Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 130271, updated on 5-Nov-2017
    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; Vega:OTTHUMG00000128657
    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
    Orthologs
    Location:
    2p21
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (43637300..43767987)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (43864439..43995126)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene THADA, armadillo repeat containing Neighboring gene RNA, U6 small nuclear 958, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 531, pseudogene Neighboring gene zinc finger protein 106 homolog (mouse) pseudogene Neighboring gene C1GALT1-specific chaperone 1 like Neighboring gene uncharacterized LOC105374571 Neighboring gene RNA, 7SK small nuclear pseudogene 66 Neighboring gene dynein cytoplasmic 2 light intermediate chain 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA2028

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    negative regulation of actin filament depolymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cortical actin cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    pleckstrin homology domain-containing family H member 2
    Names
    pleckstrin homology domain containing, family H (with MyTH4 domain) member 2

    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_172069.3NP_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)
      AL833400, BC031914, BC063310
      Consensus CDS
      CCDS1812.1
      UniProtKB/Swiss-Prot
      Q8IVE3
      Related
      ENSP00000282406.4, OTTHUMP00000158830, ENST00000282406.8, OTTHUMT00000250537
      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: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      43637300..43767987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003353.1XP_016858842.1  pleckstrin homology domain-containing family H member 2 isoform X3

      UniProtKB/Swiss-Prot
      Q8IVE3
      Conserved Domains (7) summary
      smart00139
      Location:392547
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00233
      Location:249351
      PH; Pleckstrin homology domain
      smart00295
      Location:560791
      B41; Band 4.1 homologues
      cd13206
      Location:787886
      FERM_C-lobe_PLEKHH1_PLEKHH2; FERM domain C-lobe of Pleckstrin homology domain-containing family H
      cd13282
      Location:143238
      PH1_PLEKHH1_PLEKHH2; Pleckstrin homology (PH) domain containing, family H (with MyTH4 domain) members 1 and 2 (PLEKHH1) PH domain, repeat 1
      pfam00169
      Location:141234
      PH; PH domain
      pfam00373
      Location:666791
      FERM_M; FERM central domain
    2. XM_017003352.1XP_016858841.1  pleckstrin homology domain-containing family H member 2 isoform X2

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

    RNA

    1. XR_426981.2 RNA Sequence

    2. XR_001738622.1 RNA Sequence

    3. XR_939657.2 RNA Sequence

    4. XR_001738620.1 RNA Sequence

    5. XR_001738621.1 RNA Sequence

      Related
      ENST00000405223.6

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      43794022..43924517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center