SNRPB2 (small nuclear ribonucleoprotein polypeptide B2) - Rat Genome Database

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Gene: SNRPB2 (small nuclear ribonucleoprotein polypeptide B2) Homo sapiens
Analyze
Symbol: SNRPB2
Name: small nuclear ribonucleoprotein polypeptide B2
RGD ID: 1320950
HGNC Page HGNC:11155
Description: Predicted to enable U1 snRNA binding activity. Involved in mRNA splicing, via spliceosome. Located in cytoplasmic ribonucleoprotein granule; fibrillar center; and nuclear speck. Part of U2 snRNP; U2-type catalytic step 2 spliceosome; and U2-type precatalytic spliceosome. Implicated in connective tissue disease. Biomarker of disease of cellular proliferation.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC24807; MGC45309; Msl1; small nuclear ribonucleoprotein polypeptide B; U2 small nuclear ribonucleoprotein B''; U2 snRNP B''; U2B''
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC022690.1   LOC100130001   LOC729200   SNRPB2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382016,730,026 - 16,742,564 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2016,729,961 - 16,742,564 (+)Ensemblhg38GRCh38
GRCh372016,710,671 - 16,723,209 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362016,658,629 - 16,670,037 (+)NCBIBuild 36Build 36hg18NCBI36
Build 342016,658,628 - 16,670,037NCBI
Celera2016,785,672 - 16,797,480 (+)NCBICelera
Cytogenetic Map20p12.1NCBI
HuRef2016,673,454 - 16,685,262 (+)NCBIHuRef
CHM1_12016,710,624 - 16,722,432 (+)NCBICHM1_1
T2T-CHM13v2.02016,781,147 - 16,793,686 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Proteomic analysis of in vivo-assembled pre-mRNA splicing complexes expands the catalog of participating factors. Chen YI, etal., Nucleic Acids Res. 2007;35(12):3928-44. Epub 2007 May 30.
2. The U2 small nuclear ribonucleoprotein particle as an autoantigen. Analysis with sera from patients with overlap syndromes. Craft J, etal., J Clin Invest. 1988 Jun;81(6):1716-24.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Molecular signature of MT1-MMP: transactivation of the downstream universal gene network in cancer. Rozanov DV, etal., Cancer Res. 2008 Jun 1;68(11):4086-96. doi: 10.1158/0008-5472.CAN-07-6458.
Additional References at PubMed
PMID:2139037   PMID:2951739   PMID:7593271   PMID:9016565   PMID:9323129   PMID:9576861   PMID:9716128   PMID:9731529   PMID:10556282   PMID:11149922   PMID:11780052   PMID:11780068  
PMID:11991638   PMID:12084575   PMID:12226669   PMID:12234937   PMID:12477932   PMID:15489334   PMID:15592455   PMID:15840729   PMID:16159877   PMID:16341674   PMID:16344560   PMID:17332742  
PMID:17353931   PMID:18457437   PMID:20360068   PMID:20467437   PMID:21081503   PMID:21145461   PMID:21642987   PMID:21873635   PMID:22020285   PMID:22365833   PMID:22678362   PMID:22863883  
PMID:22939629   PMID:24163370   PMID:24457600   PMID:24711643   PMID:24778252   PMID:24866816   PMID:24965446   PMID:24981860   PMID:25416956   PMID:26186194   PMID:26344197   PMID:26354767  
PMID:26414014   PMID:26496610   PMID:26673895   PMID:26687479   PMID:26725010   PMID:27107012   PMID:27173435   PMID:27591049   PMID:27684187   PMID:28076346   PMID:28302793   PMID:28330616  
PMID:28514442   PMID:28515276   PMID:28524877   PMID:28561026   PMID:28781166   PMID:29229926   PMID:29298432   PMID:29331416   PMID:29395067   PMID:29478914   PMID:29507755   PMID:29509190  
PMID:29802200   PMID:29845934   PMID:29884807   PMID:30021884   PMID:30110629   PMID:30209976   PMID:30463901   PMID:30804502   PMID:30884312   PMID:30948266   PMID:31048545   PMID:31091453  
PMID:31180492   PMID:31515488   PMID:31586073   PMID:31623628   PMID:31685992   PMID:31744343   PMID:31822558   PMID:31839598   PMID:31950832   PMID:31980649   PMID:32041737   PMID:32129710  
PMID:32176739   PMID:32203420   PMID:32296183   PMID:32494006   PMID:32640226   PMID:32687490   PMID:32707033   PMID:32780723   PMID:32807901   PMID:33637726   PMID:33729478   PMID:33961781  
PMID:34091597   PMID:34189442   PMID:34597346   PMID:34709727   PMID:34728620   PMID:34732716   PMID:34819669   PMID:35013218   PMID:35235311   PMID:35253629   PMID:35271311   PMID:35831314  
PMID:35944360   PMID:36042349   PMID:36215168   PMID:36244648   PMID:36490346   PMID:36574265   PMID:36604567   PMID:36779763   PMID:36797247   PMID:37071682   PMID:37105989   PMID:37223481  
PMID:37314180   PMID:37314216   PMID:37317656   PMID:37689310   PMID:37758653   PMID:37827155   PMID:38113892   PMID:38172120   PMID:38697112   PMID:39358380   PMID:39522233   PMID:40437099  


Genomics

Comparative Map Data
SNRPB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382016,730,026 - 16,742,564 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2016,729,961 - 16,742,564 (+)Ensemblhg38GRCh38
GRCh372016,710,671 - 16,723,209 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362016,658,629 - 16,670,037 (+)NCBIBuild 36Build 36hg18NCBI36
Build 342016,658,628 - 16,670,037NCBI
Celera2016,785,672 - 16,797,480 (+)NCBICelera
Cytogenetic Map20p12.1NCBI
HuRef2016,673,454 - 16,685,262 (+)NCBIHuRef
CHM1_12016,710,624 - 16,722,432 (+)NCBICHM1_1
T2T-CHM13v2.02016,781,147 - 16,793,686 (+)NCBIT2T-CHM13v2.0
Snrpb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392142,904,989 - 142,913,972 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2142,904,959 - 142,914,773 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm382143,063,069 - 143,072,052 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2143,063,039 - 143,072,853 (+)Ensemblmm10GRCm38
MGSCv372142,888,805 - 142,897,788 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv362142,754,510 - 142,763,493 (+)NCBIMGSCv36mm8
Celera2144,238,085 - 144,247,080 (+)NCBICelera
Cytogenetic Map2G1NCBI
cM Map270.89NCBI
Snrpb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83150,852,814 - 150,862,364 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl3150,852,790 - 150,863,428 (+)EnsemblGRCr8
mRatBN7.23130,399,239 - 130,408,821 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3130,399,248 - 130,408,812 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx3134,305,346 - 134,314,827 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03142,889,384 - 142,898,865 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03140,592,551 - 140,602,032 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.03137,138,082 - 137,147,575 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3137,137,980 - 137,147,575 (+)Ensemblrn6Rnor6.0
Rnor_5.03143,580,454 - 143,589,947 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.43131,416,677 - 131,426,007 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera3129,321,277 - 129,330,597 (+)NCBICelera
RGSC_v3.13131,322,233 - 131,331,711 (+)NCBI
Cytogenetic Map3q41NCBI
Snrpb2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541525,879,983 - 25,890,707 (+)Ensembl
ChiLan1.0NW_00495541525,880,013 - 25,889,295 (+)NCBIChiLan1.0ChiLan1.0
SNRPB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22117,620,443 - 17,631,855 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12017,617,281 - 17,628,679 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02016,690,562 - 16,701,964 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12016,670,823 - 16,682,418 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2016,670,826 - 16,682,418 (+)EnsemblpanPan2panpan1.1
SNRPB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1246,106,217 - 6,117,369 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl246,106,217 - 6,117,369 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha245,972,930 - 5,984,084 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0246,512,414 - 6,523,916 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl246,512,769 - 6,523,916 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1246,121,887 - 6,133,032 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0246,218,271 - 6,229,422 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0246,494,619 - 6,505,772 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Snrpb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640154,864,984 - 154,874,634 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364853,296,353 - 3,305,984 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049364853,296,350 - 3,305,985 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SNRPB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1725,363,167 - 25,373,281 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11725,363,107 - 25,373,289 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2697,022,361 - 97,023,045 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SNRPB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1245,654,264 - 45,666,073 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl245,654,285 - 45,667,736 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_0236660546,037,211 - 6,049,622 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Snrpb2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474117,892,964 - 17,902,321 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462474117,892,908 - 17,902,321 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in SNRPB2
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p12.1-11.23(chr20:13160260-17910332)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052740]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052740]|See cases [RCV000052740] Chr20:13160260..17910332 [GRCh38]
Chr20:13140907..17890976 [GRCh37]
Chr20:13088907..17838976 [NCBI36]
Chr20:20p12.1-11.23		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22		 pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12		 pathogenic
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20p12.1(chr20:16721087-17300554)x3 copy number gain See cases [RCV000137156] Chr20:16721087..17300554 [GRCh38]
Chr20:16701732..17281199 [GRCh37]
Chr20:16649732..17229199 [NCBI36]
Chr20:20p12.1		 uncertain significance
GRCh38/hg38 20p12.1(chr20:16704727-17303136)x3 copy number gain See cases [RCV000138047] Chr20:16704727..17303136 [GRCh38]
Chr20:16685372..17283781 [GRCh37]
Chr20:16633372..17231781 [NCBI36]
Chr20:20p12.1		 uncertain significance
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p12.1(chr20:15355046-16852195)x3 copy number gain See cases [RCV000446978] Chr20:15355046..16852195 [GRCh37]
Chr20:20p12.1		 uncertain significance
GRCh37/hg19 20p12.3-12.1(chr20:9121901-16858469)x1 copy number loss See cases [RCV000448674] Chr20:9121901..16858469 [GRCh37]
Chr20:20p12.3-12.1		 pathogenic
GRCh37/hg19 20p12.1(chr20:16672584-17288277)x3 copy number gain See cases [RCV000448689] Chr20:16672584..17288277 [GRCh37]
Chr20:20p12.1		 likely benign
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1 copy number loss not provided [RCV000684134] Chr20:3092739..17091453 [GRCh37]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p12.1(chr20:16578621-17326948)x3 copy number gain not provided [RCV000741144] Chr20:16578621..17326948 [GRCh37]
Chr20:20p12.1		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1 copy number loss not provided [RCV001007080] Chr20:8571696..22088650 [GRCh37]
Chr20:20p12.3-11.22		 pathogenic
GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055) copy number gain not provided [RCV000767743] Chr20:11716825..19331055 [GRCh37]
Chr20:20p12.2-11.23		 pathogenic
GRCh37/hg19 20p12.1(chr20:15872280-16764799)x1 copy number loss not provided [RCV001007085] Chr20:15872280..16764799 [GRCh37]
Chr20:20p12.1		 uncertain significance
GRCh37/hg19 20p12.1(chr20:16688627-17288943)x3 copy number gain not provided [RCV000848647] Chr20:16688627..17288943 [GRCh37]
Chr20:20p12.1		 uncertain significance
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3 copy number gain not provided [RCV001795841] Chr20:11702911..19179706 [GRCh37]
Chr20:20p12.2-11.23		 uncertain significance
NM_003092.5(SNRPB2):c.452A>G (p.Tyr151Cys) single nucleotide variant not specified [RCV004330104] Chr20:16740347 [GRCh38]
Chr20:16720992 [GRCh37]
Chr20:20p12.1		 uncertain significance
NM_003092.5(SNRPB2):c.227G>A (p.Gly76Asp) single nucleotide variant not specified [RCV004072186] Chr20:16732326 [GRCh38]
Chr20:16712971 [GRCh37]
Chr20:20p12.1		 uncertain significance
NM_003092.5(SNRPB2):c.179G>A (p.Gly60Asp) single nucleotide variant not specified [RCV004180875] Chr20:16732278 [GRCh38]
Chr20:16712923 [GRCh37]
Chr20:20p12.1		 uncertain significance
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3 copy number gain Renal agenesis [RCV003327640] Chr20:87153..23635465 [GRCh38]
Chr20:20p13-11.21		 pathogenic
NM_003092.5(SNRPB2):c.361A>G (p.Asn121Asp) single nucleotide variant not specified [RCV004353503] Chr20:16737384 [GRCh38]
Chr20:16718029 [GRCh37]
Chr20:20p12.1		 uncertain significance
NC_000020.10:g.16400000_24400000del deletion Hyperinsulinemic hypoglycemia, familial, 1 [RCV003992661] Chr20:16400000..24400000 [GRCh37]
Chr20:20p12.1-11.21		 pathogenic
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 copy number gain not provided [RCV003885495] Chr20:68351..23860313 [GRCh37]
Chr20:20p13-11.21		 pathogenic
NM_003092.5(SNRPB2):c.519G>A (p.Gln173=) single nucleotide variant not specified [RCV004464416] Chr20:16740846 [GRCh38]
Chr20:16721491 [GRCh37]
Chr20:20p12.1		 likely benign
NM_003092.5(SNRPB2):c.146G>T (p.Arg49Met) single nucleotide variant not specified [RCV004464415] Chr20:16732245 [GRCh38]
Chr20:16712890 [GRCh37]
Chr20:20p12.1		 uncertain significance
NM_003092.5(SNRPB2):c.337G>A (p.Val113Met) single nucleotide variant not specified [RCV004865582] Chr20:16737360 [GRCh38]
Chr20:16718005 [GRCh37]
Chr20:20p12.1		 uncertain significance
NM_003092.5(SNRPB2):c.356C>T (p.Thr119Ile) single nucleotide variant not specified [RCV004865583] Chr20:16737379 [GRCh38]
Chr20:16718024 [GRCh37]
Chr20:20p12.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:684
Count of miRNA genes:292
Interacting mature miRNAs:302
Transcripts:ENST00000246071, ENST00000377943, ENST00000478522
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643385BW311_HBody weight QTL 311 (human)3.310.0001Body fat amount20734547523289549Human
1643383BW312_HBody weight QTL 312 (human)2.920.0004Body fat amountpercent fat20734547523289549Human

Markers in Region
D20S1100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372016,721,698 - 16,721,820UniSTSGRCh37
Build 362016,669,698 - 16,669,820RGDNCBI36
Celera2016,796,761 - 16,796,883RGD
Cytogenetic Map20p12.1UniSTS
HuRef2016,684,543 - 16,684,665UniSTS
RH69644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372016,721,580 - 16,721,722UniSTSGRCh37
Build 362016,669,580 - 16,669,722RGDNCBI36
Celera2016,796,643 - 16,796,785RGD
Cytogenetic Map20p12.1UniSTS
HuRef2016,684,425 - 16,684,567UniSTS
RH102994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372016,722,160 - 16,722,299UniSTSGRCh37
Build 362016,670,160 - 16,670,299RGDNCBI36
Celera2016,797,223 - 16,797,362RGD
Cytogenetic Map20p12.1UniSTS
HuRef2016,685,005 - 16,685,144UniSTS
GeneMap99-GB4 RH Map2090.9UniSTS
RH45368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372016,712,811 - 16,712,939UniSTSGRCh37
GRCh376149,433,615 - 149,433,742UniSTSGRCh37
Build 366149,475,308 - 149,475,435RGDNCBI36
Celera6150,168,673 - 150,168,800RGD
Celera2016,787,874 - 16,788,002UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20p12.1UniSTS
HuRef6147,001,621 - 147,001,748UniSTS
HuRef2016,675,656 - 16,675,784UniSTS
GeneMap99-GB4 RH Map2088.78UniSTS
NCBI RH Map20131.1UniSTS
SNRPB2_2657  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372016,721,455 - 16,722,108UniSTSGRCh37
Build 362016,669,455 - 16,670,108RGDNCBI36
Celera2016,796,518 - 16,797,171RGD
HuRef2016,684,300 - 16,684,953UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA953215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI741327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF243328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM772256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA088017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M15841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000246071   ⟹   ENSP00000246071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2016,730,026 - 16,742,564 (+)Ensembl
Ensembl Acc Id: ENST00000377943   ⟹   ENSP00000367178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2016,729,961 - 16,741,776 (+)Ensembl
Ensembl Acc Id: ENST00000478522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2016,730,029 - 16,732,468 (+)Ensembl
RefSeq Acc Id: NM_003092   ⟹   NP_003083
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382016,730,026 - 16,742,564 (+)NCBI
GRCh372016,710,609 - 16,722,417 (+)ENTREZGENE
Build 362016,658,629 - 16,670,037 (+)NCBI Archive
HuRef2016,673,454 - 16,685,262 (+)ENTREZGENE
CHM1_12016,710,624 - 16,722,432 (+)NCBI
T2T-CHM13v2.02016,781,147 - 16,793,686 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198220   ⟹   NP_937863
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382016,730,026 - 16,742,564 (+)NCBI
GRCh372016,710,609 - 16,722,417 (+)ENTREZGENE
Build 362016,658,629 - 16,670,037 (+)NCBI Archive
HuRef2016,673,454 - 16,685,262 (+)ENTREZGENE
CHM1_12016,710,624 - 16,722,432 (+)NCBI
T2T-CHM13v2.02016,781,147 - 16,793,686 (+)NCBI
Sequence:
RefSeq Acc Id: NP_003083   ⟸   NM_003092
- UniProtKB: D3DW21 (UniProtKB/Swiss-Prot),   B2R7J3 (UniProtKB/Swiss-Prot),   Q9UJD4 (UniProtKB/Swiss-Prot),   P08579 (UniProtKB/Swiss-Prot),   B5BTZ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_937863   ⟸   NM_198220
- UniProtKB: D3DW21 (UniProtKB/Swiss-Prot),   B2R7J3 (UniProtKB/Swiss-Prot),   Q9UJD4 (UniProtKB/Swiss-Prot),   P08579 (UniProtKB/Swiss-Prot),   B5BTZ8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000367178   ⟸   ENST00000377943
Ensembl Acc Id: ENSP00000246071   ⟸   ENST00000246071
Protein Domains
RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P08579-F1-model_v2 AlphaFold P08579 1-225 view protein structure

Promoters
RGD ID:6799089
Promoter ID:HG_KWN:38673
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000078110,   OTTHUMT00000078111,   OTTHUMT00000078112
Position:
Human AssemblyChrPosition (strand)Source
Build 362016,658,421 - 16,658,921 (+)MPROMDB
RGD ID:6853484
Promoter ID:EP74568
Type:initiation region
Name:HS_SNRPB2
Description:Small nuclear ribonucleoprotein polypeptide B''.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 362016,658,674 - 16,658,734EPD
RGD ID:13206413
Promoter ID:EPDNEW_H26787
Type:initiation region
Name:SNRPB2_1
Description:small nuclear ribonucleoprotein polypeptide B2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382016,730,029 - 16,730,089EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11155 AgrOrtholog
COSMIC SNRPB2 COSMIC
Ensembl Genes ENSG00000125870 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000246071 ENTREZGENE
  ENST00000246071.8 UniProtKB/Swiss-Prot
  ENST00000377943 ENTREZGENE
  ENST00000377943.9 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot
GTEx ENSG00000125870 GTEx
HGNC ID HGNC:11155 ENTREZGENE
Human Proteome Map SNRPB2 Human Proteome Map
InterPro Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot
  RBD_domain_sf UniProtKB/Swiss-Prot
  RRM_dom UniProtKB/Swiss-Prot
  U2B''_RRM1 UniProtKB/Swiss-Prot
  U2B''_RRM2 UniProtKB/Swiss-Prot
KEGG Report hsa:6629 UniProtKB/Swiss-Prot
NCBI Gene 6629 ENTREZGENE
OMIM 603520 OMIM
PANTHER U1 SMALL NUCLEAR RIBONUCLEOPROTEIN A/U2 SMALL NUCLEAR RIBONUCLEOPROTEIN B UniProtKB/Swiss-Prot
Pfam RRM_1 UniProtKB/Swiss-Prot
PharmGKB PA35996 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot
SMART RRM UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot
UniProt B2R7J3 ENTREZGENE
  B5BTZ8 ENTREZGENE, UniProtKB/TrEMBL
  D3DW21 ENTREZGENE
  P08579 ENTREZGENE
  Q9UJD4 ENTREZGENE
  RU2B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R7J3 UniProtKB/Swiss-Prot
  D3DW21 UniProtKB/Swiss-Prot
  Q9UJD4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 SNRPB2  small nuclear ribonucleoprotein polypeptide B2  SNRPB2  small nuclear ribonucleoprotein polypeptide B  Symbol and/or name change 5135510 APPROVED
2011-07-27 SNRPB2  small nuclear ribonucleoprotein polypeptide B  SNRPB2  small nuclear ribonucleoprotein polypeptide B''  Symbol and/or name change 5135510 APPROVED