Gene Gene information from NCBI Gene database.
Entrez ID 55103
Gene name Ral GEF with PH domain and SH3 binding motif 2
Gene symbol RALGPS2
Synonyms (NCBI Gene)
dJ595C2.1
Chromosome 1
Chromosome location 1q25.2
miRNA miRNA information provided by mirtarbase database.
408
miRTarBase ID miRNA Experiments Reference
MIRT018138 hsa-miR-335-5p Microarray 18185580
MIRT030930 hsa-miR-21-5p Microarray 18591254
MIRT048242 hsa-miR-196a-5p CLASH 23622248
MIRT666757 hsa-miR-6796-3p HITS-CLIP 23824327
MIRT666756 hsa-miR-3121-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005515 Function Protein binding IPI 15778465, 32296183, 35271311, 36931259
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617819 30279 ENSG00000116191
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86X27
Protein name Ras-specific guanine nucleotide-releasing factor RalGPS2 (Ral GEF with PH domain and SH3-binding motif 2) (RalA exchange factor RalGPS2)
Protein function Guanine nucleotide exchange factor for the small GTPase RALA. May be involved in cytoskeletal organization. May also be involved in the stimulation of transcription in a Ras-independent fashion (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00617 RasGEF 52 234 RasGEF domain Family
PF00169 PH 458 569 PH domain Domain
Sequence
MDLMNGQASSVNIAATASEKSSSSESLSDKGSELKKSFDAVVFDVLKVTPEEYAGQITLM
DVPVFKAIQPDELSSCGWNKKEKYSSAPNAVAFTRRFNHVSFWVVREILHAQTLKIRAEV
LSHYIKTAKKLYELNNLHALMAVVSGLQSAPIFRLTKTWALLSRKDKTTFEKLEYVMSKE
DNYKRLRDYISSLKMTPCIPYLGIYLSDLTYIDSAYPSTGSILENEQRSNLMNN
ILRIIS
DLQQSCEYDIPMLPHVQKYLNSVQYIEELQKFVEDDNYKLSLKIEPGTSTPRSAASREDL
VGPEVGASPQSGRKSVAAEGALLPQTPPSPRNLIPHGHRKCHSLGYNFIHKMNTAEFKSA
TFPNAGPRHLLDDSVMEPHAPSRGQAESSTLSSGISIGSSDGSELSEETSWPAFERNRLY
HSLGPVTRVARNGYRSHMKASSSAESEDLAVHLYPGAVTIQGVLRRKTLLKEGKKPTVAS
WTKYWAALCGTQLFYYAAKSLKATERKHFKSTSNKNVSVIGWMVMMADDPEHPDLFLLTD
SEKGNSYKFQAGNRMNAMLWFKHLSAACQ
SNKQQVPTNLMTFE
Sequence length 583
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
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
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 32802839
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 27149377
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Associate 27149377
★☆☆☆☆
Found in Text Mining only
Pulmonary Arterial Hypertension Associate 25361553
★☆☆☆☆
Found in Text Mining only