S6-2 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | C4orf3 | Homo sapiens | Q8WVX3-2 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | LPAR3 | Homo sapiens | Q9UBY5 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | PGAP2 | Homo sapiens | Q9UHJ9-5 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | ANKRD46 | Homo sapiens | Q86W74-2 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TMEM97 | Homo sapiens | Q5BJF2 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | FAXDC2 | Homo sapiens | Q96IV6 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TMEM121 | Homo sapiens | Q9BTD3 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | VSTM1 | Homo sapiens | Q6UX27-3 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TMEM229B | Homo sapiens | Q8NBD8 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TSPO2 | Homo sapiens | Q5TGU0 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | BRICD5 | Homo sapiens | Q6PL45-2 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | BRICD5 | Homo sapiens | Q6PL45-2 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | AQP10 | Homo sapiens | Q96PS8 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | ZDHHC15 | Homo sapiens | Q96MV8 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | SLC39A2 | Homo sapiens | Q9NP94 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | SEMA4G | Homo sapiens | Q9NTN9-2 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | SLC13A3 | Homo sapiens | Q8WWT9 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | PLPPR2 | Homo sapiens | Q96GM1 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TM6SF2 | Homo sapiens | Q9BZW4 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | PPGB | Homo sapiens | Q59EV6 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | CD302 | Homo sapiens | Q8IX05 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | CLEC4G | Homo sapiens | Q6UXB4 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TMEM14C | Homo sapiens | Q9P0S9 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TMEM86B | Homo sapiens | Q8N661 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | CMTM7 | Homo sapiens | Q96FZ5 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TMUB2 | Homo sapiens | Q71RG4 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | ALG3 | Homo sapiens | Q92685 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | NAT8 | Homo sapiens | Q9UHE5 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | ACSF2 | Homo sapiens | Q96CM8 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TECR | Homo sapiens | Q9NZ01 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | THSD7A | Homo sapiens | Q9UPZ6 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | SACM1L | Homo sapiens | Q9NTJ5 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TMEM54 | Homo sapiens | Q969K7 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | CLN6 | Homo sapiens | Q9NWW5 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | GIMAP5 | Homo sapiens | Q96F15 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TMEM65 | Homo sapiens | Q6PI78 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | FXYD6 | Homo sapiens | Q9H0Q3 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | FUNDC2 | Homo sapiens | Q9BWH2 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TMEM43 | Homo sapiens | Q9BTV4 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | ORMDL3 | Homo sapiens | Q8N138 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | CMTM3 | Homo sapiens | Q96MX0 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | HOMER3 | Homo sapiens | Q9NSC5 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | KLRG1 | Homo sapiens | Q96E93 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | YIPF6 | Homo sapiens | Q96EC8 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | TMEM79 | Homo sapiens | Q9BSE2 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | MUCL1 | Homo sapiens | Q96DR8 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | CCDC167 | Homo sapiens | Q9P0B6 | 32296183 | |
|
Intra
|
ARL13B | Q3SXY8 | MAL2 | Homo sapiens | Q969L2 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Joubert Syndrome 8 |
|
|
| Joubert Syndrome 1 |
|
|
| Alkaptonuria |
|
|
| Bardet-Biedl Syndrome |
|
|
| Joubert Syndrome 22 |
|
|
| Meckel Syndrome, Type 1 |
|
|
| Endocrine-Cerebroosteodysplasia |
|
|
| Retinitis Pigmentosa 2 |
|
|
| Joubert Syndrome 21 |
|
|
| Nephronophthisis |
|
|
| Joubert Syndrome 5 |
|
|
| Joubert Syndrome 2 |
|
|
| Joubert Syndrome 10 |
|
|
| Oculomotor Apraxia |
|
|
| Apraxia |
|
|
| Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
|
| Coach Syndrome 1 |
|
|
| Joubert Syndrome 3 |
|
|
| Carpenter Syndrome 1 |
|
|
| Joubert Syndrome 26 |
|
|
| Joubert Syndrome 24 |
|
|
| Nephronophthisis 11 |
|
|
| Nephronophthisis 7 |
|
|
| Spinocerebellar Ataxia 11 |
|
|
| Orofaciodigital Syndrome Vi |
|
|
| Senior-Loken Syndrome 1 |
|
|
| Asphyxiating Thoracic Dystrophy |
|
|
| Cranioectodermal Dysplasia |
|
|
| Cystic Kidney Disease |
|
|
| Ellis-Van Creveld Syndrome |
|
|
| Visceral Heterotaxy |
|
|
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
|
| Coloboma Of Macula |
|
|
| Medulloblastoma |
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
|
| Situs Inversus |
|
|
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
|
| Polycystic Kidney Disease |
|
|
| Primary Ciliary Dyskinesia |
|
|
| Leber Plus Disease |
|
|
| Fundus Dystrophy |
|
|
| Congenital Nervous System Abnormality |
|
|
| Cone-Rod Dystrophy 2 |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | ARL13B | VGNC | VGNC:69905 |
| Canis familiaris | ARL13B | VGNC | VGNC:38106 |
| Felis catus | ARL13B | VGNC | VGNC:59920 |
| Bos taurus | ARL13B | VGNC | VGNC:26138 |
| Rattus norvegicus | ARL13B | RGD | RGD:1584979 |
| Mus musculus | ARL13B | MGD | MGI:1915396 |
| Others | ARL13B | NCBI |