BTNL2 butyrophilin like 2 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 6p21.32

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (32393339..32407181, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (32246262..32260103, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (32361116..32374958, complement)

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:

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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?

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.
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.
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.
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.
Chromatin profiling of cortical neurons identifies individual epigenetic signatures in schizophrenia.
Title: Chromatin profiling of cortical neurons identifies individual epigenetic signatures in schizophrenia.
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.
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.
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.
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.
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	Compare labs

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

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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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 T cell receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of T cell receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-2 production	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-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

NG_054759.1 RefSeqGene

Range

6699..20541

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

32393339..32407181 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

3725570..3739410 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

Range

3831431..3845259 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

Range

3634397..3651900 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A1U9X7C0

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

Range

3697878..3715880 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A0G2JJ84, X5D146

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

Range

3734635..3752511 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A0G2JJ84, X5D146

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

Range

3616378..3630227 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

Range

3708807..3726683 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A0G2JJ84, X5D146

Reference GRCh38.p14 ALT_REF_LOCI_8

Genomic

NT_187692.1 Reference GRCh38.p14 ALT_REF_LOCI_8

Range

43021..60642

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A0G2JPB7

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

32246262..32260103 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.