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PLEKHG6 pleckstrin homology and RhoGEF domain containing G6 [ Homo sapiens (human) ]

Gene ID: 55200, updated on 1-Jun-2020

Summary

Official Symbol
PLEKHG6provided by HGNC
Official Full Name
pleckstrin homology and RhoGEF domain containing G6provided by HGNC
Primary source
HGNC:HGNC:25562
See related
Ensembl:ENSG00000008323 MIM:611743
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MyoGEF
Expression
Biased expression in small intestine (RPKM 12.7), colon (RPKM 11.9) and 11 other tissues See more
Orthologs

Genomic context

See PLEKHG6 in Genome Data Viewer
Location:
12p13.31
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (6310436..6328506)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6419602..6437672)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369625 Neighboring gene Sharpr-MPRA regulatory region 10601 Neighboring gene uncharacterized LOC105369624 Neighboring gene TNF receptor superfamily member 1A Neighboring gene Sharpr-MPRA regulatory region 11848 Neighboring gene RNA, 7SL, cytoplasmic 391, pseudogene

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?

Phenotypes

NHGRI GWAS Catalog

Description
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10665, MGC126315, MGC126353, MGC126354

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
 
centrosome IDA
Inferred from Direct Assay
more info
 
cleavage furrow IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
microvillus IEA
Inferred from Electronic Annotation
more info
 
spindle pole IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pleckstrin homology domain-containing family G member 6
Names
PH domain-containing family G member 6
myosin II interacting GEF
myosin interacting guanine nucleotide exchange factor
pleckstrin homology domain containing, family G (with RhoGef domain) member 6

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.

mRNA and Protein(s)

  1. NM_001144856.1NP_001138328.1  pleckstrin homology domain-containing family G member 6 isoform a

    See identical proteins and their annotated locations for NP_001138328.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AC006057, AK023741, AW001611, BC109095, BU754580
    Consensus CDS
    CCDS8541.1
    UniProtKB/Swiss-Prot
    Q3KR16
    Related
    ENSP00000380185.3, ENST00000396988.7
    Conserved Domains (2) summary
    cd13244
    Location:408506
    PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
    pfam00621
    Location:165351
    RhoGEF; RhoGEF domain
  2. NM_001144857.1NP_001138329.1  pleckstrin homology domain-containing family G member 6 isoform b

    See identical proteins and their annotated locations for NP_001138329.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting protein (isoform b) has a shorter and distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AC006057, AK095373, AW001611, BU754580
    Consensus CDS
    CCDS44808.1
    UniProtKB/Swiss-Prot
    Q3KR16
    Related
    ENSP00000393194.2, ENST00000449001.6
    Conserved Domains (3) summary
    cd13244
    Location:376474
    PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
    pfam00169
    Location:378475
    PH; PH domain
    pfam00621
    Location:133319
    RhoGEF; RhoGEF domain
  3. NM_018173.3NP_060643.2  pleckstrin homology domain-containing family G member 6 isoform a

    See identical proteins and their annotated locations for NP_060643.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript but encodes the longer isoform (a). Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AK001527, BC105961, BU754580
    Consensus CDS
    CCDS8541.1
    UniProtKB/Swiss-Prot
    Q3KR16
    Related
    ENSP00000011684.7, ENST00000011684.11
    Conserved Domains (2) summary
    cd13244
    Location:408506
    PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
    pfam00621
    Location:165351
    RhoGEF; RhoGEF domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    6310436..6328506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253704.4XP_005253761.1  pleckstrin homology domain-containing family G member 6 isoform X1

    See identical proteins and their annotated locations for XP_005253761.1

    UniProtKB/Swiss-Prot
    Q3KR16
    Conserved Domains (2) summary
    cd13244
    Location:408506
    PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
    pfam00621
    Location:165351
    RhoGEF; RhoGEF domain
  2. XM_006718985.3XP_006719048.1  pleckstrin homology domain-containing family G member 6 isoform X3

    Conserved Domains (3) summary
    cd13244
    Location:394492
    PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
    pfam00169
    Location:396493
    PH; PH domain
    pfam00621
    Location:165339
    RhoGEF; RhoGEF domain
  3. XM_017019555.1XP_016875044.1  pleckstrin homology domain-containing family G member 6 isoform X2

  4. XM_011520967.2XP_011519269.1  pleckstrin homology domain-containing family G member 6 isoform X4

    Conserved Domains (3) summary
    cd13244
    Location:386484
    PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain
    pfam00169
    Location:388485
    PH; PH domain
    pfam00621
    Location:143329
    RhoGEF; RhoGEF domain

RNA

  1. XR_931514.2 RNA Sequence

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