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Gene id 387
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol RHOA   Gene   UCSC   Ensembl
Aliases ARH12, ARHA, RHO12, RHOH12
Gene name ras homolog family member A
Alternate names transforming protein RhoA, Aplysia ras-related homolog 12, epididymis secretory sperm binding protein, oncogene RHO H12, small GTP binding protein RhoA,
Gene location 3p21.31 (49411975: 49359144)     Exons: 7     NC_000003.12
Gene summary(Entrez) This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskel
OMIM 165390

SNPs
rs397515339

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000016.10   g.84170177dup
NC_000016.9   g.84203783dup
NG_021174.1   g.29919dup
NM_178452.6   c.1349dup
NM_178452.5   c.1349dup
NM_178452.4   c.1349dup
NM_001318756.1   c.641dup
XM_011522854.3   c.1397dup
XM_006721129.3   c.1349dup
XM_011522853.3   c.1397dup
XM_011522  

rs267607227

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.84154748T>C
NC_000016.10   g.84154748T>G
NC_000016.9   g.84188353T>C
NC_000016.9   g.84188353T>G
NG_021174.1   g.14489T>C
NG_021174.1   g.14489T>G
NM_178452.6   c.524T>C
NM_178452.6   c.524T>G
NM_178452.5   c.524T>C
NM_178452.5   c.524T>G
NM_178452.4   c.

rs267607225

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.84159744C>T
NC_000016.9   g.84193349C>T
NG_021174.1   g.19485C>T
NM_178452.6   c.811C>T
NM_178452.5   c.811C>T
NM_178452.4   c.811C>T
NM_001318756.1   c.55C>T
XM_011522854.3   c.811C>T
XM_006721129.3   c.811C>T
XM_011522853.3   c.811C>T
XM_011522855.3   c

Protein Summary

Gene ontology

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GO accessionTerm nameEvidence codeGo category

KEGG pathways

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Pathway idPathway name
hsa04072Phospholipase D signaling pathway
hsa04071Sphingolipid signaling pathway
hsa04024cAMP signaling pathway
hsa04022cGMP-PKG signaling pathway
hsa04150mTOR signaling pathway
hsa04144Endocytosis
hsa04510Focal adhesion
hsa04520Adherens junction
hsa04530Tight junction
hsa04810Regulation of actin cytoskeleton
hsa04611Platelet activation
hsa04621NOD-like receptor signaling pathway
hsa04625C-type lectin receptor signaling pathway
hsa04660T cell receptor signaling pathway
hsa04670Leukocyte transendothelial migration
hsa04062Chemokine signaling pathway
hsa04921Oxytocin signaling pathway
hsa04928Parathyroid hormone synthesis, secretion and action
hsa04270Vascular smooth muscle contraction
hsa04972Pancreatic secretion
hsa04722Neurotrophin signaling pathway
hsa04360Axon guidance
hsa05200Pathways in cancer
hsa05206MicroRNAs in cancer
hsa05205Proteoglycans in cancer
hsa05203Viral carcinogenesis
hsa05210Colorectal cancer
hsa05418Fluid shear stress and atherosclerosis
hsa05130Pathogenic Escherichia coli infection
hsa05135Yersinia infection
hsa05133Pertussis
hsa05152Tuberculosis
hsa05100Bacterial invasion of epithelial cells
hsa05163Human cytomegalovirus infection
hsa05200Pathways in cancer
hsa04928Parathyroid hormone synthesis, secretion and action
hsa04022cGMP-PKG signaling pathway
hsa05203Viral carcinogenesis
hsa04024cAMP signaling pathway
hsa05163Human cytomegalovirus infection
hsa04921Oxytocin signaling pathway
hsa04270Vascular smooth muscle contraction
hsa04810Regulation of actin cytoskeleton
hsa04144Endocytosis
hsa05206MicroRNAs in cancer
hsa04015Rap1 signaling pathway
hsa04071Sphingolipid signaling pathway
hsa05131Shigellosis
hsa04072Phospholipase D signaling pathway
hsa04611Platelet activation
hsa04310Wnt signaling pathway
hsa04014Ras signaling pathway
hsa05418Fluid shear stress and atherosclerosis
hsa04530Tight junction
hsa05205Proteoglycans in cancer
hsa04972Pancreatic secretion
hsa04150mTOR signaling pathway
hsa04350TGF-beta signaling pathway
hsa04510Focal adhesion
hsa04062Chemokine signaling pathway
hsa04722Neurotrophin signaling pathway
hsa04621NOD-like receptor signaling pathway
hsa04360Axon guidance
hsa05135Yersinia infection
hsa04625C-type lectin receptor signaling pathway
hsa04520Adherens junction
hsa04670Leukocyte transendothelial migration
hsa05210Colorectal cancer
hsa05130Pathogenic Escherichia coli infection
hsa05100Bacterial invasion of epithelial cells
hsa05152Tuberculosis
hsa05133Pertussis
hsa04660T cell receptor signaling pathway

Diseases

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Associated diseases References
Coronary heart disease GAD: 19911011
Crohn's disease GAD: 20307617
Diabetes GAD: 20416077
Associated with sperm capacitation MIK: 20711218
Assocaited with sperm capacitation MIK: 20711218
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
20711218 Assocaited
with sper
m capacita
tion

Male infertility
Show abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract