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Gene id 26030
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol PLEKHG3   Gene   UCSC   Ensembl
Aliases ARHGEF43, KIAA0599
Gene name pleckstrin homology and RhoGEF domain containing G3
Alternate names pleckstrin homology domain-containing family G member 3, PH domain-containing family G member 3, pleckstrin homology domain containing, family G (with RhoGef domain) member 3, pleckstrin homology domain containing, family G, member 3,
Gene location 14q23.3 (64704127: 64750248)     Exons: 25     NC_000014.9
OMIM 617940

Protein Summary

Protein general information A1L390  

Name: Pleckstrin homology domain containing family G member 3 (PH domain containing family G member 3)

Length: 1219  Mass: 134412

Sequence MPVSTSLHQDGSQERPVSLTSTTSSSGSSCDSRSAMEEPSSSEAPAKNGAGSLRSRHLPNSNNNSSSWLNVKGPL
SPFNSRAAAGPAHHKLSYLGRVVREIVETERMYVQDLRSIVEDYLLKIIDTPGLLKPEQVSALFGNIENIYALNS
QLLRDLDSCNSDPVAVASCFVERSQEFDIYTQYCNNYPNSVAALTECMRDKQQAKFFRDRQELLQHSLPLGSYLL
KPVQRILKYHLLLQEIAKHFDEEEDGFEVVEDAIDTMTCVAWYINDMKRRHEHAVRLQEIQSLLINWKGPDLTTY
GELVLEGTFRVHRVRNERTFFLFDKTLLITKKRGDHFVYKGNIPCSSLMLIESTRDSLCFTVTHYKHSKQQYSIQ
AKTVEEKRNWTHHIKRLILENHHATIPQKAKEAILEMDSYYPNRYRCSPERLKKAWSSQDEVSTNVRQGRRQSEP
TKHLLRQLNEKARAAGMKGKGRRESESSRSSRRPSGRSPTSTEKRMSFESISSLPEVEPDPEAGSEQEVFSAVEG
PSAEETPSDTESPEVLETQLDAHQGLLGMDPPGDMVDFVAAESTEDLKALSSEEEEEMGGAAQEPESLLPPSVLD
QASVIAERFVSSFSRRSSVAQEDSKSSGFGSPRLVSRSSSVLSLEGSEKGLARHGSATDSLSCQLSPEVDISVGV
ATEDSPSVNGMEPPSPGCPVEPDRSSCKKKESALSTRDRLLLDKIKSYYENAEHHDAGFSVRRRESLSYIPKGLV
RNSISRFNSLPRPDPEPVPPVGSKRQVGSRPTSWALFELPGPSQAVKGDPPPISDAEFRPSSEIVKIWEGMESSG
GSPGKGPGQGQANGFDLHEPLFILEEHELGAITEESATASPESSSPTEGRSPAHLARELKELVKELSSSTQGELV
APLHPRIVQLSHVMDSHVSERVKNKVYQLARQYSLRIKSNKPVMARPPLQWEKVAPERDGKSPTVPCLQEEAGEP
LGGKGKRKPVLSLFDYEQLMAQEHSPPKPSSAGEMSPQRFFFNPSAVSQRTTSPGGRPSARSPLSPTETFSWPDV
RELCSKYASRDEARRAGGGRPRGPPVNRSHSVPENMVEPPLSGRVGRCRSLSTKRGRGGGEAAQSPGPLPQSKPD
GGETLYVTADLTLEDNRRVIVMEKGPLPSPTAGLEESSGQGPSSPVALLGQVQDFQQSAECQPKEEGSRDPADPS
QQGRVRNLREKFQALNSVG
Structural information
Protein Domains
(93..27-)
(/note="DH-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
(296..39-)
(/note="PH-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
Interpro:  IPR035899  IPR000219  IPR011993  IPR001849  
Prosite:   PS50010 PS50003
CDD:   cd00160
STRING:   ENSP00000247226
Other Databases GeneCards:  PLEKHG3  Malacards:  PLEKHG3

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0005089 Rho guanyl-nucleotide exc
hange factor activity
IBA molecular function
GO:0005085 guanyl-nucleotide exchang
e factor activity
IEA molecular function
Associated diseases References
Cryptorchidism MIK: 28606200
Spermatogenic defects MIK: 31037746
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

19 (6 controls
, 13 cases)
Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract
31037746 Spermatoge
nic defect
s

28 men with az
oospermia
Male infertility Microarray
Show abstract