Entry - *613594 - BUTYROPHILIN, SUBFAMILY 3, MEMBER A2; BTN3A2 - OMIM

 
 
* 613594

BUTYROPHILIN, SUBFAMILY 3, MEMBER A2; BTN3A2


Alternative titles; symbols

BT3.2
BTF4


HGNC Approved Gene Symbol: BTN3A2

Cytogenetic location: 6p22.2     Genomic coordinates (GRCh38): 6:26,365,169-26,378,320 (from NCBI)


TEXT

▼ Description

The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (601610) and the BTN2 (e.g., BTN2A1; 613590) and BTN3 (e.g., BNT3A2) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010).


▼ Cloning and Expression

By genomic sequence analysis, RT-PCR of peripheral blood leukocytes and human cell lines, and 3-prime RACE of a fetal tissue cDNA library, Rhodes et al. (2001) cloned BTN3A2. They obtained no full-length BTN3A2 transcript comparable to those of other BTN genes. Instead, the BTN3A2 transcript is truncated at its 3-prime end and encodes a protein lacking the B30.2 domain. Immunofluorescence microscopy showed surface expression of BTN3A2 in transfected HeLa and Chinese hamster ovary cells.


▼ Gene Structure

Rhodes et al. (2001) determined that the BTN3A2 gene spans approximately 12 kb and contains 9 exons.


▼ Mapping

By genomic sequence analysis, Rhodes et al. (2001) mapped the BTN3A2 gene within the BTN gene cluster on chromosome 6p22.1. The BTN gene cluster is located about 4 Mb telomeric to the classical MHC class I genes. BTN3A2 is the most telomeric gene in the cluster.


▼ REFERENCES

  1. Rhodes, D. A., Stammers, M., Malcherek, G., Beck, S., Trowsdale, J. The cluster of BTN genes in the extended major histocompatibility complex. Genomics 71: 351-362, 2001. [PubMed: 11170752, related citations] [Full Text]

  2. Smith, I. A., Knezevic, B. R., Ammann, J. U., Rhodes, D. A., Aw, D., Palmer, D. B., Mather, I. H., Trowsdale, J. BTN1A1, the mammary gland butyrophilin, and BTN2A2 are both inhibitors of T cell activation. J. Immun. 184: 3514-3525, 2010. [PubMed: 20208008, related citations] [Full Text]


Creation Date:
Paul J. Converse : 10/11/2010
Edit History:
mgross : 10/11/2010

* 613594

BUTYROPHILIN, SUBFAMILY 3, MEMBER A2; BTN3A2


Alternative titles; symbols

BT3.2
BTF4


HGNC Approved Gene Symbol: BTN3A2

Cytogenetic location: 6p22.2     Genomic coordinates (GRCh38): 6:26,365,169-26,378,320 (from NCBI)


TEXT

Description

The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (601610) and the BTN2 (e.g., BTN2A1; 613590) and BTN3 (e.g., BNT3A2) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010).


Cloning and Expression

By genomic sequence analysis, RT-PCR of peripheral blood leukocytes and human cell lines, and 3-prime RACE of a fetal tissue cDNA library, Rhodes et al. (2001) cloned BTN3A2. They obtained no full-length BTN3A2 transcript comparable to those of other BTN genes. Instead, the BTN3A2 transcript is truncated at its 3-prime end and encodes a protein lacking the B30.2 domain. Immunofluorescence microscopy showed surface expression of BTN3A2 in transfected HeLa and Chinese hamster ovary cells.


Gene Structure

Rhodes et al. (2001) determined that the BTN3A2 gene spans approximately 12 kb and contains 9 exons.


Mapping

By genomic sequence analysis, Rhodes et al. (2001) mapped the BTN3A2 gene within the BTN gene cluster on chromosome 6p22.1. The BTN gene cluster is located about 4 Mb telomeric to the classical MHC class I genes. BTN3A2 is the most telomeric gene in the cluster.


REFERENCES

  1. Rhodes, D. A., Stammers, M., Malcherek, G., Beck, S., Trowsdale, J. The cluster of BTN genes in the extended major histocompatibility complex. Genomics 71: 351-362, 2001. [PubMed: 11170752] [Full Text: https://doi.org/10.1006/geno.2000.6406]

  2. Smith, I. A., Knezevic, B. R., Ammann, J. U., Rhodes, D. A., Aw, D., Palmer, D. B., Mather, I. H., Trowsdale, J. BTN1A1, the mammary gland butyrophilin, and BTN2A2 are both inhibitors of T cell activation. J. Immun. 184: 3514-3525, 2010. [PubMed: 20208008] [Full Text: https://doi.org/10.4049/jimmunol.0900416]


Creation Date:
Paul J. Converse : 10/11/2010

Edit History:
mgross : 10/11/2010



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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 20, 2024