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PLEKHG7 pleckstrin homology and RhoGEF domain containing G7 [ Homo sapiens (human) ]

Gene ID: 440107, updated on 23-Nov-2021

Summary

Official Symbol
PLEKHG7provided by HGNC
Official Full Name
pleckstrin homology and RhoGEF domain containing G7provided by HGNC
Primary source
HGNC:HGNC:33829
See related
Ensembl:ENSG00000187510
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
C12orf74
Expression
Biased expression in urinary bladder (RPKM 1.1), lymph node (RPKM 0.8) and 12 other tissues See more
Orthologs
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Genomic context

See PLEKHG7 in Genome Data Viewer
Location:
12q22
Exon count:
17
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (92702989..92772455)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (93096765..93166231)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene mitochondrial carrier 2 pseudogene Neighboring gene uncharacterized LOC105369905 Neighboring gene early endosome antigen 1 Neighboring gene s-adenosylmethionine synthase isoform type-2-like Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 50

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

Phenotypes

Associated conditions

Description Tests
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ46688, MGC125584, MGC125586

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pleckstrin homology domain-containing family G member 7
Names
PH domain-containing family G member 7
pleckstrin homology domain containing, family G (with RhoGef domain) member 7
uncharacterized protein C12orf74

NCBI Reference Sequences (RefSeq)

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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_001037671.4NP_001032760.1  pleckstrin homology domain-containing family G member 7 isoform 2

    See identical proteins and their annotated locations for NP_001032760.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate segment in the 3' coding region, which shifts the reading frame, compared to variant 1. The resulting protein (isoform 2) is longer and has a distinct C-terminus when it is compared to isoform 1.
    Source sequence(s)
    AC016136
    Consensus CDS
    CCDS41819.1
    UniProtKB/Swiss-Prot
    Q32Q52
    Related
    ENSP00000380933.3, ENST00000397833.3
    Conserved Domains (1) summary
    pfam15720
    Location:2190
    DUF4675; Domain of unknown function (DUF4675)
  2. NM_001178097.3NP_001171568.1  pleckstrin homology domain-containing family G member 7 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) is the longer transcript yet it encodes the shorter protein (isoform 1).
    Source sequence(s)
    AC016136
    Consensus CDS
    CCDS53818.1
    UniProtKB/Swiss-Prot
    Q32Q52
    Related
    ENSP00000446043.2, ENST00000544406.2
    Conserved Domains (1) summary
    pfam15720
    Location:2173
    DUF4675; Domain of unknown function (DUF4675)
  3. NM_001377329.1NP_001364258.1  pleckstrin homology domain-containing family G member 7 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC016136
    Related
    ENSP00000344961.5, ENST00000344636.6
    Conserved Domains (3) summary
    smart00325
    Location:292476
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13245
    Location:535663
    PH_PLEKHG7; Pleckstrin homology domain-containing family G member 7 pleckstrin homology (PH) domain
    pfam15720
    Location:2178
    DUF4675; Domain of unknown function (DUF4675)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    92702989..92772455
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001004330.2: Suppressed sequence

    Description
    NM_001004330.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
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