RGN (regucalcin) - Rat Genome Database
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Gene: RGN (regucalcin) Homo sapiens
Analyze
Symbol: RGN
Name: regucalcin
RGD ID: 732128
HGNC Page HGNC
Description: Exhibits calcium ion binding activity; gluconolactonase activity; and zinc ion binding activity. Predicted to be involved in several processes, including L-ascorbic acid biosynthetic process; positive regulation of ATPase activity; and regulation of calcium-mediated signaling. Predicted to localize to cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: epididymis secretory protein Li 41; gluconolactonase; GNL; HEL-S-41; RC; senescence marker protein 30; senescence marker protein-30; SMP-30; SMP30
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 EnsemblX47,078,355 - 47,093,314 (+)EnsemblGRCh38hg38GRCh38
GRCh38X47,078,414 - 47,093,313 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X46,937,775 - 46,952,712 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37X46,937,842 - 46,952,712 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,822,719 - 46,837,656 (+)NCBINCBI36hg18NCBI36
Build 34X46,696,510 - 46,708,966NCBI
CeleraX51,129,720 - 51,148,035 (+)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX44,651,176 - 44,667,384 (+)NCBIHuRef
CHM1_1X46,969,543 - 46,984,508 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (ISO)
Aroclor 1254  (ISO)
bacitracin  (ISO)
benzo[a]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
carbon nanotube  (ISO)
cefaloridine  (ISO)
chromium trinitrate  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
clotrimazole  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
coumarin  (ISO)
cycloheximide  (ISO)
cyclosporin A  (EXP,ISO)
cyproconazole  (ISO)
dexamethasone  (ISO)
Diallyl sulfide  (ISO)
diclofenac  (ISO)
dicrotophos  (EXP)
diisopropyl fluorophosphate  (ISO)
dioscin  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
flavonoids  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
Hexachloro-1,3-butadiene  (ISO)
hydrazine  (ISO)
indoxyl sulfate  (EXP)
melatonin  (EXP)
methapyrilene  (ISO)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
nimesulide  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
paracetamol  (EXP,ISO)
pent-4-enoic acid  (ISO)
perfluorododecanoic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
polaprezinc  (ISO)
potassium chromate  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
Propiverine  (ISO)
quercetin  (EXP)
rac-1,2-dichloropropane  (ISO)
resveratrol  (ISO)
rotenone  (ISO)
sarin  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
Soman  (ISO)
tacrolimus hydrate  (ISO)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
triclosan  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
zinc sulfate  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aging  (IEA,ISO)
cellular calcium ion homeostasis  (ISO,ISS)
kidney development  (IEA,ISO)
L-ascorbic acid biosynthetic process  (IBA,ISO)
liver development  (ISO)
liver regeneration  (IEA,ISO)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of bone development  (IEA,ISO)
negative regulation of calcium-dependent ATPase activity  (IEA,ISO)
negative regulation of cyclic-nucleotide phosphodiesterase activity  (IEA,ISO)
negative regulation of DNA biosynthetic process  (IEA,ISO)
negative regulation of DNA catabolic process  (IEA,ISO)
negative regulation of epithelial cell proliferation  (IEA,ISO)
negative regulation of flagellated sperm motility  (IEA,ISO)
negative regulation of GTPase activity  (IEA,ISO)
negative regulation of leucine-tRNA ligase activity  (IEA,ISO)
negative regulation of nitric oxide biosynthetic process  (IEA,ISO)
negative regulation of phosphoprotein phosphatase activity  (IEA,ISO)
negative regulation of protein kinase activity  (IEA,ISO)
negative regulation of protein phosphorylation  (ISO)
negative regulation of RNA biosynthetic process  (IEA,ISO)
positive regulation of ATPase activity  (ISO,ISS)
positive regulation of ATPase-coupled calcium transmembrane transporter activity  (IEA,ISO)
positive regulation of dUTP diphosphatase activity  (IEA,ISO)
positive regulation of fatty acid biosynthetic process  (IEA,ISO)
positive regulation of glucose metabolic process  (IEA,ISO)
positive regulation of GTPase activity  (IEA,ISO)
positive regulation of phosphatase activity  (IEA,ISO)
positive regulation of proteolysis involved in cellular protein catabolic process  (IEA,ISO)
positive regulation of superoxide dismutase activity  (IEA,ISO)
positive regulation of triglyceride biosynthetic process  (IEA,ISO)
regulation of calcium-mediated signaling  (ISO,ISS)
spermatogenesis  (IEA,ISO)

Cellular Component
cytoplasm  (ISO,ISS)
cytosol  (IEA,ISO)
nucleus  (ISO,ISS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7548213   PMID:8125298   PMID:9753637   PMID:9920722   PMID:10360682   PMID:10677570   PMID:11944989   PMID:12477932   PMID:12619687   PMID:15247044   PMID:15358188   PMID:15489334  
PMID:15502314   PMID:15604093   PMID:15714273   PMID:15772651   PMID:15962315   PMID:18507831   PMID:19214710   PMID:19347872   PMID:19690176   PMID:19801822   PMID:19946731   PMID:20152811  
PMID:20329768   PMID:20590846   PMID:21047503   PMID:21347421   PMID:21431902   PMID:21526343   PMID:21680783   PMID:21684279   PMID:21687737   PMID:21873635   PMID:22121208   PMID:22652898  
PMID:23349732   PMID:23453039   PMID:23692083   PMID:24606440   PMID:24975685   PMID:25050833   PMID:25128811   PMID:25230901   PMID:25847529   PMID:26072307   PMID:26171977   PMID:26344197  
PMID:26619319   PMID:26935290   PMID:27221776   PMID:27411833   PMID:27633001   PMID:27991558   PMID:28028056   PMID:28181135   PMID:28514442   PMID:29141388   PMID:29956741   PMID:30266650  
PMID:30387835   PMID:31718698  


Genomics

Comparative Map Data
RGN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX47,078,355 - 47,093,314 (+)EnsemblGRCh38hg38GRCh38
GRCh38X47,078,414 - 47,093,313 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X46,937,775 - 46,952,712 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37X46,937,842 - 46,952,712 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,822,719 - 46,837,656 (+)NCBINCBI36hg18NCBI36
Build 34X46,696,510 - 46,708,966NCBI
CeleraX51,129,720 - 51,148,035 (+)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX44,651,176 - 44,667,384 (+)NCBIHuRef
CHM1_1X46,969,543 - 46,984,508 (+)NCBICHM1_1
Rgn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X20,416,005 - 20,428,328 (+)NCBIGRCm39mm39
GRCm38X20,549,766 - 20,562,089 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX20,549,787 - 20,562,089 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X20,126,944 - 20,139,213 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X19,706,777 - 19,719,046 (+)NCBImm8
CeleraX18,681,357 - 18,693,626 (+)NCBICelera
Cytogenetic MapXA1.3NCBI
Rgn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X1,619,030 - 1,634,456 (-)NCBI
Rnor_6.0 EnsemblX1,833,492 - 1,848,904 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X1,833,484 - 1,848,904 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X2,626,525 - 2,641,949 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X13,037,171 - 13,052,846NCBIRGSC3.4rn4RGSC3.4
CeleraX2,182,952 - 2,198,371 (-)NCBICelera
Cytogenetic MapXq11NCBI
Rgn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955516955,680 - 978,910 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955516958,416 - 978,829 (-)NCBIChiLan1.0ChiLan1.0
RGN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X47,371,225 - 47,388,881 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX47,371,226 - 47,388,881 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X39,513,135 - 39,530,188 (+)NCBIMhudiblu_PPA_v0panPan3
RGN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 EnsemblX40,698,768 - 40,715,490 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1X40,697,292 - 40,715,491 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Rgn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493650212,872,938 - 12,891,270 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RGN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX41,726,526 - 41,749,726 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X41,725,660 - 41,749,736 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X46,902,494 - 46,926,414 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RGN
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X44,282,825 - 44,299,027 (+)NCBI
ChlSab1.1 EnsemblX44,285,601 - 44,299,258 (+)Ensembl
Rgn
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248873,881,624 - 3,900,144 (+)NCBI

Position Markers
RGN_8898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X46,952,374 - 46,952,912UniSTSGRCh37
Build 36X46,837,318 - 46,837,856RGDNCBI36
CeleraX51,147,697 - 51,148,235RGD
HuRefX44,667,046 - 44,667,584UniSTS
RH12606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X46,952,485 - 46,952,639UniSTSGRCh37
Build 36X46,837,429 - 46,837,583RGDNCBI36
CeleraX51,147,808 - 51,147,962RGD
Cytogenetic MapXp11.3UniSTS
HuRefX44,667,157 - 44,667,311UniSTS
GeneMap99-GB4 RH MapX138.25UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:867
Count of miRNA genes:330
Interacting mature miRNAs:343
Transcripts:ENST00000336169, ENST00000352078, ENST00000397180, ENST00000457380, ENST00000469346, ENST00000475448
Prediction methods:Miranda, Pita, 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
Medium 745 1383 1448 435 22 430 641 489 2149 264 570 1176 5 45 608 1
Low 1471 890 257 179 561 22 3519 1633 1499 99 764 238 157 1156 2128 1 1
Below cutoff 158 586 10 6 845 9 139 50 52 36 85 111 4 1 3 52 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001282848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB028125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB032064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D31815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY260443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000336169   ⟹   ENSP00000338400
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,080,859 - 47,093,310 (+)Ensembl
RefSeq Acc Id: ENST00000352078   ⟹   ENSP00000253303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,078,380 - 47,093,313 (+)Ensembl
RefSeq Acc Id: ENST00000397180   ⟹   ENSP00000380365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,078,443 - 47,093,313 (+)Ensembl
RefSeq Acc Id: ENST00000457380   ⟹   ENSP00000406568
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,078,355 - 47,093,314 (+)Ensembl
RefSeq Acc Id: ENST00000469346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,078,425 - 47,084,961 (+)Ensembl
RefSeq Acc Id: ENST00000475448
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,084,538 - 47,093,308 (+)Ensembl
RefSeq Acc Id: NM_001282848   ⟹   NP_001269777
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,078,443 - 47,093,313 (+)NCBI
HuRefX44,651,176 - 44,667,385 (+)NCBI
CHM1_1X46,969,543 - 46,984,508 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282849   ⟹   NP_001269778
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,078,443 - 47,093,313 (+)NCBI
HuRefX44,651,176 - 44,667,385 (+)NCBI
CHM1_1X46,969,543 - 46,984,508 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004683   ⟹   NP_004674
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,078,443 - 47,093,313 (+)NCBI
GRCh37X46,937,775 - 46,952,712 (+)ENTREZGENE
GRCh37X46,937,775 - 46,952,712 (+)NCBI
Build 36X46,822,719 - 46,837,656 (+)NCBI Archive
HuRefX44,651,176 - 44,667,385 (+)NCBI
CHM1_1X46,969,543 - 46,984,508 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152869   ⟹   NP_690608
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,078,443 - 47,093,313 (+)NCBI
GRCh37X46,937,775 - 46,952,712 (+)ENTREZGENE
GRCh37X46,937,775 - 46,952,712 (+)NCBI
Build 36X46,822,719 - 46,837,656 (+)NCBI Archive
HuRefX44,651,176 - 44,667,385 (+)NCBI
CHM1_1X46,969,543 - 46,984,508 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724567   ⟹   XP_006724630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,078,419 - 47,093,313 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724568   ⟹   XP_006724631
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,078,419 - 47,093,313 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029954   ⟹   XP_016885443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,078,414 - 47,093,313 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452477   ⟹   XP_024308245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,078,414 - 47,093,313 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_690608   ⟸   NM_152869
- Peptide Label: isoform 1
- UniProtKB: Q15493 (UniProtKB/Swiss-Prot),   V9HWF8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004674   ⟸   NM_004683
- Peptide Label: isoform 1
- UniProtKB: Q15493 (UniProtKB/Swiss-Prot),   V9HWF8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269778   ⟸   NM_001282849
- Peptide Label: isoform 3
- UniProtKB: Q15493 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269777   ⟸   NM_001282848
- Peptide Label: isoform 2
- UniProtKB: Q15493 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724630   ⟸   XM_006724567
- Peptide Label: isoform X2
- UniProtKB: Q15493 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724631   ⟸   XM_006724568
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885443   ⟸   XM_017029954
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024308245   ⟸   XM_024452477
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000338400   ⟸   ENST00000336169
RefSeq Acc Id: ENSP00000406568   ⟸   ENST00000457380
RefSeq Acc Id: ENSP00000253303   ⟸   ENST00000352078
RefSeq Acc Id: ENSP00000380365   ⟸   ENST00000397180
Protein Domains
SGL

Promoters
RGD ID:13605134
Promoter ID:EPDNEW_H28752
Type:initiation region
Name:RGN_1
Description:regucalcin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28753  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,078,443 - 47,078,503EPDNEW
RGD ID:13605138
Promoter ID:EPDNEW_H28753
Type:multiple initiation site
Name:RGN_2
Description:regucalcin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28752  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,080,840 - 47,080,900EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1 copy number loss See cases [RCV000053088] ChrX:41434043..47880733 [GRCh38]
ChrX:41293296..47619970 [GRCh37]
ChrX:41178240..47625076 [NCBI36]
ChrX:Xp11.4-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.3(chrX:46464096-47419599)x2 copy number gain See cases [RCV000139661] ChrX:46464096..47419599 [GRCh38]
ChrX:46323531..47278998 [GRCh37]
ChrX:46208475..47163942 [NCBI36]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44632305-47607180)x2 copy number gain See cases [RCV000143089] ChrX:44632305..47607180 [GRCh38]
ChrX:44491551..47466579 [GRCh37]
ChrX:44376495..47351523 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp11.23(chrX:46950670-47035430)x2 copy number gain See cases [RCV000510283] ChrX:46950670..47035430 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp11.23(chrX:46950670-47024580)x4 copy number gain See cases [RCV000511948] ChrX:46950670..47024580 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.23(chrX:46406614-46942050)x3 copy number gain not provided [RCV000684328] ChrX:46406614..46942050 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23(chrX:46647617-47413846)x2 copy number gain not provided [RCV000684329] ChrX:46647617..47413846 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp11.23(chrX:46934309-46967624)x0 copy number loss not provided [RCV000753531] ChrX:46934309..46967624 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NC_000023.10:g.(?_45605561)_(46952346_?)del deletion not provided [RCV001031576] ChrX:45605561..46952346 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_152869.4(RGN):c.346+10C>T single nucleotide variant not provided [RCV000896721] ChrX:47084610 [GRCh38]
ChrX:46944009 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_152869.4(RGN):c.301C>T (p.Arg101Cys) single nucleotide variant not provided [RCV000958317] ChrX:47084555 [GRCh38]
ChrX:46943954 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp11.3-11.23(chrX:46331758-46999539)x2 copy number gain not provided [RCV001007299] ChrX:46331758..46999539 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
NC_000023.10:g.(?_46719423)_(46952346_?)del deletion not provided [RCV001031769] ChrX:46719423..46952346 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp11.23(chrX:46942052-47379255)x3 copy number gain not provided [RCV001258952] ChrX:46942052..47379255 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9989 AgrOrtholog
COSMIC RGN COSMIC
Ensembl Genes ENSG00000130988 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000253303 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000338400 UniProtKB/Swiss-Prot
  ENSP00000380365 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000406568 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000336169 UniProtKB/Swiss-Prot
  ENST00000352078 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000397180 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000457380 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.120.10.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130988 GTEx
HGNC ID HGNC:9989 ENTREZGENE
Human Proteome Map RGN Human Proteome Map
InterPro 6-blade_b-propeller_TolB-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Regucalcin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SGL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMP-30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9104 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9104 ENTREZGENE
OMIM 300212 OMIM
Pfam SGL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34359 PharmGKB
PRINTS REGUCALCIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMP30FAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt Q15493 ENTREZGENE, UniProtKB/Swiss-Prot
  V9HWF8 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A4FTW1 UniProtKB/Swiss-Prot
  A8K271 UniProtKB/Swiss-Prot
  Q53FC9 UniProtKB/Swiss-Prot
  Q5JRR5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-07-30 RGN  regucalcin  RGN  regucalcin (senescence marker protein-30)  Symbol and/or name change 5135510 APPROVED