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BTN2A2 butyrophilin subfamily 2 member A2 [ Homo sapiens (human) ]

Gene ID: 10385, updated on 7-Apr-2024

Summary

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Official Symbol
BTN2A2provided by HGNC
Official Full Name
butyrophilin subfamily 2 member A2provided by HGNC
Primary source
HGNC:HGNC:1137
See related
Ensembl:ENSG00000124508 MIM:613591; AllianceGenome:HGNC:1137
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BTF2; BT2.2; BTN2.2
Summary
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 I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
Expression
Broad expression in lymph node (RPKM 8.9), appendix (RPKM 6.5) and 24 other tissues See more
Orthologs
all
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Genomic context

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See BTN2A2 in Genome Data Viewer
Location:
6p22.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (26383108..26394874)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (26250301..26263238)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (26383336..26395102)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24239 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24240 Neighboring gene butyrophilin subfamily 3 member A2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24241 Neighboring gene butyrophilin subfamily 3 member A1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:26420693-26421656 Neighboring gene butyrophilin subfamily 2 member A3, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A proteomic approach to evaluate the butyrophilin gene family expression in human milk fat globule membrane. Cavaletto M, et al. Proteomics, 2002 Jul. PMID 12124930
  2. Structure and evolution of the extended B7 family. Henry J, et al. Immunol Today, 1999 Jun. PMID 10354554
  3. Btn2a2, a T cell immunomodulatory molecule coregulated with MHC class II genes. Sarter K, et al. J Exp Med, 2016 Feb 8. PMID 26809444, Free PMC Article
  4. The cluster of BTN genes in the extended major histocompatibility complex. Rhodes DA, et al. Genomics, 2001 Feb 1. PMID 11170752
  5. Common variants on chromosome 6p22.1 are associated with schizophrenia. Shi J, et al. Nature, 2009 Aug 6. PMID 19571809, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common variants on chromosome 6p22.1 are associated with schizophrenia.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ41908

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
  
involved_in G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in T cell receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of T cell receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of activated T cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of cytokine production ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of regulatory T cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cytokine production IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
butyrophilin subfamily 2 member A2
Names
butyrophilin 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001197237.2 → NP_001184166.1  butyrophilin subfamily 2 member A2 isoform a precursor

    See identical proteins and their annotated locations for NP_001184166.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' UTR exon and encodes the same longest isoform (a) compared to variant 1.
    Source sequence(s)
    AL021917, BC013258, BC014021, DC373063
    Consensus CDS
    CCDS4606.1
    UniProtKB/Swiss-Prot
    A6NM84, B4DE97, B4DQ01, E9PH07, O00480, Q8WVV5
    Related
    ENSP00000399308.2, ENST00000416795.6
    Conserved Domains (3) summary
    cd05713
    Location:48 → 147
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:42 → 146
    IG_like; Immunoglobulin like
    cd15819
    Location:326 → 496
    SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)

  2. NM_001197238.2 → NP_001184167.1  butyrophilin subfamily 2 member A2 isoform c precursor

    See identical proteins and their annotated locations for NP_001184167.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate segment in the 3' region compared to variant 1, resulting in a shorter isoform (c) with distinct C-terminus, compared to isoform a.
    Source sequence(s)
    BC013258, BC017497, BP234194
    Consensus CDS
    CCDS56401.1
    UniProtKB/Swiss-Prot
    Q8WVV5
    Related
    ENSP00000417472.1, ENST00000469230.5
    Conserved Domains (2) summary
    cd05713
    Location:48 → 147
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:42 → 146
    IG_like; Immunoglobulin like

  3. NM_001197239.2 → NP_001184168.1  butyrophilin subfamily 2 member A2 isoform d precursor

    See identical proteins and their annotated locations for NP_001184168.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two consecutive in-frame exons in the 5' region compared to variant 1, resulting in a shorter protein (isoform d), compared to isoform a.
    Source sequence(s)
    AK293526, BC013258, DC388932
    Consensus CDS
    CCDS56403.1
    UniProtKB/Swiss-Prot
    Q8WVV5
    Related
    ENSP00000419451.1, ENST00000482536.5
    Conserved Domains (1) summary
    cd15819
    Location:116 → 286
    SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)

  4. NM_001197240.2 → NP_001184169.1  butyrophilin subfamily 2 member A2 isoform e precursor

    See identical proteins and their annotated locations for NP_001184169.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an in-frame exon in the 5' region and has an additional segment in the 3' region, compared to variant 1. The resulting isoform (b) lacks an internal segment and has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AK298570, BC013258, DC388932
    Consensus CDS
    CCDS56402.1
    UniProtKB/Swiss-Prot
    Q8WVV5
    Related
    ENSP00000394241.2, ENST00000432533.6
    Conserved Domains (2) summary
    cd05713
    Location:48 → 147
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:42 → 146
    IG_like; Immunoglobulin like

  5. NM_006995.5 → NP_008926.2  butyrophilin subfamily 2 member A2 isoform a precursor

    See identical proteins and their annotated locations for NP_008926.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) and variant 3 encode the longest isoform (a).
    Source sequence(s)
    BC014021, DC388932, U90550
    Consensus CDS
    CCDS4606.1
    UniProtKB/Swiss-Prot
    A6NM84, B4DE97, B4DQ01, E9PH07, O00480, Q8WVV5
    Related
    ENSP00000349143.4, ENST00000356709.9
    Conserved Domains (3) summary
    cd05713
    Location:48 → 147
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:42 → 146
    IG_like; Immunoglobulin like
    cd15819
    Location:326 → 496
    SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)

  6. NM_181531.3 → NP_853509.1  butyrophilin subfamily 2 member A2 isoform b precursor

    See identical proteins and their annotated locations for NP_853509.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' region compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AK289883, BC013258, DC388932
    Consensus CDS
    CCDS4607.1
    UniProtKB/Swiss-Prot
    Q8WVV5
    Related
    ENSP00000337117.3, ENST00000352867.6
    Conserved Domains (1) summary
    cd15819
    Location:210 → 380
    SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    26383108..26394874
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714955.4 → XP_006715018.1  butyrophilin subfamily 2 member A2 isoform X4

    Conserved Domains (2) summary
    cd05713
    Location:48 → 147
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:42 → 146
    IG_like; Immunoglobulin like

  2. XM_005248797.4 → XP_005248854.1  butyrophilin subfamily 2 member A2 isoform X1

    See identical proteins and their annotated locations for XP_005248854.1

    UniProtKB/Swiss-Prot
    A6NM84, B4DE97, B4DQ01, E9PH07, O00480, Q8WVV5
    Conserved Domains (3) summary
    cd05713
    Location:48 → 147
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:42 → 146
    IG_like; Immunoglobulin like
    cd15819
    Location:326 → 496
    SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)

  3. XM_047418075.1 → XP_047274031.1  butyrophilin subfamily 2 member A2 isoform X6

  4. XM_005248798.5 → XP_005248855.1  butyrophilin subfamily 2 member A2 isoform X3

    See identical proteins and their annotated locations for XP_005248855.1

    UniProtKB/Swiss-Prot
    Q8WVV5
    Conserved Domains (1) summary
    cd15819
    Location:210 → 380
    SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)

  5. XM_011514231.4 → XP_011512533.1  butyrophilin subfamily 2 member A2 isoform X5

    See identical proteins and their annotated locations for XP_011512533.1

    UniProtKB/Swiss-Prot
    Q8WVV5
    Conserved Domains (1) summary
    cd15819
    Location:116 → 286
    SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)

  6. XM_011514228.3 → XP_011512530.1  butyrophilin subfamily 2 member A2 isoform X1

    See identical proteins and their annotated locations for XP_011512530.1

    UniProtKB/Swiss-Prot
    A6NM84, B4DE97, B4DQ01, E9PH07, O00480, Q8WVV5
    Conserved Domains (3) summary
    cd05713
    Location:48 → 147
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:42 → 146
    IG_like; Immunoglobulin like
    cd15819
    Location:326 → 496
    SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)

  7. XM_017010166.3 → XP_016865655.1  butyrophilin subfamily 2 member A2 isoform X2

    Conserved Domains (2) summary
    cd15819
    Location:264 → 434
    SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)
    cd05713
    Location:48 → 147
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    26250301..26263238
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354027.1 → XP_054210002.1  butyrophilin subfamily 2 member A2 isoform X7

  2. XM_054354024.1 → XP_054209999.1  butyrophilin subfamily 2 member A2 isoform X1

    UniProtKB/Swiss-Prot
    A6NM84, B4DE97, B4DQ01, E9PH07, O00480, Q8WVV5

  3. XM_054354023.1 → XP_054209998.1  butyrophilin subfamily 2 member A2 isoform X1

    UniProtKB/Swiss-Prot
    A6NM84, B4DE97, B4DQ01, E9PH07, O00480, Q8WVV5

  4. XM_054354026.1 → XP_054210001.1  butyrophilin subfamily 2 member A2 isoform X3

  5. XM_054354029.1 → XP_054210004.1  butyrophilin subfamily 2 member A2 isoform X5

  6. XM_054354025.1 → XP_054210000.1  butyrophilin subfamily 2 member A2 isoform X2

  7. XM_054354028.1 → XP_054210003.1  butyrophilin subfamily 2 member A2 isoform X4

  8. XM_054354030.1 → XP_054210005.1  butyrophilin subfamily 2 member A2 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WVV5.2 GenPept UniProtKB/Swiss-Prot:Q8WVV5

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