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BTNL2 butyrophilin like 2 [ Homo sapiens (human) ]

Gene ID: 56244, updated on 3-Apr-2024

Summary

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Official Symbol
BTNL2provided by HGNC
Official Full Name
butyrophilin like 2provided by HGNC
Primary source
HGNC:HGNC:1142
See related
Ensembl:ENSG00000204290 MIM:606000; AllianceGenome:HGNC:1142
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
SS2; BTN7; BTL-II; HSBLMHC1
Summary
This gene encodes a major histocompatibility complex, class II associated, type I transmembrane protein which belongs to the butyrophilin-like B7 family of immunoregulators. It is thought to be involved in immune surveillance, serving as a negative T-cell regulator by decreasing T-cell proliferation and cytokine release. The encoded protein contains an N-terminal signal peptide, two pairs of immunoglobulin-like domains, separated by a heptad peptide sequence, and a C-terminal transmembrane domain. Naturally occurring mutations in this gene are associated with sarcoidosis, rheumatoid arthritis, ulcerative colitis, inflammatory bowel disease, myositis, type 1 diabetes, systemic lupus erythematosus, acute coronary syndrome, and prostate cancer. [provided by RefSeq, May 2017]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
6p21.32
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (32393339..32407181, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (32246262..32260103, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32361116..32374958, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene TSBP1 and BTNL2 antisense RNA 1 Neighboring gene testis expressed basic protein 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 2 Neighboring gene MPRA-validated peak5755 silencer Neighboring gene RNA, U6 small nuclear 603, pseudogene Neighboring gene HLA complex group 23 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:32382003-32382278 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:32382475-32382623 Neighboring gene major histocompatibility complex, class II, DR alpha Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:32427819-32428319 Neighboring gene major histocompatibility complex, class II, DR beta 9 (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
  • 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. Genome-wide association study identifies BTNL2 associated with atopic asthma in children. Kim SY, et al. Medicine (Baltimore), 2021 Nov 5. PMID 34871226, Free PMC Article
  2. BTNL2 gene polymorphism and sarcoid uveitis. Chaperon M, et al. Br J Ophthalmol, 2019 Dec. PMID 30872286
  3. Atopobium and Fusobacterium as novel candidates for sarcoidosis-associated microbiota. Zimmermann A, et al. Eur Respir J, 2017 Dec. PMID 29242257
  4. SNP Variants in Major Histocompatibility Complex Are Associated with Sarcoidosis Susceptibility-A Joint Analysis in Four European Populations. Wolin A, et al. Front Immunol, 2017. PMID 28469621, Free PMC Article
  5. Altered expression of Butyrophilin (BTN) and BTN-like (BTNL) genes in intestinal inflammation and colon cancer. Lebrero-Fernández C, et al. Immun Inflamm Dis, 2016 Jun. PMID 27957327, Free PMC Article

See all (102) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genome-wide association study identifies BTNL2 associated with atopic asthma in children.
    Title: Genome-wide association study identifies BTNL2 associated with atopic asthma in children.
  2. Cancer cell-expressed BTNL2 facilitates tumour immune escape via engagement with IL-17A-producing gammadelta T cells.
    Title: Cancer cell-expressed BTNL2 facilitates tumour immune escape via engagement with IL-17A-producing γδ T cells.
  3. Shared Signature of Recent Positive Selection on the TSBP1-BTNL2-HLA-DRA Genes in Five Native Populations from North Borneo.
    Title: Shared Signature of Recent Positive Selection on the TSBP1-BTNL2-HLA-DRA Genes in Five Native Populations from North Borneo.
  4. Association of GWAS-supported noncoding area loci rs404860, rs3117098, and rs7775228 with asthma in Chinese Zhuang population.
    Title: Association of GWAS-supported noncoding area loci rs404860, rs3117098, and rs7775228 with asthma in Chinese Zhuang population.
  5. Chromatin profiling of cortical neurons identifies individual epigenetic signatures in schizophrenia.
    Title: Chromatin profiling of cortical neurons identifies individual epigenetic signatures in schizophrenia.
  6. No association was found between G16071A and the susceptibility to sarcoid uveitis. BTNL2 gene G16071A SNP seems to be a predisposing factor for sarcoidosis except in Caucasian postmenopausal women with sarcoid uveitis in whom the GG genotype prevails.
    Title: BTNL2 gene polymorphism and sarcoid uveitis.
  7. This study identified 3 novel susceptibility loci and validated 6 previously reported single nucleotide variants for ulcerative colitis through deep resequencing in Koreans and revealed the functional roles of BTNL2 and C5orf55.
    Title: Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.
  8. Host-genotype analysis revealed an association of the rs2076530 (BTNL2) risk allele with a decrease in bacterial burden in sarcoidosis.
    Title: Atopobium and Fusobacterium as novel candidates for sarcoidosis-associated microbiota.
  9. HLA-DPB1*05:01 gene was associated with the geographical region of PV and the BTNL2 gene was significantly associated with family history and age of onset of PV. In conclusion, the HLA-DPB1*05:01 and BTNL2 genes might be responsible for the complicacy of clinical features.
    Title: Correlation analysis of the HLA-DPB1*05:01 and BTNL2 genes within the histocompatibility complex region with a clinical phenotype of psoriasis vulgaris in the Chinese Han population.
  10. The sarcoidosis risk variant BTNL2 c.1078G.A (rs2076530) was associated with disease in all OFG cases (P (1/4) 0.013; OR (1/4) 1.33; 95% CI, 1.06-1.67) and had a similar OR (1.56) and the same direction of effect as seen in sarcoidosis. However, no association was seen for the subphenotypes of OFG only or OFG+CD.
    Title: Genetic Association Analysis Reveals Differences in the Contribution of NOD2 Variants to the Clinical Phenotypes of Orofacial Granulomatosis.
Submit: New GeneRIF Correction See all GeneRIFs (52)

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

Associated conditions

Description Tests
Sarcoidosis, susceptibility to, 2
MedGen: C2676468 OMIM: 612387 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.
EBI GWAS Catalog
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.
EBI GWAS Catalog
A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.
EBI GWAS Catalog
A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.
EBI GWAS Catalog
Common genetic variation and the control of HIV-1 in humans.
EBI GWAS Catalog
Frontotemporal dementia and its subtypes: a genome-wide association study.
EBI GWAS Catalog
Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.
EBI GWAS Catalog
Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.
EBI GWAS Catalog
Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.
EBI GWAS Catalog
Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
EBI GWAS Catalog
Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.
EBI GWAS Catalog
Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
EBI GWAS Catalog
Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.
EBI GWAS Catalog
Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis.
EBI GWAS Catalog
Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.
EBI GWAS Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
EBI GWAS Catalog
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
EBI GWAS Catalog
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
EBI GWAS Catalog
New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.
EBI GWAS Catalog
Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
EBI GWAS Catalog
Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.
EBI GWAS Catalog
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
EBI GWAS Catalog
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
EBI GWAS Catalog
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.
EBI GWAS Catalog
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.
EBI GWAS Catalog
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
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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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 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-like protein 2
Names
butyrophilin-like 2 (MHC class II associated)

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.

Genomic

  1. NG_054759.1 RefSeqGene

    Range
    6699..20541
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001304561.2 → NP_001291490.1  butyrophilin-like protein 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AL662796
    Consensus CDS
    CCDS78126.1
    UniProtKB/Swiss-Prot
    A0PJV5, B0UYW9, B0V0N6, F8WBA1, O98261, Q08E96, Q58R22, Q58R23, Q5JYF9, Q5MP42, Q5MP43, Q5RIF8, Q5SP08, Q5SP09, Q5SRW3, Q5SRW4, Q5SU36, Q95HK0, Q9UIR0
    UniProtKB/TrEMBL
    A0A1U9X7C0
    Related
    ENSP00000390613.3, ENST00000454136.8
    Conserved Domains (3) summary
    cd05713
    Location:260 → 358
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:252 → 358
    IG_like; Immunoglobulin like
    cl11960
    Location:148 → 229
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    32393339..32407181 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    3725570..3739410 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    3831431..3845259 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    3634397..3651900 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330320.1 → XP_054186295.1  butyrophilin-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A0PJV5, B0UYW9, B0V0N6, F8WBA1, O98261, Q08E96, Q58R22, Q58R23, Q5JYF9, Q5MP42, Q5MP43, Q5RIF8, Q5SP08, Q5SP09, Q5SRW3, Q5SRW4, Q5SU36, Q95HK0, Q9UIR0

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    3697878..3715880 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330617.1 → XP_054186592.1  butyrophilin-like protein 2 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JJ84

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    3734635..3752511 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330837.1 → XP_054186812.1  butyrophilin-like protein 2 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JJ84

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    3616378..3630227 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    3708807..3726683 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331368.1 → XP_054187343.1  butyrophilin-like protein 2 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JJ84

Reference GRCh38.p14 ALT_REF_LOCI_8

Genomic

  1. NT_187692.1 Reference GRCh38.p14 ALT_REF_LOCI_8

    Range
    43021..60642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333510.1 → XP_054189485.1  butyrophilin-like protein 2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    32246262..32260103 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_019602.1: Suppressed sequence

    Description
    NM_019602.1: This RefSeq was permanently suppressed because the transcript appears to be partial at the 3' end and the protein C-terminus is incomplete.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UIR0.2 GenPept UniProtKB/Swiss-Prot:Q9UIR0

Gene LinkOut

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