SERPINB5 (serpin family B member 5) - Rat Genome Database
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Gene: SERPINB5 (serpin family B member 5) Homo sapiens
Analyze
Symbol: SERPINB5
Name: serpin family B member 5
RGD ID: 69089
HGNC Page HGNC
Description: Predicted to have serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Localizes to cytoplasm. Biomarker of hepatocellular carcinoma; PARTICIPATES IN p53 signaling pathway; INTERACTS WITH (-)-epigallocatechin 3-gallate; 1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane; 17beta-estradiol.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: maspin; peptidase inhibitor 5; PI-5; PI5; protease inhibitor 5 (maspin); serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5; serine (or cysteine) proteinase inhibitor, clade b, member 5; serpin B5; serpin peptidase inhibitor, clade B (ovalbumin), member 5
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 Ensembl1863,476,958 - 63,505,085 (+)EnsemblGRCh38hg38GRCh38
GRCh381863,476,958 - 63,505,085 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371861,144,191 - 61,172,318 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371861,144,144 - 61,172,318 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361859,295,199 - 59,323,297 (+)NCBINCBI36hg18NCBI36
Build 341859,295,198 - 59,323,297NCBI
Celera1857,864,608 - 57,892,790 (+)NCBI
Cytogenetic Map18q21.33NCBI
HuRef1857,843,583 - 57,871,802 (+)NCBIHuRef
CHM1_11861,140,108 - 61,168,279 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-acetamidofluorene  (ISO)
2-deoxy-D-glucose  (EXP)
4-hydroxynon-2-enal  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
acetylsalicylic acid  (EXP)
acrylamide  (ISO)
adefovir pivoxil  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
biphenyl-2-ol  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
chloropicrin  (EXP)
chrysene  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
curcumin  (EXP)
DDT  (EXP)
deoxycholic acid  (EXP)
diarsenic trioxide  (EXP)
dichlorine  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (EXP)
doxazosin  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
furosemide  (ISO)
genistein  (ISO)
hydrogen peroxide  (EXP)
irinotecan  (EXP)
menadione  (EXP)
methotrexate  (EXP)
methylseleninic acid  (EXP)
microcystin RR  (EXP)
monosodium L-glutamate  (ISO)
N-nitrosodiethylamine  (ISO)
ozone  (ISO)
paracetamol  (ISO)
pentane-2,3-dione  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenethyl caffeate  (ISO)
PhIP  (ISO)
procyanidin B2  (EXP)
progesterone  (EXP)
quinoline  (EXP)
resveratrol  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
succimer  (ISO)
sulindac sulfide  (EXP)
tamoxifen  (ISO)
tanespimycin  (EXP)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IDA,ISO)
extracellular space  (IBA,IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7724531   PMID:7797587   PMID:8290962   PMID:9389773   PMID:9433491   PMID:10828881   PMID:11751384   PMID:11788595   PMID:11969337   PMID:12037665   PMID:12127964   PMID:12220518  
PMID:12231537   PMID:12366809   PMID:12384513   PMID:12425757   PMID:12477932   PMID:12533266   PMID:12629351   PMID:12644823   PMID:12753703   PMID:12786889   PMID:12789271   PMID:12799381  
PMID:12964023   PMID:12969792   PMID:14532972   PMID:14534696   PMID:14578190   PMID:14670180   PMID:14716296   PMID:14732229   PMID:14743202   PMID:14761935   PMID:14991928   PMID:15009909  
PMID:15145521   PMID:15197584   PMID:15256060   PMID:15309707   PMID:15353310   PMID:15492782   PMID:15501821   PMID:15578720   PMID:15608662   PMID:15620951   PMID:15688005   PMID:15713631  
PMID:15731774   PMID:15760906   PMID:15907209   PMID:16007219   PMID:16009940   PMID:16049006   PMID:16049007   PMID:16203989   PMID:16227634   PMID:16304843   PMID:16329135   PMID:16491398  
PMID:16540429   PMID:16604823   PMID:16614520   PMID:16618739   PMID:16633061   PMID:16720730   PMID:16892558   PMID:16936308   PMID:16982778   PMID:17189399   PMID:17203179   PMID:17203770  
PMID:17301947   PMID:17446556   PMID:17458898   PMID:17490717   PMID:18029348   PMID:18042077   PMID:18060631   PMID:18091325   PMID:18091326   PMID:18234645   PMID:18236066   PMID:18247378  
PMID:18343598   PMID:18367129   PMID:18597952   PMID:18665036   PMID:18698492   PMID:18931702   PMID:19073519   PMID:19090015   PMID:19147537   PMID:19148518   PMID:19221500   PMID:19222699  
PMID:19309490   PMID:19462894   PMID:19473451   PMID:19490893   PMID:19728335   PMID:19906413   PMID:19909580   PMID:19966016   PMID:20075396   PMID:20092039   PMID:20099971   PMID:20105109  
PMID:20132554   PMID:20211623   PMID:20334895   PMID:20336301   PMID:20337574   PMID:20346150   PMID:20349288   PMID:20360068   PMID:20363977   PMID:20459532   PMID:20517662   PMID:20697987  
PMID:20939879   PMID:21048031   PMID:21069375   PMID:21109985   PMID:21187389   PMID:21330826   PMID:21439064   PMID:21502940   PMID:21606500   PMID:21617230   PMID:21622623   PMID:21725612  
PMID:21732742   PMID:21800051   PMID:21833477   PMID:21855619   PMID:21856005   PMID:21873635   PMID:21903246   PMID:21943228   PMID:22011669   PMID:22076034   PMID:22292406   PMID:22684556  
PMID:22780967   PMID:22825520   PMID:22857708   PMID:22962304   PMID:22963136   PMID:23079206   PMID:23115015   PMID:23271290   PMID:23376485   PMID:23410722   PMID:23717449   PMID:23730906  
PMID:23818344   PMID:23922175   PMID:23923074   PMID:23924927   PMID:24002600   PMID:24025145   PMID:24030740   PMID:24114705   PMID:24172014   PMID:24223769   PMID:24228118   PMID:24242003  
PMID:24324551   PMID:24346847   PMID:24550385   PMID:24581141   PMID:24607789   PMID:24772914   PMID:24801268   PMID:25040445   PMID:25098993   PMID:25151033   PMID:25322663   PMID:25358722  
PMID:25459315   PMID:25553975   PMID:25640309   PMID:25775950   PMID:25936422   PMID:25973067   PMID:25973084   PMID:25977386   PMID:26051724   PMID:26067133   PMID:26080829   PMID:26095742  
PMID:26124368   PMID:26186194   PMID:26208903   PMID:26263377   PMID:26329803   PMID:26344197   PMID:26362203   PMID:26456962   PMID:26490978   PMID:26497917   PMID:26526579   PMID:26614844  
PMID:26646275   PMID:26733306   PMID:26757744   PMID:27177016   PMID:27221742   PMID:27297724   PMID:27409165   PMID:27525723   PMID:27704157   PMID:27888098   PMID:28009978   PMID:28011488  
PMID:28031066   PMID:28064070   PMID:28339463   PMID:28405681   PMID:28514442   PMID:28648644   PMID:28780084   PMID:28870936   PMID:29126758   PMID:29363056   PMID:29511373   PMID:29715131  
PMID:30035819   PMID:30561431   PMID:30737971   PMID:30740890   PMID:31002675   PMID:31180492   PMID:31228474   PMID:31343991   PMID:31594818   PMID:31986422   PMID:32005234   PMID:32079044  
PMID:32391971   PMID:32416067   PMID:33300360  


Genomics

Comparative Map Data
SERPINB5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1863,476,958 - 63,505,085 (+)EnsemblGRCh38hg38GRCh38
GRCh381863,476,958 - 63,505,085 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371861,144,191 - 61,172,318 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371861,144,144 - 61,172,318 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361859,295,199 - 59,323,297 (+)NCBINCBI36hg18NCBI36
Build 341859,295,198 - 59,323,297NCBI
Celera1857,864,608 - 57,892,790 (+)NCBI
Cytogenetic Map18q21.33NCBI
HuRef1857,843,583 - 57,871,802 (+)NCBIHuRef
CHM1_11861,140,108 - 61,168,279 (+)NCBICHM1_1
Serpinb5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391106,788,905 - 106,811,078 (+)NCBIGRCm39mm39
GRCm381106,861,175 - 106,883,348 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1106,861,173 - 106,883,348 (+)EnsemblGRCm38mm10GRCm38
MGSCv371108,757,757 - 108,779,925 (+)NCBIGRCm37mm9NCBIm37
MGSCv361108,688,727 - 108,710,895 (+)NCBImm8
Celera1109,710,530 - 109,732,695 (+)NCBICelera
Cytogenetic Map1E2.1NCBI
Serpinb5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21322,985,557 - 23,005,756 (+)NCBI
Rnor_6.0 Ensembl1326,903,052 - 26,923,250 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01326,903,052 - 26,923,250 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01332,053,528 - 32,073,726 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41313,037,587 - 13,057,785 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11313,037,586 - 13,057,785 (+)NCBI
Celera1322,842,781 - 22,862,980 (+)NCBICelera
Cytogenetic Map13p11NCBI
Serpinb5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540247,248,932 - 47,276,834 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540247,248,665 - 47,276,017 (+)NCBIChiLan1.0ChiLan1.0
SERPINB5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11860,148,552 - 60,176,624 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1860,148,552 - 60,176,624 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01856,836,403 - 56,864,533 (+)NCBIMhudiblu_PPA_v0panPan3
SERPINB5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl113,568,376 - 13,638,781 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1113,566,982 - 13,638,839 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Serpinb5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364972,067,796 - 2,089,965 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SERPINB5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1158,167,643 - 158,195,796 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11158,167,756 - 158,195,896 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21175,646,842 - 175,666,862 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SERPINB5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11816,256,700 - 16,284,410 (-)NCBI
ChlSab1.1 Ensembl1816,256,552 - 16,283,764 (-)Ensembl
Serpinb5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247929,196,932 - 9,220,147 (+)NCBI

Position Markers
GDB:435240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371861,170,959 - 61,171,117UniSTSGRCh37
Build 361859,321,939 - 59,322,097RGDNCBI36
Celera1857,891,431 - 57,891,589RGD
Cytogenetic Map18q21.33UniSTS
HuRef1857,870,442 - 57,870,600UniSTS
GDB:435245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371861,151,682 - 61,151,816UniSTSGRCh37
Build 361859,302,662 - 59,302,796RGDNCBI36
Celera1857,872,146 - 57,872,280RGD
Cytogenetic Map18q21.33UniSTS
SHGC-12569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371861,171,349 - 61,171,681UniSTSGRCh37
Build 361859,322,329 - 59,322,661RGDNCBI36
Celera1857,891,821 - 57,892,153RGD
Cytogenetic Map18q21.33UniSTS
HuRef1857,870,833 - 57,871,165UniSTS
TNG Radiation Hybrid Map1825224.0UniSTS
Stanford-G3 RH Map182424.0UniSTS
GeneMap99-GB4 RH Map18429.73UniSTS
Whitehead-RH Map18457.0UniSTS
Whitehead-YAC Contig Map18 UniSTS
NCBI RH Map18720.6UniSTS
GeneMap99-G3 RH Map182424.0UniSTS
SERPINB5_1312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371861,171,447 - 61,172,330UniSTSGRCh37
Build 361859,322,427 - 59,323,310RGDNCBI36
Celera1857,891,919 - 57,892,802RGD
HuRef1857,870,931 - 57,871,814UniSTS
RH17976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371861,171,862 - 61,172,047UniSTSGRCh37
Build 361859,322,842 - 59,323,027RGDNCBI36
Celera1857,892,334 - 57,892,519RGD
Cytogenetic Map18q21.33UniSTS
HuRef1857,871,346 - 57,871,531UniSTS
GeneMap99-GB4 RH Map18429.62UniSTS
D11S3014  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q14.1UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map12q24.11UniSTS
D11S3270  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map20p12.3UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic MapXq13.2-q21.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map14q23.1UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR21hsa-miR-21-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI18270520
MIR21hsa-miR-21-5pMirtarbaseexternal_infoReporter assay;Western blot;qRT-PCRFunctional MTI21636785
MIR21hsa-miR-21-5pMirtarbaseexternal_infoReporter assayFunctional MTI20693317

Predicted Target Of
Summary Value
Count of predictions:1042
Count of miRNA genes:644
Interacting mature miRNAs:703
Transcripts:ENST00000382771, ENST00000424602, ENST00000464346, ENST00000465652, ENST00000489441, ENST00000588986
Prediction methods:Microtar, 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.


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 1 1
Medium 209 2 9 131 54 10 1334 12 3 39 272 130 137 1 16 704 1
Low 441 59 91 62 141 24 127 82 84 17 711 237 37 56 60 2 2
Below cutoff 1672 2573 1251 218 1045 218 2620 1914 2929 117 406 1077 1040 1884 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000382771   ⟹   ENSP00000372221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1863,476,958 - 63,505,085 (+)Ensembl
RefSeq Acc Id: ENST00000424602   ⟹   ENSP00000408821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1863,477,127 - 63,489,427 (+)Ensembl
RefSeq Acc Id: ENST00000464346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1863,490,627 - 63,503,397 (+)Ensembl
RefSeq Acc Id: ENST00000465652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1863,490,618 - 63,503,375 (+)Ensembl
RefSeq Acc Id: ENST00000489441   ⟹   ENSP00000467158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1863,476,958 - 63,493,701 (+)Ensembl
RefSeq Acc Id: ENST00000588986
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1863,486,677 - 63,489,463 (+)Ensembl
RefSeq Acc Id: NM_002639   ⟹   NP_002630
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381863,476,958 - 63,505,085 (+)NCBI
GRCh371861,144,144 - 61,172,318 (+)ENTREZGENE
Build 361859,295,199 - 59,323,297 (+)NCBI Archive
HuRef1857,843,583 - 57,871,802 (+)ENTREZGENE
CHM1_11861,140,108 - 61,168,279 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722483   ⟹   XP_006722546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381863,490,659 - 63,503,929 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002630   ⟸   NM_002639
- UniProtKB: P36952 (UniProtKB/Swiss-Prot),   A0A024R2B6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006722546   ⟸   XM_006722483
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000408821   ⟸   ENST00000424602
RefSeq Acc Id: ENSP00000467158   ⟸   ENST00000489441
RefSeq Acc Id: ENSP00000372221   ⟸   ENST00000382771
Protein Domains
SERPIN

Promoters
RGD ID:6794992
Promoter ID:HG_KWN:28151
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000280629,   OTTHUMT00000280631,   UC002LIY.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361859,294,831 - 59,295,331 (+)MPROMDB
RGD ID:6794994
Promoter ID:HG_KWN:28152
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000280632,   OTTHUMT00000280633
Position:
Human AssemblyChrPosition (strand)Source
Build 361859,308,581 - 59,309,081 (+)MPROMDB
RGD ID:7237501
Promoter ID:EPDNEW_H24496
Type:initiation region
Name:SERPINB5_1
Description:serpin family B member 5
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
GRCh381863,476,958 - 63,477,018EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3 copy number gain See cases [RCV000052572] Chr18:63195579..80234429 [GRCh38]
Chr18:60862812..77992312 [GRCh37]
Chr18:59013792..76093303 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18q21.32-21.33(chr18:61092555-63621755)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053874]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053874]|See cases [RCV000053874] Chr18:61092555..63621755 [GRCh38]
Chr18:58759788..61288989 [GRCh37]
Chr18:56910768..59439969 [NCBI36]
Chr18:18q21.32-21.33
pathogenic
GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1 copy number loss See cases [RCV000053875] Chr18:62999696..80209986 [GRCh38]
Chr18:60666929..77967869 [GRCh37]
Chr18:58817909..76068860 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 copy number loss See cases [RCV000053836] Chr18:52156899..65408762 [GRCh38]
Chr18:49683269..63075998 [GRCh37]
Chr18:47937267..61226978 [NCBI36]
Chr18:18q21.2-22.1
pathogenic
NM_002639.4(SERPINB5):c.1104C>T (p.Phe368=) single nucleotide variant Malignant melanoma [RCV000071868] Chr18:63503698 [GRCh38]
Chr18:61170931 [GRCh37]
Chr18:59321911 [NCBI36]
Chr18:18q21.33
not provided
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1 copy number loss See cases [RCV000133689] Chr18:59567681..80252149 [GRCh38]
Chr18:57234913..78010032 [GRCh37]
Chr18:55385893..76111023 [NCBI36]
Chr18:18q21.32-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1 copy number loss See cases [RCV000135838] Chr18:63306200..80252149 [GRCh38]
Chr18:60973433..78010032 [GRCh37]
Chr18:59124413..76111023 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1 copy number loss See cases [RCV000135616] Chr18:61576009..80252149 [GRCh38]
Chr18:59243242..78010032 [GRCh37]
Chr18:57394222..76111023 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1 copy number loss See cases [RCV000135567] Chr18:61827111..80252149 [GRCh38]
Chr18:59494344..78010032 [GRCh37]
Chr18:57645324..76111023 [NCBI36]
Chr18:18q21.33-23
pathogenic|uncertain significance
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1
pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.33-22.1(chr18:63144445-64588458)x3 copy number gain See cases [RCV000139938] Chr18:63144445..64588458 [GRCh38]
Chr18:60811678..62255693 [GRCh37]
Chr18:58962658..60406673 [NCBI36]
Chr18:18q21.33-22.1
uncertain significance
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1 copy number loss See cases [RCV000139669] Chr18:59996934..80254946 [GRCh38]
Chr18:57664166..78012829 [GRCh37]
Chr18:55815146..76113817 [NCBI36]
Chr18:18q21.32-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1 copy number loss See cases [RCV000141429] Chr18:61613338..80252090 [GRCh38]
Chr18:59280571..78009973 [GRCh37]
Chr18:57431551..76110964 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3
pathogenic
GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3 copy number gain See cases [RCV000143195] Chr18:59909593..72609801 [GRCh38]
Chr18:57576825..70277036 [GRCh37]
Chr18:55727805..68428016 [NCBI36]
Chr18:18q21.32-22.3
likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1 copy number loss See cases [RCV000240432] Chr18:58014591..68158862 [GRCh37]
Chr18:18q21.32-22.2
pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3 copy number gain See cases [RCV000240296] Chr18:58525322..78005236 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1 copy number loss not provided [RCV000416006] Chr18:59461447..78010032 [GRCh37]
Chr18:18q21.33-23
likely pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1 copy number loss See cases [RCV000449209] Chr18:55793243..68705548 [GRCh37]
Chr18:18q21.31-22.3
pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)x1 copy number loss See cases [RCV000449163] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1 copy number loss See cases [RCV000446087] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1
pathogenic
GRCh37/hg19 18q21.33(chr18:61144239-61325868)x3 copy number gain See cases [RCV000447599] Chr18:61144239..61325868 [GRCh37]
Chr18:18q21.33
uncertain significance
GRCh37/hg19 18q21.33-23(chr18:60641553-78014123)x1 copy number loss See cases [RCV000447127] Chr18:60641553..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:60796196-78014123)x1 copy number loss See cases [RCV000446171] Chr18:60796196..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23
likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1 copy number loss See cases [RCV000510685] Chr18:59809990..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1
pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1 copy number loss See cases [RCV000511105] Chr18:59876469..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV000768454] Chr18:58024137..77996821 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1 copy number loss See cases [RCV000512579] Chr18:58768873..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1 copy number loss not provided [RCV000684055] Chr18:60416709..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1 copy number loss not provided [RCV000684056] Chr18:55083032..72743857 [GRCh37]
Chr18:18q21.31-22.3
pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 copy number loss not provided [RCV000684058] Chr18:56905884..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1 copy number loss not provided [RCV001007019] Chr18:60098018..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.32-22.1(chr18:57244903-63722436)x1 copy number loss not provided [RCV000752355] Chr18:57244903..63722436 [GRCh37]
Chr18:18q21.32-22.1
benign
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1 copy number loss not provided [RCV000752356] Chr18:57244903..77325446 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:59585959-78015180)x1 copy number loss not provided [RCV000752366] Chr18:59585959..78015180 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33
pathogenic
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8949 AgrOrtholog
COSMIC SERPINB5 COSMIC
Ensembl Genes ENSG00000206075 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000372221 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000408821 UniProtKB/TrEMBL
  ENSP00000467158 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000382771 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000424602 UniProtKB/TrEMBL
  ENST00000489441 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.39.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.497.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000206075 GTEx
HGNC ID HGNC:8949 ENTREZGENE
Human Proteome Map SERPINB5 Human Proteome Map
InterPro Serpin_B9/Maspin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERPINB5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5268 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5268 ENTREZGENE
OMIM 154790 OMIM
PANTHER PTHR11461 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Serpin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35515 PharmGKB
PRINTS MASPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SERPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SERPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56574 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R2B6 ENTREZGENE, UniProtKB/TrEMBL
  C9JLM5_HUMAN UniProtKB/TrEMBL
  P36952 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R6Y4 UniProtKB/Swiss-Prot
  Q6N0B4 UniProtKB/Swiss-Prot
  Q8WW89 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 SERPINB5  serpin family B member 5    serpin peptidase inhibitor, clade B (ovalbumin), member 5  Symbol and/or name change 5135510 APPROVED