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Q9UIR0

- BTNL2_HUMAN

UniProt

Q9UIR0 - BTNL2_HUMAN

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Protein

Butyrophilin-like protein 2

Gene
BTNL2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

Negative regulator of T-cell proliferation By similarity.

Protein family/group databases

MEROPSiI43.001.

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
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:1142. BTNL2.

Subcellular locationi

Membrane; Single-pass type II membrane protein
Note: Isoform 2 is present in the nuclear, vesicle and plasma membranes, isoform 3 is found in cytoplasmic vesicle structures and is not membrane bound.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 66Cytoplasmic Reviewed prediction
Transmembranei7 – 2317Helical; Signal-anchor for type II membrane protein; Reviewed predictionAdd
BLAST
Topological domaini24 – 455432Extracellular Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Sarcoidosis 2 (SS2) [MIM:612387]: An 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.
Note: 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.

Organism-specific databases

MIMi612387. phenotype.
Orphaneti797. Sarcoidosis.
PharmGKBiPA25463.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 455455Butyrophilin-like protein 2PRO_0000014537Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi50 ↔ 124 By similarity
Disulfide bondi164 ↔ 218 By similarity
Glycosylationi210 – 2101N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi267 ↔ 341 By similarity
Glycosylationi427 – 4271N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9UIR0.
PRIDEiQ9UIR0.

PTM databases

PhosphoSiteiQ9UIR0.

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

ArrayExpressiQ9UIR0.
BgeeiQ9UIR0.
GenevestigatoriQ9UIR0.

Organism-specific databases

HPAiHPA039844.

Interactioni

Protein-protein interaction databases

BioGridi121112. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ9UIR0.
SMRiQ9UIR0. Positions 29-236, 244-452.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini29 – 140112Ig-like V-type 1Add
BLAST
Domaini142 – 23493Ig-like V-type 2Add
BLAST
Domaini236 – 355120Ig-like V-type 3Add
BLAST

Sequence similaritiesi

Keywords - Domaini

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

Phylogenomic databases

eggNOGiNOG131805.
HOVERGENiHBG054868.
InParanoidiQ9UIR0.
OMAiHIRMERP.
PhylomeDBiQ9UIR0.
TreeFamiTF331083.

Family and domain databases

Gene3Di2.60.40.10. 4 hits.
InterProiIPR013162. CD80_C2-set.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
[Graphical view]
PfamiPF08205. C2-set_2. 2 hits.
PF07686. V-set. 2 hits.
[Graphical view]
SMARTiSM00409. IG. 2 hits.
[Graphical view]
PROSITEiPS50835. IG_LIKE. 3 hits.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. Align

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

MVDFPGYNLS GAVASFLFIL LTMKQSEDFR VIGPAHPILA GVGEDALLTC    50
QLLPKRTTMH VEVRWYRSEP STPVFVHRDG VEVTEMQMEE YRGWVEWIEN 100
GIAKGNVALK IHNIQPSDNG QYWCHFQDGN YCGETSLLLK VAGLGSAPSI 150
HMEGPGESGV QLVCTARGWF PEPQVYWEDI RGEKLLAVSE HRIQDKDGLF 200
YAEATLVVRN ASAESVSCLV HNPVLTEEKG SVISLPEKLQ TELASLKVNG 250
PSQPILVRVG EDIQLTCYLS PKANAQSMEV RWDRSHRYPA VHVYMDGDHV 300
AGEQMAEYRG RTVLVSDAID EGRLTLQILS ARPSDDGQYR CLFEKDDVYQ 350
EASLDLKVVS LGSSPLITVE GQEDGEMQPM CSSDGWFPQP HVPWRDMEGK 400
TIPSSSQALT QGSHGLFHVQ TLLRVTNISA VDVTCSISIP FLGEEKIATF 450
SLSGW 455
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.

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.

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941W → R.
Corresponds to variant rs28362682 [ dbSNP | Ensembl ].
VAR_033602
Natural varianti181 – 1811R → Q.
Corresponds to variant rs28362681 [ dbSNP | Ensembl ].
VAR_061307
Natural varianti188 – 1881V → M.
Corresponds to variant rs9461742 [ dbSNP | Ensembl ].
VAR_049837
Natural varianti196 – 1961K → E.1 Publication
Corresponds to variant rs2076523 [ dbSNP | Ensembl ].
VAR_021171
Natural varianti202 – 2021A → V.
Corresponds to variant rs28362680 [ dbSNP | Ensembl ].
VAR_061308
Natural varianti283 – 2831D → V.
Corresponds to variant rs34423804 [ dbSNP | Ensembl ].
VAR_033603
Natural varianti334 – 3341S → L.1 Publication
Corresponds to variant rs28362679 [ dbSNP | Ensembl ].
VAR_029128
Natural varianti352 – 3521A → T.
Corresponds to variant rs35037492 [ dbSNP | Ensembl ].
VAR_033604
Natural varianti360 – 3601S → G.
Corresponds to variant rs2076530 [ dbSNP | Ensembl ].
VAR_049838
Natural varianti379 – 3791P → L.
Corresponds to variant rs28362678 [ dbSNP | Ensembl ].
VAR_033605
Natural varianti380 – 3801M → I.
Corresponds to variant rs28362677 [ dbSNP | Ensembl ].
VAR_033606
Natural varianti393 – 3931P → Q.
Corresponds to variant rs41521946 [ dbSNP | Ensembl ].
VAR_033607

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 277277Missing in isoform 5. VSP_027184Add
BLAST
Alternative sequencei28 – 237210Missing in isoform 4. VSP_027185Add
BLAST
Alternative sequencei143 – 23694Missing in isoform 2 and isoform 3. VSP_027186Add
BLAST
Alternative sequencei Error

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