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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	11120
Gene name Gene Name - the full gene name approved by the HGNC.	Butyrophilin subfamily 2 member A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BTN2A1
Synonyms (NCBI Gene) Gene synonyms aliases	BK14H9.1, BT2.1, BTF1, BTN2.1, DJ3E1.1
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p22.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified

Show/Hide all(219)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017744	hsa-miR-335-5p	Microarray	18185580
MIRT027591	hsa-miR-98-5p	Microarray	19088304
MIRT827313	hsa-miR-1245b-5p	CLIP-seq
MIRT827314	hsa-miR-214	CLIP-seq
MIRT827315	hsa-miR-3142	CLIP-seq
MIRT827316	hsa-miR-3619-5p	CLIP-seq
MIRT827317	hsa-miR-3620	CLIP-seq
MIRT827318	hsa-miR-3691-3p	CLIP-seq
MIRT827319	hsa-miR-4464	CLIP-seq
MIRT827320	hsa-miR-4641	CLIP-seq
MIRT827321	hsa-miR-4748	CLIP-seq
MIRT827322	hsa-miR-657	CLIP-seq
MIRT827323	hsa-miR-761	CLIP-seq
MIRT827314	hsa-miR-214	CLIP-seq
MIRT827324	hsa-miR-28-5p	CLIP-seq
MIRT827325	hsa-miR-3124-3p	CLIP-seq
MIRT827326	hsa-miR-3139	CLIP-seq
MIRT827327	hsa-miR-3157-5p	CLIP-seq
MIRT827316	hsa-miR-3619-5p	CLIP-seq
MIRT827328	hsa-miR-4277	CLIP-seq
MIRT827329	hsa-miR-4291	CLIP-seq
MIRT827330	hsa-miR-4433	CLIP-seq
MIRT827331	hsa-miR-4459	CLIP-seq
MIRT827332	hsa-miR-4768-3p	CLIP-seq
MIRT827333	hsa-miR-708	CLIP-seq
MIRT827323	hsa-miR-761	CLIP-seq
MIRT827334	hsa-miR-890	CLIP-seq
MIRT827335	hsa-miR-922	CLIP-seq
MIRT827324	hsa-miR-28-5p	CLIP-seq
MIRT827326	hsa-miR-3139	CLIP-seq
MIRT827327	hsa-miR-3157-5p	CLIP-seq
MIRT827330	hsa-miR-4433	CLIP-seq
MIRT827331	hsa-miR-4459	CLIP-seq
MIRT827332	hsa-miR-4768-3p	CLIP-seq
MIRT827333	hsa-miR-708	CLIP-seq
MIRT827324	hsa-miR-28-5p	CLIP-seq
MIRT827326	hsa-miR-3139	CLIP-seq
MIRT827327	hsa-miR-3157-5p	CLIP-seq
MIRT827330	hsa-miR-4433	CLIP-seq
MIRT827331	hsa-miR-4459	CLIP-seq
MIRT827332	hsa-miR-4768-3p	CLIP-seq
MIRT827333	hsa-miR-708	CLIP-seq
MIRT1944839	hsa-miR-513a-3p	CLIP-seq
MIRT2183250	hsa-let-7a	CLIP-seq
MIRT2183251	hsa-let-7b	CLIP-seq
MIRT2183252	hsa-let-7c	CLIP-seq
MIRT2183253	hsa-let-7d	CLIP-seq
MIRT2183254	hsa-let-7e	CLIP-seq
MIRT2183255	hsa-let-7f	CLIP-seq
MIRT2183256	hsa-let-7g	CLIP-seq
MIRT2183257	hsa-let-7i	CLIP-seq
MIRT2183258	hsa-miR-1266	CLIP-seq
MIRT2183259	hsa-miR-200b	CLIP-seq
MIRT2183260	hsa-miR-200c	CLIP-seq
MIRT2183261	hsa-miR-202	CLIP-seq
MIRT2183262	hsa-miR-3927	CLIP-seq
MIRT2183263	hsa-miR-429	CLIP-seq
MIRT2183264	hsa-miR-4458	CLIP-seq
MIRT2183265	hsa-miR-4500	CLIP-seq
MIRT2183266	hsa-miR-4518	CLIP-seq
MIRT2183267	hsa-miR-98	CLIP-seq
MIRT2486754	hsa-miR-1207-3p	CLIP-seq
MIRT2486755	hsa-miR-1268	CLIP-seq
MIRT2486756	hsa-miR-1268b	CLIP-seq
MIRT2486757	hsa-miR-1273f	CLIP-seq
MIRT2486758	hsa-miR-133a	CLIP-seq
MIRT2486759	hsa-miR-133b	CLIP-seq
MIRT2486760	hsa-miR-143	CLIP-seq
MIRT2486761	hsa-miR-147	CLIP-seq
MIRT2486762	hsa-miR-1470	CLIP-seq
MIRT2486763	hsa-miR-147b	CLIP-seq
MIRT2486764	hsa-miR-150	CLIP-seq
MIRT2486765	hsa-miR-1827	CLIP-seq
MIRT2486766	hsa-miR-187	CLIP-seq
MIRT2486767	hsa-miR-1915	CLIP-seq
MIRT2486768	hsa-miR-210	CLIP-seq
MIRT2486769	hsa-miR-2117	CLIP-seq
MIRT2486770	hsa-miR-3126-3p	CLIP-seq
MIRT2486771	hsa-miR-3127-3p	CLIP-seq
MIRT2486772	hsa-miR-3158-3p	CLIP-seq
MIRT2486773	hsa-miR-3192	CLIP-seq
MIRT2486774	hsa-miR-3199	CLIP-seq
MIRT2486775	hsa-miR-326	CLIP-seq
MIRT2486776	hsa-miR-330-5p	CLIP-seq
MIRT2486777	hsa-miR-342-3p	CLIP-seq
MIRT2486778	hsa-miR-3618	CLIP-seq
MIRT2486779	hsa-miR-3652	CLIP-seq
MIRT2486780	hsa-miR-3675-3p	CLIP-seq
MIRT2486781	hsa-miR-3921	CLIP-seq
MIRT2486782	hsa-miR-4267	CLIP-seq
MIRT2486783	hsa-miR-4273	CLIP-seq
MIRT2486784	hsa-miR-4279	CLIP-seq
MIRT2486785	hsa-miR-4281	CLIP-seq
MIRT2486786	hsa-miR-4300	CLIP-seq
MIRT2486787	hsa-miR-4430	CLIP-seq
MIRT2486788	hsa-miR-4436b-5p	CLIP-seq
MIRT2486789	hsa-miR-4455	CLIP-seq
MIRT2486790	hsa-miR-448	CLIP-seq
MIRT2486791	hsa-miR-4505	CLIP-seq
MIRT2486792	hsa-miR-4648	CLIP-seq
MIRT2486793	hsa-miR-4653-5p	CLIP-seq
MIRT2486794	hsa-miR-4659a-3p	CLIP-seq
MIRT2486795	hsa-miR-4659b-3p	CLIP-seq
MIRT2486796	hsa-miR-4662a-5p	CLIP-seq
MIRT2486797	hsa-miR-4663	CLIP-seq
MIRT2486798	hsa-miR-4667-3p	CLIP-seq
MIRT2486799	hsa-miR-4677-3p	CLIP-seq
MIRT2486800	hsa-miR-4685-5p	CLIP-seq
MIRT2486801	hsa-miR-4687-3p	CLIP-seq
MIRT2486802	hsa-miR-4708-5p	CLIP-seq
MIRT2486803	hsa-miR-4711-3p	CLIP-seq
MIRT2486804	hsa-miR-4713-5p	CLIP-seq
MIRT2486805	hsa-miR-4726-3p	CLIP-seq
MIRT2486806	hsa-miR-4733-3p	CLIP-seq
MIRT2486807	hsa-miR-4746-3p	CLIP-seq
MIRT2486808	hsa-miR-4753-3p	CLIP-seq
MIRT2486809	hsa-miR-4770	CLIP-seq
MIRT2486810	hsa-miR-4778-3p	CLIP-seq
MIRT2486811	hsa-miR-4779	CLIP-seq
MIRT2486812	hsa-miR-4786-5p	CLIP-seq
MIRT2486813	hsa-miR-4802-3p	CLIP-seq
MIRT2486814	hsa-miR-532-3p	CLIP-seq
MIRT2486815	hsa-miR-541	CLIP-seq
MIRT2486816	hsa-miR-581	CLIP-seq
MIRT2486817	hsa-miR-583	CLIP-seq
MIRT2486818	hsa-miR-584	CLIP-seq
MIRT2486819	hsa-miR-604	CLIP-seq
MIRT2486820	hsa-miR-609	CLIP-seq
MIRT2486821	hsa-miR-642a	CLIP-seq
MIRT2486822	hsa-miR-647	CLIP-seq
MIRT2486823	hsa-miR-654-5p	CLIP-seq
MIRT2486824	hsa-miR-7	CLIP-seq
MIRT2486825	hsa-miR-765	CLIP-seq
MIRT2486826	hsa-miR-769-5p	CLIP-seq
MIRT2486827	hsa-miR-920	CLIP-seq
MIRT2486828	hsa-miR-934	CLIP-seq
MIRT2486754	hsa-miR-1207-3p	CLIP-seq
MIRT2486755	hsa-miR-1268	CLIP-seq
MIRT2486756	hsa-miR-1268b	CLIP-seq
MIRT2486757	hsa-miR-1273f	CLIP-seq
MIRT2486758	hsa-miR-133a	CLIP-seq
MIRT2486759	hsa-miR-133b	CLIP-seq
MIRT2486760	hsa-miR-143	CLIP-seq
MIRT2486761	hsa-miR-147	CLIP-seq
MIRT2486762	hsa-miR-1470	CLIP-seq
MIRT2486763	hsa-miR-147b	CLIP-seq
MIRT2486764	hsa-miR-150	CLIP-seq
MIRT2486765	hsa-miR-1827	CLIP-seq
MIRT2486766	hsa-miR-187	CLIP-seq
MIRT2676109	hsa-miR-1914	CLIP-seq
MIRT2486767	hsa-miR-1915	CLIP-seq
MIRT2486768	hsa-miR-210	CLIP-seq
MIRT2486769	hsa-miR-2117	CLIP-seq
MIRT2486770	hsa-miR-3126-3p	CLIP-seq
MIRT2486771	hsa-miR-3127-3p	CLIP-seq
MIRT2486772	hsa-miR-3158-3p	CLIP-seq
MIRT2676110	hsa-miR-3183	CLIP-seq
MIRT2486773	hsa-miR-3192	CLIP-seq
MIRT2486774	hsa-miR-3199	CLIP-seq
MIRT2676111	hsa-miR-323-5p	CLIP-seq
MIRT2486775	hsa-miR-326	CLIP-seq
MIRT2486776	hsa-miR-330-5p	CLIP-seq
MIRT2486777	hsa-miR-342-3p	CLIP-seq
MIRT2486778	hsa-miR-3618	CLIP-seq
MIRT2486779	hsa-miR-3652	CLIP-seq
MIRT2486780	hsa-miR-3675-3p	CLIP-seq
MIRT2486781	hsa-miR-3921	CLIP-seq
MIRT2486782	hsa-miR-4267	CLIP-seq
MIRT2486783	hsa-miR-4273	CLIP-seq
MIRT2486784	hsa-miR-4279	CLIP-seq
MIRT2486785	hsa-miR-4281	CLIP-seq
MIRT2676112	hsa-miR-4299	CLIP-seq
MIRT2486786	hsa-miR-4300	CLIP-seq
MIRT2486787	hsa-miR-4430	CLIP-seq
MIRT2486788	hsa-miR-4436b-5p	CLIP-seq
MIRT2486789	hsa-miR-4455	CLIP-seq
MIRT2676113	hsa-miR-4456	CLIP-seq
MIRT2486790	hsa-miR-448	CLIP-seq
MIRT2486791	hsa-miR-4505	CLIP-seq
MIRT2486792	hsa-miR-4648	CLIP-seq
MIRT2486793	hsa-miR-4653-5p	CLIP-seq
MIRT2486794	hsa-miR-4659a-3p	CLIP-seq
MIRT2486795	hsa-miR-4659b-3p	CLIP-seq
MIRT2486796	hsa-miR-4662a-5p	CLIP-seq
MIRT2486797	hsa-miR-4663	CLIP-seq
MIRT2486798	hsa-miR-4667-3p	CLIP-seq
MIRT2486799	hsa-miR-4677-3p	CLIP-seq
MIRT2486800	hsa-miR-4685-5p	CLIP-seq
MIRT2486801	hsa-miR-4687-3p	CLIP-seq
MIRT2486802	hsa-miR-4708-5p	CLIP-seq
MIRT2486803	hsa-miR-4711-3p	CLIP-seq
MIRT2486804	hsa-miR-4713-5p	CLIP-seq
MIRT2676114	hsa-miR-4723-3p	CLIP-seq
MIRT2486805	hsa-miR-4726-3p	CLIP-seq
MIRT2486806	hsa-miR-4733-3p	CLIP-seq
MIRT2486807	hsa-miR-4746-3p	CLIP-seq
MIRT2486808	hsa-miR-4753-3p	CLIP-seq
MIRT2486809	hsa-miR-4770	CLIP-seq
MIRT2486810	hsa-miR-4778-3p	CLIP-seq
MIRT2486811	hsa-miR-4779	CLIP-seq
MIRT2486812	hsa-miR-4786-5p	CLIP-seq
MIRT2486813	hsa-miR-4802-3p	CLIP-seq
MIRT2486814	hsa-miR-532-3p	CLIP-seq
MIRT2486815	hsa-miR-541	CLIP-seq
MIRT2676115	hsa-miR-548q	CLIP-seq
MIRT2486816	hsa-miR-581	CLIP-seq
MIRT2486817	hsa-miR-583	CLIP-seq
MIRT2486818	hsa-miR-584	CLIP-seq
MIRT2486819	hsa-miR-604	CLIP-seq
MIRT2486820	hsa-miR-609	CLIP-seq
MIRT2486821	hsa-miR-642a	CLIP-seq
MIRT2486822	hsa-miR-647	CLIP-seq
MIRT2486823	hsa-miR-654-5p	CLIP-seq
MIRT2486824	hsa-miR-7	CLIP-seq
MIRT2486825	hsa-miR-765	CLIP-seq
MIRT2486826	hsa-miR-769-5p	CLIP-seq
MIRT2676116	hsa-miR-876-3p	CLIP-seq
MIRT2486827	hsa-miR-920	CLIP-seq
MIRT2486828	hsa-miR-934	CLIP-seq

Show/Hide all(8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001817	Process	Regulation of cytokine production	IBA	21873635
GO:0003674	Function	Molecular_function	ND
GO:0005102	Function	Signaling receptor binding	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	9382921
GO:0006629	Process	Lipid metabolic process	TAS	9382921
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0050852	Process	T cell receptor signaling pathway	IBA	21873635

MIM	HGNC	e!Ensembl
613590	1136	ENSG00000112763

Protein

UniProt ID

Q7KYR7

Protein name

Butyrophilin subfamily 2 member A1

PDB

8DFW , 8DFX , 8DFY , 8JYC , 8JYE , 8VC7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07686	V-set	34 → 143	Immunoglobulin V-set domain	Domain
PF13765	PRY	330 → 381	SPRY-associated domain	Family
PF00622	SPRY	385 → 500	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

MESAAALHFSRPASLLLLLLSLCALVSAQFIVVGPTDPILATVGENTTLRCHLSPEKNAE
DMEVRWFRSQFSPAVFVYKGGRERTEEQMEEYRGRTTFVSKDISRGSVALVIHNITAQEN
GTYRCYFQEGRSYDEAILHLVVAGLGSKPLISMRGHEDGGIRLECISRGWYPKPLTVWRD
PYGGVAPALKEVSMPDADGLFMVTTAVIIRDKSVRNMSCSINNTLLGQKKESVIFIPESF
MPSVSPCAVALPIIVVILMIPIAVCIYWINKLQKEKKILSGEKEFERETREIALKELEKE
RVQKEEELQVKEKLQEELRWRRTFLHAVDVVLDPDTAHPDLFLSEDRRSVRRCPFRHLGE
SVPDNPERFDSQPCVLGRESFASGKHYWEVEVENVIEWTVGVCRDSVERKGEVLLIPQNG
FWTLEMHKGQYRAVSSPDRILPLKESLCRVGVFLDYEAGDVSFYNMRDRSHIYTCPRSAF
SVPVRPFFRLGCEDSPIFICPALTGANGVTVPEEGLTLHRVGTHQSL

Sequence length

527

Interactions

View interactions

	Reactome
			Butyrophilin (BTN) family interactions

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451 View all (71 more)	29059683
Lung carcinoma	Carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355 View all (44 more)	28604730
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	28540026

Show/Hide Unknown Diseases (9)

Disease term	Disease name	Evidence	References	Source
Unknown
Mental depression	Major Depressive Disorder		29942085	ClinVar
Myocardial infarction	Myocardial Infarction		21211798	ClinVar
Gastroesophageal Reflux Disease	Gastroesophageal Reflux Disease			GWAS
Cutaneous mastocytosis	Cutaneous mastocytosis			GWAS
Neuroticism	Neuroticism			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Bipolar Disorder	Bipolar Disorder			GWAS
Psoriasis	Psoriasis			GWAS
Dental caries	Dental caries			GWAS

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining
Breast Neoplasms	Associate	39351539
Colorectal Neoplasms	Associate	36543375
Glioma	Associate	37770968, 40076788
Hyperlipoproteinemia Type II	Associate	25813695
Hypertension	Associate	25813534
Hypertriglyceridemia	Associate	25813695
Lymphoma	Associate	36096643
Nasopharyngeal Carcinoma	Associate	39769218
Neoplasms	Associate	37648854, 38090581, 39769218, 40076788
Renal Insufficiency Chronic	Associate	25813695

BTN2A1 (butyrophilin subfamily 2 member A1)