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

Gene ID: 130271, updated on 2-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 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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