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Protein

Butyrophilin-like protein 2

Gene

BTNL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

EuPathDBiHostDB:ENSG00000204290.10
HGNCiHGNC:1142 BTNL2
MIMi606000 gene
neXtProtiNX_Q9UIR0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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

EPDiQ9UIR0
PaxDbiQ9UIR0
PRIDEiQ9UIR0
ProteomicsDBi84554
84555 [Q9UIR0-2]
84556 [Q9UIR0-3]
84557 [Q9UIR0-4]
84558 [Q9UIR0-5]
84559 [Q9UIR0-6]

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 Expressed in 66 organ(s), highest expression level in amygdala
ExpressionAtlasiQ9UIR0 baseline and differential
GenevisibleiQ9UIR0 HS

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000419512

Structurei

3D structure databases

ProteinModelPortaliQ9UIR0
SMRiQ9UIR0
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
IPR036179 Ig-like_dom_sf
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

This entry has 6 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WBA1F8WBA1_HUMAN
Butyrophilin-like protein 2
BTNL2
482Annotation score:
F6UPS5F6UPS5_HUMAN
Butyrophilin-like protein 2
BTNL2
108Annotation score:
F8WDK6F8WDK6_HUMAN
Butyrophilin-like protein 2
BTNL2
68Annotation score:
A0A0G2JJ84A0A0G2JJ84_HUMAN
Butyrophilin-like protein 2
BTNL2
482Annotation score:
A0A0G2JPB7A0A0G2JPB7_HUMAN
BTNL2
BTNL2
455Annotation score:
A0A0G2JME2A0A0G2JME2_HUMAN
Butyrophilin-like protein 2
BTNL2
178Annotation score:
X5D146X5D146_HUMAN
BTNL2
BTNL2
455Annotation score:

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 No translation available.
AL670296 Genomic DNA No translation available.
AL935032 Genomic DNA No translation available.
BX255945 Genomic DNA No translation available.
CR753634 Genomic DNA No translation available.
CR759917 Genomic DNA No translation available.
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

Cross-referencesi

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 No translation available.
AL670296 Genomic DNA No translation available.
AL935032 Genomic DNA No translation available.
BX255945 Genomic DNA No translation available.
CR753634 Genomic DNA No translation available.
CR759917 Genomic DNA No translation available.
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

3D structure databases

ProteinModelPortaliQ9UIR0
SMRiQ9UIR0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000419512

PTM databases

iPTMnetiQ9UIR0
PhosphoSitePlusiQ9UIR0

Polymorphism and mutation databases

BioMutaiBTNL2
DMDMi73921189

Proteomic databases

EPDiQ9UIR0
PaxDbiQ9UIR0
PRIDEiQ9UIR0
ProteomicsDBi84554
84555 [Q9UIR0-2]
84556 [Q9UIR0-3]
84557 [Q9UIR0-4]
84558 [Q9UIR0-5]
84559 [Q9UIR0-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi56244
DisGeNETi56244
EuPathDBiHostDB:ENSG00000204290.10
GeneCardsiBTNL2
H-InvDBiHIX0164795
HIX0165959
HIX0166164
HIX0166450
HIX0166717
HIX0166977
HIX0167211
HIX0167458
HGNCiHGNC:1142 BTNL2
MalaCardsiBTNL2
MIMi606000 gene
612387 phenotype
neXtProtiNX_Q9UIR0
OpenTargetsiENSG00000204290
Orphaneti797 Sarcoidosis
PharmGKBiPA25463
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJJG Eukaryota
ENOG410YIB9 LUCA
GeneTreeiENSGT00760000118933
HOVERGENiHBG054868
InParanoidiQ9UIR0
PhylomeDBiQ9UIR0
TreeFamiTF331083

Enzyme and pathway databases

ReactomeiR-HSA-8851680 Butyrophilin (BTN) family interactions

Miscellaneous databases

GeneWikiiBTNL2
GenomeRNAii56244
PROiPR:Q9UIR0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204290 Expressed in 66 organ(s), highest expression level in amygdala
ExpressionAtlasiQ9UIR0 baseline and differential
GenevisibleiQ9UIR0 HS

Family and domain databases

Gene3Di2.60.40.10, 4 hits
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
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
ProtoNetiSearch...

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: September 12, 2018
This is version 132 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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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