Entry - *138610 - OROSOMUCOID 2; ORM2 - OMIM
 
* 138610

OROSOMUCOID 2; ORM2


Alternative titles; symbols

GLYCOPROTEIN, ALPHA-1-ACID, OF SERUM, TYPE 2
ALPHA-1-ACID GLYCOPROTEIN, TYPE 2; AGP2


HGNC Approved Gene Symbol: ORM2

Cytogenetic location: 9q32     Genomic coordinates (GRCh38): 9:114,329,869-114,333,251 (from NCBI)


TEXT

Cloning and Expression

Yuasa et al. (1986) performed orosomucoid phenotyping by isoelectric focusing and immunoprinting. The band pattern of desialyzed ORM indicated to these workers that the ORM system is controlled by 2 structural loci, ORM1 (138600) and ORM2.

By studies of orosomucoid cDNA clones isolated from mouse liver, Cooper and Papaconstantinou (1986) showed that 2 species of ORM mRNA are transcribed from 2 distinct genes. Escallon et al. (1987) presented evidence for the expression of a second structural locus (ORM2) in human plasma as well as for the detection of genetically determined variation at the ORM2 locus in American blacks by the use of a sensitive enzyme-linked immunoblotting technique. After thin-layer polyacrylamide isoelectric focusing (IEF) in gels containing 6 M urea, the isoprotein species coded by the second locus did not segregate with the predominant alleles at the ORM1 locus. Variation in ORM2 was not observed in U.S. whites or in several other populations studied. Because of the low frequency and unlimited distribution of ORM2 variation, Escallon et al. (1987) were unable to test for linkage between the 2 ORM loci.

Yuasa et al. (1997) found that the ORM1 and ORM2 genes encode 183-amino acid polypeptides. Merritt and Board (1988) found at least 21 amino acid differences between the products of the 2 genes.


Gene Structure

Yuasa et al. (1997) found that the ORM1 and ORM2 genes contain 6 exons. Merritt and Board (1988) presented the complete nucleotide sequence of the ORM2 gene.


Mapping

By in situ hybridization using a cDNA clone for AGP2, Webb et al. (1988) mapped both alpha-1-acid glycoprotein genes in the 9q34 band. Yuasa et al. (1988) demonstrated linkage disequilibrium between alleles at the ORM1 and ORM2 loci, thus corroborating the close linkage demonstrated physically by Dente et al. (1987).

Merritt and Board (1988) found that the ORM2 gene is located approximately 3.3 kb downstream from ORM1.


Molecular Genetics

Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).

Yuasa et al. (1987) demonstrated polymorphism of the ORM2 locus, with 6 alleles in the Japanese population.

Yuasa et al. (1988) used a modified isoelectric focusing, in which glycerine was omitted from gels, to differentiate ORM1 and ORM2 variants.

Using a new method for ORM phenotyping, Eap et al. (1988) discovered a rare variant tentatively assigned to the ORM2 locus and a common variant tentatively assigned to the ORM1 locus. Umetsu et al. (1988) reported on polymorphism of ORM1 and ORM2 in a population in the Philippines. ORM2 was nonpolymorphic, i.e., monomorphic, in that population when studied by that method.


REFERENCES

  1. Cooper, R., Papaconstantinou, J. Evidence of multiple alpha-1 acid glycoprotein genes in the mouse. J. Biol. Chem. 261: 1849-1853, 1986. [PubMed: 3003086, related citations]

  2. Dente, L., Pizza, M. G., Metspalu, A., Cortese, R. Structure and expression of the genes coding for human alpha-1-acid glycoprotein. EMBO J. 6: 2289-2296, 1987. [PubMed: 2822385, related citations] [Full Text]

  3. Eap, C. B., Cuendet, C., Baumann, P. Orosomucoid (alpha-1 acid glycoprotein) phenotyping by use of immobilized pH gradients with 8 M urea and immunoblotting: a new variant encountered in a population study. Hum. Genet. 80: 183-185, 1988. [PubMed: 3169743, related citations] [Full Text]

  4. Escallon, M. H., Ferrell, R. E., Kamboh, M. I. Genetic studies of low-abundance human plasma proteins. V. Evidence for a second orosomucoid structural locus (ORM2) expressed in plasma. Am. J. Hum. Genet. 41: 418-427, 1987. [PubMed: 3631077, related citations]

  5. Merritt, C. M., Board, P. G. Structure and characterisation of a duplicated human alpha-1 acid glycoprotein gene. Gene 66: 97-106, 1988. [PubMed: 2970990, related citations] [Full Text]

  6. Roychoudhury, A. K., Nei, M. Human Polymorphic Genes: World Distribution. New York: Oxford Univ. Press (pub.) 1988.

  7. Umetsu, K., Yuasa, I., Nishimura, H., Sasaki, H., Suzuki, T. Genetic polymorphisms of orosomucoid and alpha-2-HS-glycoprotein in a Philippine population. Hum. Hered. 38: 287-290, 1988. [PubMed: 3235093, related citations] [Full Text]

  8. Webb, G. C., Earle, M. E., Merritt, C., Board, P. G. Localization of human alpha-1 acid glycoprotein genes to 9q31-q34.1. Cytogenet. Cell Genet. 47: 18-21, 1988. [PubMed: 3356164, related citations] [Full Text]

  9. Yuasa, I., Suenaga, K., Umetsu, K., Ito, K., Robinet-Levy, M. Orosomucoid (ORM) typing by isoelectric focusing: evidence for gene duplication of ORM1 and genetic polymorphism of ORM2. Hum. Genet. 77: 255-258, 1987. [PubMed: 3679210, related citations] [Full Text]

  10. Yuasa, I., Umetsu, K., Suenaga, K. Orosomucoid (ORM) typing by isoelectric focusing: evidence for an additional duplicated ORM1 locus haplotype and close linkage of two ORM loci. Am. J. Hum. Genet. 43: 165-169, 1988. [PubMed: 3400642, related citations]

  11. Yuasa, I., Umetsu, K., Suenaga, K., Robinet-Levy, M. Orosomucoid (ORM) typing by isoelectric focusing: evidence for two structural loci ORM1 and ORM2. Hum. Genet. 74: 160-161, 1986. [PubMed: 3770743, related citations] [Full Text]

  12. Yuasa, I., Umetsu, K., Vogt, U., Nakamura, H., Nanba, E., Tamaki, N., Irizawa, Y. Human orosomucoid polymorphism: molecular basis of the three common ORM1 alleles, ORM1*F1, ORM1*F2, and ORM1*S. Hum. Genet. 99: 393-398, 1997. [PubMed: 9050929, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 12/15/1986
carol : 06/25/2014
carol : 6/25/2014
mark : 6/7/1996
pfoster : 2/18/1994
supermim : 3/16/1992
carol : 2/26/1991
carol : 2/8/1991
supermim : 3/20/1990
ddp : 10/27/1989

* 138610

OROSOMUCOID 2; ORM2


Alternative titles; symbols

GLYCOPROTEIN, ALPHA-1-ACID, OF SERUM, TYPE 2
ALPHA-1-ACID GLYCOPROTEIN, TYPE 2; AGP2


HGNC Approved Gene Symbol: ORM2

Cytogenetic location: 9q32     Genomic coordinates (GRCh38): 9:114,329,869-114,333,251 (from NCBI)


TEXT

Cloning and Expression

Yuasa et al. (1986) performed orosomucoid phenotyping by isoelectric focusing and immunoprinting. The band pattern of desialyzed ORM indicated to these workers that the ORM system is controlled by 2 structural loci, ORM1 (138600) and ORM2.

By studies of orosomucoid cDNA clones isolated from mouse liver, Cooper and Papaconstantinou (1986) showed that 2 species of ORM mRNA are transcribed from 2 distinct genes. Escallon et al. (1987) presented evidence for the expression of a second structural locus (ORM2) in human plasma as well as for the detection of genetically determined variation at the ORM2 locus in American blacks by the use of a sensitive enzyme-linked immunoblotting technique. After thin-layer polyacrylamide isoelectric focusing (IEF) in gels containing 6 M urea, the isoprotein species coded by the second locus did not segregate with the predominant alleles at the ORM1 locus. Variation in ORM2 was not observed in U.S. whites or in several other populations studied. Because of the low frequency and unlimited distribution of ORM2 variation, Escallon et al. (1987) were unable to test for linkage between the 2 ORM loci.

Yuasa et al. (1997) found that the ORM1 and ORM2 genes encode 183-amino acid polypeptides. Merritt and Board (1988) found at least 21 amino acid differences between the products of the 2 genes.


Gene Structure

Yuasa et al. (1997) found that the ORM1 and ORM2 genes contain 6 exons. Merritt and Board (1988) presented the complete nucleotide sequence of the ORM2 gene.


Mapping

By in situ hybridization using a cDNA clone for AGP2, Webb et al. (1988) mapped both alpha-1-acid glycoprotein genes in the 9q34 band. Yuasa et al. (1988) demonstrated linkage disequilibrium between alleles at the ORM1 and ORM2 loci, thus corroborating the close linkage demonstrated physically by Dente et al. (1987).

Merritt and Board (1988) found that the ORM2 gene is located approximately 3.3 kb downstream from ORM1.


Molecular Genetics

Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).

Yuasa et al. (1987) demonstrated polymorphism of the ORM2 locus, with 6 alleles in the Japanese population.

Yuasa et al. (1988) used a modified isoelectric focusing, in which glycerine was omitted from gels, to differentiate ORM1 and ORM2 variants.

Using a new method for ORM phenotyping, Eap et al. (1988) discovered a rare variant tentatively assigned to the ORM2 locus and a common variant tentatively assigned to the ORM1 locus. Umetsu et al. (1988) reported on polymorphism of ORM1 and ORM2 in a population in the Philippines. ORM2 was nonpolymorphic, i.e., monomorphic, in that population when studied by that method.


REFERENCES

  1. Cooper, R., Papaconstantinou, J. Evidence of multiple alpha-1 acid glycoprotein genes in the mouse. J. Biol. Chem. 261: 1849-1853, 1986. [PubMed: 3003086]

  2. Dente, L., Pizza, M. G., Metspalu, A., Cortese, R. Structure and expression of the genes coding for human alpha-1-acid glycoprotein. EMBO J. 6: 2289-2296, 1987. [PubMed: 2822385] [Full Text: https://doi.org/10.1002/j.1460-2075.1987.tb02503.x]

  3. Eap, C. B., Cuendet, C., Baumann, P. Orosomucoid (alpha-1 acid glycoprotein) phenotyping by use of immobilized pH gradients with 8 M urea and immunoblotting: a new variant encountered in a population study. Hum. Genet. 80: 183-185, 1988. [PubMed: 3169743] [Full Text: https://doi.org/10.1007/BF00702865]

  4. Escallon, M. H., Ferrell, R. E., Kamboh, M. I. Genetic studies of low-abundance human plasma proteins. V. Evidence for a second orosomucoid structural locus (ORM2) expressed in plasma. Am. J. Hum. Genet. 41: 418-427, 1987. [PubMed: 3631077]

  5. Merritt, C. M., Board, P. G. Structure and characterisation of a duplicated human alpha-1 acid glycoprotein gene. Gene 66: 97-106, 1988. [PubMed: 2970990] [Full Text: https://doi.org/10.1016/0378-1119(88)90228-4]

  6. Roychoudhury, A. K., Nei, M. Human Polymorphic Genes: World Distribution. New York: Oxford Univ. Press (pub.) 1988.

  7. Umetsu, K., Yuasa, I., Nishimura, H., Sasaki, H., Suzuki, T. Genetic polymorphisms of orosomucoid and alpha-2-HS-glycoprotein in a Philippine population. Hum. Hered. 38: 287-290, 1988. [PubMed: 3235093] [Full Text: https://doi.org/10.1159/000153801]

  8. Webb, G. C., Earle, M. E., Merritt, C., Board, P. G. Localization of human alpha-1 acid glycoprotein genes to 9q31-q34.1. Cytogenet. Cell Genet. 47: 18-21, 1988. [PubMed: 3356164] [Full Text: https://doi.org/10.1159/000132497]

  9. Yuasa, I., Suenaga, K., Umetsu, K., Ito, K., Robinet-Levy, M. Orosomucoid (ORM) typing by isoelectric focusing: evidence for gene duplication of ORM1 and genetic polymorphism of ORM2. Hum. Genet. 77: 255-258, 1987. [PubMed: 3679210] [Full Text: https://doi.org/10.1007/BF00284480]

  10. Yuasa, I., Umetsu, K., Suenaga, K. Orosomucoid (ORM) typing by isoelectric focusing: evidence for an additional duplicated ORM1 locus haplotype and close linkage of two ORM loci. Am. J. Hum. Genet. 43: 165-169, 1988. [PubMed: 3400642]

  11. Yuasa, I., Umetsu, K., Suenaga, K., Robinet-Levy, M. Orosomucoid (ORM) typing by isoelectric focusing: evidence for two structural loci ORM1 and ORM2. Hum. Genet. 74: 160-161, 1986. [PubMed: 3770743] [Full Text: https://doi.org/10.1007/BF00282080]

  12. Yuasa, I., Umetsu, K., Vogt, U., Nakamura, H., Nanba, E., Tamaki, N., Irizawa, Y. Human orosomucoid polymorphism: molecular basis of the three common ORM1 alleles, ORM1*F1, ORM1*F2, and ORM1*S. Hum. Genet. 99: 393-398, 1997. [PubMed: 9050929] [Full Text: https://doi.org/10.1007/s004390050378]


Creation Date:
Victor A. McKusick : 12/15/1986

Edit History:
carol : 06/25/2014
carol : 6/25/2014
mark : 6/7/1996
pfoster : 2/18/1994
supermim : 3/16/1992
carol : 2/26/1991
carol : 2/8/1991
supermim : 3/20/1990
ddp : 10/27/1989