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

    Gene ID: 130271, updated on 7-Apr-2024

    Summary

    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, Apr 2022]
    Expression
    Broad expression in lung (RPKM 15.4), endometrium (RPKM 10.8) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PLEKHH2 in Genome Data Viewer
    Location:
    2p21
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (43637260..43767987)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (43642678..43773318)
    105.20220307 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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_172069.4NP_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:322410
      Agro_virD5; Agrobacterium VirD5 protein
      smart00139
      Location:9551110
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00233
      Location:812914
      PH; Pleckstrin homology domain
      smart00295
      Location:11231354
      B41; Band 4.1 homologues
      cd13206
      Location:13501449
      FERM_C-lobe_PLEKHH1_PLEKHH2; FERM domain C-lobe of Pleckstrin homology domain-containing family H
      cd13282
      Location:706801
      PH1_PLEKHH1_PLEKHH2; Pleckstrin homology (PH) domain containing, family H (with MyTH4 domain) members 1 and 2 (PLEKHH1) PH domain, repeat 1
      pfam00169
      Location:704797
      PH; PH domain
      pfam00373
      Location:12291354
      FERM_M; FERM central domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

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

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

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

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

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

      Conserved Domains (6) summary
      smart00139
      Location:8901045
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00233
      Location:747849
      PH; Pleckstrin homology domain
      smart00295
      Location:10581289
      B41; Band 4.1 homologues
      cd13206
      Location:12851384
      FERM_C-lobe_PLEKHH1_PLEKHH2; FERM domain C-lobe of Pleckstrin homology domain-containing family H
      cd13282
      Location:641736
      PH1_PLEKHH1_PLEKHH2; Pleckstrin homology (PH) domain containing, family H (with MyTH4 domain) members 1 and 2 (PLEKHH1) PH domain, repeat 1
      cl26511
      Location:2213
      Neuromodulin_N; Gap junction protein N-terminal region
    7. XM_047443342.1XP_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_054340523.1XP_054196498.1  pleckstrin homology domain-containing family H member 2 isoform X3

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

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

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

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

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

    7. XM_054340526.1XP_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