Butyrophilin, subfamily 2, member A2

Butyrophilin subfamily 2 member A2 is a protein that in humans is encoded by the BTN2A2 gene.[5][6][7]

BTN2A2
Identifiers
AliasesBTN2A2, BT2.2, BTF2, BTN2.2, Butyrophilin, subfamily 2, member A2, butyrophilin subfamily 2 member A2
External IDsOMIM: 613591 MGI: 3606486 HomoloGene: 56012 GeneCards: BTN2A2
Gene location (Human)
Chr.Chromosome 6 (human)[1]
Band6p22.2Start26,383,096 bp[1]
End26,394,874 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

10385

238555

Ensembl

ENSG00000124508

ENSMUSG00000053216

UniProt

Q8WVV5

A4QPC6

RefSeq (mRNA)

NM_001289614
NM_001289615
NM_175938

RefSeq (protein)

NP_001276543
NP_001276544
NP_787952

Location (UCSC)Chr 6: 26.38 – 26.39 MbChr 13: 23.48 – 23.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type 1 receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined.[7]

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References
  1. GRCh38: Ensembl release 89: ENSG00000124508 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000053216 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Henry J, Miller MM, Pontarotti P (June 1999). "Structure and evolution of the extended B7 family". Immunology Today. 20 (6): 285–8. doi:10.1016/S0167-5699(98)01418-2. PMID 10354554.
  6. Ruddy DA, Kronmal GS, Lee VK, Mintier GA, Quintana L, Domingo R, Meyer NC, Irrinki A, McClelland EE, Fullan A, Mapa FA, Moore T, Thomas W, Loeb DB, Harmon C, Tsuchihashi Z, Wolff RK, Schatzman RC, Feder JN (May 1997). "A 1.1-Mb transcript map of the hereditary hemochromatosis locus". Genome Research. 7 (5): 441–56. doi:10.1101/gr.7.5.441. PMID 9149941.
  7. "Entrez Gene: BTN2A2 butyrophilin, subfamily 2, member A2".

Further reading
  • Cavaletto M, Giuffrida MG, Fortunato D, Gardano L, Dellavalle G, Napolitano L, Giunta C, Bertino E, Fabris C, Conti A (July 2002). "A proteomic approach to evaluate the butyrophilin gene family expression in human milk fat globule membrane". Proteomics. 2 (7): 850–6. doi:10.1002/1615-9861(200207)2:7<850::AID-PROT850>3.0.CO;2-C. PMID 12124930.
  • Rhodes DA, Stammers M, Malcherek G, Beck S, Trowsdale J (February 2001). "The cluster of BTN genes in the extended major histocompatibility complex". Genomics. 71 (3): 351–62. doi:10.1006/geno.2000.6406. PMID 11170752.


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