Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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143872 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Rho GTPase activating protein 42 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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ARHGAP42 |
SynonymsGene synonyms aliases
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AD031, GRAF3, TMEM133 |
ChromosomeChromosome number
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11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11q22.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to regulate vascular tone and control blood pressure. A mutation in the first intron of this gene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017] |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0003085 |
Process |
Negative regulation of systemic arterial blood pressure |
IEA |
|
GO:0005096 |
Function |
GTPase activator activity |
IBA |
21873635 |
GO:0005096 |
Function |
GTPase activator activity |
IDA |
24335996 |
GO:0005575 |
Component |
Cellular_component |
ND |
|
GO:0007165 |
Process |
Signal transduction |
IEA |
|
GO:0035024 |
Process |
Negative regulation of Rho protein signal transduction |
IEA |
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GO:0090630 |
Process |
Activation of GTPase activity |
IDA |
24335996 |
GO:1904694 |
Process |
Negative regulation of vascular associated smooth muscle contraction |
IEA |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
A6NI28 |
Protein name |
Rho GTPase-activating protein 42 (Rho GTPase-activating protein 10-like) (Rho-type GTPase-activating protein 42) |
Protein function |
May influence blood pressure by functioning as a GTPase-activating protein for RHOA in vascular smooth muscle. |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF16746 |
BAR_3 |
6 → 249 |
|
Domain |
PF00169 |
PH |
266 → 371 |
PH domain |
Domain |
PF00620 |
RhoGAP |
396 → 549 |
RhoGAP domain |
Domain |
PF14604 |
SH3_9 |
823 → 872 |
Variant SH3 domain |
Domain |
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Sequence |
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Sequence length |
874 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
30104761, 29212778 |
Hypertension |
Hypertensive disease |
rs13306026 |
21909115, 30487518 |
Chronic obstructive pulmonary disease |
Chronic Obstructive Airway Disease |
rs-1 |
30940143 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Cardiovascular diseases |
Cardiovascular Diseases |
|
30595370 |
|