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

    Gene ID: 11118, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BTN3A2 in Genome Data Viewer
    Location:
    6p22.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (26365169..26378320)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (26233545..26246692)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    butyrophilin subfamily 3 member A2
    Names
    butyrophilin protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001197246.2NP_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:45144
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:37143
      IG_like; Immunoglobulin like
      pfam16735
      Location:272325
      MYO10_CC; Unconventional myosin-X coiled coil domain
    2. NM_001197247.3NP_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:45144
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:37143
      IG_like; Immunoglobulin like
      pfam16735
      Location:272325
      MYO10_CC; Unconventional myosin-X coiled coil domain
    3. NM_001197248.3NP_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:22121
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:14120
      IG_like; Immunoglobulin like
      pfam16735
      Location:249302
      MYO10_CC; Unconventional myosin-X coiled coil domain
    4. NM_001197249.3NP_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:3102
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:1101
      IG_like; Immunoglobulin like
      pfam16735
      Location:230283
      MYO10_CC; Unconventional myosin-X coiled coil domain
    5. NM_007047.5NP_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:45144
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:37143
      IG_like; Immunoglobulin like
      pfam16735
      Location:272325
      MYO10_CC; Unconventional myosin-X coiled coil domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_047418113.1XP_047274069.1  butyrophilin subfamily 3 member A2 isoform X1

    2. XM_047418114.1XP_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_047418119.1XP_047274075.1  butyrophilin subfamily 3 member A2 isoform X5

    4. XM_006714979.5XP_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:45144
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:37143
      IG_like; Immunoglobulin like
      pfam16735
      Location:277330
      MYO10_CC; Unconventional myosin-X coiled coil domain
    5. XM_047418112.1XP_047274068.1  butyrophilin subfamily 3 member A2 isoform X1

    6. XM_047418115.1XP_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_047418117.1XP_047274073.1  butyrophilin subfamily 3 member A2 isoform X3

    8. XM_006714980.5XP_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:45144
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:37143
      IG_like; Immunoglobulin like
      pfam16735
      Location:277330
      MYO10_CC; Unconventional myosin-X coiled coil domain
    9. XM_005248827.5XP_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:45144
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:37143
      IG_like; Immunoglobulin like
      pfam16735
      Location:272325
      MYO10_CC; Unconventional myosin-X coiled coil domain
    10. XM_005248832.5XP_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:45144
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:37143
      IG_like; Immunoglobulin like
    11. XM_047418116.1XP_047274072.1  butyrophilin subfamily 3 member A2 isoform X3

    12. XM_047418118.1XP_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_054354102.1XP_054210077.1  butyrophilin subfamily 3 member A2 isoform X1

    2. XM_054354105.1XP_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_054354111.1XP_054210086.1  butyrophilin subfamily 3 member A2 isoform X5

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

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

    6. XM_054354106.1XP_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_054354108.1XP_054210083.1  butyrophilin subfamily 3 member A2 isoform X3

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

    9. XM_054354104.1XP_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_054354110.1XP_054210085.1  butyrophilin subfamily 3 member A2 isoform X4

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

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