Entry - *610581 - COATOMER PROTEIN COMPLEX, SUBUNIT GAMMA-2, INTRONIC TRANSCRIPT 1; COPG2IT1 - OMIM

 
 
* 610581

COATOMER PROTEIN COMPLEX, SUBUNIT GAMMA-2, INTRONIC TRANSCRIPT 1; COPG2IT1


Alternative titles; symbols

COPG2 INTRONIC TRANSCRIPT 1; CIT1


HGNC Approved Gene Symbol: COPG2IT1

Cytogenetic location: 7q32.2     Genomic coordinates (GRCh38): 7:130,543,453-130,546,900 (from NCBI)


TEXT

▼ Cloning and Expression

The COPG2 gene (604355) is located on chromosome 7q32 adjacent to the MEST gene (610029), which is paternally expressed in fetal tissues due to genomic imprinting. Yamasaki et al. (2000) identified CIT1, an antisense transcript of COPG2 intron 20. Genomic PCR and RT-PCR revealed no significant ORF in CIT1. Unlike COPG2, which showed biallelic expression in all fetal tissues examined and in adult blood lymphocytes, CIT1 was expressed from the paternal allele in all fetal tissues examined. Adult blood lymphocytes showed biallelic expression of CIT1.


▼ Mapping

By genomic sequence analysis, Yamasaki et al. (2000) mapped COPG2IT1 within intron 20 of the COPG2 gene on chromosome 7q32.


▼ REFERENCES

  1. Yamasaki, K., Hayashida, S., Miura, K., Masuzaki, H., Ishimaru, T., Niikawa, N., Kishino, T. The novel gene, gamma-2-COP (COPG2), in the 7q32 imprinted domain escapes genomic imprinting. Genomics 68: 330-335, 2000. [PubMed: 10995575, related citations] [Full Text]


Contributors:
Matthew B. Gross - updated : 11/17/2006
Creation Date:
Patricia A. Hartz : 11/17/2006
Edit History:
mgross : 11/17/2006

* 610581

COATOMER PROTEIN COMPLEX, SUBUNIT GAMMA-2, INTRONIC TRANSCRIPT 1; COPG2IT1


Alternative titles; symbols

COPG2 INTRONIC TRANSCRIPT 1; CIT1


HGNC Approved Gene Symbol: COPG2IT1

Cytogenetic location: 7q32.2     Genomic coordinates (GRCh38): 7:130,543,453-130,546,900 (from NCBI)


TEXT

Cloning and Expression

The COPG2 gene (604355) is located on chromosome 7q32 adjacent to the MEST gene (610029), which is paternally expressed in fetal tissues due to genomic imprinting. Yamasaki et al. (2000) identified CIT1, an antisense transcript of COPG2 intron 20. Genomic PCR and RT-PCR revealed no significant ORF in CIT1. Unlike COPG2, which showed biallelic expression in all fetal tissues examined and in adult blood lymphocytes, CIT1 was expressed from the paternal allele in all fetal tissues examined. Adult blood lymphocytes showed biallelic expression of CIT1.


Mapping

By genomic sequence analysis, Yamasaki et al. (2000) mapped COPG2IT1 within intron 20 of the COPG2 gene on chromosome 7q32.


REFERENCES

  1. Yamasaki, K., Hayashida, S., Miura, K., Masuzaki, H., Ishimaru, T., Niikawa, N., Kishino, T. The novel gene, gamma-2-COP (COPG2), in the 7q32 imprinted domain escapes genomic imprinting. Genomics 68: 330-335, 2000. [PubMed: 10995575] [Full Text: https://doi.org/10.1006/geno.2000.6265]


Contributors:
Matthew B. Gross - updated : 11/17/2006

Creation Date:
Patricia A. Hartz : 11/17/2006

Edit History:
mgross : 11/17/2006



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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: June 12, 2024