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    PLEKHH2 pleckstrin homology, MyTH4 and FERM domain containing H2 [ Homo sapiens (human) ]

    Gene ID: 130271, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PLEKHH2provided by HGNC
    Official Full Name
    pleckstrin homology, MyTH4 and FERM domain containing H2provided by HGNC
    Primary source
    HGNC:HGNC:30506
    See related
    Ensembl:ENSG00000152527 MIM:612723; AllianceGenome:HGNC:30506
    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
    PLEKHH1L
    Summary
    Predicted to enable actin binding activity. Predicted to be involved in negative regulation of actin filament depolymerization. Located in several cellular components, including cytosol; lamellipodium; and nuclear body. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lung (RPKM 15.4), endometrium (RPKM 10.8) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLEKHH2 in Genome Data Viewer
    Location:
    2p21
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (43637260..43767987)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (43642678..43773318)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (43864399..43995126)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene THADA armadillo repeat containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15673 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:43653235-43654434 Neighboring gene RNA, U6 small nuclear 958, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15679 Neighboring gene RNA, 7SL, cytoplasmic 531, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:43809645-43809864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11427 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:43892733-43893363 Neighboring gene Sharpr-MPRA regulatory region 13975 Neighboring gene zinc finger protein 106 homolog (mouse) pseudogene Neighboring gene C1GALT1 specific chaperone 1 like Neighboring gene ReSE screen-validated silencer GRCh37_chr2:43942164-43942363 Neighboring gene MPRA-validated peak3684 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr2:43973372-43973613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15680 Neighboring gene uncharacterized LOC105374571 Neighboring gene RN7SK pseudogene 66 Neighboring gene dynein cytoplasmic 2 light intermediate chain 1

    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. Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population. Greene CN, et al. Hum Genet, 2008 Oct. PMID 18752002
    2. Plekhh2, a novel podocyte protein downregulated in human focal segmental glomerulosclerosis, is involved in matrix adhesion and actin dynamics. Perisic L, et al. Kidney Int, 2012 Nov. PMID 22832517
    3. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). Zhu J, et al. Nat Biotechnol, 2013 Apr. PMID 23503679, Free PMC Article
    4. BioID-based Identification of Skp Cullin F-box (SCF)β-TrCP1/2 E3 Ligase Substrates. Coyaud E, et al. Mol Cell Proteomics, 2015 Jul. PMID 25900982, Free PMC Article
    5. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Suggest a structural and functional role for Plekhh2 in the podocyte foot processes.
      Title: Plekhh2, a novel podocyte protein downregulated in human focal segmental glomerulosclerosis, is involved in matrix adhesion and actin dynamics.
    2. PLEKHH2, which has mRNA and protein expression exclusively in the glomerulus, may be a genetic risk factor for susceptibility to diabetic nephropathy in the diabetic population
      Title: Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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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    Markers

    Homology

    Clone Names

    • KIAA2028

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of actin filament depolymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of actin filament depolymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cortical actin cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family H member 2
    Names
    pleckstrin homology domain containing, family H (with MyTH4 domain) member 2

    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_172069.4 → NP_742066.2  pleckstrin homology domain-containing family H member 2

      See identical proteins and their annotated locations for NP_742066.2

      Status: VALIDATED

      Source sequence(s)
      AC011242, AL833400, BC031914, BC063310
      Consensus CDS
      CCDS1812.1
      UniProtKB/Swiss-Prot
      Q5JPJ6, Q6P4Q1, Q8IVE3, Q8N3Q3
      Related
      ENSP00000282406.4, ENST00000282406.9
      Conserved Domains (8) summary
      smart00795
      Location:322 → 410
      Agro_virD5; Agrobacterium VirD5 protein
      smart00139
      Location:955 → 1110
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00233
      Location:812 → 914
      PH; Pleckstrin homology domain
      smart00295
      Location:1123 → 1354
      B41; Band 4.1 homologues
      cd13206
      Location:1350 → 1449
      FERM_C-lobe_PLEKHH1_PLEKHH2; FERM domain C-lobe of Pleckstrin homology domain-containing family H
      cd13282
      Location:706 → 801
      PH1_PLEKHH1_PLEKHH2; Pleckstrin homology (PH) domain containing, family H (with MyTH4 domain) members 1 and 2 (PLEKHH1) PH domain, repeat 1
      pfam00169
      Location:704 → 797
      PH; PH domain
      pfam00373
      Location:1229 → 1354
      FERM_M; FERM central domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      43637260..43767987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443340.1 → XP_047299296.1  pleckstrin homology domain-containing family H member 2 isoform X3

    2. XM_047443341.1 → XP_047299297.1  pleckstrin homology domain-containing family H member 2 isoform X4

    3. XM_017003352.2 → XP_016858841.1  pleckstrin homology domain-containing family H member 2 isoform X5

    4. XM_047443343.1 → XP_047299299.1  pleckstrin homology domain-containing family H member 2 isoform X7

    5. XM_017003351.3 → XP_016858840.1  pleckstrin homology domain-containing family H member 2 isoform X1

    6. XM_024452695.2 → XP_024308463.1  pleckstrin homology domain-containing family H member 2 isoform X2

      Conserved Domains (6) summary
      smart00139
      Location:890 → 1045
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00233
      Location:747 → 849
      PH; Pleckstrin homology domain
      smart00295
      Location:1058 → 1289
      B41; Band 4.1 homologues
      cd13206
      Location:1285 → 1384
      FERM_C-lobe_PLEKHH1_PLEKHH2; FERM domain C-lobe of Pleckstrin homology domain-containing family H
      cd13282
      Location:641 → 736
      PH1_PLEKHH1_PLEKHH2; Pleckstrin homology (PH) domain containing, family H (with MyTH4 domain) members 1 and 2 (PLEKHH1) PH domain, repeat 1
      cl26511
      Location:2 → 213
      Neuromodulin_N; Gap junction protein N-terminal region

    7. XM_047443342.1 → XP_047299298.1  pleckstrin homology domain-containing family H member 2 isoform X6

    RNA

    1. XR_001738621.2 RNA Sequence

    2. XR_001738620.2 RNA Sequence

      Related
      ENST00000405223.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      43642678..43773318
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340523.1 → XP_054196498.1  pleckstrin homology domain-containing family H member 2 isoform X3

    2. XM_054340524.1 → XP_054196499.1  pleckstrin homology domain-containing family H member 2 isoform X4

    3. XM_054340525.1 → XP_054196500.1  pleckstrin homology domain-containing family H member 2 isoform X5

    4. XM_054340527.1 → XP_054196502.1  pleckstrin homology domain-containing family H member 2 isoform X7

    5. XM_054340521.1 → XP_054196496.1  pleckstrin homology domain-containing family H member 2 isoform X1

    6. XM_054340522.1 → XP_054196497.1  pleckstrin homology domain-containing family H member 2 isoform X2

    7. XM_054340526.1 → XP_054196501.1  pleckstrin homology domain-containing family H member 2 isoform X6

    RNA

    1. XR_008486271.1 RNA Sequence

    2. XR_008486270.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IVE3.2 GenPept UniProtKB/Swiss-Prot:Q8IVE3

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