SNTB1 (syntrophin beta 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: SNTB1 (syntrophin beta 1) Homo sapiens
Analyze
Symbol: SNTB1
Name: syntrophin beta 1
RGD ID: 1317088
HGNC Page HGNC
Description: Predicted to have several functions, including PDZ domain binding activity; actin binding activity; and calmodulin binding activity. Predicted to be involved in muscle contraction. Localizes to protein-containing complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 59 kDa dystrophin-associated protein A1 basic component 1; 59-DAP; A1B; beta-1-syntrophin; BSYN2; DAPA1B; dystrophin-associated protein A1, 59kD, basic component 1; FLJ22442; MGC111389; SNT2; SNT2B1; syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1); syntrophin-2; tax interaction protein 43; TIP-43
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8120,535,745 - 120,813,273 (-)EnsemblGRCh38hg38GRCh38
GRCh388120,535,756 - 120,812,046 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378121,547,996 - 121,824,286 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368121,619,226 - 121,893,910 (-)NCBINCBI36hg18NCBI36
Build 348121,619,225 - 121,893,910NCBI
Celera8117,736,336 - 118,012,396 (-)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8116,868,352 - 117,146,047 (-)NCBIHuRef
CHM1_18121,588,485 - 121,864,687 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway  (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
carvedilol pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
fosphenytoin pharmacokinetics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

References

Additional References at PubMed
PMID:7844150   PMID:8119949   PMID:8183929   PMID:8576247   PMID:9412493   PMID:9482110   PMID:10212242   PMID:10545507   PMID:11069112   PMID:11168526   PMID:11352924   PMID:12136098  
PMID:12477932   PMID:12665801   PMID:15024025   PMID:15489334   PMID:16192269   PMID:16192270   PMID:16192292   PMID:16533813   PMID:18468998   PMID:19343720   PMID:20208534   PMID:20889312  
PMID:21423176   PMID:21873635   PMID:22721673   PMID:23406873   PMID:23782696   PMID:23933737   PMID:24024966   PMID:24255178   PMID:24975899   PMID:26053890   PMID:26496610   PMID:27432908  
PMID:27880917   PMID:28514442   PMID:28595731   PMID:28675297   PMID:28848321   PMID:29467281   PMID:29507755   PMID:29568061   PMID:30581152   PMID:30639242   PMID:30726710   PMID:31091453  
PMID:31300455  


Genomics

Comparative Map Data
SNTB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8120,535,745 - 120,813,273 (-)EnsemblGRCh38hg38GRCh38
GRCh388120,535,756 - 120,812,046 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378121,547,996 - 121,824,286 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368121,619,226 - 121,893,910 (-)NCBINCBI36hg18NCBI36
Build 348121,619,225 - 121,893,910NCBI
Celera8117,736,336 - 118,012,396 (-)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8116,868,352 - 117,146,047 (-)NCBIHuRef
CHM1_18121,588,485 - 121,864,687 (-)NCBICHM1_1
Sntb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391555,499,791 - 55,770,944 (-)NCBIGRCm39mm39
GRCm39 Ensembl1555,499,784 - 55,770,345 (-)Ensembl
GRCm381555,636,388 - 55,907,302 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1555,636,388 - 55,906,949 (-)EnsemblGRCm38mm10GRCm38
MGSCv371555,470,709 - 55,738,504 (-)NCBIGRCm37mm9NCBIm37
MGSCv361555,469,237 - 55,737,032 (-)NCBImm8
Celera1557,171,449 - 57,431,827 (-)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1522.14NCBI
Sntb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2787,060,926 - 87,329,315 (-)NCBI
Rnor_6.0 Ensembl795,397,113 - 95,669,809 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0795,395,417 - 95,670,093 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0796,019,799 - 96,286,153 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4792,156,715 - 92,426,444 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1792,191,431 - 92,460,727 (-)NCBI
Celera783,854,036 - 84,122,727 (-)NCBICelera
Cytogenetic Map7q32NCBI
Sntb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541725,904,654 - 26,128,134 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541725,906,013 - 26,128,134 (-)NCBIChiLan1.0ChiLan1.0
SNTB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18119,993,019 - 120,269,695 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8119,996,149 - 120,268,188 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08117,225,128 - 117,501,899 (-)NCBIMhudiblu_PPA_v0panPan3
SNTB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11319,394,608 - 19,627,278 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1319,397,509 - 19,627,403 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1319,407,106 - 19,639,472 (-)NCBI
ROS_Cfam_1.01319,720,168 - 19,953,167 (-)NCBI
UMICH_Zoey_3.11319,450,834 - 19,689,839 (-)NCBI
UNSW_CanFamBas_1.01319,550,680 - 19,782,989 (-)NCBI
UU_Cfam_GSD_1.01319,783,841 - 20,016,508 (-)NCBI
Sntb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530318,647,963 - 18,875,715 (+)NCBI
SpeTri2.0NW_00493647026,074,175 - 26,301,076 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SNTB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl418,288,843 - 18,526,219 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1418,288,756 - 18,524,362 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2419,416,987 - 19,549,147 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SNTB1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18115,117,224 - 115,391,475 (-)NCBI
ChlSab1.1 Ensembl8115,117,756 - 115,391,537 (-)Ensembl
Sntb1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476318,310,253 - 18,528,845 (-)NCBI

Position Markers
D8S1112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,750,653 - 121,750,868UniSTSGRCh37
Build 368121,819,834 - 121,820,049RGDNCBI36
Celera8117,938,775 - 117,938,990RGD
Cytogenetic Map8q23-q24UniSTS
HuRef8117,072,400 - 117,072,620UniSTS
Marshfield Genetic Map8127.01RGD
Marshfield Genetic Map8127.01UniSTS
deCODE Assembly Map8121.11UniSTS
Whitehead-YAC Contig Map8 UniSTS
D8S1999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,626,509 - 121,626,659UniSTSGRCh37
Build 368121,695,690 - 121,695,840RGDNCBI36
Celera8117,814,803 - 117,814,953RGD
Cytogenetic Map8q23-q24UniSTS
HuRef8116,946,870 - 116,947,020UniSTS
Whitehead-RH Map8619.6UniSTS
RH92195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,825,424 - 121,825,565UniSTSGRCh37
Build 368121,894,605 - 121,894,746RGDNCBI36
Celera8118,013,511 - 118,013,652RGD
Cytogenetic Map8q23-q24UniSTS
HuRef8117,147,162 - 117,147,303UniSTS
GeneMap99-GB4 RH Map8468.15UniSTS
G59991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,751,242 - 121,751,340UniSTSGRCh37
Build 368121,820,423 - 121,820,521RGDNCBI36
Celera8117,939,364 - 117,939,462RGD
Cytogenetic Map8q23-q24UniSTS
HuRef8117,072,994 - 117,073,092UniSTS
RH119080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,632,509 - 121,632,823UniSTSGRCh37
Build 368121,701,690 - 121,702,004RGDNCBI36
Celera8117,820,967 - 117,821,281RGD
Cytogenetic Map8q23-q24UniSTS
HuRef8116,952,868 - 116,953,182UniSTS
SHGC-142320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,634,071 - 121,634,352UniSTSGRCh37
Build 368121,703,252 - 121,703,533RGDNCBI36
Celera8117,822,530 - 117,822,811RGD
Cytogenetic Map8q23-q24UniSTS
HuRef8116,954,429 - 116,954,710UniSTS
RH45192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,751,092 - 121,751,310UniSTSGRCh37
Build 368121,820,273 - 121,820,491RGDNCBI36
Celera8117,939,214 - 117,939,432RGD
Cytogenetic Map8q23-q24UniSTS
HuRef8117,072,844 - 117,073,062UniSTS
GeneMap99-GB4 RH Map8465.76UniSTS
STS-N30895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,548,126 - 121,548,317UniSTSGRCh37
Build 368121,617,307 - 121,617,498RGDNCBI36
Celera8117,736,477 - 117,736,668RGD
Cytogenetic Map8q23-q24UniSTS
HuRef8116,868,493 - 116,868,684UniSTS
GeneMap99-GB4 RH Map8465.97UniSTS
WI-17825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,550,199 - 121,550,340UniSTSGRCh37
Build 368121,619,380 - 121,619,521RGDNCBI36
Celera8117,738,551 - 117,738,692RGD
Cytogenetic Map8q23-q24UniSTS
HuRef8116,870,564 - 116,870,705UniSTS
GeneMap99-GB4 RH Map8466.88UniSTS
Whitehead-RH Map8617.7UniSTS
WIAF-2216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,751,194 - 121,751,342UniSTSGRCh37
Build 368121,820,375 - 121,820,523RGDNCBI36
Celera8117,939,316 - 117,939,464RGD
Cytogenetic Map8q23-q24UniSTS
HuRef8117,072,946 - 117,073,094UniSTS
GeneMap99-GB4 RH Map8465.76UniSTS
WI-17164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,582,518 - 121,582,667UniSTSGRCh37
Build 368121,651,699 - 121,651,848RGDNCBI36
Celera8117,770,809 - 117,770,958RGD
Cytogenetic Map8q23-q24UniSTS
HuRef8116,902,880 - 116,903,029UniSTS
GeneMap99-GB4 RH Map8465.76UniSTS
Whitehead-RH Map8617.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1867
Count of miRNA genes:986
Interacting mature miRNAs:1184
Transcripts:ENST00000395601, ENST00000517992, ENST00000519177, ENST00000519298, ENST00000520717
Prediction methods: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.


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 1154 805 1440 584 480 442 2598 841 536 212 237 1293 144 471 1665 1
Low 1272 2159 271 38 1414 21 1754 1334 3146 193 1184 264 22 733 1123 2 2
Below cutoff 4 26 14 2 47 2 1 21 37 10 21 42 5 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000395601   ⟹   ENSP00000378965
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,535,745 - 120,813,273 (-)Ensembl
RefSeq Acc Id: ENST00000517992   ⟹   ENSP00000431124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,535,756 - 120,812,046 (-)Ensembl
RefSeq Acc Id: ENST00000519177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,570,259 - 120,811,563 (-)Ensembl
RefSeq Acc Id: ENST00000519298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,632,610 - 120,693,908 (-)Ensembl
RefSeq Acc Id: ENST00000520717   ⟹   ENSP00000429292
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,811,759 - 120,812,852 (-)Ensembl
RefSeq Acc Id: ENST00000648490   ⟹   ENSP00000497707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8120,535,847 - 120,812,069 (-)Ensembl
RefSeq Acc Id: NM_021021   ⟹   NP_066301
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,535,756 - 120,812,046 (-)NCBI
GRCh378121,547,985 - 121,825,599 (-)NCBI
Build 368121,619,226 - 121,893,910 (-)NCBI Archive
HuRef8116,868,352 - 117,146,047 (-)ENTREZGENE
CHM1_18121,588,485 - 121,864,687 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517239   ⟹   XP_011515541
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388120,571,162 - 120,812,041 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_066301   ⟸   NM_021021
- UniProtKB: Q13884 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515541   ⟸   XM_011517239
- Peptide Label: isoform X1
- UniProtKB: Q13884 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000497707   ⟸   ENST00000648490
RefSeq Acc Id: ENSP00000431124   ⟸   ENST00000517992
RefSeq Acc Id: ENSP00000429292   ⟸   ENST00000520717
RefSeq Acc Id: ENSP00000378965   ⟸   ENST00000395601
Protein Domains
PDZ   PH   SU

Promoters
RGD ID:7214087
Promoter ID:EPDNEW_H12790
Type:initiation region
Name:SNTB1_1
Description:syntrophin beta 1
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
GRCh388120,812,046 - 120,812,106EPDNEW
RGD ID:6807040
Promoter ID:HG_KWN:61998
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Lymphoblastoid,   NB4
Transcripts:ENST00000395601,   UC003YPE.2,   UC010MDG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368121,892,716 - 121,893,672 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1 copy number loss See cases [RCV000054304] Chr8:118059192..121574437 [GRCh38]
Chr8:119071431..122586677 [GRCh37]
Chr8:119140612..122655858 [NCBI36]
Chr8:8q24.11-24.13
pathogenic
NM_021021.3(SNTB1):c.734C>T (p.Pro245Leu) single nucleotide variant Malignant melanoma [RCV000068135] Chr8:120693746 [GRCh38]
Chr8:121705986 [GRCh37]
Chr8:121775167 [NCBI36]
Chr8:8q24.12
not provided
NM_021021.3(SNTB1):c.1272G>A (p.Trp424Ter) single nucleotide variant Malignant melanoma [RCV000061741] Chr8:120548823 [GRCh38]
Chr8:121561063 [GRCh37]
Chr8:121630244 [NCBI36]
Chr8:8q24.12
not provided
NM_021021.3(SNTB1):c.615C>T (p.Ser205=) single nucleotide variant Malignant melanoma [RCV000061742] Chr8:120693865 [GRCh38]
Chr8:121706105 [GRCh37]
Chr8:121775286 [NCBI36]
Chr8:8q24.12
not provided
NM_021021.3(SNTB1):c.789-11175A>T single nucleotide variant Lung cancer [RCV000106987] Chr8:120643826 [GRCh38]
Chr8:121656066 [GRCh37]
Chr8:8q24.12
uncertain significance
NM_021021.3(SNTB1):c.788+30008C>A single nucleotide variant Lung cancer [RCV000106988] Chr8:120663684 [GRCh38]
Chr8:121675924 [GRCh37]
Chr8:8q24.12
uncertain significance
NM_021021.3(SNTB1):c.788+29103A>T single nucleotide variant Lung cancer [RCV000106989] Chr8:120664589 [GRCh38]
Chr8:121676829 [GRCh37]
Chr8:8q24.12
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.12(chr8:120662277-120917444)x1 copy number loss See cases [RCV000135377] Chr8:120662277..120917444 [GRCh38]
Chr8:121674517..121929684 [GRCh37]
Chr8:121743698..121998865 [NCBI36]
Chr8:8q24.12
uncertain significance
GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1 copy number loss See cases [RCV000135291] Chr8:113418060..120975305 [GRCh38]
Chr8:114430289..121987545 [GRCh37]
Chr8:114499465..122056726 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_021021.4(SNTB1):c.571+12964G>A single nucleotide variant Lip and oral cavity carcinoma [RCV000494730] Chr8:120798309 [GRCh38]
Chr8:121810549 [GRCh37]
Chr8:8q24.12
association
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12(chr8:121475108-121571266)x3 copy number gain not provided [RCV000747802] Chr8:121475108..121571266 [GRCh37]
Chr8:8q24.12
benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11168 AgrOrtholog
COSMIC SNTB1 COSMIC
Ensembl Genes ENSG00000172164 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000378965 UniProtKB/Swiss-Prot
  ENSP00000429292 UniProtKB/TrEMBL
  ENSP00000431124 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000497707 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000395601 UniProtKB/Swiss-Prot
  ENST00000517992 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520717 UniProtKB/TrEMBL
  ENST00000648490 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000172164 GTEx
HGNC ID HGNC:11168 ENTREZGENE
Human Proteome Map SNTB1 Human Proteome Map
InterPro PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHsplit_syntrophin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Syntrophin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6641 UniProtKB/Swiss-Prot
NCBI Gene 6641 ENTREZGENE
OMIM 600026 OMIM
PANTHER PTHR10554 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot
  PH_17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36008 PharmGKB
PROSITE PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3ITC2_HUMAN UniProtKB/TrEMBL
  E5RIX7_HUMAN UniProtKB/TrEMBL
  Q13884 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K9E0 UniProtKB/Swiss-Prot
  O14912 UniProtKB/Swiss-Prot
  Q4KMG8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 SNTB1  syntrophin beta 1  SNTB1  syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)  Symbol and/or name change 5135510 APPROVED