Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55561
Gene name Gene Name - the full gene name approved by the HGNC.
CDC42 binding protein kinase gamma
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDC42BPG
Synonyms (NCBI Gene) Gene synonyms aliases
DMPK2, HSMDPKIN, KAPPA-200, MRCKG, MRCKgamma
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT669118 hsa-miR-1306-5p HITS-CLIP 23824327
MIRT669117 hsa-miR-3927-5p HITS-CLIP 23824327
MIRT669116 hsa-miR-6734-3p HITS-CLIP 23824327
MIRT669115 hsa-miR-3667-3p HITS-CLIP 23824327
MIRT669114 hsa-miR-4436b-5p HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
SP1 Unknown 15194684
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IDA 15194684
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0004674 Function Protein serine/threonine kinase activity IDA 15194684
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613991 29829 ENSG00000171219
Protein
UniProt ID Q6DT37
Protein name Serine/threonine-protein kinase MRCK gamma (EC 2.7.11.1) (CDC42-binding protein kinase gamma) (DMPK-like gamma) (Myotonic dystrophy kinase-related CDC42-binding kinase gamma) (MRCK gamma) (MRCKG) (Myotonic dystrophy protein kinase-like gamma) (Myotonic dy
Protein function May act as a downstream effector of CDC42 in cytoskeletal reorganization. Contributes to the actomyosin contractility required for cell invasion, through the regulation of MYPT1 and thus MLC2 phosphorylation (By similarity). {ECO:0000250|UniProt
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 71 337 Protein kinase domain Domain
PF08826 DMPK_coil 744 801 DMPK coiled coil domain like Coiled-coil
PF00130 C1_1 879 929 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00780 CNH 1097 1363 CNH domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in heart and skeletal muscle. {ECO:0000269|PubMed:15194684}.
Sequence
MERRLRALEQLARGEAGGCPGLDGLLDLLLALHHELSSGPLRRERSVAQFLSWASPFVSK
VKELRLQRDDFEILKVIGRGAFGEVTVVRQRDTGQIFAMKMLHKWEMLKRAETACFREER
DVLVKGDSRWVTTLHYAFQDEEYLYLVMDYYAGGDLLTLLSRFEDRLPPELAQFYLAEMV
LAIHSLHQLGYVHRDVKPDNVLLDVNGHIRLADFGSCLRLNTNGMVDSSVAVGTPDYISP
EILQAMEEGKGHYGPQCDWWSLGVCAYELLFGETPFYAESLVETYGKIMNHEDHLQFPPD
VPDVPASAQDLIRQLLCRQEERLGRGGLDDFRNHPFF
EGVDWERLASSTAPYIPELRGPM
DTSNFDVDDDTLNHPGTLPPPSHGAFSGHHLPFVGFTYTSGSHSPESSSEAWAALERKLQ
CLEQEKVELSRKHQEALHAPTDHRELEQLRKEVQTLRDRLPEMLRDKASLSQTDGPPAGS
PGQDSDLRQELDRLHRELAEGRAGLQAQEQELCRAQGQQEELLQRLQEAQEREAATASQT
RALSSQLEEARAAQRELEAQVSSLSRQVTQLQGQWEQRLEESSQAKTIHTASETNGMGPP
EGGPQEAQLRKEVAALREQLEQAHSHRPSGKEEALCQLQEENRRLSREQERLEAELAQEQ
ESKQRLEGERRETESNWEAQLADILSWVNDEKVSRGYLQALATKMAEELESLRNVGTQTL
PARPLDHQWKARRLQKMEASARLELQSALEAEIRAKQGLQERLTQVQEAQLQAERRLQEA
EKQSQALQQELAMLREELRAR
GPVDTKPSNSLIPFLSFRSSEKDSAKDPGISGEATRHGG
EPDLRPEGRRSLRMGAVFPRAPTANTASTEGLPAKPGSHTLRPRSFPSPTKCLRCTSLML
GLGRQGLGCDACGYFCHTTCAPQAPPCPV
PPDLLRTALGVHPETGTGTAYEGFLSVPRPS
GVRRGWQRVFAALSDSRLLLFDAPDLRLSPPSGALLQVLDLRDPQFSATPVLASDVIHAQ
SRDLPRIFRVTTSQLAVPPTTCTVLLLAESEGERERWLQVLGELQRLLLDARPRPRPVYT
LKEAYDNGLPLLPHTLCAAILDQDRLALGTEEGLFVIHLRSNDIFQVGECRRVQQLTLSP
SAGLLVVLCGRGPSVRLFALAELENIEVAGAKIPESRGCQVLAAGSILQARTPVLCVAVK
RQVLCYQLGPGPGPWQRRIRELQAPATVQSLGLLGDRLCVGAAGGFALYPLLNEAAPLAL
GAGLVPEELPPSRGGLGEALGAVELSLSEFLLLFTTAGIYVDGAGRKSRGHELLWPAAPM
GWGYAAPYLTVFSENSIDVFDVRRAEWVQTVPLKKVRPLNPEG
SLFLYGTEKVRLTYLRN
QLAEKDEFDIPDLTDNSRRQLFRTKSKRRFFFRVSEEQQKQQRREMLKDPFVRSKLISPP
TNFNHLVHVGPANGRPGARDKSPAPEEKGRVARGSGPQRPHSFSEALRRPASMGSEGLGG
DADPMKRKPWTSLSSESVSCPQGSLSPATSLMQVSERPRSLPLSPELESSP
Sequence length 1551
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
Acne acne vulgaris N/A N/A GWAS
Moyamoya Disease Moyamoya disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Hyperuricemia Associate 29124443
Phenylketonurias Associate 39337507