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

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; AllianceGenome:HGNC:1136
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: all
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Genomic context

Location:: 6p22.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (26457955..26476622)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (26326320..26345007)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (26458183..26476850)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phosphoantigens glue butyrophilin 3A1 and 2A1 to activate Vgamma9Vdelta2 T cells.
Title: Phosphoantigens glue butyrophilin 3A1 and 2A1 to activate Vγ9Vδ2 T cells.
Mutations to the BTN2A1 Linker Region Impact Its Homodimerization and Its Cytoplasmic Interaction with Phospho-Antigen-Bound BTN3A1.
Title: Mutations to the BTN2A1 Linker Region Impact Its Homodimerization and Its Cytoplasmic Interaction with Phospho-Antigen-Bound BTN3A1.
BTN3A Targeting Vgamma9Vdelta2 T Cells Antimicrobial Activity Against Coxiella burnetii-Infected Cells.
Title: BTN3A Targeting Vγ9Vδ2 T Cells Antimicrobial Activity Against Coxiella burnetii-Infected Cells.
BTN2A1, an immune checkpoint targeting Vgamma9Vdelta2 T cell cytotoxicity against malignant cells.
Title: BTN2A1, an immune checkpoint targeting Vγ9Vδ2 T cell cytotoxicity against malignant cells.
The intracellular domain of BTN2A1 binds to the intracellular domain of BTN3A1 only in the presence of phosphoantigen.
Title: Ligand-induced interactions between butyrophilin 2A1 and 3A1 internal domains in the HMBPP receptor complex.
Soluble BTN2A1 Is a Potential Prognosis Biomarker in Pre-Treated Advanced Renal Cell Carcinoma.
Title: Soluble BTN2A1 Is a Potential Prognosis Biomarker in Pre-Treated Advanced Renal Cell Carcinoma.
A comparison of the allele frequencies or genotype distributions by the chi2 test revealed that rs6929846 of BTN2A1 was significantly associated with dyslipidemia.
Title: Association of a polymorphism of BTN2A1 with dyslipidemia in community-dwelling individuals.
BTN2A1 may be a susceptibility gene for myocardial infarction in Japanese individuals.
Title: Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.
Genetic variants of APOA5 and BTN2A1 may synergistically affect the prevalence of dyslipidemia in East Asian populations and of metabolic syndrome in Japanese individuals.
Title: Synergistic effects of genetic variants of APOA5 and BTN2A1 on dyslipidemia or metabolic syndrome.
BTN2A1 may be a susceptibility gene for Type 2 diabetes in Japanese individuals
Title: Association of a polymorphism of BTN2A1 with type 2 diabetes mellitus in Japanese individuals.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46612 (e-PCR)
- UniSTS:77093

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D6S1239E (e-PCR)
- UniSTS:15788

RH26411 (e-PCR)
- UniSTS:90559

NoName (e-PCR)
- UniSTS:481013

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in T cell receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid metabolic process	TAS Traceable Author Statement 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 plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: butyrophilin subfamily 2 member A1

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)

NM_001197233.3 → NP_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, DC348937, HY157783

Consensus CDS

CCDS56405.1

UniProtKB/Swiss-Prot

Q7KYR7

Related

ENSP00000443909.1, ENST00000541522.5

Conserved Domains (2) summary

cd05713
Location:1 → 82

Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)

cd15819
Location:266 → 439

SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)
NM_001197234.3 → NP_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:44 → 143

Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)

smart00410
Location:38 → 142

IG_like; Immunoglobulin like
NM_007049.5 → NP_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

B4DLP9, E9PGR4, O00475, P78408, Q59EN4, Q7KYQ7, Q7KYR7, Q7Z386, Q96AV7, Q9NU62

Related

ENSP00000312158.5, ENST00000312541.10

Conserved Domains (3) summary

cd05713
Location:44 → 143

Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)

smart00410
Location:38 → 142

IG_like; Immunoglobulin like

cd15819
Location:327 → 500

SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)
NM_078476.4 → NP_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:44 → 143

Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)

cl25602
Location:251 → 330

DUF3552; Domain of unknown function (DUF3552)