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Q9UIR0 (BTNL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Butyrophilin-like protein 2

Short name=BTL-II
Gene names
Name:BTNL2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length455 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Negative regulator of T-cell proliferation By similarity.

Subcellular location

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. Ref.2

Tissue specificity

Expressed in brain, heart, kidney, liver, pancreas, ovary, leukocyte, small intestine, testis and thymus. Ref.2

Induction

By proinflammatory cytokines such as TNF and IL1B/interleukin-1 beta. Ref.2

Involvement in disease

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.

Sequence similarities

Belongs to the immunoglobulin superfamily. BTN/MOG family.

Contains 3 Ig-like V-type (immunoglobulin-like) domains.

Ontologies

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UIR0-1)

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.
Isoform 2 (identifier: Q9UIR0-2)

Also known as: Long;

The sequence of this isoform differs from the canonical sequence as follows:
     143-236: Missing.
     454-455: GW → ESRMTFLWKTLLVWGLLLAVAVGLPRKRS
Isoform 3 (identifier: Q9UIR0-3)

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.
Isoform 4 (identifier: Q9UIR0-4)

The sequence of this isoform differs from the canonical sequence as follows:
     28-237: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q9UIR0-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-277: Missing.
Note: No experimental confirmation available.
Isoform 6 (identifier: Q9UIR0-6)

The sequence of this isoform differs from the canonical sequence as follows:
     244-259: ASLKVNGPSQPILVRV → GKYEVLAHTCGGSLCP
     260-455: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 455455Butyrophilin-like protein 2
PRO_0000014537

Regions

Topological domain1 – 66Cytoplasmic Potential
Transmembrane7 – 2317Helical; Signal-anchor for type II membrane protein; Potential
Topological domain24 – 455432Extracellular Potential
Domain29 – 140112Ig-like V-type 1
Domain142 – 23493Ig-like V-type 2
Domain236 – 355120Ig-like V-type 3

Amino acid modifications

Glycosylation2101N-linked (GlcNAc...) Potential
Glycosylation4271N-linked (GlcNAc...) Potential
Disulfide bond50 ↔ 124 By similarity
Disulfide bond164 ↔ 218 By similarity
Disulfide bond267 ↔ 341 By similarity

Natural variations

Alternative sequence1 – 277277Missing in isoform 5.
VSP_027184
Alternative sequence28 – 237210Missing in isoform 4.
VSP_027185
Alternative sequence143 – 23694Missing in isoform 2 and isoform 3.
VSP_027186
Alternative sequence244 – 25916ASLKV…ILVRV → GKYEVLAHTCGGSLCP in isoform 6.
VSP_027187
Alternative sequence260 – 455196Missing in isoform 6.
VSP_027188
Alternative sequence360 – 3645SLGSS → WVLPH in isoform 3.
VSP_027189
Alternative sequence365 – 45591Missing in isoform 3.
VSP_027190
Alternative sequence454 – 4552GW → ESRMTFLWKTLLVWGLLLAV AVGLPRKRS in isoform 2.
VSP_027191
Natural variant941W → R.
Corresponds to variant rs28362682 [ dbSNP | Ensembl ].
VAR_033602
Natural variant1811R → Q.
Corresponds to variant rs28362681 [ dbSNP | Ensembl ].
VAR_061307
Natural variant1881V → M.
Corresponds to variant rs9461742 [ dbSNP | Ensembl ].
VAR_049837
Natural variant1961K → E. Ref.4
Corresponds to variant rs2076523 [ dbSNP | Ensembl ].
VAR_021171
Natural variant2021A → V.
Corresponds to variant rs28362680 [ dbSNP | Ensembl ].
VAR_061308
Natural variant2831D → V.
Corresponds to variant rs34423804 [ dbSNP | Ensembl ].
VAR_033603
Natural variant3341S → L. Ref.4
Corresponds to variant rs28362679 [ dbSNP | Ensembl ].
VAR_029128
Natural variant3521A → T.
Corresponds to variant rs35037492 [ dbSNP | Ensembl ].
VAR_033604
Natural variant3601S → G.
Corresponds to variant rs2076530 [ dbSNP | Ensembl ].
VAR_049838
Natural variant3791P → L.
Corresponds to variant rs28362678 [ dbSNP | Ensembl ].
VAR_033605
Natural variant3801M → I.
Corresponds to variant rs28362677 [ dbSNP | Ensembl ].
VAR_033606
Natural variant3931P → Q.
Corresponds to variant rs41521946 [ dbSNP | Ensembl ].
VAR_033607

Experimental info

Sequence conflict271Missing in AAV91023. Ref.6
Isoform 4:
Sequence conflict1501S → G in AAI27643. Ref.5
Isoform 5:
Sequence conflict831S → G in AAI19669. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 4194025C7416F839

FASTA45550,436
        10         20         30         40         50         60 
MVDFPGYNLS GAVASFLFIL LTMKQSEDFR VIGPAHPILA GVGEDALLTC QLLPKRTTMH 

        70         80         90        100        110        120 
VEVRWYRSEP STPVFVHRDG VEVTEMQMEE YRGWVEWIEN GIAKGNVALK IHNIQPSDNG 

       130        140        150        160        170        180 
QYWCHFQDGN YCGETSLLLK VAGLGSAPSI HMEGPGESGV QLVCTARGWF PEPQVYWEDI 

       190        200        210        220        230        240 
RGEKLLAVSE HRIQDKDGLF YAEATLVVRN ASAESVSCLV HNPVLTEEKG SVISLPEKLQ 

       250        260        270        280        290        300 
TELASLKVNG PSQPILVRVG EDIQLTCYLS PKANAQSMEV RWDRSHRYPA VHVYMDGDHV 

       310        320        330        340        350        360 
AGEQMAEYRG RTVLVSDAID EGRLTLQILS ARPSDDGQYR CLFEKDDVYQ EASLDLKVVS 

       370        380        390        400        410        420 
LGSSPLITVE GQEDGEMQPM CSSDGWFPQP HVPWRDMEGK TIPSSSQALT QGSHGLFHVQ 

       430        440        450 
TLLRVTNISA VDVTCSISIP FLGEEKIATF SLSGW 

« Hide

Isoform 2 (Long) [UniParc].

Checksum: C7398D15BAF5492D
Show »

FASTA38843,373
Isoform 3 (Short) [UniParc].

Checksum: 284B8285EA865323
Show »

FASTA27030,568
Isoform 4 [UniParc].

Checksum: 0141DB697EF1DDD4
Show »

FASTA24527,086
Isoform 5 [UniParc].

Checksum: BE380AD9588A90C6
Show »

FASTA17819,831
Isoform 6 [UniParc].

Checksum: BF7BA587B9FC4526
Show »

FASTA25928,660

References

« Hide 'large scale' references
[1]"BTL-II: a polymorphic locus with homology to the butyrophilin gene family, located at the border of the major histocompatibility complex class II and class III regions in human and mouse."
Stammers M., Rowen L., Rhodes D., Trowsdale J., Beck S.
Immunogenetics 51:373-382(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"Sarcoidosis is associated with a truncating splice site mutation in BTNL2."
Valentonyte R., Hampe J., Huse K., Rosenstiel P., Albrecht M., Stenzel A., Nagy M., Gaede K.I., Franke A., Haesler R., Koch A., Lengauer T., Seegert D., Reiling N., Ehlers S., Schwinger E., Platzer M., Krawczak M. expand/collapse author list , Mueller-Quernheim J., Schuermann M., Schreiber S.
Nat. Genet. 37:357-364(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], SUBCELLULAR LOCATION, ALTERNATIVE SPLICING, TISSUE SPECIFICITY, INDUCTION, INVOLVEMENT IN SUSCEPTIBILITY TO SARCOIDOSIS TYPE 2.
[3]Erratum
Valentonyte R., Hampe J., Huse K., Rosenstiel P., Albrecht M., Stenzel A., Nagy M., Gaede K.I., Franke A., Haesler R., Koch A., Lengauer T., Seegert D., Reiling N., Ehlers S., Schwinger E., Platzer M., Krawczak M. expand/collapse author list , Mueller-Quernheim J., Schuermann M., Schreiber S.
Nat. Genet. 37:652-652(2005)
[4]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS GLU-196 AND LEU-334.
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 5).
[6]"Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity."
Hiller M., Huse K., Szafranski K., Jahn N., Hampe J., Schreiber S., Backofen R., Platzer M.
Nat. Genet. 36:1255-1257(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-109 (ISOFORMS 1/2/3/6).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF186593 expand/collapse EMBL AC list , 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.
RefSeqNP_062548.1. NM_019602.1.
UniGeneHs.534471.

3D structure databases

ProteinModelPortalQ9UIR0.
SMRQ9UIR0. Positions 29-236, 244-452.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121112. 1 interaction.

Protein family/group databases

MEROPSI43.001.

PTM databases

PhosphoSiteQ9UIR0.

Polymorphism databases

DMDM73921189.

Proteomic databases

PaxDbQ9UIR0.
PRIDEQ9UIR0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000374993; ENSP00000364132; ENSG00000204290. [Q9UIR0-1]
ENST00000414363; ENSP00000390512; ENSG00000204290. [Q9UIR0-4]
ENST00000416597; ENSP00000415396; ENSG00000224770. [Q9UIR0-6]
ENST00000422056; ENSP00000416544; ENSG00000229597. [Q9UIR0-6]
ENST00000445928; ENSP00000399884; ENSG00000226127. [Q9UIR0-6]
ENST00000447918; ENSP00000414811; ENSG00000229741. [Q9UIR0-6]
ENST00000544175; ENSP00000443364; ENSG00000204290. [Q9UIR0-5]
ENST00000548253; ENSP00000447733; ENSG00000224242.
ENST00000548717; ENSP00000449356; ENSG00000225412.
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.
ENST00000551868; ENSP00000449148; ENSG00000229597. [Q9UIR0-4]
ENST00000552479; ENSP00000449365; ENSG00000224770. [Q9UIR0-1]
GeneID56244.
KEGGhsa:56244.
UCSCuc003obg.1. human. [Q9UIR0-1]
uc010jua.1. human. [Q9UIR0-4]

Organism-specific databases

CTD56244.
GeneCardsGC06M032359.
GC06Mi32371.
GC06Mj32308.
GC06Mk32336.
GC06Ml32400.
GC06Mn32318.
GC06Mo32367.
H-InvDBHIX0164795.
HIX0165959.
HIX0166164.
HIX0166450.
HIX0166717.
HIX0166977.
HIX0167211.
HIX0167458.
HGNCHGNC:1142. BTNL2.
HPAHPA039844.
MIM606000. gene.
612387. phenotype.
neXtProtNX_Q9UIR0.
Orphanet797. Sarcoidosis.
PharmGKBPA25463.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG131805.
HOVERGENHBG054868.
InParanoidQ9UIR0.
OMAHIRMERP.
PhylomeDBQ9UIR0.
TreeFamTF331083.

Gene expression databases

ArrayExpressQ9UIR0.
BgeeQ9UIR0.
GenevestigatorQ9UIR0.

Family and domain databases

Gene3D2.60.40.10. 4 hits.
InterProIPR013162. CD80_C2-set.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
[Graphical view]
PfamPF08205. C2-set_2. 2 hits.
PF07686. V-set. 2 hits.
[Graphical view]
SMARTSM00409. IG. 2 hits.
[Graphical view]
PROSITEPS50835. IG_LIKE. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiBTNL2.
GenomeRNAi56244.
NextBio61864.
PROQ9UIR0.
SOURCESearch...

Entry information

Entry nameBTNL2_HUMAN
AccessionPrimary (citable) accession number: Q9UIR0
Secondary accession number(s): A0PJV5 expand/collapse secondary AC list , B0UYW9, B0V0N6, O98261, Q08E96, Q58R22, Q58R23, Q5JYF9, Q5MP42, Q5MP43, Q5RIF8, Q5SP08, Q5SP09, Q5SRW3, Q5SRW4, Q5SU36, Q95HK0
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: May 1, 2000
Last modified: March 19, 2014
This is version 100 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM