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    PLEKHA2 pleckstrin homology domain containing A2 [ Homo sapiens (human) ]

    Gene ID: 59339, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PLEKHA2provided by HGNC
    Official Full Name
    pleckstrin homology domain containing A2provided by HGNC
    Primary source
    HGNC:HGNC:14336
    See related
    Ensembl:ENSG00000169499 MIM:607773; AllianceGenome:HGNC:14336
    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
    TAPP2
    Summary
    Enables fibronectin binding activity; laminin binding activity; and phosphatidylinositol-3,4-bisphosphate binding activity. Involved in positive regulation of cell-matrix adhesion. Located in cytoplasm and membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in lymph node (RPKM 32.5), spleen (RPKM 19.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLEKHA2 in Genome Data Viewer
    Location:
    8p11.22
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (38901346..38973912)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (39178051..39251053)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (38758864..38831431)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:38558842-38559342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38577151-38577672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27256 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:38591927-38592426 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:38593007-38593506 Neighboring gene Sharpr-MPRA regulatory region 10821 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19135 Neighboring gene transforming acidic coiled-coil containing protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19136 Neighboring gene Sharpr-MPRA regulatory region 13542 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:38654374-38654912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27262 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:38664233-38664424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38692400-38693183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27263 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:38719299-38719799 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:38718798-38719298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:38721554-38722054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:38722055-38722555 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:38724712-38725911 Neighboring gene uncharacterized LOC124901937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27266 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27267 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38771665-38772346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38793869-38794549 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38794550-38795229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27271 Neighboring gene Sharpr-MPRA regulatory region 15086 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38853156-38853678 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38853679-38854200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27275 Neighboring gene HtrA serine peptidase 4 Neighboring gene TM2 domain containing 2 Neighboring gene ADAM metallopeptidase domain 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The tandem PH domain-containing protein 2 (TAPP2) regulates chemokine-induced cytoskeletal reorganization and malignant B cell migration. Li H, et al. PLoS One, 2013. PMID 23460911, Free PMC Article
    2. Evidence that the tandem-pleckstrin-homology-domain-containing protein TAPP1 interacts with Ptd(3,4)P2 and the multi-PDZ-domain-containing protein MUPP1 in vivo. Kimber WA, et al. Biochem J, 2002 Feb 1. PMID 11802782, Free PMC Article
    3. Interaction of the protein tyrosine phosphatase PTPL1 with the PtdIns(3,4)P2-binding adaptor protein TAPP1. Kimber WA, et al. Biochem J, 2003 Dec 1. PMID 14516276, Free PMC Article
    4. Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. Dowler S, et al. Biochem J, 2000 Oct 1. PMID 11001876, Free PMC Article
    5. TAPP2 links phosphoinositide 3-kinase signaling to B-cell adhesion through interaction with the cytoskeletal protein utrophin: expression of a novel cell adhesion-promoting complex in B-cell leukemia. Costantini JL, et al. Blood, 2009 Nov 19. PMID 19786618

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study identified TAPP2 as a novel regulator of malignant B cell migration.
      Title: The tandem PH domain-containing protein 2 (TAPP2) regulates chemokine-induced cytoskeletal reorganization and malignant B cell migration.
    2. 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.
    3. These findings identify TAPP2 as a novel link between PI3K signaling and the cytoskeleton with potential relevance for leukemia progression.
      Title: TAPP2 links phosphoinositide 3-kinase signaling to B-cell adhesion through interaction with the cytoskeletal protein utrophin: expression of a novel cell adhesion-promoting complex in B-cell leukemia.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25921

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables PDZ domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables fibronectin binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables laminin binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables phosphatidylinositol-3,4-bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3,4-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of cell-matrix adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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 membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family A member 2
    Names
    PH domain-containing family A member 2
    TAPP-2
    pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2
    tandem PH Domain containing protein-2
    tandem PH domain-containing protein 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_001410925.1 → NP_001397854.1  pleckstrin homology domain-containing family A member 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC067817, AC108863, KF495718
      Consensus CDS
      CCDS94287.1
      UniProtKB/TrEMBL
      A0A087WZ32, B4DJG5
      Related
      ENSP00000482319.1, ENST00000616927.4

    2. NM_021623.2 → NP_067636.1  pleckstrin homology domain-containing family A member 2 isoform 1

      See identical proteins and their annotated locations for NP_067636.1

      Status: VALIDATED

      Source sequence(s)
      AA985353, AC108863, AF286164, AK098787, BQ025762, DC332022
      Consensus CDS
      CCDS75732.1
      UniProtKB/Swiss-Prot
      A8K727, Q9HB19
      UniProtKB/TrEMBL
      A0A087X038
      Related
      ENSP00000482228.1, ENST00000617275.5
      Conserved Domains (3) summary
      cd13270
      Location:1 → 119
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:192 → 307
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      pfam00169
      Location:199 → 297
      PH; PH 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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      38901346..38973912
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422067.1 → XP_047278023.1  pleckstrin homology domain-containing family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K727, Q9HB19
      UniProtKB/TrEMBL
      A0A087X038
      Related
      ENSP00000483078.1, ENST00000616834.1

    2. XM_011544607.4 → XP_011542909.1  pleckstrin homology domain-containing family A member 2 isoform X1

      See identical proteins and their annotated locations for XP_011542909.1

      UniProtKB/Swiss-Prot
      A8K727, Q9HB19
      UniProtKB/TrEMBL
      A0A087X038
      Conserved Domains (3) summary
      cd13270
      Location:1 → 119
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:192 → 307
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      pfam00169
      Location:199 → 297
      PH; PH domain

    3. XM_011544605.4 → XP_011542907.1  pleckstrin homology domain-containing family A member 2 isoform X1

      See identical proteins and their annotated locations for XP_011542907.1

      UniProtKB/Swiss-Prot
      A8K727, Q9HB19
      UniProtKB/TrEMBL
      A0A087X038
      Conserved Domains (3) summary
      cd13270
      Location:1 → 119
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:192 → 307
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      pfam00169
      Location:199 → 297
      PH; PH domain

    4. XM_024447227.2 → XP_024302995.1  pleckstrin homology domain-containing family A member 2 isoform X2

      UniProtKB/TrEMBL
      A0A087X038
      Conserved Domains (2) summary
      cd13270
      Location:1 → 119
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:143 → 258
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

    5. XM_047422068.1 → XP_047278024.1  pleckstrin homology domain-containing family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K727, Q9HB19
      UniProtKB/TrEMBL
      A0A087X038

    6. XM_011544606.3 → XP_011542908.1  pleckstrin homology domain-containing family A member 2 isoform X1

      See identical proteins and their annotated locations for XP_011542908.1

      UniProtKB/Swiss-Prot
      A8K727, Q9HB19
      UniProtKB/TrEMBL
      A0A087X038
      Conserved Domains (3) summary
      cd13270
      Location:1 → 119
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:192 → 307
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      pfam00169
      Location:199 → 297
      PH; PH domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      39178051..39251053
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360952.1 → XP_054216927.1  pleckstrin homology domain-containing family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K727, Q9HB19
      UniProtKB/TrEMBL
      A0A087X038

    2. XM_054360951.1 → XP_054216926.1  pleckstrin homology domain-containing family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K727, Q9HB19
      UniProtKB/TrEMBL
      A0A087X038

    3. XM_054360955.1 → XP_054216930.1  pleckstrin homology domain-containing family A member 2 isoform X3

      UniProtKB/TrEMBL
      A0A087WZ32, B4DJG5

    4. XM_054360946.1 → XP_054216921.1  pleckstrin homology domain-containing family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K727, Q9HB19
      UniProtKB/TrEMBL
      A0A087X038

    5. XM_054360949.1 → XP_054216924.1  pleckstrin homology domain-containing family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K727, Q9HB19
      UniProtKB/TrEMBL
      A0A087X038

    6. XM_054360948.1 → XP_054216923.1  pleckstrin homology domain-containing family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K727, Q9HB19
      UniProtKB/TrEMBL
      A0A087X038

    7. XM_054360953.1 → XP_054216928.1  pleckstrin homology domain-containing family A member 2 isoform X2

      UniProtKB/TrEMBL
      A0A087X038

    8. XM_054360954.1 → XP_054216929.1  pleckstrin homology domain-containing family A member 2 isoform X3

      UniProtKB/TrEMBL
      A0A087WZ32, B4DJG5

    9. XM_054360947.1 → XP_054216922.1  pleckstrin homology domain-containing family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K727, Q9HB19
      UniProtKB/TrEMBL
      A0A087X038

    10. XM_054360950.1 → XP_054216925.1  pleckstrin homology domain-containing family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K727, Q9HB19
      UniProtKB/TrEMBL
      A0A087X038

    11. XM_054360956.1 → XP_054216931.1  pleckstrin homology domain-containing family A member 2 isoform X4

      UniProtKB/TrEMBL
      B4DJG5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HB19.3 GenPept UniProtKB/Swiss-Prot:Q9HB19

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