Entry - *182137 - 5-HYDROXYTRYPTAMINE RECEPTOR 7; HTR7 - OMIM
 
* 182137

5-HYDROXYTRYPTAMINE RECEPTOR 7; HTR7


Alternative titles; symbols

SEROTONIN 5-HT-7 RECEPTOR


HGNC Approved Gene Symbol: HTR7

Cytogenetic location: 10q23.31     Genomic coordinates (GRCh38): 10:90,740,823-90,858,039 (from NCBI)


TEXT

Description

HTR7 is a G protein-coupled receptor for serotonin (Ruat et al., 1993; Bard et al., 1993).

For background information on 5-hydroxytryptamine (5-HT; serotonin) receptors, see 182131.


Cloning and Expression

Ruat et al. (1993) reported the characterization of a novel 5-HT receptor belonging to the superfamily of G protein-coupled receptors, for which they proposed the name 5-HT7 (Kenakin et al., 1992). From its molecular, pharmacologic, and signaling properties, it appeared that the 5-HT7 receptor defined another subfamily of mammalian 5-HT receptors.

Bard et al. (1993) cloned a full-length human HTR7 cDNA from a fetal brain cDNA library. The deduced 445-amino acid HTR7 protein has a relative molecular mass of approximately 49 kD. RT-PCR analysis detected predominant expression of HTR7 in human brain but also in a subset of peripheral tissues including coronary artery, kidney, liver, pancreas, and spleen.

Heidmann et al. (1997) identified at least 4 human HTR7 isoforms predicted to differ in their C-terminal ends. They found that 1 of the isoforms was relatively more prominent in spleen than in brain.

Tsou et al. (1994) cloned the gene from guinea pig hippocampus.


Gene Function

Using transient expression studies in COS-7 cells, Bard et al. (1993) demonstrated functional coupling of HTR7 to adenylate cyclase activation.


Mapping

Gelernter et al. (1995) tentatively assigned the HTR7 gene to chromosome 10 by Southern analysis of somatic cell hybrids. They then identified a genetic polymorphism at the HTR7 locus and studied its linkage with D10S20. Gelernter et al. (1995) assigned the gene to 10q21-q24 based on a lod score of 5.37 at 0% recombination between HTR7 and D10S20. They excluded genetic linkage between HTR7 and Tourette syndrome (137580). By radiation hybrid analysis, Lassig et al. (1999) confirmed localization of the HTR7 gene to 10q23. The authors also noted a pseudogene on 12p13.


REFERENCES

  1. Bard, J. A., Zgombick, J., Adham, N., Vaysse, P., Branchek, T. A., Weinshank, R. L. Cloning of a novel human serotonin receptor (5-HT-7) positively linked to adenylate cyclase. J. Biol. Chem. 268: 23422-23426, 1993. [PubMed: 8226867, related citations]

  2. Gelernter, J., Rao, P. A., Pauls, D. L., Hamblin, M. W., Sibley, D. R., Kidd, K. K. Assignment of the 5HT7 receptor gene (HTR7) to chromosome 10q and exclusion of genetic linkage with Tourette syndrome. Genomics 26: 207-209, 1995. [PubMed: 7601444, related citations] [Full Text]

  3. Heidmann, D. E. A., Metcalf, M. A., Kohen, R., Hamblin, M. W. Four 5-hydroxytryptamine-7 (5-HT7) receptor isoforms in human and rat produced by alternative splicing: species differences due to altered intron-exon organization. J. Neurochem. 68: 1372-1381, 1997. [PubMed: 9084407, related citations] [Full Text]

  4. Kenakin, T. P., Bond, R. A., Bonner, T. I. II. Definition of pharmacological receptors. Pharm. Rev. 44: 351-362, 1992. [PubMed: 1438521, related citations]

  5. Lassig, J. P., Vachirasomtoon, K., Hartzell, K., Leventhal, M., Courchesne, E., Courchesne, R., Lord, C., Leventhal, B. L., Cook, E. H., Jr. Physical mapping of the serotonin 5-HT(7) receptor gene (HTR7) to chromosome 10 and pseudogene (HTR7P) to chromosome 12, and testing of linkage disequilibrium between HTR7 and autistic disorder. Am. J. Med. Genet. 88: 472-475, 1999. [PubMed: 10490701, related citations] [Full Text]

  6. Ruat, M., Traiffort, E., Leurs, R., Tardivel-Lacombe, J., Diaz, J., Arrang, J.-M., Schwartz, J.-C. Molecular cloning, characterization, and localization of a high-affinity serotonin receptor (5-HT-7) activating cAMP formation. Proc. Nat. Acad. Sci. 90: 8547-8551, 1993. [PubMed: 8397408, related citations] [Full Text]

  7. Tsou, A., Kosaka, A., Bach, C., Zuppan, P., Yee, C., Tom, L., Alvarez, R., Ramsey, S., Bonhaus, D. W., Stefanich, E., Jakeman, L., Eglen, R. M., Chan, H. W. Cloning and expression of a 5-hydroxytryptamine-7 receptor positively coupled to adenylyl cyclase. J. Neurochem. 63: 456-464, 1994. [PubMed: 7518496, related citations] [Full Text]


Contributors:
Ada Hamosh - updated : 11/2/1999
Creation Date:
Victor A. McKusick : 10/21/1993
carol : 10/19/2009
carol : 10/19/2009
joanna : 11/2/1999
dholmes : 1/12/1998
dholmes : 12/23/1997
terry : 4/18/1995
carol : 12/20/1993
carol : 10/21/1993

* 182137

5-HYDROXYTRYPTAMINE RECEPTOR 7; HTR7


Alternative titles; symbols

SEROTONIN 5-HT-7 RECEPTOR


HGNC Approved Gene Symbol: HTR7

Cytogenetic location: 10q23.31     Genomic coordinates (GRCh38): 10:90,740,823-90,858,039 (from NCBI)


TEXT

Description

HTR7 is a G protein-coupled receptor for serotonin (Ruat et al., 1993; Bard et al., 1993).

For background information on 5-hydroxytryptamine (5-HT; serotonin) receptors, see 182131.


Cloning and Expression

Ruat et al. (1993) reported the characterization of a novel 5-HT receptor belonging to the superfamily of G protein-coupled receptors, for which they proposed the name 5-HT7 (Kenakin et al., 1992). From its molecular, pharmacologic, and signaling properties, it appeared that the 5-HT7 receptor defined another subfamily of mammalian 5-HT receptors.

Bard et al. (1993) cloned a full-length human HTR7 cDNA from a fetal brain cDNA library. The deduced 445-amino acid HTR7 protein has a relative molecular mass of approximately 49 kD. RT-PCR analysis detected predominant expression of HTR7 in human brain but also in a subset of peripheral tissues including coronary artery, kidney, liver, pancreas, and spleen.

Heidmann et al. (1997) identified at least 4 human HTR7 isoforms predicted to differ in their C-terminal ends. They found that 1 of the isoforms was relatively more prominent in spleen than in brain.

Tsou et al. (1994) cloned the gene from guinea pig hippocampus.


Gene Function

Using transient expression studies in COS-7 cells, Bard et al. (1993) demonstrated functional coupling of HTR7 to adenylate cyclase activation.


Mapping

Gelernter et al. (1995) tentatively assigned the HTR7 gene to chromosome 10 by Southern analysis of somatic cell hybrids. They then identified a genetic polymorphism at the HTR7 locus and studied its linkage with D10S20. Gelernter et al. (1995) assigned the gene to 10q21-q24 based on a lod score of 5.37 at 0% recombination between HTR7 and D10S20. They excluded genetic linkage between HTR7 and Tourette syndrome (137580). By radiation hybrid analysis, Lassig et al. (1999) confirmed localization of the HTR7 gene to 10q23. The authors also noted a pseudogene on 12p13.


REFERENCES

  1. Bard, J. A., Zgombick, J., Adham, N., Vaysse, P., Branchek, T. A., Weinshank, R. L. Cloning of a novel human serotonin receptor (5-HT-7) positively linked to adenylate cyclase. J. Biol. Chem. 268: 23422-23426, 1993. [PubMed: 8226867]

  2. Gelernter, J., Rao, P. A., Pauls, D. L., Hamblin, M. W., Sibley, D. R., Kidd, K. K. Assignment of the 5HT7 receptor gene (HTR7) to chromosome 10q and exclusion of genetic linkage with Tourette syndrome. Genomics 26: 207-209, 1995. [PubMed: 7601444] [Full Text: https://doi.org/10.1016/0888-7543(95)80202-w]

  3. Heidmann, D. E. A., Metcalf, M. A., Kohen, R., Hamblin, M. W. Four 5-hydroxytryptamine-7 (5-HT7) receptor isoforms in human and rat produced by alternative splicing: species differences due to altered intron-exon organization. J. Neurochem. 68: 1372-1381, 1997. [PubMed: 9084407] [Full Text: https://doi.org/10.1046/j.1471-4159.1997.68041372.x]

  4. Kenakin, T. P., Bond, R. A., Bonner, T. I. II. Definition of pharmacological receptors. Pharm. Rev. 44: 351-362, 1992. [PubMed: 1438521]

  5. Lassig, J. P., Vachirasomtoon, K., Hartzell, K., Leventhal, M., Courchesne, E., Courchesne, R., Lord, C., Leventhal, B. L., Cook, E. H., Jr. Physical mapping of the serotonin 5-HT(7) receptor gene (HTR7) to chromosome 10 and pseudogene (HTR7P) to chromosome 12, and testing of linkage disequilibrium between HTR7 and autistic disorder. Am. J. Med. Genet. 88: 472-475, 1999. [PubMed: 10490701] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19991015)88:5<472::aid-ajmg7>3.0.co;2-g]

  6. Ruat, M., Traiffort, E., Leurs, R., Tardivel-Lacombe, J., Diaz, J., Arrang, J.-M., Schwartz, J.-C. Molecular cloning, characterization, and localization of a high-affinity serotonin receptor (5-HT-7) activating cAMP formation. Proc. Nat. Acad. Sci. 90: 8547-8551, 1993. [PubMed: 8397408] [Full Text: https://doi.org/10.1073/pnas.90.18.8547]

  7. Tsou, A., Kosaka, A., Bach, C., Zuppan, P., Yee, C., Tom, L., Alvarez, R., Ramsey, S., Bonhaus, D. W., Stefanich, E., Jakeman, L., Eglen, R. M., Chan, H. W. Cloning and expression of a 5-hydroxytryptamine-7 receptor positively coupled to adenylyl cyclase. J. Neurochem. 63: 456-464, 1994. [PubMed: 7518496] [Full Text: https://doi.org/10.1046/j.1471-4159.1994.63020456.x]


Contributors:
Ada Hamosh - updated : 11/2/1999

Creation Date:
Victor A. McKusick : 10/21/1993

Edit History:
carol : 10/19/2009
carol : 10/19/2009
joanna : 11/2/1999
dholmes : 1/12/1998
dholmes : 12/23/1997
terry : 4/18/1995
carol : 12/20/1993
carol : 10/21/1993