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

    Gene ID: 10385, updated on 28-Oct-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
    mouse 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_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (26383108..26394874)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (26250301..26263238)
    RS_2024_09 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 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. Structure and evolution of the extended B7 family. Henry J, et al. Immunol Today, 1999 Jun. PMID 10354554
    2. 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
    3. Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3 genes in colon cancers. Kim JW, et al. Pathol Res Pract, 2023 Sep. PMID 37634314
    4. 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
    5. The cluster of BTN genes in the extended major histocompatibility complex. Rhodes DA, et al. Genomics, 2001 Feb 1. PMID 11170752

    See all (22) 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_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
      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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