Format

Send to:

Choose Destination

PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 [ Homo sapiens (human) ]

Gene ID: 64857, updated on 21-Dec-2019

Summary

Official Symbol
PLEKHG2provided by HGNC
Official Full Name
pleckstrin homology and RhoGEF domain containing G2provided by HGNC
Primary source
HGNC:HGNC:29515
See related
Ensembl:ENSG00000090924 MIM:611893
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CLG; LDAMD; ARHGEF42; CTB-60E11.4
Summary
The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017]
Expression
Ubiquitous expression in endometrium (RPKM 7.0), appendix (RPKM 6.7) and 25 other tissues See more
Orthologs

Genomic context

See PLEKHG2 in Genome Data Viewer
Location:
19q13.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (39412582..39428415)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39903222..39919055)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene tRNA-Ile (anticodon TAT) 1-1 Neighboring gene microRNA 4530 Neighboring gene ribosomal protein S16 Neighboring gene SPT5 homolog, DSIF elongation factor subunit Neighboring gene small nucleolar RNA, C/D box 175

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00018, FLJ22458, FLJ38638, DKFZp667J2325

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rho guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
pleckstrin homology domain-containing family G member 2
Names
PH domain-containing family G member 2
common-site lymphoma/leukemia guanine nucleotide exchange factor
pleckstrin homology domain containing, family G (with RhoGef domain) member 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_054904.1 RefSeqGene

    Range
    5088..20834
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001351693.2NP_001338622.1  pleckstrin homology domain-containing family G member 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC011500
    Consensus CDS
    CCDS86767.1
    Related
    ENSP00000408857.2, ENST00000458508.6
    Conserved Domains (3) summary
    cd13243
    Location:204354
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00621
    Location:47222
    RhoGEF; RhoGEF domain
    cl26464
    Location:384845
    Atrophin-1; Atrophin-1 family
  2. NM_001351694.2NP_001338623.1  pleckstrin homology domain-containing family G member 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC011500
    Consensus CDS
    CCDS86766.1
    Related
    ENSP00000386492.1, ENST00000409797.6
    Conserved Domains (2) summary
    cd13243
    Location:263413
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00621
    Location:106281
    RhoGEF; RhoGEF domain
  3. NM_022835.3NP_073746.2  pleckstrin homology domain-containing family G member 2 isoform 1

    See identical proteins and their annotated locations for NP_073746.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC011500, AK024429, AK095957
    Consensus CDS
    CCDS33022.2
    UniProtKB/Swiss-Prot
    Q9H7P9
    Related
    ENSP00000392906.2, ENST00000425673.6
    Conserved Domains (3) summary
    cd13243
    Location:263413
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:337409
    PH; PH domain
    pfam00621
    Location:106282
    RhoGEF; RhoGEF domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    39412582..39428415
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027150.1XP_016882639.1  pleckstrin homology domain-containing family G member 2 isoform X3

    Conserved Domains (3) summary
    cd13243
    Location:264414
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:338410
    PH; PH domain
    pfam00621
    Location:107283
    RhoGEF; RhoGEF domain
  2. XM_017027151.1XP_016882640.1  pleckstrin homology domain-containing family G member 2 isoform X4

    Related
    ENSP00000205135.3, ENST00000205135.8
    Conserved Domains (3) summary
    cd13243
    Location:264414
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:338410
    PH; PH domain
    pfam00621
    Location:107283
    RhoGEF; RhoGEF domain
  3. XM_006723334.2XP_006723397.1  pleckstrin homology domain-containing family G member 2 isoform X5

    Conserved Domains (3) summary
    cd13243
    Location:204354
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:278350
    PH; PH domain
    pfam00621
    Location:47223
    RhoGEF; RhoGEF domain
  4. XM_011527232.2XP_011525534.1  pleckstrin homology domain-containing family G member 2 isoform X1

    See identical proteins and their annotated locations for XP_011525534.1

    Conserved Domains (3) summary
    cd13243
    Location:264414
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:338410
    PH; PH domain
    pfam00621
    Location:107283
    RhoGEF; RhoGEF domain
  5. XM_005259163.2XP_005259220.1  pleckstrin homology domain-containing family G member 2 isoform X2

    See identical proteins and their annotated locations for XP_005259220.1

    UniProtKB/Swiss-Prot
    Q9H7P9
    Conserved Domains (3) summary
    cd13243
    Location:263413
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:337409
    PH; PH domain
    pfam00621
    Location:106282
    RhoGEF; RhoGEF domain

RNA

  1. XR_002958344.1 RNA Sequence

Support Center