Entry - *603580 - PROTOCADHERIN 8; PCDH8 - OMIM

 
 
* 603580

PROTOCADHERIN 8; PCDH8


HGNC Approved Gene Symbol: PCDH8

Cytogenetic location: 13q14.3     Genomic coordinates (GRCh38): 13:52,842,889-52,848,640 (from NCBI)


TEXT

▼ Description

The protocadherins are a subfamily of calcium-dependent cell adhesion and recognition proteins of the cadherin superfamily. See 602988. Protocadherin-8 belongs to a subclass of protocadherins that share a highly conserved 17-amino acid cytoplasmic motif (Wolverton and Lalande, 2001).


▼ Cloning and Expression

During a screen for genes in the 13q14.3-q21.1 region, Strehl et al. (1998) identified an exonic region encoding a cadherin-related protein. The full-length PCDH8 sequence encodes a 936-amino acid polypeptide with a single putative transmembrane domain and 6 cadherin repeats. Genomic analysis demonstrated that PCDH8 is encoded by 3 exons spanning 5 kb of genomic DNA. Northern blot analysis revealed that PCDH8 is expressed as a 4-kb mRNA exclusively in fetal and adult brain.


▼ Mapping

By inclusion in a PAC/BAC contig on human chromosome 13, Strehl et al. (1997) determined that the PCDH8 gene maps to the band boundary region between 13q14.3 and 13q21.1, about 1 Mb distal to the ATP7B gene (606882), which is mutated in Wilson disease (277900). Strehl et al. (1998) localized the mouse Pcdh8 and Pcdh9 (603581) genes to the distal part of chromosome 14, in a region of known homology of synteny with human 13q14.3.


▼ REFERENCES

  1. Strehl, S., Glatt, K., Liu, Q. M., Glatt, H., Lalande, M. Characterization of two novel protocadherins (PCDH8 and PCDH9) localized on human chromosome 13 and mouse chromosome 14. Genomics 53: 81-89, 1998. [PubMed: 9787079, related citations] [Full Text]

  2. Strehl, S., LaSalle, J. M., Lalande, M. High-resolution analysis of DNA replication domain organization across an R/G-band boundary. Molec. Cell. Biol. 17: 6157-6166, 1997. [PubMed: 9315676, related citations] [Full Text]

  3. Wolverton, T., Lalande, M. Identification and characterization of three members of a novel subclass of protocadherins. Genomics 76: 66-72, 2001. [PubMed: 11549318, related citations] [Full Text]


Contributors:
Carol A. Bocchini - updated : 11/26/2003
Creation Date:
Jennifer P. Macke : 2/23/1999
Edit History:
carol : 11/26/2003
carol : 4/29/2002
alopez : 2/24/1999
alopez : 2/23/1999

* 603580

PROTOCADHERIN 8; PCDH8


HGNC Approved Gene Symbol: PCDH8

Cytogenetic location: 13q14.3     Genomic coordinates (GRCh38): 13:52,842,889-52,848,640 (from NCBI)


TEXT

Description

The protocadherins are a subfamily of calcium-dependent cell adhesion and recognition proteins of the cadherin superfamily. See 602988. Protocadherin-8 belongs to a subclass of protocadherins that share a highly conserved 17-amino acid cytoplasmic motif (Wolverton and Lalande, 2001).


Cloning and Expression

During a screen for genes in the 13q14.3-q21.1 region, Strehl et al. (1998) identified an exonic region encoding a cadherin-related protein. The full-length PCDH8 sequence encodes a 936-amino acid polypeptide with a single putative transmembrane domain and 6 cadherin repeats. Genomic analysis demonstrated that PCDH8 is encoded by 3 exons spanning 5 kb of genomic DNA. Northern blot analysis revealed that PCDH8 is expressed as a 4-kb mRNA exclusively in fetal and adult brain.


Mapping

By inclusion in a PAC/BAC contig on human chromosome 13, Strehl et al. (1997) determined that the PCDH8 gene maps to the band boundary region between 13q14.3 and 13q21.1, about 1 Mb distal to the ATP7B gene (606882), which is mutated in Wilson disease (277900). Strehl et al. (1998) localized the mouse Pcdh8 and Pcdh9 (603581) genes to the distal part of chromosome 14, in a region of known homology of synteny with human 13q14.3.


REFERENCES

  1. Strehl, S., Glatt, K., Liu, Q. M., Glatt, H., Lalande, M. Characterization of two novel protocadherins (PCDH8 and PCDH9) localized on human chromosome 13 and mouse chromosome 14. Genomics 53: 81-89, 1998. [PubMed: 9787079] [Full Text: https://doi.org/10.1006/geno.1998.5467]

  2. Strehl, S., LaSalle, J. M., Lalande, M. High-resolution analysis of DNA replication domain organization across an R/G-band boundary. Molec. Cell. Biol. 17: 6157-6166, 1997. [PubMed: 9315676] [Full Text: https://doi.org/10.1128/MCB.17.10.6157]

  3. Wolverton, T., Lalande, M. Identification and characterization of three members of a novel subclass of protocadherins. Genomics 76: 66-72, 2001. [PubMed: 11549318] [Full Text: https://doi.org/10.1006/geno.2001.6592]


Contributors:
Carol A. Bocchini - updated : 11/26/2003

Creation Date:
Jennifer P. Macke : 2/23/1999

Edit History:
carol : 11/26/2003
carol : 4/29/2002
alopez : 2/24/1999
alopez : 2/23/1999



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 2, 2024