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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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