GTPBP2

Chr 6

GTP binding protein 2

Also known as: JABELS

NCBI Gene: 54676 ENSG00000172432 UniProt: Q9BX10

GTPBP2 encodes a GTP-binding protein that binds GTP/GDP and is activated by GTP binding and inactivated by hydrolyzing GTP to GDP. Autosomal recessive mutations cause Jaberi-Elahi syndrome. The mechanism of pathogenicity is not established from the available data.

ResearchSummary from RefSeq, OMIM

GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biologic activities.[supplied by OMIM, Jan 2003]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtJaberi-Elahi syndrome

Clinical highlights

Gene-disease validity (ClinGen)

Jaberi-Elahi syndrome · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.43

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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