Gene Gene information from NCBI Gene database.
Entrez ID 26030
Gene name Pleckstrin homology and RhoGEF domain containing G3
Gene symbol PLEKHG3
Synonyms (NCBI Gene)
ARHGEF43KIAA0599
Chromosome 14
Chromosome location 14q23.3
miRNA miRNA information provided by mirtarbase database.
344
miRTarBase ID miRNA Experiments Reference
MIRT018105 hsa-miR-335-5p Microarray 18185580
MIRT042767 hsa-miR-339-5p CLASH 23622248
MIRT510229 hsa-miR-548c-3p HITS-CLIP 21572407
MIRT510228 hsa-miR-4668-3p HITS-CLIP 21572407
MIRT510227 hsa-miR-500a-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IDA 27555588
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity TAS
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617940 20364 ENSG00000126822
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A1L390
Protein name Pleckstrin homology domain-containing family G member 3 (PH domain-containing family G member 3)
Protein function Plays a role in controlling cell polarity and cell motility by selectively binding newly polymerized actin and activating RAC1 and CDC42 to enhance local actin polymerization.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00621 RhoGEF 97 270 RhoGEF domain Domain
PF00169 PH 297 394 PH domain Domain
Sequence
MPVSTSLHQDGSQERPVSLTSTTSSSGSSCDSRSAMEEPSSSEAPAKNGAGSLRSRHLPN
SNNNSSSWLNVKGPLSPFNSRAAAGPAHHKLSYLGRVVREIVETERMYVQDLRSIVEDYL
LKIIDTPGLLKPEQVSALFGNIENIYALNSQLLRDLDSCNSDPVAVASCFVERSQEFDIY
TQYCNNYPNSVAALTECMRDKQQAKFFRDRQELLQHSLPLGSYLLKPVQRILKYHLLLQE
IAKHFDEEEDGFEVVEDAIDTMTCVAWYIN
DMKRRHEHAVRLQEIQSLLINWKGPDLTTY
GELVLEGTFRVHRVRNERTFFLFDKTLLITKKRGDHFVYKGNIPCSSLMLIESTRDSLCF
TVTHYKHSKQQYSIQAKTVEEKRNWTHHIKRLIL
ENHHATIPQKAKEAILEMDSYYPNRY
RCSPERLKKAWSSQDEVSTNVRQGRRQSEPTKHLLRQLNEKARAAGMKGKGRRESESSRS
SRRPSGRSPTSTEKRMSFESISSLPEVEPDPEAGSEQEVFSAVEGPSAEETPSDTESPEV
LETQLDAHQGLLGMDPPGDMVDFVAAESTEDLKALSSEEEEEMGGAAQEPESLLPPSVLD
QASVIAERFVSSFSRRSSVAQEDSKSSGFGSPRLVSRSSSVLSLEGSEKGLARHGSATDS
LSCQLSPEVDISVGVATEDSPSVNGMEPPSPGCPVEPDRSSCKKKESALSTRDRLLLDKI
KSYYENAEHHDAGFSVRRRESLSYIPKGLVRNSISRFNSLPRPDPEPVPPVGSKRQVGSR
PTSWALFELPGPSQAVKGDPPPISDAEFRPSSEIVKIWEGMESSGGSPGKGPGQGQANGF
DLHEPLFILEEHELGAITEESATASPESSSPTEGRSPAHLARELKELVKELSSSTQGELV
APLHPRIVQLSHVMDSHVSERVKNKVYQLARQYSLRIKSNKPVMARPPLQWEKVAPERDG
KSPTVPCLQEEAGEPLGGKGKRKPVLSLFDYEQLMAQEHSPPKPSSAGEMSPQRFFFNPS
AVSQRTTSPGGRPSARSPLSPTETFSWPDVRELCSKYASRDEARRAGGGRPRGPPVNRSH
SVPENMVEPPLSGRVGRCRSLSTKRGRGGGEAAQSPGPLPQSKPDGGETLYVTADLTLED
NRRVIVMEKGPLPSPTAGLEESSGQGPSSPVALLGQVQDFQQSAECQPKEEGSRDPADPS
QQGRVRNLREKFQALNSVG
Sequence length 1219
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
ANEMIA, HEMOLYTIC, CONGENITAL Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SPHEROCYTOSIS, HEREDITARY, 2 Disgenet
★★☆☆☆
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
Autistic Disorder Autism BEFREE 21360829
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 21360829 Associate
★☆☆☆☆
Found in Text Mining only
Learning Disabilities Learning disorders Pubtator 21360829 Associate
★☆☆☆☆
Found in Text Mining only