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

Gene ID: 59339, updated on 3-Apr-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, Apr 2022]
Expression
Broad expression in lymph node (RPKM 32.5), spleen (RPKM 19.2) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
8p11.22
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (38901346..38973912)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (39178051..39251053)
105.20220307 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: 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. 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 (25) 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)

Genotypes

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 IBA
Inferred from Biological aspect of Ancestor
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 lipid binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylinositol-3,4-bisphosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
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 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
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
    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_2023_10

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
    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

  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

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

    UniProtKB/Swiss-Prot
    A8K727, Q9HB19

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

    UniProtKB/TrEMBL
    A0A087WZ32

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

    UniProtKB/Swiss-Prot
    A8K727, Q9HB19

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

    UniProtKB/Swiss-Prot
    A8K727, Q9HB19

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

    UniProtKB/Swiss-Prot
    A8K727, Q9HB19

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

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

    UniProtKB/TrEMBL
    A0A087WZ32

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

    UniProtKB/Swiss-Prot
    A8K727, Q9HB19

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

    UniProtKB/Swiss-Prot
    A8K727, Q9HB19

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

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

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