Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10385
Gene name	Butyrophilin subfamily 2 member A2
Gene symbol	BTN2A2
Synonyms (NCBI Gene)	BT2.2BTF2BTN2.2
Chromosome	6
Chromosome location	6p22.2
Summary	Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consist

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miRTarBase ID	miRNA	Experiments	Reference
MIRT437530	hsa-miR-19b-3p	Immunoprecipitaion	22382630
MIRT572501	hsa-miR-4512	PAR-CLIP	20371350
MIRT572500	hsa-miR-3918	PAR-CLIP	20371350
MIRT572498	hsa-miR-4685-5p	PAR-CLIP	20371350
MIRT572499	hsa-miR-6837-5p	PAR-CLIP	20371350
MIRT572497	hsa-miR-1915-3p	PAR-CLIP	20371350
MIRT572496	hsa-miR-6764-5p	PAR-CLIP	20371350
MIRT572495	hsa-miR-660-3p	PAR-CLIP	20371350
MIRT572494	hsa-miR-4324	PAR-CLIP	20371350
MIRT572493	hsa-miR-4251	PAR-CLIP	20371350
MIRT572492	hsa-miR-589-5p	PAR-CLIP	20371350
MIRT572491	hsa-miR-146a-5p	PAR-CLIP	20371350
MIRT572490	hsa-miR-146b-5p	PAR-CLIP	20371350
MIRT572489	hsa-miR-7153-5p	PAR-CLIP	20371350
MIRT572488	hsa-miR-6791-3p	PAR-CLIP	20371350
MIRT572486	hsa-miR-6829-3p	PAR-CLIP	20371350
MIRT572501	hsa-miR-4512	PAR-CLIP	20371350
MIRT572500	hsa-miR-3918	PAR-CLIP	20371350
MIRT572498	hsa-miR-4685-5p	PAR-CLIP	20371350
MIRT572499	hsa-miR-6837-5p	PAR-CLIP	20371350
MIRT572497	hsa-miR-1915-3p	PAR-CLIP	20371350
MIRT572496	hsa-miR-6764-5p	PAR-CLIP	20371350
MIRT572495	hsa-miR-660-3p	PAR-CLIP	20371350
MIRT572494	hsa-miR-4324	PAR-CLIP	20371350
MIRT572493	hsa-miR-4251	PAR-CLIP	20371350
MIRT572492	hsa-miR-589-5p	PAR-CLIP	20371350
MIRT572491	hsa-miR-146a-5p	PAR-CLIP	20371350
MIRT572490	hsa-miR-146b-5p	PAR-CLIP	20371350
MIRT572489	hsa-miR-7153-5p	PAR-CLIP	20371350
MIRT572488	hsa-miR-6791-3p	PAR-CLIP	20371350
MIRT572486	hsa-miR-6829-3p	PAR-CLIP	20371350
MIRT827336	hsa-miR-146a	CLIP-seq
MIRT827337	hsa-miR-1912	CLIP-seq
MIRT827338	hsa-miR-1915	CLIP-seq
MIRT827339	hsa-miR-329	CLIP-seq
MIRT827340	hsa-miR-362-3p	CLIP-seq
MIRT827341	hsa-miR-409-3p	CLIP-seq
MIRT827342	hsa-miR-589	CLIP-seq
MIRT827343	hsa-miR-3173-3p	CLIP-seq
MIRT827344	hsa-miR-3691-3p	CLIP-seq
MIRT827345	hsa-miR-4428	CLIP-seq
MIRT827346	hsa-miR-4477a	CLIP-seq
MIRT827347	hsa-miR-4477b	CLIP-seq
MIRT827348	hsa-miR-4662a-5p	CLIP-seq
MIRT827349	hsa-miR-4729	CLIP-seq
MIRT827350	hsa-miR-4757-5p	CLIP-seq
MIRT2183268	hsa-miR-2964a-5p	CLIP-seq
MIRT2183269	hsa-miR-298	CLIP-seq
MIRT2183270	hsa-miR-4433	CLIP-seq
MIRT2183271	hsa-miR-4436b-3p	CLIP-seq
MIRT2183272	hsa-miR-4502	CLIP-seq
MIRT2183273	hsa-miR-4762-3p	CLIP-seq
MIRT2183274	hsa-miR-665	CLIP-seq
MIRT2444915	hsa-miR-1253	CLIP-seq
MIRT2444916	hsa-miR-185	CLIP-seq
MIRT2444917	hsa-miR-3150b-3p	CLIP-seq
MIRT2444918	hsa-miR-4306	CLIP-seq
MIRT2444919	hsa-miR-4644	CLIP-seq
MIRT2444920	hsa-miR-4784	CLIP-seq
MIRT2444921	hsa-miR-520a-5p	CLIP-seq
MIRT2444922	hsa-miR-525-5p	CLIP-seq
MIRT2676117	hsa-miR-1273g	CLIP-seq
MIRT2676118	hsa-miR-1279	CLIP-seq
MIRT2676119	hsa-miR-1298	CLIP-seq
MIRT2676120	hsa-miR-137	CLIP-seq
MIRT2676121	hsa-miR-1587	CLIP-seq
MIRT2676122	hsa-miR-1909	CLIP-seq
MIRT827338	hsa-miR-1915	CLIP-seq
MIRT2676123	hsa-miR-2116	CLIP-seq
MIRT2676124	hsa-miR-25	CLIP-seq
MIRT2676125	hsa-miR-32	CLIP-seq
MIRT2676126	hsa-miR-3200-5p	CLIP-seq
MIRT2676127	hsa-miR-363	CLIP-seq
MIRT2676128	hsa-miR-367	CLIP-seq
MIRT2676129	hsa-miR-4303	CLIP-seq
MIRT2676130	hsa-miR-4645-5p	CLIP-seq
MIRT2676131	hsa-miR-4650-5p	CLIP-seq
MIRT2676132	hsa-miR-4673	CLIP-seq
MIRT2676133	hsa-miR-4674	CLIP-seq
MIRT2676134	hsa-miR-4677-5p	CLIP-seq
MIRT2676135	hsa-miR-4716-5p	CLIP-seq
MIRT2676136	hsa-miR-4726-3p	CLIP-seq
MIRT2676137	hsa-miR-92a	CLIP-seq
MIRT2676138	hsa-miR-92b	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	IEA
GO:0001817	Process	Regulation of cytokine production	IBA
GO:0001818	Process	Negative regulation of cytokine production	IEA
GO:0001818	Process	Negative regulation of cytokine production	ISS
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005886	Component	Plasma membrane	TAS
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0045591	Process	Positive regulation of regulatory T cell differentiation	IEA
GO:0046007	Process	Negative regulation of activated T cell proliferation	IEA
GO:0046007	Process	Negative regulation of activated T cell proliferation	ISS
GO:0050852	Process	T cell receptor signaling pathway	IBA
GO:0050860	Process	Negative regulation of T cell receptor signaling pathway	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0070371	Process	ERK1 and ERK2 cascade	IEA
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IEA
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IEA

MIM	HGNC	e!Ensembl
613591	1137	ENSG00000124508

Q8WVV5

Protein name

Butyrophilin subfamily 2 member A2

Protein function

Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion.

PDB

8IH4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07686	V-set	38 → 147	Immunoglobulin V-set domain	Domain
PF13765	PRY	329 → 377	SPRY-associated domain	Family
PF00622	SPRY	381 → 497	SPRY domain	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain, bone marrow, small intestine, muscle, spleen and pancreas. Moderate expression was seen in lung, liver and kidney. {ECO:0000269|PubMed:9149941}.

Sequence

MEPAAALHFSLPASLLLLLLLLLLSLCALVSAQFTVVGPANPILAMVGENTTLRCHLSPE
KNAEDMEVRWFRSQFSPAVFVYKGGRERTEEQMEEYRGRITFVSKDINRGSVALVIHNVT
AQENGIYRCYFQEGRSYDEAILRLVVAGLGSKPLIEIKAQEDGSIWLECISGGWYPEPLT
VWRDPYGEVVPALKEVSIADADGLFMVTTAVIIRDKYVRNVSCSVNNTLLGQEKETVIFI
PESFMPSASPWMVALAVILTASPWMVSMTVILAVFIIFMAVSICCIKKLQREKKILSGEK
KVEQEEKEIAQQLQEELRWRRTFLHAADVVLDPDTAHPELFLSEDRRSVRRGPYRQRVPD
NPERFDSQPCVLGWESFASGKHYWEVEVENVMVWTVGVCRHSVERKGEVLLIPQNGFWTL
EMFGNQYRALSSPERILPLKESLCRVGVFLDYEAGDVSFYNMRDRSHIYTCPRSAFTVPV
RPFFRLGSDDSPIFICPALTGASGVMVPEEGLKLHRVGTHQSL

Sequence length

523

Interactions

View interactions

	Reactome
			Butyrophilin (BTN) family interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BTN2A2-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTERSTITIAL CYSTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27898717	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	8465201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21971053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37851374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASDB_DG	19571809		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	28540026		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	8465201		★★★★★ ★☆☆☆☆ Found in Text Mining only

BTN2A2 (butyrophilin subfamily 2 member A2)