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Gene

ARL2BP

ARF like GTPase 2 binding protein

Summary

Cytogenetic location
16q13
Coordinates
Chromosome 16: 57,245,259–57,253,635 (GRCh38)
Exons
6 exons across 8.4 kb
Protein
163 amino acids
Also known as
BART1, BART
Previous symbols
RP66
MANE Select transcript
ENST00000219204.8NM_012106.4
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

    • Retinitis Pigmentosa

      • One of 77 genes linked to it

        A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

        • 3 GenCC submitters rate it definitive or strong

    How ARL2BP is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 16, with a bracket where ARL2BP sits. ARL2BP and 22 genes near it on chromosome 16, from 56,749,447 to 57,749,446.Chromosome 1616q13p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.356.8 Mb57 Mb57.2 Mb57.4 Mb57.6 MbNUP93: 56,730,095–56,850,286, forward strandNUP93SLC12A3: 56,865,203–56,915,850, forward strandSLC12A3HERPUD1: 56,930,815–56,946,491, forward strandHERPUD1CETP: 56,961,922–56,983,845, forward strandCETPNLRC5: 56,989,485–57,084,238, forward strandNLRC5CPNE2: 57,092,517–57,148,369, forward strandCPNE2PSME3IP1: 57,152,466–57,186,175, reverse strandPSME3IP1RSPRY1: 57,186,137–57,242,505, forward strandRSPRY1ARL2BP: 57,245,259–57,253,635, forward strandARL2BPPLLP: 57,248,547–57,284,683, reverse strandPLLPCCL22: 57,357,925–57,366,191, forward strandCCL22CX3CL1: 57,372,457–57,385,044, forward strandCX3CL1CCL17: 57,404,767–57,416,063, forward strandCCL17CIAPIN1: 57,428,169–57,447,420, reverse strandCIAPIN1COQ9: 57,447,425–57,461,275, forward strandCOQ9POLR2C: 57,462,648–57,472,010, forward strandPOLR2CDOK4: 57,471,917–57,487,382, reverse strandDOK4CCDC102A: 57,511,805–57,537,163, reverse strandCCDC102AADGRG5: 57,528,585–57,591,681, forward strandADGRG5ADGRG1: 57,610,652–57,665,580, forward strandADGRG1ADGRG3: 57,668,106–57,689,378, forward strandADGRG3DRC7: 57,694,790–57,731,805, forward strandDRC7KATNB1: 57,735,669–57,758,271, forward strandKATNB1Diagram of ARL2BP: 6 exons on the forward strand of chromosome 16Exon 1: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 1: 57,245,259–57,245,405, 147 basesExon 2: 57,246,080–57,246,141, 62 basesExon 3: 57,248,537–57,248,643, 107 basesExon 4: 57,249,767–57,249,852, 86 basesExon 5: 57,250,411–57,250,507, 97 basesExon 6: 57,252,166–57,253,635, 1,470 bases1234565′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 2 kb of the gene's 8.4 kb; 492 of those bases code for the protein.

    How a genome test reads ARL2BP

    5

    positions in ARL2BP 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 8.4 kb of ARL2BP, introns included, not only the 2 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.). ARL2BP gene: ARF like GTPase 2 binding protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/arl2bp

    Vancouver

    Dante Labs. ARL2BP gene: ARF like GTPase 2 binding protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/arl2bp

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