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

Gene ID: 440107, updated on 23-Mar-2024

Summary

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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 AllianceGenome:HGNC:33829
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
Summary
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in Rho protein signal transduction. [provided by Alliance of Genome Resources, Apr 2022]
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

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Location:
12q22
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (92702989..92772455)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (92680461..92750036)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (93096765..93166231)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903118 Neighboring gene MPRA-validated peak1885 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6750 Neighboring gene MPRA-validated peak1886 silencer Neighboring gene uncharacterized LOC105369905 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6751 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:92987036-92988235 Neighboring gene uncharacterized LOC124902983 Neighboring gene MPRA-validated peak1887 silencer Neighboring gene Sharpr-MPRA regulatory region 11325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6753 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:93139520-93140719 Neighboring gene MPRA-validated peak1888 silencer Neighboring gene uncharacterized LOC124902984 Neighboring gene early endosome antigen 1 Neighboring gene s-adenosylmethionine synthase type-2-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. Aouizerat BE, et al. BMC Cardiovasc Disord, 2011 Jun 10. PMID 21658281, Free PMC Article
  2. Genome-wide association study of chronic periodontitis in a general German population. Teumer A, et al. J Clin Periodontol, 2013 Nov. PMID 24024966
  3. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
  4. Systems analysis of RhoGEF and RhoGAP regulatory proteins reveals spatially organized RAC1 signalling from integrin adhesions. Müller PM, et al. Nat Cell Biol, 2020 Apr. PMID 32203420
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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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_001037671.4 → NP_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:2 → 190
    DUF4675; Domain of unknown function (DUF4675)

  2. NM_001178097.3 → NP_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:2 → 173
    DUF4675; Domain of unknown function (DUF4675)

  3. NM_001377329.1 → NP_001364258.1  pleckstrin homology domain-containing family G member 7 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC016136
    Consensus CDS
    CCDS91737.1
    UniProtKB/Swiss-Prot
    A0A1X7SBZ7, B2RNR7, F5H4P0, Q32Q52, Q6ZR37
    Related
    ENSP00000344961.5, ENST00000344636.6
    Conserved Domains (3) summary
    smart00325
    Location:292 → 476
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd13245
    Location:535 → 663
    PH_PLEKHG7; Pleckstrin homology domain-containing family G member 7 pleckstrin homology (PH) domain
    pfam15720
    Location:2 → 178
    DUF4675; Domain of unknown function (DUF4675)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047428867.1 → XP_047284823.1  pleckstrin homology domain-containing family G member 7 isoform X1

  2. XM_047428868.1 → XP_047284824.1  pleckstrin homology domain-containing family G member 7 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    92680461..92750036
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372078.1 → XP_054228053.1  pleckstrin homology domain-containing family G member 7 isoform X1

  2. XM_054372079.1 → XP_054228054.1  pleckstrin homology domain-containing family G member 7 isoform X2

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZR37.2 GenPept UniProtKB/Swiss-Prot:Q6ZR37

Gene LinkOut

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