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

Gene ID: 11118, updated on 5-Aug-2022

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
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Genomic context

See BTN3A2 in Genome Data Viewer
Location:
6p22.2
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (26365169..26378320)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (26233574..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 LOC124901288 Neighboring gene CRISPRi-validated cis-regulatory element chr6.1147 Neighboring gene U6 spliceosomal RNA Neighboring gene butyrophilin subfamily 2 member A2 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

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
PubMed 
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
PubMed 
involved_in positive regulation of interferon-gamma production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cytokine production IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
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
    P78410, Q9NR44
    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
    P78410, 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/Swiss-Prot
    P78410
    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/Swiss-Prot
    P78410
    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
    P78410, 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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    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

    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
    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

    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
    P78410, Q9NR44
    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

    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
    26233574..26246692
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)