Entry - *602309 - TUB-LIKE PROTEIN 2; TULP2 - OMIM

 
 
* 602309

TUB-LIKE PROTEIN 2; TULP2


Alternative titles; symbols

TUBBY-LIKE PROTEIN 2


HGNC Approved Gene Symbol: TULP2

Cytogenetic location: 19q13.33     Genomic coordinates (GRCh38): 19:48,880,967-48,898,744 (from NCBI)


TEXT

▼ Cloning and Expression

Members of a family of genes with sequence similarity to the TUB gene (601197) have been identified in plants, vertebrates, and invertebrates. North et al. (1997) identified 2 members of this family, tubby-like protein-1 (TULP1; 602280) and -2 (TULP2). All 3 genes encode proteins with different N termini but with conserved C-terminal regions (63 to 90% amino acid identity) of approximately 200 amino acid residues. They also have distinct tissue expression patterns; TUB is expressed in many tissues including retina, whereas TULP1 is expressed exclusively in retina and TULP2 in retina and testis.


▼ Mapping

North et al. (1997) mapped the TULP2 gene to chromosome 19q13.1 by radiation hybrid analysis.


▼ REFERENCES

  1. North, M. A., Naggert, J. K., Yan, Y., Noben-Trauth, K., Nishina, P. M. Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. Proc. Nat. Acad. Sci. 94: 3128-3133, 1997. [PubMed: 9096357, images, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 2/1/1998
Edit History:
mgross : 07/19/2021
carol : 04/15/2014
mark : 2/1/1998
mark : 2/1/1998

* 602309

TUB-LIKE PROTEIN 2; TULP2


Alternative titles; symbols

TUBBY-LIKE PROTEIN 2


HGNC Approved Gene Symbol: TULP2

Cytogenetic location: 19q13.33     Genomic coordinates (GRCh38): 19:48,880,967-48,898,744 (from NCBI)


TEXT

Cloning and Expression

Members of a family of genes with sequence similarity to the TUB gene (601197) have been identified in plants, vertebrates, and invertebrates. North et al. (1997) identified 2 members of this family, tubby-like protein-1 (TULP1; 602280) and -2 (TULP2). All 3 genes encode proteins with different N termini but with conserved C-terminal regions (63 to 90% amino acid identity) of approximately 200 amino acid residues. They also have distinct tissue expression patterns; TUB is expressed in many tissues including retina, whereas TULP1 is expressed exclusively in retina and TULP2 in retina and testis.


Mapping

North et al. (1997) mapped the TULP2 gene to chromosome 19q13.1 by radiation hybrid analysis.


REFERENCES

  1. North, M. A., Naggert, J. K., Yan, Y., Noben-Trauth, K., Nishina, P. M. Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. Proc. Nat. Acad. Sci. 94: 3128-3133, 1997. [PubMed: 9096357] [Full Text: https://doi.org/10.1073/pnas.94.7.3128]


Creation Date:
Victor A. McKusick : 2/1/1998

Edit History:
mgross : 07/19/2021
carol : 04/15/2014
mark : 2/1/1998
mark : 2/1/1998



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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