ADP Ribosylation Factor-Like 2-Binding Protein

Alternative Names

  • ARL2BP
  • ARL2-Binding Protein
  • Binder of ARL2
  • BART
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OMIM Number

615407

NCBI Gene ID

23568

Uniprot ID

Q9Y2Y0

Length

8,510 bases

No. of Exons

6

No. of isoforms

2

Protein Name

ADP Ribosylation Factor-Like 2-Binding Protein

Molecular Mass

18822 Da

Amino Acid Count

163

Genomic Location

chr16:57,245,126-57,253,635

Gene Map Locus
16q13

Description

The ARL2BP gene encodes a protein with GTPase regulator activity. Along with ARL2, the protein acts as a transcriptional co-activator of STAT3. Homozygous mutations in the gene have been linked to Retinitis Pigmentosa 82 with or without Situs Inversus. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_012106.3:c.207+1G>TMorocco16: 57248644PathogenicPathogenicRetinitis Pigmentosa 82 with or without Situs Inversus NG_033905.1:g.8519G>T; NM_012106.3:c.207+1G>T199830550559501
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