Gene Gene information from NCBI Gene database.
Entrez ID 5898
Gene name RAS like proto-oncogene A
Gene symbol RALA
Synonyms (NCBI Gene)
HINCONSRAL
Chromosome 7
Chromosome location 7p14.1
Summary The product of this gene belongs to the small GTPase superfamily, Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. This gene encodes a low molecular mass ras-lik
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1554297905 G>A Pathogenic, likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
383
miRTarBase ID miRNA Experiments Reference
MIRT006194 hsa-miR-181a-5p FlowLuciferase reporter assayMicroarrayqRT-PCRWestern blot 22442671
MIRT006194 hsa-miR-181a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 22442671
MIRT006194 hsa-miR-181a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 22442671
MIRT006194 hsa-miR-181a-5p FlowLuciferase reporter assayMicroarrayqRT-PCRWestern blot 22442671
MIRT006194 hsa-miR-181a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 22442671
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
58
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001843 Process Neural tube closure IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
GO:0003924 Function GTPase activity IMP 30500825
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
179550 9839 ENSG00000006451
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11233
Protein name Ras-related protein Ral-A (EC 3.6.5.2)
Protein function Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct
PDB 1UAD , 1ZC3 , 1ZC4 , 2A78 , 2A9K , 2BOV , 6P0I , 6P0J , 6P0K , 6P0L , 6P0M , 6P0N , 6P0O , 7NQC , 8FJH , 8FJI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 16 177 Ras family Domain
Sequence
Sequence length 206
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ras signaling pathway
Rap1 signaling pathway
Phospholipase D signaling pathway
Salmonella infection
Pathways in cancer
Colorectal cancer
Pancreatic cancer
  Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
18
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hiatt-Neu-Cooper neurodevelopmental syndrome Pathogenic; Likely pathogenic rs1554297905, rs2116098628, rs2116098885, rs2116098682, rs2534049677, rs2534049660, rs2534033985, rs2534033999 RCV001380399
RCV001380400
RCV001380401
RCV001775353
RCV002468770
RCV005870138
RCV003333510
RCV003387492
RCV001380398
Intellectual disability Likely pathogenic; Pathogenic rs1554297905 RCV001526588
Neurodevelopmental delay Pathogenic rs2116098893 RCV002274367
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
RALA-related disorder Uncertain significance; Likely benign rs1053085090, rs199849868, rs2534060101 RCV003402050
RCV003933624
RCV003404226
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 32614981
Breast Neoplasms Associate 19609003, 36229838
Carcinogenesis Associate 26152517, 33122623
Carcinoma Hepatocellular Associate 17717605, 19683863, 19822090, 34767674, 36466919
Carcinoma Non Small Cell Lung Associate 22247021
Carcinoma Pancreatic Ductal Associate 20801877, 22331470, 24222664
Carcinoma Renal Cell Associate 22580611
Carcinoma Squamous Cell Associate 21159665
Carcinoma Squamous Cell Inhibit 22586063
Carcinosarcoma Associate 34745385