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Gene

ARL13B

ARF like GTPase 13B

Summary

Cytogenetic location
3q11.1-q11.2
Coordinates
Chromosome 3: 93,980,155–94,055,678 (GRCh38)
Exons
10 exons across 75.5 kb
Protein
428 amino acids
Also known as
DKFZp761H079, JBTS8
Previous symbols
ARL2L1
MANE Select transcript
ENST00000394222.8NM_001174150.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Joubert Syndrome And Related Disorders

    • Joubert Syndrome

      A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

How ARL13B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where ARL13B sits. ARL13B and 4 genes near it on chromosome 3, from 93,517,917 to 94,517,916.Chromosome 33q11.1-q11.2p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2993.6 Mb93.8 Mb94 Mb94.2 Mb94.4 MbPROS1: 93,873,038–93,980,003, reverse strandPROS1ARL13B: 93,980,155–94,055,678, forward strandARL13BDHFR2: 93,981,180–94,063,389, reverse strandDHFR2STX19: 94,012,043–94,028,658, reverse strandSTX19NSUN3: 94,062,980–94,131,832, forward strandNSUN3Diagram of ARL13B: 10 exons on the forward strand of chromosome 3Exon 1: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 3: 4 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 7: 8 known disease-causing sitesExon 8: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 1: 93,980,155–93,980,482, 328 basesExon 2: 93,995,874–93,995,944, 71 basesExon 3: 94,003,659–94,003,908, 250 basesExon 4: 94,035,331–94,035,436, 106 basesExon 5: 94,036,552–94,036,754, 203 basesExon 6: 94,039,880–94,039,988, 109 basesExon 7: 94,043,015–94,043,240, 226 basesExon 8: 94,049,406–94,049,522, 117 basesExon 9: 94,050,824–94,050,892, 69 basesExon 10: 94,053,187–94,055,678, 2,492 bases123456789105′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4 kb of the gene's 75.5 kb; 1,287 of those bases code for the protein.

How a genome test reads ARL13B

35

positions in ARL13B where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 75.5 kb of ARL13B, introns included, not only the 4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ARL13B gene: ARF like GTPase 13B. Retrieved 16 October 2026, from https://dantelabs.com/genes/arl13b

Vancouver

Dante Labs. ARL13B gene: ARF like GTPase 13B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/arl13b

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