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BTNL2 butyrophilin like 2 [ Homo sapiens (human) ]

Gene ID: 56244, updated on 25-Jan-2022

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
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Genomic context

See BTNL2 in Genome Data Viewer
Location:
6p21.32
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (32393339..32408879, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32361116..32374907, 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 RNA, U6 small nuclear 603, pseudogene Neighboring gene HLA complex group 23 Neighboring gene major histocompatibility complex, class II, DR alpha Neighboring gene major histocompatibility complex, class II, DR beta 9 (pseudogene)

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?

Phenotypes

Associated conditions

Description Tests
Sarcoidosis 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in T cell receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of cytokine production IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
butyrophilin-like protein 2
Names
butyrophilin-like 2 (MHC class II associated)
truncated BTNL2

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
    6750..20541
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AL662796
    Consensus CDS
    CCDS78126.1
    UniProtKB/Swiss-Prot
    Q9UIR0
    UniProtKB/TrEMBL
    A0PJV4, F8WBA1
    Related
    ENSP00000390613.3, ENST00000454136.8
    Conserved Domains (3) summary
    cd05713
    Location:260358
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:252358
    IG_like; Immunoglobulin like
    cl11960
    Location:148229
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    32393339..32408879 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011057.1XP_016866546.1  butyrophilin-like protein 2 isoform X1

    UniProtKB/TrEMBL
    F8WBA1
    Conserved Domains (3) summary
    cd05713
    Location:260358
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:252358
    IG_like; Immunoglobulin like
    cl11960
    Location:148229
    Ig; Immunoglobulin domain

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

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

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

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

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    3634430..3648259 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    3698332..3712198 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    3735089..3748936 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

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

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    3709261..3723108 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_8

Genomic

  1. NT_187692.1 Reference GRCh38.p13 ALT_REF_LOCI_8

    Range
    46775..60642
    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.
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