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Protein

Butyrophilin-like protein 2

Gene

BTNL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Negative regulator of T-cell proliferation.By similarity

Enzyme and pathway databases

ReactomeiR-HSA-8851680. Butyrophilin (BTN) family interactions.

Names & Taxonomyi

Protein namesi
Recommended name:
Butyrophilin-like protein 2
Short name:
BTL-II
Gene namesi
Name:BTNL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:1142. BTNL2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 6CytoplasmicSequence analysis6
Transmembranei7 – 23Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST17
Topological domaini24 – 455ExtracellularSequence analysisAdd BLAST432

GO - Cellular componenti

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Sarcoidosis 2 (SS2)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry. A nucleotide transition affecting a splice donor site results in the use of an alternative splice site and the production of isoform 3. Individuals expressing isoform 3 have a higher risk for sarcoidosis.
Disease descriptionAn idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved.
See also OMIM:612387

Organism-specific databases

DisGeNETi56244.
MalaCardsiBTNL2.
MIMi612387. phenotype.
OpenTargetsiENSG00000204290.
Orphaneti797. Sarcoidosis.
PharmGKBiPA25463.

Polymorphism and mutation databases

BioMutaiBTNL2.
DMDMi73921189.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000145371 – 455Butyrophilin-like protein 2Add BLAST455

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi50 ↔ 124PROSITE-ProRule annotation
Disulfide bondi164 ↔ 218PROSITE-ProRule annotation
Glycosylationi210N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi267 ↔ 341PROSITE-ProRule annotation
Glycosylationi427N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9UIR0.
PRIDEiQ9UIR0.

PTM databases

iPTMnetiQ9UIR0.
PhosphoSitePlusiQ9UIR0.

Expressioni

Tissue specificityi

Expressed in brain, heart, kidney, liver, pancreas, ovary, leukocyte, small intestine, testis and thymus.1 Publication

Inductioni

By proinflammatory cytokines such as TNF and IL1B/interleukin-1 beta.1 Publication

Gene expression databases

BgeeiENSG00000204290.
ExpressionAtlasiQ9UIR0. baseline and differential.
GenevisibleiQ9UIR0. HS.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000419512.

Structurei

3D structure databases

ProteinModelPortaliQ9UIR0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini29 – 140Ig-like V-type 1Add BLAST112
Domaini142 – 234Ig-like V-type 2Add BLAST93
Domaini236 – 355Ig-like V-type 3Add BLAST120

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IJJG. Eukaryota.
ENOG410YIB9. LUCA.
GeneTreeiENSGT00760000118933.
HOVERGENiHBG054868.
InParanoidiQ9UIR0.
PhylomeDBiQ9UIR0.
TreeFamiTF331083.

Family and domain databases

Gene3Di2.60.40.10. 4 hits.
InterProiView protein in InterPro
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003597. Ig_C1-set.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
PfamiView protein in Pfam
PF07686. V-set. 2 hits.
SMARTiView protein in SMART
SM00409. IG. 3 hits.
SM00407. IGc1. 1 hit.
SM00406. IGv. 2 hits.
SUPFAMiSSF48726. SSF48726. 4 hits.
PROSITEiView protein in PROSITE
PS50835. IG_LIKE. 3 hits.

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UIR0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVDFPGYNLS GAVASFLFIL LTMKQSEDFR VIGPAHPILA GVGEDALLTC
60 70 80 90 100
QLLPKRTTMH VEVRWYRSEP STPVFVHRDG VEVTEMQMEE YRGWVEWIEN
110 120 130 140 150
GIAKGNVALK IHNIQPSDNG QYWCHFQDGN YCGETSLLLK VAGLGSAPSI
160 170 180 190 200
HMEGPGESGV QLVCTARGWF PEPQVYWEDI RGEKLLAVSE HRIQDKDGLF
210 220 230 240 250
YAEATLVVRN ASAESVSCLV HNPVLTEEKG SVISLPEKLQ TELASLKVNG
260 270 280 290 300
PSQPILVRVG EDIQLTCYLS PKANAQSMEV RWDRSHRYPA VHVYMDGDHV
310 320 330 340 350
AGEQMAEYRG RTVLVSDAID EGRLTLQILS ARPSDDGQYR CLFEKDDVYQ
360 370 380 390 400
EASLDLKVVS LGSSPLITVE GQEDGEMQPM CSSDGWFPQP HVPWRDMEGK
410 420 430 440 450
TIPSSSQALT QGSHGLFHVQ TLLRVTNISA VDVTCSISIP FLGEEKIATF

SLSGW
Length:455
Mass (Da):50,436
Last modified:May 1, 2000 - v1
Checksum:i4194025C7416F839
GO
Isoform 2 (identifier: Q9UIR0-2) [UniParc]FASTAAdd to basket
Also known as: Long

The sequence of this isoform differs from the canonical sequence as follows:
     143-236: Missing.
     454-455: GW → ESRMTFLWKTLLVWGLLLAVAVGLPRKRS

Show »
Length:388
Mass (Da):43,373
Checksum:iC7398D15BAF5492D
GO
Isoform 3 (identifier: Q9UIR0-3) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     143-236: Missing.
     360-364: SLGSS → WVLPH
     365-455: Missing.

Show »
Length:270
Mass (Da):30,568
Checksum:i284B8285EA865323
GO
Isoform 4 (identifier: Q9UIR0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     28-237: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:245
Mass (Da):27,086
Checksum:i0141DB697EF1DDD4
GO
Isoform 5 (identifier: Q9UIR0-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-277: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:178
Mass (Da):19,831
Checksum:iBE380AD9588A90C6
GO
Isoform 6 (identifier: Q9UIR0-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     244-259: ASLKVNGPSQPILVRV → GKYEVLAHTCGGSLCP
     260-455: Missing.

Note: No experimental confirmation available.
Show »
Length:259
Mass (Da):28,660
Checksum:iBF7BA587B9FC4526
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti27Missing in AAV91023 (PubMed:15516930).Curated1
Isoform 5 (identifier: Q9UIR0-5)
Sequence conflicti83S → G in AAI19669 (PubMed:15489334).Curated1
Isoform 4 (identifier: Q9UIR0-4)
Sequence conflicti150S → G in AAI27643 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03360294W → R. Corresponds to variant dbSNP:rs28362682Ensembl.1
Natural variantiVAR_061307181R → Q. Corresponds to variant dbSNP:rs28362681Ensembl.1
Natural variantiVAR_049837188V → M. Corresponds to variant dbSNP:rs9461742Ensembl.1
Natural variantiVAR_021171196K → E1 PublicationCorresponds to variant dbSNP:rs2076523Ensembl.1
Natural variantiVAR_061308202A → V. Corresponds to variant dbSNP:rs28362680Ensembl.1
Natural variantiVAR_033603283D → V. Corresponds to variant dbSNP:rs34423804Ensembl.1
Natural variantiVAR_029128334S → L1 PublicationCorresponds to variant dbSNP:rs28362679Ensembl.1
Natural variantiVAR_033604352A → T. Corresponds to variant dbSNP:rs35037492Ensembl.1
Natural variantiVAR_049838360S → G. Corresponds to variant dbSNP:rs2076530Ensembl.1
Natural variantiVAR_033605379P → L. Corresponds to variant dbSNP:rs28362678Ensembl.1
Natural variantiVAR_033606380M → I. Corresponds to variant dbSNP:rs28362677Ensembl.1
Natural variantiVAR_033607393P → Q. Corresponds to variant dbSNP:rs41521946Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0271841 – 277Missing in isoform 5. 1 PublicationAdd BLAST277
Alternative sequenceiVSP_02718528 – 237Missing in isoform 4. 1 PublicationAdd BLAST210
Alternative sequenceiVSP_027186143 – 236Missing in isoform 2 and isoform 3. CuratedAdd BLAST94
Alternative sequenceiVSP_027187244 – 259ASLKV…ILVRV → GKYEVLAHTCGGSLCP in isoform 6. CuratedAdd BLAST16
Alternative sequenceiVSP_027188260 – 455Missing in isoform 6. CuratedAdd BLAST196
Alternative sequenceiVSP_027189360 – 364SLGSS → WVLPH in isoform 3. Curated5
Alternative sequenceiVSP_027190365 – 455Missing in isoform 3. CuratedAdd BLAST91
Alternative sequenceiVSP_027191454 – 455GW → ESRMTFLWKTLLVWGLLLAV AVGLPRKRS in isoform 2. Curated2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF186593
, AF186588, AF186589, AF186591, AF186592, AF186590 Genomic DNA. Translation: AAF05530.1.
AY881999 Genomic DNA. Translation: AAX35330.1.
AY881999 Genomic DNA. Translation: AAX35331.1.
AL034394, Z84814 Genomic DNA. Translation: CAI42180.1.
Z84814, AL034394 Genomic DNA. Translation: CAC69895.2.
AL662796 Genomic DNA. Translation: CAI18265.2.
AL670296 Genomic DNA. Translation: CAI17569.2.
AL670296 Genomic DNA. Translation: CAI17570.2.
AL935032 Genomic DNA. Translation: CAI18474.2.
AL935032 Genomic DNA. Translation: CAI18475.2.
BX255945 Genomic DNA. Translation: CAI18727.2.
CR753634 Genomic DNA. Translation: CAQ08809.1.
CR759917 Genomic DNA. Translation: CAQ07562.1.
BC119668 mRNA. Translation: AAI19669.1.
BC127642 mRNA. Translation: AAI27643.1.
AY684332 mRNA. Translation: AAV91022.1.
AY684333 mRNA. Translation: AAV91023.1.
RefSeqiNP_001291490.1. NM_001304561.1.
UniGeneiHs.534471.

Genome annotation databases

EnsembliENST00000374993; ENSP00000364132; ENSG00000204290. [Q9UIR0-1]
ENST00000544175; ENSP00000443364; ENSG00000204290. [Q9UIR0-5]
ENST00000548253; ENSP00000447733; ENSG00000224242.
ENST00000548717; ENSP00000449356; ENSG00000225412.
ENST00000548832; ENSP00000448852; ENSG00000229741. [Q9UIR0-4]
ENST00000549560; ENSP00000448550; ENSG00000226127. [Q9UIR0-5]
ENST00000549852; ENSP00000446915; ENSG00000225845.
ENST00000549943; ENSP00000449578; ENSG00000224770. [Q9UIR0-5]
ENST00000550327; ENSP00000447985; ENSG00000226127. [Q9UIR0-1]
ENST00000550531; ENSP00000448023; ENSG00000229597. [Q9UIR0-1]
ENST00000550698; ENSP00000447616; ENSG00000229597. [Q9UIR0-5]
ENST00000551095; ENSP00000449546; ENSG00000229741. [Q9UIR0-1]
ENST00000551669; ENSP00000446794; ENSG00000224242.
ENST00000551686; ENSP00000450139; ENSG00000225412.
ENST00000552479; ENSP00000449365; ENSG00000224770. [Q9UIR0-1]
ENST00000553032; ENSP00000447291; ENSG00000229741. [Q9UIR0-5]
GeneIDi56244.
KEGGihsa:56244.
UCSCiuc003obg.1. human. [Q9UIR0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiBTNL2_HUMAN
AccessioniPrimary (citable) accession number: Q9UIR0
Secondary accession number(s): A0PJV5
, B0UYW9, B0V0N6, O98261, Q08E96, Q58R22, Q58R23, Q5JYF9, Q5MP42, Q5MP43, Q5RIF8, Q5SP08, Q5SP09, Q5SRW3, Q5SRW4, Q5SU36, Q95HK0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: May 1, 2000
Last modified: August 30, 2017
This is version 126 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families