Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57480
Gene name Gene Name - the full gene name approved by the HGNC.
Pleckstrin homology and RhoGEF domain containing G1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLEKHG1
Synonyms (NCBI Gene) Gene synonyms aliases
ARHGEF41
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q25.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016820 hsa-miR-335-5p Microarray 18185580
MIRT535163 hsa-miR-498 PAR-CLIP 22012620
MIRT535163 hsa-miR-498 PAR-CLIP 22012620
MIRT1241754 hsa-miR-1908 CLIP-seq
MIRT1241755 hsa-miR-205 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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:0005085 Function Guanyl-nucleotide exchange factor activity TAS
GO:0005654 Component Nucleoplasm IDA
GO:0005829 Component Cytosol IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
620134 20884 ENSG00000120278
Protein
UniProt ID Q9ULL1
Protein name Pleckstrin homology domain-containing family G member 1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00621 RhoGEF 117 291 RhoGEF domain Domain
Sequence
MELSDSDRPVSFGSTSSSASSRDSHGSFGSRMTLVSNSHMGLFNQDKEVGAIKLELIPAR
PFSSSELQRDNPATGQQNADEGSERPPRAQWRVDSNGAPKTIADSATSPKLLYVDRVVQE
ILETERTYVQDLKSIVEDYLDCIRDQTKLPLGTEERSALFGNIQDIYHFNSELLQDLENC
ENDPVAIAECFVSKSEEFHIYTQYCTNYPRSVAVLTECMRNKILAKFFRERQETLKHSLP
LGSYLLKPVQRILKYHLLLHEIENHLDKDTEGYDVVLDAIDTMQRVAWHIN
DMKRKHEHA
VRLQEIQSLLTNWKGPDLTSYGELVLEGTFRIQRAKNERTLFLFDKLLLITKKRDDTFTY
KAHILCGNLMLVEVIPKEPLSFSVFHYKNPKLQHTVQAKSQQDKRLWVLHLKRLILENHA
AKIPAKAKQAILEMDAIHHPGFCYSPEGGTKALFGSKEGSAPYRLRRKSEPSSRSHKVLK
TSETAQDIQKVSREEGSPQLSSARPSPAQRNSQPSSSTMISVLRAGGALRNIWTDHQIRQ
ALFPSRRSPQENEDDEDDYQMFVPSFSSSDLNSTRLCEDSTSSRPCSWHMGQMESTETSS
SGHRIVRRASSAGESNTCPPEIGTSDRTRELQNSPKTEGQEEMTPFGSSIELTIDDIDHV
YDNISYEDLKLMVAKREEAESTPSKSARDSVRPKSTPELAFTKRQAGHSKGSLYAQTDGT
LSGGEASSQSTHELQAVEENIYDTIGLPDPPSLGFKCSSLKRAKRSTFLGLEADFVCCDS
LRPFVSQDSLQLSEDEAPYHQATPDHGYLSLLYDSPSGNLSMPHKPVSDKLSEEVDEIWN
DLENYIKKNEDKARDRLLAAFPVSKDDVPDRLHAESTPELSRDVGRSVSTLSLPESQALL
TPVKSRAGRASRANCPFEEDLISKEGSFMSLNRLSLASEMPLMDNPYDLANSGLSQTDPE
NPDLGMEATDKTKSRVFMMARQYSQKIKKANQLLKVKSLELEQPPASQHQKSMHKDLAAI
LEEKKQGGPAIGARIAEYSQLYDQIVFRESPLKIQKDGWASPQESSLLRSVSPSQVHHGS
GDWLLHSTYSNGELADFCLPPEQDLRSRYPTFEINTKSTPRQLSAACSVPSLQTSDPLPG
SVQRCSVVVSQPNKENWCQDHLYNSLGRKGISAKSQPYHRSQSSSSVLINKSMDSINYPS
DVGKQQLLSLHRSSRCESHQDLLPDIADSHQQGTEKLSDLTLQDSQKVVVVNRNLPLNAQ
IATQNYFSNFKETDGDEDDYVEIKSEEDESELELSHNRRRKSDSKFVDADFSDNVCSGNT
LHSLNSPRTPKKPVNSKLGLSPYLTPYNDSDKLNDYLWRGPSPNQQNIVQSLREKFQCLS
SSSFA
Sequence length 1385
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Hypertension High blood pressure / hypertension, Hypertension (PheCode 401), Essential hypertension (PheCode 401.1), Hypertension, Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carotid Artery Injuries Associate 30659137
Cerebral Infarction Associate 30659137
Heart Murmurs Associate 34793544
Leukoencephalopathies Associate 30659137, 39202455
Leukomalacia Periventricular Associate 39202455
Neoplasms Associate 36335125
Neurologic Manifestations Associate 29967039
Pre Eclampsia Associate 29967039
Waldenstrom Macroglobulinemia Associate 24366360