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

    Gene ID: 440107, updated on 27-Aug-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
    mouse all
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    Genomic context

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    Location:
    12q22
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (92702989..92772455)
    RS_2024_08 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 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)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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