GTPBP2 Chromosome 6
GTP binding protein 2
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What This Gene Does
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]
Gene Info
Gene Group
Translational GTPases
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000172432
Associated Conditions (2)
See cases
Jaberi-Elahi syndrome
Key Variants
RS377499258
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS1768790302
Likely pathogenic
Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
Health Risk
RS2127838700
Likely pathogenic
Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
Health Risk
RS1007812513
Pathogenic
Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
Health Risk
RS1409184000
Pathogenic
Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
Health Risk
RS1554143424
Pathogenic
Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
Health Risk
RS1554143448
Pathogenic
Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
Health Risk
RS1554143844
Pathogenic
Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
Health Risk
RS2127840239
Pathogenic
Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
Health Risk
RS2532597676
Pathogenic
Health Risk
RS745610059
Pathogenic
Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
Health Risk
RS764897448
Pathogenic
Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS377499258 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS1768790302 | Health Risk | Likely pathogenic | Jaberi-Elahi syndrome, Jaberi-Elahi syndrome |
| RS2127838700 | Health Risk | Likely pathogenic | Jaberi-Elahi syndrome, Jaberi-Elahi syndrome |
| RS1007812513 | Health Risk | Pathogenic | Jaberi-Elahi syndrome, Jaberi-Elahi syndrome |
| RS1409184000 | Health Risk | Pathogenic | Jaberi-Elahi syndrome, Jaberi-Elahi syndrome |
| RS1554143424 | Health Risk | Pathogenic | Jaberi-Elahi syndrome, Jaberi-Elahi syndrome |
| RS1554143448 | Health Risk | Pathogenic | Jaberi-Elahi syndrome, Jaberi-Elahi syndrome |
| RS1554143844 | Health Risk | Pathogenic | Jaberi-Elahi syndrome, Jaberi-Elahi syndrome |
| RS2127840239 | Health Risk | Pathogenic | Jaberi-Elahi syndrome, Jaberi-Elahi syndrome |
| RS2532597676 | Health Risk | Pathogenic | — |
| RS745610059 | Health Risk | Pathogenic | Jaberi-Elahi syndrome, Jaberi-Elahi syndrome |
| RS764897448 | Health Risk | Pathogenic | Jaberi-Elahi syndrome, Jaberi-Elahi syndrome |
| RS1252019134 | Health Risk | Pathogenic/Likely pathogenic | Jaberi-Elahi syndrome, Jaberi-Elahi syndrome |