PLEKHG2 pleckstrin homology and RhoGEF domain containing G2
Information
- Symbol
- PLEKHG2
- Type
- protein-coding
- Description
- pleckstrin homology and RhoGEF domain containing G2
- Entrez Gene ID
- 64857
- Genome
- hg19
- Position
- chr19:39,903,309-39,919,055
- Genome
- hg38
- Position
- chr19:39,412,669-39,428,415
- MIM
- 611893 OMIM
- HGNC
- HGNC:29515 HGNC
- Ensembl
- ENSG00000090924 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Likely pathogenic | 0 | 4 |
| Benign | 0 | 90 |
| Likely benign | 0 | 324 |
| Conflicting classifications of pathogenicity | 0 | 12 |
| Uncertain significance | 0 | 478 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
140 |
 |
734 |
 |
8 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | ARHGEF42 |
| SYNONYM | CLG |
| SYNONYM | CTB-60E11.4 |
| SYNONYM | LDAMD |
| MIM | 611893 OMIM |
| HGNC | HGNC:29515 HGNC |
| Ensembl | ENSG00000090924 Ensembl |
| AllianceGenome | HGNC:29515 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000425673.6 | hg38 | chr19 | 39,412,669 | 39,428,415 | 15,747 |
| ENST00000458508.6 | hg38 | chr19 | 39,413,309 | 39,425,437 | 12,129 |
| ENST00000409797.6 | hg38 | chr19 | 39,413,665 | 39,425,516 | 11,852 |
| ENST00000425673.6 | hg19 | chr19 | 39,903,309 | 39,919,055 | 15,747 |
| ENST00000458508.6 | hg19 | chr19 | 39,903,949 | 39,916,077 | 12,129 |
| ENST00000409797.6 | hg19 | chr19 | 39,904,305 | 39,916,156 | 11,852 |
| Key | Value |
|---|---|
| strand | + |
| UniProt | TSG |
| start | 39,903,749 |
| Gene Symbol | PLEKHG2 |
| Entrez GeneId | 64,857 |
| Chr Band | 19q13.2 |
| end | 39,919,054 |
| chr | chr19 |
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