DENND2B

DENN domain containing 2B

Summary

This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008]

Known Variants97 total

rsidPosition (GRCh37)AllelesClassClinVar
rs227095611:8,717,003T/Cbenign
rs13799677511:8,717,982C/Tuncertain significance
rs253927597511:8,718,005T/Guncertain significance
rs77351920311:8,718,085G/Auncertain significance
rs141534907311:8,718,096C/Tuncertain significance
rs253927798211:8,718,190C/Tuncertain significance
rs204059283511:8,719,075C/Tuncertain significance
rs18505581711:8,719,111C/Tuncertain significance
rs136680520111:8,719,167G/Auncertain significance
rs74836242511:8,720,764T/Guncertain significance
rs76885013711:8,720,826G/Alikely benign
rs20064744911:8,720,916G/Cuncertain significance
rs11312621511:8,724,191A/Glikely benign
rs77351373611:8,724,192C/Tuncertain significance
rs14881770711:8,724,194C/Tuncertain significance
rs204191981211:8,724,236C/Guncertain significance
rs14940282811:8,728,736C/Tbenign
rs37033233811:8,728,754G/Auncertain significance
rs77422426411:8,729,353G/Auncertain significance
rs145710402211:8,729,385G/Auncertain significance
rs76078191411:8,729,397C/Tuncertain significance
rs11729597011:8,729,851G/Tbenign
rs204359397611:8,732,687G/Auncertain significance
rs37148076811:8,732,771C/Tuncertain significance
rs125077699711:8,732,778G/Cuncertain significance
rs37114444211:8,734,099T/Cuncertain significance
rs89233408811:8,734,138C/Tuncertain significance
rs14943735511:8,734,253A/Tuncertain significance
rs6175619311:8,734,260G/Abenign
rs13951831611:8,734,270C/Tuncertain significance
rs37712557911:8,736,177A/Guncertain significance
rs75664577711:8,736,235A/Tuncertain significance
rs76877700911:8,737,160C/Tuncertain significance
rs14610358311:8,737,169C/Tuncertain significance
rs56882907511:8,737,172C/Tuncertain significance
rs159260952111:8,737,197T/Auncertain significance
rs37448372411:8,737,235G/Auncertain significance
rs76681497811:8,737,239G/Cuncertain significance
rs75042836711:8,737,276G/Tuncertain significance
rs75811883711:8,737,279C/Auncertain significance
rs204464118111:8,737,317C/Guncertain significance
rs37415245011:8,739,301C/Tlikely benign
rs75739605611:8,739,335T/Cuncertain significance
rs253951987011:8,739,347C/Tuncertain significance
rs204704453611:8,747,673G/Auncertain significance
rs76315296111:8,747,701G/Cuncertain significance
rs14835272111:8,747,725G/Cuncertain significance
rs135913175411:8,747,752A/Guncertain significance
rs77723909911:8,751,573A/Cuncertain significance
rs20080100211:8,751,577A/Gbenign
rs253965434811:8,751,585C/Tuncertain significance
rs77387455411:8,751,593G/Auncertain significance
rs75220507511:8,751,614T/Cuncertain significance
rs253965564511:8,751,665T/Auncertain significance
rs76343431111:8,751,696C/Guncertain significance
rs131434827911:8,751,701G/Tuncertain significance
rs20077520911:8,751,754C/Guncertain significance
rs143853957111:8,751,806A/Guncertain significance
rs77936139011:8,751,852C/Tlikely benign
rs20002300011:8,751,902C/Tuncertain significance
rs53899116411:8,752,012C/Auncertain significance
rs14777778611:8,752,083A/Tuncertain significance
rs7743253411:8,752,088C/Tbenign
rs77186428311:8,752,133C/Tuncertain significance
rs37400947711:8,752,168C/Guncertain significance
rs75014449611:8,752,280T/Cuncertain significance
rs86840978411:8,752,294C/Tuncertain significance
rs126470395411:8,752,316C/Guncertain significance
rs137032677011:8,752,332A/Guncertain significance
rs77106522911:8,752,344G/Auncertain significance
rs20168984811:8,752,392C/Guncertain significance
rs75743013611:8,752,415G/Alikely benign
rs37536848311:8,752,476C/Tuncertain significance
rs75363573211:8,752,488T/Cuncertain significance
rs56082306311:8,752,548C/Tlikely benign
rs37580286211:8,752,590G/Auncertain significance
rs77043045411:8,752,596G/Cuncertain significance
rs36988613711:8,752,647G/Auncertain significance
rs74964711511:8,752,700G/Auncertain significance
rs18285676611:8,752,760G/Tlikely benign
rs14951992711:8,772,183C/Tuncertain significance
rs14721392411:8,772,187G/Auncertain significance
rs75940986811:8,772,213G/Tuncertain significance
rs1074308611:8,774,923G/Aintron variant
rs1076996011:8,819,003T/Cintron variant
rs1084013011:8,830,801G/A
rs97863611:8,836,596C/Tregulatory region variant
rs6187618711:8,836,770C/Tregulatory region variant
rs1104209311:8,846,102G/Tintron variant
rs1222252611:8,846,103T/Gintron variant
rs1074309311:8,869,129A/T
rs5631604611:8,876,598G/T
rs1104210211:8,882,164C/Tintron variant
rs1104210511:8,894,510G/A
rs1076996911:8,912,228A/Gintron variant
rs18171761811:8,915,937T/G
rs7263295211:8,917,976T/Cintron variant

Gene information from NCBI Gene. Variant classifications from ClinVar.