Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54718
Gene name Gene Name - the full gene name approved by the HGNC.
Butyrophilin subfamily 2 member A3, pseudogene
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BTN2A3P
Synonyms (NCBI Gene) Gene synonyms aliases
BTN2.3, BTN2A3
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.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017897 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001817 Process Regulation of cytokine production IBA 21873635
GO:0005102 Function Signaling receptor binding IBA 21873635
GO:0009897 Component External side of plasma membrane IBA 21873635
GO:0016021 Component Integral component of membrane IEA
GO:0050852 Process T cell receptor signaling pathway IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613592 13229 ENSG00000291104
Protein
UniProt ID Q96KV6
Protein name Putative butyrophilin subfamily 2 member A3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 33 141 Immunoglobulin V-set domain Domain
PF13765 PRY 301 349 SPRY-associated domain Family
PF00622 SPRY 353 469 SPRY domain Family
Sequence
MEPAAALHFSRPASLLLLLSLCALVSAQVTVVGPTDPILAMVGENTTLRCCLSPEENAED
MEVRWFQSQFSPAVFVYKGGRERTEEQKEEYRGRTTFVSKDSRGSVALIIHNVTAEDNGI
YQCYFQEGRSCNEAILHLVVA
GLDSEPVIEMRDHEDGGIQLECISGGWYPKPLTVWRDPY
GEVVPALKEVSTPDADSLFMVTTAVIIRDKSVRNVSCSINDTLLGQKKESVIFIPESFMP
SRSPCVVILPVIMIILMIPIAICIYWINNLQKEKKDSHLMTFNLCLSLAGWRRTFLHAAN
VVLDQDTGHPYLFVSEDKRSVTLDPSRESIPGNPERFDSQLCVLGQESFASGKHYLEVDV
ENVIEWTVGICRDNVERKWEVPLLPQNGFWTLEMHKRKYWALTSLKWILSLEEPLCQVGI
FLDYEAGDVSFYNMRDRSHIYTFPHSAFSVPVRPFFSLGSYDSQILICS
AFTGASGVTVP
EEGWTLHRAGTHHSPQNQFPSLTAMETSPGHLSSHCTMPLVEDTPSSPLVTQENIFQLPL
SHPLQTSAPVHLLIRCGFSSSFGCNYGMESRHRELVVPQLPARKKV
Sequence length 586
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
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