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BTN2A1 butyrophilin subfamily 2 member A1 [ Homo sapiens (human) ]

Gene ID: 11120, updated on 7-Jun-2020

Summary

Official Symbol
BTN2A1provided by HGNC
Official Full Name
butyrophilin subfamily 2 member A1provided by HGNC
Primary source
HGNC:HGNC:1136
See related
Ensembl:ENSG00000112763 MIM:613590
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
BTF1; BT2.1; BTN2.1; DJ3E1.1; BK14H9.1
Summary
This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
Expression
Ubiquitous expression in spleen (RPKM 14.7), appendix (RPKM 11.4) and 25 other tissues See more
Orthologs

Genomic context

See BTN2A1 in Genome Data Viewer
Location:
6p22.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (26457904..26476622)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (26458132..26476849)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene butyrophilin subfamily 2 member A3, pseudogene Neighboring gene butyrophilin subfamily 3 member A3 Neighboring gene uncharacterized LOC285819 Neighboring gene CRISPRi-validated cis-regulatory element chr6.1165 Neighboring gene butyrophilin subfamily 1 member A1 pseudogene 1 Neighboring gene uncharacterized LOC107986583 Neighboring gene butyrophilin subfamily 1 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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36567

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
T cell receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
regulation of cytokine production IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
butyrophilin subfamily 2 member A1

NCBI Reference Sequences (RefSeq)

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_001197233.2NP_001184162.1  butyrophilin subfamily 2 member A1 isoform 3

    See identical proteins and their annotated locations for NP_001184162.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK297098, BC016661, BX452202, DC348937, HY157783
    Consensus CDS
    CCDS56405.1
    UniProtKB/Swiss-Prot
    Q7KYR7
    Related
    ENSP00000443909.1, ENST00000541522.5
    Conserved Domains (2) summary
    cd05713
    Location:182
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    cd15819
    Location:266439
    SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)
  2. NM_001197234.3NP_001184163.1  butyrophilin subfamily 2 member A1 isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate 3'-terminal exon, compared to variant 1. The encoded isoform (4) is shorter and has a unique C-terminus, compared to isoform 1.
    Source sequence(s)
    AB209777, AL121936, DC348937, HY157783
    Consensus CDS
    CCDS56404.1
    UniProtKB/Swiss-Prot
    Q7KYR7
    Related
    ENSP00000419043.1, ENST00000469185.5
    Conserved Domains (2) summary
    cd05713
    Location:44143
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:38142
    IG_like; Immunoglobulin like
  3. NM_007049.5NP_008980.1  butyrophilin subfamily 2 member A1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_008980.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    DC348937, HY157783, U90543
    Consensus CDS
    CCDS4613.1
    UniProtKB/Swiss-Prot
    Q7KYR7
    Related
    ENSP00000312158.5, ENST00000312541.10
    Conserved Domains (3) summary
    cd05713
    Location:44143
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:38142
    IG_like; Immunoglobulin like
    cd15819
    Location:327500
    SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)
  4. NM_078476.4NP_510961.1  butyrophilin subfamily 2 member A1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_510961.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) This variant (2) uses an alternate splice site on the 3'-most exon, compared to variant 1. The encoded isoform (2) is shorter and has a unique C-terminus compared to isoform 1.
    Source sequence(s)
    BC016661, DC348937, HY157783
    Consensus CDS
    CCDS47390.1
    UniProtKB/Swiss-Prot
    Q7KYR7
    Related
    ENSP00000416945.1, ENST00000429381.5
    Conserved Domains (2) summary
    cd05713
    Location:44143
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    cl25602
    Location:251330
    DUF3552; Domain of unknown function (DUF3552)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    26457904..26476622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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