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BTN3A2 butyrophilin subfamily 3 member A2 [ Homo sapiens (human) ]

Gene ID: 11118, updated on 3-Apr-2024

Summary

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Official Symbol
BTN3A2provided by HGNC
Official Full Name
butyrophilin subfamily 3 member A2provided by HGNC
Primary source
HGNC:HGNC:1139
See related
Ensembl:ENSG00000186470 MIM:613594; AllianceGenome:HGNC:1139
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
BTF4; BT3.2; CD277; BTN3.2
Summary
This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
Expression
Ubiquitous expression in spleen (RPKM 42.7), appendix (RPKM 22.0) and 24 other tissues See more
Orthologs
all
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Genomic context

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Location:
6p22.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (26365169..26378320)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (26233545..26246692)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (26365426..26378548)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928743 Neighboring gene uncharacterized LOC124901288 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:26332100-26332281 Neighboring gene CRISPRi-validated cis-regulatory element chr6.1147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24238 Neighboring gene uncharacterized LOC124901520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24239 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24240 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17008 Neighboring gene butyrophilin subfamily 2 member A2 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

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. Fine-mapping butyrophilin family genes revealed several polymorphisms influencing viral genotype selection in hepatitis C infection. Ampuero J, et al. Genes Immun, 2015 Jul-Aug. PMID 25928882
  2. Evaluation of HLA polymorphisms in relation to schizophrenia risk and infectious exposure. Bamne M, et al. Schizophr Bull, 2012 Nov. PMID 22966150, Free PMC Article
  3. BTN3A2 expression in epithelial ovarian cancer is associated with higher tumor infiltrating T cells and a better prognosis. Le Page C, et al. PLoS One, 2012. PMID 22685580, Free PMC Article
  4. CpG-specific methylation at rheumatoid arthritis diagnosis as a marker of treatment response. Horsburgh S, et al. Epigenomics, 2017 May. PMID 28447857
  5. Exome Array Analysis Identifies Variants in SPOCD1 and BTN3A2 That Affect Risk for Gastric Cancer. Zhu M, et al. Gastroenterology, 2017 Jun. PMID 28246015

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CpG-specific DNA methylation of ADAMTSL2 and BTN3A2 at rheumatoid arthritis diagnosis can serve as a marker of treatment response.
    Title: CpG-specific methylation at rheumatoid arthritis diagnosis as a marker of treatment response.
  2. BTN3A2 genetic variants have role in gastric carcinogenesis.
    Title: Exome Array Analysis Identifies Variants in SPOCD1 and BTN3A2 That Affect Risk for Gastric Cancer.
  3. BTN3A2 rs9104 was strongly associated with genotype 1 hepatitis C infection.
    Title: Fine-mapping butyrophilin family genes revealed several polymorphisms influencing viral genotype selection in hepatitis C infection.
  4. Three SNPs in BTN3A2 were associated with schizophrenia, rs12214031, rs9393709 and rs12199613. There was no interaction between these SNPs and HSV-1, CMV or toxoplasma exposure.
    Title: Evaluation of HLA polymorphisms in relation to schizophrenia risk and infectious exposure.
  5. Results suggest that BT3.2 butyrophilin expression by epithelial cells may modulates the intratumoral infiltration of immune cells.
    Title: BTN3A2 expression in epithelial ovarian cancer is associated with higher tumor infiltrating T cells and a better prognosis.
  6. our results identify PRSS16 and BTN3A2, two genes thought to play important roles in regulating the immune response, as potentially novel susceptibility genes for Type I Deabetes.
    Title: Reproducible association with type 1 diabetes in the extended class I region of the major histocompatibility complex.
  7. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Common variants on chromosome 6p22.1 are associated with schizophrenia.
  8. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Reproducible association with type 1 diabetes in the extended class I region of the major histocompatibility complex.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
Submit: New GeneRIF Correction

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ40011

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 T cell mediated immunity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in T cell receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of type II interferon production IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 membrane HDA PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
butyrophilin subfamily 3 member A2
Names
butyrophilin protein

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_001197246.2 → NP_001184175.1  butyrophilin subfamily 3 member A2 isoform a precursor

    See identical proteins and their annotated locations for NP_001184175.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has a shorter 5' UTR and uses an alternate splice site in the 3' UTR, compared to variant 1. Variants 1-3 encode the same isoform (a).
    Source sequence(s)
    AL021917, BC020214
    Consensus CDS
    CCDS4605.1
    UniProtKB/Swiss-Prot
    B4DRT7, B4E103, F5H791, F8W6E0, O00477, O15338, O75658, P78410, Q76PA0, Q9BU81, Q9NR44
    UniProtKB/TrEMBL
    A8K4B5
    Related
    ENSP00000348751.2, ENST00000356386.6
    Conserved Domains (3) summary
    cd05713
    Location:45 → 144
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:37 → 143
    IG_like; Immunoglobulin like
    pfam16735
    Location:272 → 325
    MYO10_CC; Unconventional myosin-X coiled coil domain

  2. NM_001197247.3 → NP_001184176.1  butyrophilin subfamily 3 member A2 isoform a precursor

    See identical proteins and their annotated locations for NP_001184176.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in both UTRs, compared to variant 1. Variants 1-3 encode the same isoform (a).
    Source sequence(s)
    AK290880, AL021917, BC020214, CD705662
    Consensus CDS
    CCDS4605.1
    UniProtKB/Swiss-Prot
    B4DRT7, B4E103, F5H791, F8W6E0, O00477, O15338, O75658, P78410, Q76PA0, Q9BU81, Q9NR44
    UniProtKB/TrEMBL
    A8K4B5
    Related
    ENSP00000432138.1, ENST00000527422.5
    Conserved Domains (3) summary
    cd05713
    Location:45 → 144
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:37 → 143
    IG_like; Immunoglobulin like
    pfam16735
    Location:272 → 325
    MYO10_CC; Unconventional myosin-X coiled coil domain

  3. NM_001197248.3 → NP_001184177.1  butyrophilin subfamily 3 member A2 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two consecutive exons in the 5' region, and initiates translation at an alternate start codon, compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AK290880, AL021917, BC020214, CD705662
    Consensus CDS
    CCDS56399.1
    UniProtKB/TrEMBL
    A8K4B5
    Related
    ENSP00000380140.3, ENST00000396934.7
    Conserved Domains (3) summary
    cd05713
    Location:22 → 121
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:14 → 120
    IG_like; Immunoglobulin like
    pfam16735
    Location:249 → 302
    MYO10_CC; Unconventional myosin-X coiled coil domain

  4. NM_001197249.3 → NP_001184178.1  butyrophilin subfamily 3 member A2 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an exon in the 5' region, and uses a downstream in-frame start codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AK290880, AK299417, AL021917, BC020214, CD705662
    Consensus CDS
    CCDS56400.1
    UniProtKB/TrEMBL
    A8K4B5
    Related
    ENSP00000442687.1, ENST00000508906.6
    Conserved Domains (3) summary
    cd05713
    Location:3 → 102
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:1 → 101
    IG_like; Immunoglobulin like
    pfam16735
    Location:230 → 283
    MYO10_CC; Unconventional myosin-X coiled coil domain

  5. NM_007047.5 → NP_008978.2  butyrophilin subfamily 3 member A2 isoform a precursor

    See identical proteins and their annotated locations for NP_008978.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1-3 encode the same isoform.
    Source sequence(s)
    AK290880, AL021917, BC020214, CD705662
    Consensus CDS
    CCDS4605.1
    UniProtKB/Swiss-Prot
    B4DRT7, B4E103, F5H791, F8W6E0, O00477, O15338, O75658, P78410, Q76PA0, Q9BU81, Q9NR44
    UniProtKB/TrEMBL
    A8K4B5
    Related
    ENSP00000366937.2, ENST00000377708.7
    Conserved Domains (3) summary
    cd05713
    Location:45 → 144
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:37 → 143
    IG_like; Immunoglobulin like
    pfam16735
    Location:272 → 325
    MYO10_CC; Unconventional myosin-X coiled coil domain

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
    26365169..26378320
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418113.1 → XP_047274069.1  butyrophilin subfamily 3 member A2 isoform X1

  2. XM_047418114.1 → XP_047274070.1  butyrophilin subfamily 3 member A2 isoform X2

    UniProtKB/Swiss-Prot
    B4DRT7, B4E103, F5H791, F8W6E0, O00477, O15338, O75658, P78410, Q76PA0, Q9BU81, Q9NR44

  3. XM_047418119.1 → XP_047274075.1  butyrophilin subfamily 3 member A2 isoform X5

  4. XM_006714979.5 → XP_006715042.1  butyrophilin subfamily 3 member A2 isoform X1

    See identical proteins and their annotated locations for XP_006715042.1

    UniProtKB/TrEMBL
    A8K4B5
    Conserved Domains (3) summary
    cd05713
    Location:45 → 144
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:37 → 143
    IG_like; Immunoglobulin like
    pfam16735
    Location:277 → 330
    MYO10_CC; Unconventional myosin-X coiled coil domain

  5. XM_047418112.1 → XP_047274068.1  butyrophilin subfamily 3 member A2 isoform X1

  6. XM_047418115.1 → XP_047274071.1  butyrophilin subfamily 3 member A2 isoform X2

    UniProtKB/Swiss-Prot
    B4DRT7, B4E103, F5H791, F8W6E0, O00477, O15338, O75658, P78410, Q76PA0, Q9BU81, Q9NR44

  7. XM_047418117.1 → XP_047274073.1  butyrophilin subfamily 3 member A2 isoform X3

  8. XM_006714980.5 → XP_006715043.1  butyrophilin subfamily 3 member A2 isoform X1

    See identical proteins and their annotated locations for XP_006715043.1

    UniProtKB/TrEMBL
    A8K4B5
    Conserved Domains (3) summary
    cd05713
    Location:45 → 144
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:37 → 143
    IG_like; Immunoglobulin like
    pfam16735
    Location:277 → 330
    MYO10_CC; Unconventional myosin-X coiled coil domain

  9. XM_005248827.5 → XP_005248884.1  butyrophilin subfamily 3 member A2 isoform X2

    See identical proteins and their annotated locations for XP_005248884.1

    UniProtKB/Swiss-Prot
    B4DRT7, B4E103, F5H791, F8W6E0, O00477, O15338, O75658, P78410, Q76PA0, Q9BU81, Q9NR44
    UniProtKB/TrEMBL
    A8K4B5
    Related
    ENSP00000380152.1, ENST00000396948.5
    Conserved Domains (3) summary
    cd05713
    Location:45 → 144
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:37 → 143
    IG_like; Immunoglobulin like
    pfam16735
    Location:272 → 325
    MYO10_CC; Unconventional myosin-X coiled coil domain

  10. XM_005248832.5 → XP_005248889.1  butyrophilin subfamily 3 member A2 isoform X4

    See identical proteins and their annotated locations for XP_005248889.1

    UniProtKB/TrEMBL
    C9JQT8
    Conserved Domains (2) summary
    cd05713
    Location:45 → 144
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:37 → 143
    IG_like; Immunoglobulin like

  11. XM_047418116.1 → XP_047274072.1  butyrophilin subfamily 3 member A2 isoform X3

  12. XM_047418118.1 → XP_047274074.1  butyrophilin subfamily 3 member A2 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    26233545..26246692
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354102.1 → XP_054210077.1  butyrophilin subfamily 3 member A2 isoform X1

  2. XM_054354105.1 → XP_054210080.1  butyrophilin subfamily 3 member A2 isoform X2

    UniProtKB/Swiss-Prot
    B4DRT7, B4E103, F5H791, F8W6E0, O00477, O15338, O75658, P78410, Q76PA0, Q9BU81, Q9NR44

  3. XM_054354111.1 → XP_054210086.1  butyrophilin subfamily 3 member A2 isoform X5

  4. XM_054354103.1 → XP_054210078.1  butyrophilin subfamily 3 member A2 isoform X1

  5. XM_054354101.1 → XP_054210076.1  butyrophilin subfamily 3 member A2 isoform X1

  6. XM_054354106.1 → XP_054210081.1  butyrophilin subfamily 3 member A2 isoform X2

    UniProtKB/Swiss-Prot
    B4DRT7, B4E103, F5H791, F8W6E0, O00477, O15338, O75658, P78410, Q76PA0, Q9BU81, Q9NR44

  7. XM_054354108.1 → XP_054210083.1  butyrophilin subfamily 3 member A2 isoform X3

  8. XM_054354100.1 → XP_054210075.1  butyrophilin subfamily 3 member A2 isoform X1

  9. XM_054354104.1 → XP_054210079.1  butyrophilin subfamily 3 member A2 isoform X2

    UniProtKB/Swiss-Prot
    B4DRT7, B4E103, F5H791, F8W6E0, O00477, O15338, O75658, P78410, Q76PA0, Q9BU81, Q9NR44

  10. XM_054354110.1 → XP_054210085.1  butyrophilin subfamily 3 member A2 isoform X4

  11. XM_054354107.1 → XP_054210082.1  butyrophilin subfamily 3 member A2 isoform X3

  12. XM_054354109.1 → XP_054210084.1  butyrophilin subfamily 3 member A2 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P78410.2 GenPept UniProtKB/Swiss-Prot:P78410

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