BTN3A3 (butyrophilin subfamily 3 member A3) - Rat Genome Database

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Gene: BTN3A3 (butyrophilin subfamily 3 member A3) Homo sapiens
Analyze
Symbol: BTN3A3
Name: butyrophilin subfamily 3 member A3
RGD ID: 1349753
HGNC Page HGNC:1140
Description: Predicted to enable signaling receptor binding activity. Involved in T cell mediated immunity. Located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: BTF3; BTN3.3; butyrophilin 3; butyrophilin subfamily 3 member A3 secreted isoform; butyrophilin, subfamily 3, member A3
RGD Orthologs
Bonobo
Dog
Squirrel
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38626,440,504 - 26,453,415 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl626,440,472 - 26,453,415 (+)EnsemblGRCh38hg38GRCh38
GRCh37626,440,732 - 26,453,643 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36626,548,742 - 26,561,622 (+)NCBINCBI36Build 36hg18NCBI36
Build 34626,548,741 - 26,561,621NCBI
Celera627,669,980 - 27,682,923 (+)NCBICelera
Cytogenetic Map6p22.2NCBI
HuRef626,383,366 - 26,396,309 (+)NCBIHuRef
CHM1_1626,442,775 - 26,455,718 (+)NCBICHM1_1
T2T-CHM13v2.0626,308,867 - 26,321,780 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
external side of plasma membrane  (IBA,IEA)
membrane  (HDA,IEA)
plasma membrane  (IDA,IEA,TAS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:9149941   PMID:10354554   PMID:11170752   PMID:12477932   PMID:14574404   PMID:15340161   PMID:15489334   PMID:16344560   PMID:19946888   PMID:20208008   PMID:21873635  
PMID:21988832   PMID:22767497   PMID:25243493   PMID:26186194   PMID:28514442   PMID:28692057   PMID:30858559   PMID:31056421   PMID:32788342   PMID:33961781   PMID:34079125   PMID:36804966  
PMID:37380775  


Genomics

Comparative Map Data
BTN3A3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38626,440,504 - 26,453,415 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl626,440,472 - 26,453,415 (+)EnsemblGRCh38hg38GRCh38
GRCh37626,440,732 - 26,453,643 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36626,548,742 - 26,561,622 (+)NCBINCBI36Build 36hg18NCBI36
Build 34626,548,741 - 26,561,621NCBI
Celera627,669,980 - 27,682,923 (+)NCBICelera
Cytogenetic Map6p22.2NCBI
HuRef626,383,366 - 26,396,309 (+)NCBIHuRef
CHM1_1626,442,775 - 26,455,718 (+)NCBICHM1_1
T2T-CHM13v2.0626,308,867 - 26,321,780 (+)NCBIT2T-CHM13v2.0
LOC100976925
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2541,085,399 - 41,103,085 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1637,086,929 - 37,104,589 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0626,272,923 - 26,285,821 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1626,931,194 - 26,944,103 (+)NCBIpanpan1.1PanPan1.1panPan2
LOC482199
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.114467,644 - 474,710 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha14678,465 - 686,642 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.014188,141 - 196,315 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.114381,039 - 389,217 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.014130,423 - 138,598 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.014151,039 - 159,216 (-)NCBIUU_Cfam_GSD_1.0
Btn3a3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049461,475,292 - 1,488,572 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049366712,133,363 - 2,146,259 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100513291
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1724,778,319 - 24,790,468 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2728,989,819 - 28,999,695 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in BTN3A3
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|See cases [RCV000052180] Chr6:18120520..30767516 [GRCh38]
Chr6:18120751..30735293 [GRCh37]
Chr6:18228730..30843272 [NCBI36]
Chr6:6p22.3-21.33		 pathogenic
NM_006994.4(BTN3A3):c.807C>T (p.Phe269=) single nucleotide variant Malignant melanoma [RCV000067236] Chr6:26448339 [GRCh38]
Chr6:26448567 [GRCh37]
Chr6:26556546 [NCBI36]
Chr6:6p22.2		 not provided
GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3 copy number gain See cases [RCV000133692] Chr6:26280579..28727313 [GRCh38]
Chr6:26280807..28695090 [GRCh37]
Chr6:26388786..28803069 [NCBI36]
Chr6:6p22.2-22.1		 uncertain significance
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p22.2(chr6:25839165-26536884)x4 copy number gain See cases [RCV000447433] Chr6:25839165..26536884 [GRCh37]
Chr6:6p22.2		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_006994.5(BTN3A3):c.1676A>C (p.His559Pro) single nucleotide variant not specified [RCV004303100] Chr6:26452332 [GRCh38]
Chr6:26452560 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.331C>T (p.Leu111Phe) single nucleotide variant not specified [RCV004292910] Chr6:26444202 [GRCh38]
Chr6:26444430 [GRCh37]
Chr6:6p22.2		 uncertain significance
GRCh37/hg19 6p22.2(chr6:26178542-26670193)x3 copy number gain not provided [RCV000682657] Chr6:26178542..26670193 [GRCh37]
Chr6:6p22.2		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p22.2(chr6:26369549-26442786)x1 copy number loss not provided [RCV000745556] Chr6:26369549..26442786 [GRCh37]
Chr6:6p22.2		 benign
GRCh37/hg19 6p22.2(chr6:26428062-26462877)x3 copy number gain not provided [RCV000745557] Chr6:26428062..26462877 [GRCh37]
Chr6:6p22.2		 benign
GRCh37/hg19 6p22.2(chr6:26433329-26459244)x3 copy number gain not provided [RCV000745558] Chr6:26433329..26459244 [GRCh37]
Chr6:6p22.2		 benign
GRCh37/hg19 6p22.2(chr6:26433329-26460721)x3 copy number gain not provided [RCV000745559] Chr6:26433329..26460721 [GRCh37]
Chr6:6p22.2		 benign
GRCh37/hg19 6p22.2(chr6:26440542-26459961)x3 copy number gain not provided [RCV000745560] Chr6:26440542..26459961 [GRCh37]
Chr6:6p22.2		 benign
GRCh37/hg19 6p22.2(chr6:26366119-26444945)x1 copy number loss not provided [RCV000849656] Chr6:26366119..26444945 [GRCh37]
Chr6:6p22.2		 uncertain significance
GRCh37/hg19 6p22.2(chr6:26366119-26444946)x1 copy number loss not provided [RCV000849243] Chr6:26366119..26444946 [GRCh37]
Chr6:6p22.2		 uncertain significance
GRCh37/hg19 6p22.2(chr6:26256525-26536884)x3 copy number gain not provided [RCV001005789] Chr6:26256525..26536884 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1532T>C (p.Ile511Thr) single nucleotide variant not specified [RCV004298506] Chr6:26452188 [GRCh38]
Chr6:26452416 [GRCh37]
Chr6:6p22.2		 uncertain significance
GRCh37/hg19 6p22.2(chr6:26345595-26601092)x3 copy number gain not provided [RCV001258731] Chr6:26345595..26601092 [GRCh37]
Chr6:6p22.2		 uncertain significance
GRCh37/hg19 6p22.2(chr6:26046566-26670193)x3 copy number gain not provided [RCV001258882] Chr6:26046566..26670193 [GRCh37]
Chr6:6p22.2		 uncertain significance
GRCh37/hg19 6p22.2(chr6:25839165-26536884) copy number gain not specified [RCV002053562] Chr6:25839165..26536884 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.14G>A (p.Ser5Asn) single nucleotide variant not specified [RCV004281709] Chr6:26443588 [GRCh38]
Chr6:26443816 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.749C>T (p.Ala250Val) single nucleotide variant not specified [RCV004313758] Chr6:26448281 [GRCh38]
Chr6:26448509 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.239C>T (p.Ala80Val) single nucleotide variant not specified [RCV004256475] Chr6:26444110 [GRCh38]
Chr6:26444338 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1352A>G (p.Asn451Ser) single nucleotide variant not specified [RCV004097538] Chr6:26452008 [GRCh38]
Chr6:26452236 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1105C>T (p.Arg369Trp) single nucleotide variant not specified [RCV004242645] Chr6:26451761 [GRCh38]
Chr6:26451989 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1117G>C (p.Asp373His) single nucleotide variant not specified [RCV004070075] Chr6:26451773 [GRCh38]
Chr6:26452001 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1369C>T (p.Pro457Ser) single nucleotide variant not specified [RCV004130892] Chr6:26452025 [GRCh38]
Chr6:26452253 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1384G>A (p.Gly462Arg) single nucleotide variant not specified [RCV004161831] Chr6:26452040 [GRCh38]
Chr6:26452268 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1466C>A (p.Ala489Asp) single nucleotide variant not specified [RCV004166584] Chr6:26452122 [GRCh38]
Chr6:26452350 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.718C>G (p.Pro240Ala) single nucleotide variant not specified [RCV004228801] Chr6:26448250 [GRCh38]
Chr6:26448478 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.301C>T (p.Arg101Trp) single nucleotide variant not specified [RCV004072979] Chr6:26444172 [GRCh38]
Chr6:26444400 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.528A>C (p.Gln176His) single nucleotide variant not specified [RCV004150269] Chr6:26445798 [GRCh38]
Chr6:26446026 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.353C>T (p.Ala118Val) single nucleotide variant not specified [RCV004146363] Chr6:26444224 [GRCh38]
Chr6:26444452 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.577C>A (p.Pro193Thr) single nucleotide variant not specified [RCV004095539] Chr6:26445847 [GRCh38]
Chr6:26446075 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1465G>T (p.Ala489Ser) single nucleotide variant not specified [RCV004173250] Chr6:26452121 [GRCh38]
Chr6:26452349 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1209C>A (p.Asp403Glu) single nucleotide variant not specified [RCV004208430] Chr6:26451865 [GRCh38]
Chr6:26452093 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1078A>G (p.Arg360Gly) single nucleotide variant not specified [RCV004069584] Chr6:26451734 [GRCh38]
Chr6:26451962 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1519A>G (p.Thr507Ala) single nucleotide variant not specified [RCV004232618] Chr6:26452175 [GRCh38]
Chr6:26452403 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.203T>G (p.Val68Gly) single nucleotide variant not specified [RCV004147965] Chr6:26444074 [GRCh38]
Chr6:26444302 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.325G>C (p.Ala109Pro) single nucleotide variant not specified [RCV004210550] Chr6:26444196 [GRCh38]
Chr6:26444424 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.709A>G (p.Ile237Val) single nucleotide variant not specified [RCV004182472] Chr6:26445979 [GRCh38]
Chr6:26446207 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1712A>G (p.Asn571Ser) single nucleotide variant not specified [RCV004165256] Chr6:26452368 [GRCh38]
Chr6:26452596 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1279C>A (p.Pro427Thr) single nucleotide variant not specified [RCV004249640] Chr6:26451935 [GRCh38]
Chr6:26452163 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.674C>T (p.Ser225Phe) single nucleotide variant not specified [RCV004349460] Chr6:26445944 [GRCh38]
Chr6:26446172 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1487A>G (p.Tyr496Cys) single nucleotide variant not specified [RCV004352963] Chr6:26452143 [GRCh38]
Chr6:26452371 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1449C>T (p.Ile483=) single nucleotide variant not specified [RCV004357756] Chr6:26452105 [GRCh38]
Chr6:26452333 [GRCh37]
Chr6:6p22.2		 likely benign
NM_006994.5(BTN3A3):c.541G>A (p.Asp181Asn) single nucleotide variant not specified [RCV004354827] Chr6:26445811 [GRCh38]
Chr6:26446039 [GRCh37]
Chr6:6p22.2		 likely benign
NM_006994.5(BTN3A3):c.1327C>T (p.Arg443Trp) single nucleotide variant not provided [RCV003431694] Chr6:26451983 [GRCh38]
Chr6:26452211 [GRCh37]
Chr6:6p22.2		 likely benign
NM_006994.5(BTN3A3):c.204G>A (p.Val68=) single nucleotide variant not provided [RCV003428769] Chr6:26444075 [GRCh38]
Chr6:26444303 [GRCh37]
Chr6:6p22.2		 likely benign
NM_006994.5(BTN3A3):c.44A>G (p.His15Arg) single nucleotide variant not specified [RCV004426863] Chr6:26443618 [GRCh38]
Chr6:26443846 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.523C>T (p.Pro175Ser) single nucleotide variant not specified [RCV004426864] Chr6:26445793 [GRCh38]
Chr6:26446021 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.679C>A (p.Leu227Ile) single nucleotide variant not specified [RCV004426865] Chr6:26445949 [GRCh38]
Chr6:26446177 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1142G>A (p.Arg381His) single nucleotide variant not specified [RCV004426858] Chr6:26451798 [GRCh38]
Chr6:26452026 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1219T>C (p.Trp407Arg) single nucleotide variant not specified [RCV004426859] Chr6:26451875 [GRCh38]
Chr6:26452103 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1403A>C (p.Glu468Ala) single nucleotide variant not specified [RCV004426860] Chr6:26452059 [GRCh38]
Chr6:26452287 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.1645G>A (p.Ala549Thr) single nucleotide variant not specified [RCV004426861] Chr6:26452301 [GRCh38]
Chr6:26452529 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.167C>T (p.Pro56Leu) single nucleotide variant not specified [RCV004426862] Chr6:26444038 [GRCh38]
Chr6:26444266 [GRCh37]
Chr6:6p22.2		 uncertain significance
NM_006994.5(BTN3A3):c.970G>A (p.Glu324Lys) single nucleotide variant not specified [RCV004429346] Chr6:26449667 [GRCh38]
Chr6:26449895 [GRCh37]
Chr6:6p22.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3537
Count of miRNA genes:1051
Interacting mature miRNAs:1294
Transcripts:ENST00000244519, ENST00000339789, ENST00000361232, ENST00000467524, ENST00000471353, ENST00000474790, ENST00000477388, ENST00000480110, ENST00000482451, ENST00000483179, ENST00000487272, ENST00000487627, ENST00000490254, ENST00000494393, ENST00000496719, ENST00000497681
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
JA05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,440,935 - 26,441,102UniSTSGRCh37
Build 36626,548,914 - 26,549,081RGDNCBI36
Celera627,670,215 - 27,670,382RGD
Cytogenetic Map6p21.3UniSTS
HuRef626,383,601 - 26,383,768UniSTS
BTN3A3_9097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,452,950 - 26,453,736UniSTSGRCh37
Build 36626,560,929 - 26,561,715RGDNCBI36
Celera627,682,230 - 27,683,016RGD
HuRef626,395,616 - 26,396,402UniSTS
BTN3A2_9221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,451,502 - 26,451,712UniSTSGRCh37
GRCh37626,376,067 - 26,376,610UniSTSGRCh37
Build 36626,484,046 - 26,484,589RGDNCBI36
Celera627,605,354 - 27,605,898RGD
Celera627,680,782 - 27,680,992UniSTS
HuRef626,394,168 - 26,394,378UniSTS
HuRef626,318,886 - 26,319,429UniSTS
D6S2361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,443,634 - 26,443,742UniSTSGRCh37
GRCh37626,368,242 - 26,368,350UniSTSGRCh37
Build 36626,476,221 - 26,476,329RGDNCBI36
Celera627,672,914 - 27,673,022UniSTS
Celera627,597,530 - 27,597,638RGD
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map6p22.1UniSTS
HuRef626,386,300 - 26,386,408UniSTS
HuRef626,311,068 - 26,311,176UniSTS
D6S2231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,440,965 - 26,441,148UniSTSGRCh37
GRCh37626,440,965 - 26,441,141UniSTSGRCh37
Build 36626,548,944 - 26,549,120RGDNCBI36
Celera627,670,245 - 27,670,421RGD
Celera627,670,245 - 27,670,428UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef626,383,631 - 26,383,807UniSTS
HuRef626,383,631 - 26,383,814UniSTS
WI-14381  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map6p22.1UniSTS
GeneMap99-GB4 RH Map6106.35UniSTS
Whitehead-RH Map6131.3UniSTS
NCBI RH Map6373.6UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1346 1324 1280 178 1527 116 2078 523 1230 198 912 1325 68 1011 1084 1 1
Low 1087 1667 445 445 420 348 2269 1670 2499 221 542 268 107 1 193 1700 3 1
Below cutoff 6 1 1 4 1 9 4 5 5 19 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001242803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_197974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX341863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA445999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC410234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM244652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U90548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000244519   ⟹   ENSP00000244519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl626,440,504 - 26,453,415 (+)Ensembl
RefSeq Acc Id: ENST00000361232   ⟹   ENSP00000355238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl626,440,488 - 26,452,815 (+)Ensembl
RefSeq Acc Id: ENST00000467524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl626,440,510 - 26,443,804 (+)Ensembl
RefSeq Acc Id: ENST00000471353   ⟹   ENSP00000417717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl626,440,476 - 26,445,818 (+)Ensembl
RefSeq Acc Id: ENST00000474790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl626,440,493 - 26,443,939 (+)Ensembl
RefSeq Acc Id: ENST00000477388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl626,449,237 - 26,450,214 (+)Ensembl
RefSeq Acc Id: ENST00000480110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl626,440,508 - 26,453,414 (+)Ensembl
RefSeq Acc Id: ENST00000482451   ⟹   ENSP00000419312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl626,440,472 - 26,445,707 (+)Ensembl
RefSeq Acc Id: ENST00000483179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl626,445,538 - 26,452,161 (+)Ensembl
RefSeq Acc Id: ENST00000487272   ⟹   ENSP00000419445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl626,440,558 - 26,448,409 (+)Ensembl
RefSeq Acc Id: ENST00000487627   ⟹   ENSP00000420339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl626,440,497 - 26,444,298 (+)Ensembl
RefSeq Acc Id: ENST00000490254   ⟹   ENSP00000419736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl626,440,556 - 26,451,917 (+)Ensembl
RefSeq Acc Id: ENST00000494393   ⟹   ENSP00000417234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl626,440,472 - 26,444,284 (+)Ensembl
RefSeq Acc Id: ENST00000496719   ⟹   ENSP00000420147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl626,440,497 - 26,445,983 (+)Ensembl
RefSeq Acc Id: ENST00000497681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl626,449,415 - 26,451,915 (+)Ensembl
RefSeq Acc Id: NM_001242803   ⟹   NP_001229732
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38626,440,504 - 26,453,415 (+)NCBI
GRCh37626,440,700 - 26,453,643 (+)NCBI
HuRef626,383,366 - 26,396,309 (+)RGD
CHM1_1626,442,775 - 26,455,718 (+)NCBI
T2T-CHM13v2.0626,308,867 - 26,321,780 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006994   ⟹   NP_008925
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38626,440,504 - 26,453,415 (+)NCBI
GRCh37626,440,700 - 26,453,643 (+)RGD
GRCh37626,440,700 - 26,453,643 (+)NCBI
Build 36626,548,742 - 26,561,622 (+)NCBI Archive
Celera627,669,980 - 27,682,923 (+)RGD
HuRef626,383,366 - 26,396,309 (+)RGD
CHM1_1626,442,775 - 26,455,718 (+)NCBI
T2T-CHM13v2.0626,308,867 - 26,321,780 (+)NCBI
Sequence:
RefSeq Acc Id: NM_197974   ⟹   NP_932078
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38626,440,504 - 26,453,415 (+)NCBI
GRCh37626,440,700 - 26,453,643 (+)RGD
GRCh37626,440,700 - 26,453,643 (+)NCBI
Build 36626,548,742 - 26,561,622 (+)NCBI Archive
Celera627,669,980 - 27,682,923 (+)RGD
HuRef626,383,366 - 26,396,309 (+)RGD
CHM1_1626,442,775 - 26,455,718 (+)NCBI
T2T-CHM13v2.0626,308,867 - 26,321,780 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_008925   ⟸   NM_006994
- Peptide Label: isoform a precursor
- UniProtKB: B4DWI7 (UniProtKB/Swiss-Prot),   E9PCP5 (UniProtKB/Swiss-Prot),   O00478 (UniProtKB/Swiss-Prot),   A8K6Q7 (UniProtKB/TrEMBL),   Q53FI5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_932078   ⟸   NM_197974
- Peptide Label: isoform b
- UniProtKB: A8K6Q7 (UniProtKB/TrEMBL),   Q53FI5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229732   ⟸   NM_001242803
- Peptide Label: isoform c
- UniProtKB: A0A089GIA6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000419736   ⟸   ENST00000490254
RefSeq Acc Id: ENSP00000355238   ⟸   ENST00000361232
RefSeq Acc Id: ENSP00000417234   ⟸   ENST00000494393
RefSeq Acc Id: ENSP00000244519   ⟸   ENST00000244519
RefSeq Acc Id: ENSP00000419312   ⟸   ENST00000482451
RefSeq Acc Id: ENSP00000420147   ⟸   ENST00000496719
RefSeq Acc Id: ENSP00000417717   ⟸   ENST00000471353
RefSeq Acc Id: ENSP00000419445   ⟸   ENST00000487272
RefSeq Acc Id: ENSP00000420339   ⟸   ENST00000487627
Protein Domains
B30.2/SPRY   Ig-like   Ig-like V-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00478-F1-model_v2 AlphaFold O00478 1-584 view protein structure

Promoters
RGD ID:6872268
Promoter ID:EPDNEW_H9299
Type:initiation region
Name:BTN3A3_1
Description:butyrophilin subfamily 3 member A3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9298  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38626,440,504 - 26,440,564EPDNEW
RGD ID:6803821
Promoter ID:HG_KWN:52598
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_197974,   UC003NHZ.1,   UC003NIA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36626,548,721 - 26,549,221 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1140 AgrOrtholog
COSMIC BTN3A3 COSMIC
Ensembl Genes ENSG00000111801 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000244519 ENTREZGENE
  ENST00000244519.7 UniProtKB/Swiss-Prot
  ENST00000361232 ENTREZGENE
  ENST00000361232.7 UniProtKB/Swiss-Prot
  ENST00000471353.5 UniProtKB/TrEMBL
  ENST00000482451.5 UniProtKB/TrEMBL
  ENST00000487272.1 UniProtKB/TrEMBL
  ENST00000487627.5 UniProtKB/TrEMBL
  ENST00000490254.5 UniProtKB/TrEMBL
  ENST00000494393.5 UniProtKB/TrEMBL
  ENST00000496719.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.920 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000111801 GTEx
HGNC ID HGNC:1140 ENTREZGENE
Human Proteome Map BTN3A3 Human Proteome Map
InterPro B30.2/SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  B30.2/SPRY_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Butyrophylin_SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY_PRY_BTN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10384 UniProtKB/Swiss-Prot
NCBI Gene 10384 ENTREZGENE
OMIM 613595 OMIM
PANTHER BUTYROPHILIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BUTYROPHILIN SUBFAMILY 3 MEMBER A1 UniProtKB/TrEMBL
  BUTYROPHILIN SUBFAMILY 3 MEMBER A3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25461 PharmGKB
PRINTS BUTYPHLNCDUF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE B302_SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A089GIA6 ENTREZGENE, UniProtKB/TrEMBL
  A8K6Q7 ENTREZGENE, UniProtKB/TrEMBL
  B4DWI7 ENTREZGENE
  BT3A3_HUMAN UniProtKB/Swiss-Prot
  C9J3Q8_HUMAN UniProtKB/TrEMBL
  C9J877_HUMAN UniProtKB/TrEMBL
  C9JNZ3_HUMAN UniProtKB/TrEMBL
  C9JQT8_HUMAN UniProtKB/TrEMBL
  C9JUV8_HUMAN UniProtKB/TrEMBL
  C9JVU4_HUMAN UniProtKB/TrEMBL
  C9JZT5_HUMAN UniProtKB/TrEMBL
  E9PCP5 ENTREZGENE
  O00478 ENTREZGENE
  Q53FI5 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B4DWI7 UniProtKB/Swiss-Prot
  E9PCP5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 BTN3A3  butyrophilin subfamily 3 member A3    butyrophilin, subfamily 3, member A3  Symbol and/or name change 5135510 APPROVED