BTN3A1 (butyrophilin subfamily 3 member A1)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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11119 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Butyrophilin subfamily 3 member A1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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BTN3A1 |
SynonymsGene synonyms aliases
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BT3.1, BTF5, BTN3.1, CD277 |
ChromosomeChromosome number
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6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6p22.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of hum |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
O00481 |
Protein name |
Butyrophilin subfamily 3 member A1 (CD antigen CD277) |
Protein function |
Plays a role in T-cell activation and in the adaptive immune response. Regulates the proliferation of activated T-cells. Regulates the release of cytokines and IFNG by activated T-cells. Mediates the response of T-cells toward infected and trans |
PDB |
4F80
,
4F9L
,
4F9P
,
4JKW
,
4K55
,
4N7I
,
4N7U
,
4V1P
,
5HM7
,
5LYG
,
5LYK
,
5ZXK
,
6ISM
,
6ITA
,
6J06
,
6XLQ
,
8DFX
,
8IXV
,
8IZE
,
8IZG
,
8JYC
,
8JYE
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF07686 |
V-set |
35 → 144 |
Immunoglobulin V-set domain |
Domain |
PF13765 |
PRY |
342 → 390 |
SPRY-associated domain |
Family |
PF00622 |
SPRY |
394 → 505 |
SPRY domain |
Family |
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Sequence |
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Sequence length |
513 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Lung carcinoma |
Small cell carcinoma of lung, Carcinoma of lung |
rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193 |
28604730 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
26198764, 28540026 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Development disorder |
Child Development Disorders, Pervasive |
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28540026 |
Mental depression |
Major Depressive Disorder |
rs587778876, rs587778877 |
29662059 |
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