Gene Gene information from NCBI Gene database.
Entrez ID 153478
Gene name Pleckstrin homology and RhoGEF domain containing G4B
Gene symbol PLEKHG4B
Synonyms (NCBI Gene)
ARHGEF48
Chromosome 5
Chromosome location 5p15.33
Summary This gene encodes a large protein that contains a pleckstrin homology domain and may function as a guanine nucleotide exchange factor. [provided by RefSeq, May 2017]
miRNA miRNA information provided by mirtarbase database.
606
miRTarBase ID miRNA Experiments Reference
MIRT711393 hsa-miR-449b-3p HITS-CLIP 19536157
MIRT711392 hsa-miR-6892-3p HITS-CLIP 19536157
MIRT711391 hsa-miR-2276-5p HITS-CLIP 19536157
MIRT711389 hsa-miR-4742-3p HITS-CLIP 19536157
MIRT711388 hsa-miR-642a-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 32203420, 33310911
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity TAS
GO:0005515 Function Protein binding IPI 27107012, 32203420, 33310911
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620665 29399 ENSG00000153404
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96PX9
Protein name Pleckstrin homology domain-containing family G member 4B (PH domain-containing family G member 4B)
Protein function Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP. Plays a role in actin cytoskeletal remodeling in the late stage of cell-cell junction formation by regulating the cont
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00621 RhoGEF 809 966 RhoGEF domain Domain
Sequence
MEALRNPMPLGSSEEALGDLACSSLTGASRDLGTGAVASGTQEETSGPRGDPQQTPSLEK
ERHTPSRTGPGAAGRTLPRRSRSWERAPRSSRGAQAAACHTSHHSAGSRPGGHLGGQAVG
TPNCVPVEGPGCTKEEDVLASSACVSTDGGSLHCHNPSGPSDVPARQPHPEQEGWPPGTG
DFPSQVPKQVLDVSQELLQSGVVTLPGTRDRHGRAVVQVRTRSLLWTREHSSCAELTRLL
LYFHSIPRKEVRDLGLVVLVDARRSPAAPAVSQALSGLQNNTSPIIHSILLLVDKESAFR
PDKDAIIQCEVVSSLKAVHKFVDSCQLTADLDGSFPYSHGDWICFRQRLEHFAANCEEAI
IFLQNSFCSLNTHRTPRTAQEVAELIDQHETMMKLVLEDPLLVSLRLEGGTVLARLRREE
LGTEDSRDTLEAATSLYDRVDEEVHRLVLTSNNRLQQLEHLRELASLLEGNDQQSCQKGL
QLAKENPQRTEEMVQDFRRGLSAVVSQAECREGELARWTRSSELCETVSSWMGPLDPEAC
PSSPVAECLRSCHQEATSVAAEAFPGAGVAVLKPHALGKPWASQQDLWLQYPQTRLRLEE
ALSEAAPDPSLPPLAQSPPKHERAQEAMRRHQKPPSFPSTDSGGGAWEPAQPLSGLPGRA
LLCGQDGETLRPGLCALWDPLSLLRGLPGAGATTAHLEDSSACSSEPTQTLASRPRKHPQ
KKMIKKTQSFEIPQPDSGPRDSCQPDHTSVFSKGLEVTSTVATEKKLPLWQHARSPPVTQ
SRSLSSPSGLHPAEEDGRQQVGSSRLRHIMAEMIATEREYIRCLGYVIDNYFPEMERMDL
PQGLRGKHHVIFGNLEKLHDFHQQHFLRELERCQHCPLAVGRSFLRHEEQFGMYVIYSKN
KPQSDALLSSHGNAFFKDKQRELGDKMDLASYLLRPVQRVAKYALLLQDLLKEASCGLAQ
GQELGE
LRAAEVVVCFQLRHGNDLLAMDAIRGCDVNLKEQGQLRCRDEFIVCCGRKKYLR
HVFLFEDLILFSKTQKVEGSHDVYLYKQSFKTAEIGMTENVGDSGLRFEIWFRRRRKSQD
TYILQASSAEVKSAWTDVIGRILWRQALKSRELRIQEMASMGIGNQPFMDVKPRDRTPDC
AVISDRAPKCAVMSDRVPDSIVKGTESQMRGSTAVSSSDHAAPFKRPHSTISDSSTSSSS
SQSSSILGSLGLLVSSSPAHPGLWSPAHSPWSSDIRACVEEDEPEPELETGTQAAVCEGA
PAVLLSRTRQA
Sequence length 1271
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
Abnormality of neuronal migration Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
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
Asthma Asthma GWASCAT_DG 27611488
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34071075 Associate
★☆☆☆☆
Found in Text Mining only
Gastroschisis Gastroschisis Pubtator 31075877 Associate
★☆☆☆☆
Found in Text Mining only
Metabolic Diseases Metabolic syndrome Pubtator 25523635 Associate
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 32149080 Associate
★☆☆☆☆
Found in Text Mining only