Entry - *604954 - KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 3; KIR2DS3 - OMIM

 
 
* 604954

KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 3; KIR2DS3


Alternative titles; symbols

NK-ASSOCIATED TRANSCRIPT; NKAT7


HGNC Approved Gene Symbol: KIR2DS3

Cytogenetic location: 19q13.4     Genomic coordinates (GRCh38): 19:50,900,001-58,617,616


▼ TEXT

For background information on the KIR family of natural killer (NK) cell Ig-like receptors, see KIR2DL1 (604936).

▼ Cloning and Expression

Dohring et al. (1996) identified a KIR2DS3 cDNA, which they called NKAT7. Sequence analysis revealed a structure similar to that of KIR2DS2 (604953), with an extracellular domain containing 2 Ig-like domains. The transmembrane region contains a charged lysine residue, and the cytoplasmic tail has only 39 amino acids with no ITIM (immunoreceptor tyrosine-based inhibitory motif). KIRs with short cytoplasmic tails are associated with NK cell triggering rather than inhibition.


▼ Mapping

The International Radiation Hybrid Mapping Consortium mapped the KIR2DS3 gene to chromosome 19 (L76670).

▼ REFERENCES

  1. Dohring, C., Samaridis, J., Colonna, M. Alternatively spliced forms of human killer inhibitory receptors. Immunogenetics 44: 227-230, 1996. [PubMed: 8662091, related citations] [Full Text]


Creation Date:
Paul J. Converse : 5/11/2000
Edit History:
alopez : 06/25/2014
carol : 5/12/2000

* 604954

KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 3; KIR2DS3


Alternative titles; symbols

NK-ASSOCIATED TRANSCRIPT; NKAT7


HGNC Approved Gene Symbol: KIR2DS3

Cytogenetic location: 19q13.4     Genomic coordinates (GRCh38): 19:50,900,001-58,617,616


TEXT

For background information on the KIR family of natural killer (NK) cell Ig-like receptors, see KIR2DL1 (604936).

Cloning and Expression

Dohring et al. (1996) identified a KIR2DS3 cDNA, which they called NKAT7. Sequence analysis revealed a structure similar to that of KIR2DS2 (604953), with an extracellular domain containing 2 Ig-like domains. The transmembrane region contains a charged lysine residue, and the cytoplasmic tail has only 39 amino acids with no ITIM (immunoreceptor tyrosine-based inhibitory motif). KIRs with short cytoplasmic tails are associated with NK cell triggering rather than inhibition.


Mapping

The International Radiation Hybrid Mapping Consortium mapped the KIR2DS3 gene to chromosome 19 (L76670).

REFERENCES

  1. Dohring, C., Samaridis, J., Colonna, M. Alternatively spliced forms of human killer inhibitory receptors. Immunogenetics 44: 227-230, 1996. [PubMed: 8662091] [Full Text: https://doi.org/10.1007/BF02602590]


Creation Date:
Paul J. Converse : 5/11/2000

Edit History:
alopez : 06/25/2014
carol : 5/12/2000



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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 9, 2024