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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hiatt-Neu-Cooper neurodevelopmental syndrome Pathogenic; Likely pathogenic rs1554297905, rs2116098628, rs2116098885, rs2116098682, rs2534049677, rs2534049660, rs2534033985, rs2534033999 RCV001380399
RCV001380400
RCV001380401
RCV001775353
RCV002468770
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability Likely pathogenic; Pathogenic rs1554297905 RCV001526588
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay Pathogenic rs2116098893 RCV002274367
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COMPLEX NEURODEVELOPMENTAL DISORDER ClinGen, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RALA-related disorder Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 32614981 Associate
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism CLINVAR_DG 30500825
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm LHGDN 17606711
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19609003, 36229838 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 26152517, 33122623 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 17717605, 19683863, 19822090, 34767674, 36466919 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 20801877, 22331470, 24222664 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 22580611 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 21159665 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 22586063 Inhibit
★☆☆☆☆
Found in Text Mining only