Entry - *104776 - AMYLOID BETA A4 PRECURSOR-LIKE PROTEIN 2; APLP2 - OMIM
 
* 104776

AMYLOID BETA A4 PRECURSOR-LIKE PROTEIN 2; APLP2


Alternative titles; symbols

AMYLOID PRECURSOR-LIKE PROTEIN 2
CDEI-BINDING PROTEIN; CDEBP
SPERM MEMBRANE PROTEIN


HGNC Approved Gene Symbol: APLP2

Cytogenetic location: 11q24.3     Genomic coordinates (GRCh38): 11:130,069,894-130,144,805 (from NCBI)


TEXT

Description

The human amyloid precursor-like protein APLP2 is a highly conserved homolog of a sequence-specific DNA-binding mouse protein with an important function in the cell cycle (summary by von der Kammer et al., 1994).


Cloning and Expression

Yan et al. (1990) cloned a cDNA that encoded a human sperm membrane protein identified by a monoclonal antibody raised against this protein and designated YWK-II. They found that the deduced polypeptide contains a segment with high homology to the transmembrane-cytoplasmic domains of the A4 amyloid protein (APP; 104760) found in brain plaques of Alzheimer disease patients. Rather than the lys-lys-lys sequence found in the A4 protein, an arg-lys-arg sequence was found at the probable membrane-cytoplasmic junction that may represent a unique property of sperm membrane proteins.

Yang et al. (1996) isolated the homologous mouse gene, which has also been called Cdebp. The protein binds to the DNA motif GTCACATG, which is identical to the yeast centromeric element, CDEI.


Gene Structure

Yang et al. (1996) determined that the mouse Aplp2 gene contains 18 exons and is organized similarly to human APP. The promoter region was characterized and shown to lack either TATA or CAAT boxes.


Mapping

By study of somatic cell hybrids segregating human chromosomes, von der Kammer et al. (1994) mapped the APLP2 gene to chromosome 11; by fluorescence in situ hybridization, the assignment was confirmed and further localized to 11q23-q25. By FISH, Leach et al. (1999) mapped the APLP2 gene to 11q24.

Using interspecific mouse backcross mapping, von Koch et al. (1995) localized the mouse Aplp2 gene to the proximal region of mouse chromosome 9, syntenic with the region of human 11q.

Yang et al. (1996) mapped the mouse Aplp2 gene to A2-B region of mouse chromosome 9 by in situ hybridization.


REFERENCES

  1. Leach, R., Ko, M., Krawetz, S. A. Assignment of amyloid-precursor-like protein 2 gene (APLP2) to 11q24 by fluorescent in situ hybridization. Cytogenet. Cell Genet. 87: 215-216, 1999. [PubMed: 10702673, related citations] [Full Text]

  2. von der Kammer, H., Loffler, C., Hanes, J., Klaudiny, J., Scheit, K. H., Hansmann, I. The gene for the amyloid precursor-like protein APLP2 is assigned to human chromosome 11q23-25. Genomics 20: 308-311, 1994. [PubMed: 8020984, related citations] [Full Text]

  3. von Koch, C. S., Lahiri, D. K., Mammen, A. L., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Sisodia, S. S. The mouse APLP2 gene: chromosomal localization and promoter characterization. J. Biol. Chem. 270: 25475-25480, 1995. [PubMed: 7592716, related citations] [Full Text]

  4. Yan, Y. C., Bai, Y., Wang, L., Miao, S., Koide, S. S. Characterization of cDNA encoding a human sperm membrane protein related to A4 amyloid protein. Proc. Nat. Acad. Sci. 87: 2405-2408, 1990. [PubMed: 1690887, related citations] [Full Text]

  5. Yang, Y., Martin, L., Cuzin, F., Mattei, M.-G., Rassoulzadegan, M. Genomic structure and chromosomal localization of the mouse CDEI-binding protein CDEBP (APLP2) gene and promoter sequences. Genomics 35: 24-29, 1996. [PubMed: 8661100, related citations] [Full Text]


Carol A. Bocchini - updated : 10/13/2000
Alan F. Scott - updated : 8/22/1996
Creation Date:
Victor A. McKusick : 4/4/1994
alopez : 07/17/2012
alopez : 7/16/2012
terry : 10/16/2000
carol : 10/13/2000
carol : 10/11/1999
alopez : 6/10/1998
jenny : 7/9/1997
mark : 8/22/1996
marlene : 8/20/1996
mark : 1/28/1996
terry : 1/23/1996
pfoster : 9/12/1994
carol : 4/4/1994

* 104776

AMYLOID BETA A4 PRECURSOR-LIKE PROTEIN 2; APLP2


Alternative titles; symbols

AMYLOID PRECURSOR-LIKE PROTEIN 2
CDEI-BINDING PROTEIN; CDEBP
SPERM MEMBRANE PROTEIN


HGNC Approved Gene Symbol: APLP2

Cytogenetic location: 11q24.3     Genomic coordinates (GRCh38): 11:130,069,894-130,144,805 (from NCBI)


TEXT

Description

The human amyloid precursor-like protein APLP2 is a highly conserved homolog of a sequence-specific DNA-binding mouse protein with an important function in the cell cycle (summary by von der Kammer et al., 1994).


Cloning and Expression

Yan et al. (1990) cloned a cDNA that encoded a human sperm membrane protein identified by a monoclonal antibody raised against this protein and designated YWK-II. They found that the deduced polypeptide contains a segment with high homology to the transmembrane-cytoplasmic domains of the A4 amyloid protein (APP; 104760) found in brain plaques of Alzheimer disease patients. Rather than the lys-lys-lys sequence found in the A4 protein, an arg-lys-arg sequence was found at the probable membrane-cytoplasmic junction that may represent a unique property of sperm membrane proteins.

Yang et al. (1996) isolated the homologous mouse gene, which has also been called Cdebp. The protein binds to the DNA motif GTCACATG, which is identical to the yeast centromeric element, CDEI.


Gene Structure

Yang et al. (1996) determined that the mouse Aplp2 gene contains 18 exons and is organized similarly to human APP. The promoter region was characterized and shown to lack either TATA or CAAT boxes.


Mapping

By study of somatic cell hybrids segregating human chromosomes, von der Kammer et al. (1994) mapped the APLP2 gene to chromosome 11; by fluorescence in situ hybridization, the assignment was confirmed and further localized to 11q23-q25. By FISH, Leach et al. (1999) mapped the APLP2 gene to 11q24.

Using interspecific mouse backcross mapping, von Koch et al. (1995) localized the mouse Aplp2 gene to the proximal region of mouse chromosome 9, syntenic with the region of human 11q.

Yang et al. (1996) mapped the mouse Aplp2 gene to A2-B region of mouse chromosome 9 by in situ hybridization.


REFERENCES

  1. Leach, R., Ko, M., Krawetz, S. A. Assignment of amyloid-precursor-like protein 2 gene (APLP2) to 11q24 by fluorescent in situ hybridization. Cytogenet. Cell Genet. 87: 215-216, 1999. [PubMed: 10702673] [Full Text: https://doi.org/10.1159/000015472]

  2. von der Kammer, H., Loffler, C., Hanes, J., Klaudiny, J., Scheit, K. H., Hansmann, I. The gene for the amyloid precursor-like protein APLP2 is assigned to human chromosome 11q23-25. Genomics 20: 308-311, 1994. [PubMed: 8020984] [Full Text: https://doi.org/10.1006/geno.1994.1174]

  3. von Koch, C. S., Lahiri, D. K., Mammen, A. L., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Sisodia, S. S. The mouse APLP2 gene: chromosomal localization and promoter characterization. J. Biol. Chem. 270: 25475-25480, 1995. [PubMed: 7592716] [Full Text: https://doi.org/10.1074/jbc.270.43.25475]

  4. Yan, Y. C., Bai, Y., Wang, L., Miao, S., Koide, S. S. Characterization of cDNA encoding a human sperm membrane protein related to A4 amyloid protein. Proc. Nat. Acad. Sci. 87: 2405-2408, 1990. [PubMed: 1690887] [Full Text: https://doi.org/10.1073/pnas.87.7.2405]

  5. Yang, Y., Martin, L., Cuzin, F., Mattei, M.-G., Rassoulzadegan, M. Genomic structure and chromosomal localization of the mouse CDEI-binding protein CDEBP (APLP2) gene and promoter sequences. Genomics 35: 24-29, 1996. [PubMed: 8661100] [Full Text: https://doi.org/10.1006/geno.1996.0318]


Contributors:
Carol A. Bocchini - updated : 10/13/2000
Alan F. Scott - updated : 8/22/1996

Creation Date:
Victor A. McKusick : 4/4/1994

Edit History:
alopez : 07/17/2012
alopez : 7/16/2012
terry : 10/16/2000
carol : 10/13/2000
carol : 10/11/1999
alopez : 6/10/1998
jenny : 7/9/1997
mark : 8/22/1996
marlene : 8/20/1996
mark : 1/28/1996
terry : 1/23/1996
pfoster : 9/12/1994
carol : 4/4/1994