Entry - *607773 - PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 2; PLEKHA2 - OMIM
 
* 607773

PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 2; PLEKHA2


Alternative titles; symbols

TANDEM PH DOMAIN-CONTAINING PROTEIN 2; TAPP2


HGNC Approved Gene Symbol: PLEKHA2

Cytogenetic location: 8p11.22     Genomic coordinates (GRCh38): 8:38,901,346-38,973,912 (from NCBI)


TEXT

Cloning and Expression

By searching EST databases for proteins containing a putative phosphatidylinositol 3,4,5-trisphosphate-binding motif (PPBM), Dowler et al. (2000) identified PLEKHA2, which they designated TAPP2. They obtained a partial human clone of TAPP2 and a full-length mouse clone. Mouse Tapp2 contains 2 pleckstrin homology (PH) domains, the second of which contains the PPBM. It also has 2 proline-rich regions at its C terminus that could form SH3-binding sites, and its last 3 C-terminal amino acids are predicted to interact with PDZ domain-containing proteins. TAPP2 and TAPP1 (607772) share 58% identity over the first 300 amino acids, which encompass both PH domains. There is little homology between the C termini. Northern blot analysis detected a 6.0-kb transcript expressed in all human tissues examined, with highest levels in heart and kidney.


Gene Function

Dowler et al. (2000) determined that full-length TAPP2 and the isolated C-terminal PH domain of TAPP2 interacted with phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2), but not with any other phosphoinositides tested. TAPP1 possessed a 5-fold higher affinity for PtdIns(3,4)P2 than TAPP2.


Mapping

Stumpf (2024) mapped the PLEKHA2 gene to chromosome 8p11.22 based on an alignment of the PLEKHA2 sequence (GenBank BC166639) with the genomic sequence (GRCh38).


REFERENCES

  1. Dowler, S., Currie, R. A., Campbell, D. G., Deak, M., Kular, G., Downes, C. P., Alessi, D. R. Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. Biochem. J. 351: 19-31, 2000. [PubMed: 11001876, related citations] [Full Text]

  2. Stumpf, A. M. Personal Communication. Baltimore, Md. 01/03/2024.


Contributors:
Anne M. Stumpf - updated : 01/03/2024
Creation Date:
Patricia A. Hartz : 5/8/2003
alopez : 01/03/2024
mgross : 05/09/2003

* 607773

PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 2; PLEKHA2


Alternative titles; symbols

TANDEM PH DOMAIN-CONTAINING PROTEIN 2; TAPP2


HGNC Approved Gene Symbol: PLEKHA2

Cytogenetic location: 8p11.22     Genomic coordinates (GRCh38): 8:38,901,346-38,973,912 (from NCBI)


TEXT

Cloning and Expression

By searching EST databases for proteins containing a putative phosphatidylinositol 3,4,5-trisphosphate-binding motif (PPBM), Dowler et al. (2000) identified PLEKHA2, which they designated TAPP2. They obtained a partial human clone of TAPP2 and a full-length mouse clone. Mouse Tapp2 contains 2 pleckstrin homology (PH) domains, the second of which contains the PPBM. It also has 2 proline-rich regions at its C terminus that could form SH3-binding sites, and its last 3 C-terminal amino acids are predicted to interact with PDZ domain-containing proteins. TAPP2 and TAPP1 (607772) share 58% identity over the first 300 amino acids, which encompass both PH domains. There is little homology between the C termini. Northern blot analysis detected a 6.0-kb transcript expressed in all human tissues examined, with highest levels in heart and kidney.


Gene Function

Dowler et al. (2000) determined that full-length TAPP2 and the isolated C-terminal PH domain of TAPP2 interacted with phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2), but not with any other phosphoinositides tested. TAPP1 possessed a 5-fold higher affinity for PtdIns(3,4)P2 than TAPP2.


Mapping

Stumpf (2024) mapped the PLEKHA2 gene to chromosome 8p11.22 based on an alignment of the PLEKHA2 sequence (GenBank BC166639) with the genomic sequence (GRCh38).


REFERENCES

  1. Dowler, S., Currie, R. A., Campbell, D. G., Deak, M., Kular, G., Downes, C. P., Alessi, D. R. Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. Biochem. J. 351: 19-31, 2000. [PubMed: 11001876] [Full Text: https://doi.org/10.1042/0264-6021:3510019]

  2. Stumpf, A. M. Personal Communication. Baltimore, Md. 01/03/2024.


Contributors:
Anne M. Stumpf - updated : 01/03/2024

Creation Date:
Patricia A. Hartz : 5/8/2003

Edit History:
alopez : 01/03/2024
mgross : 05/09/2003