GJD2-DT (GJD2 divergent transcript) - Rat Genome Database

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Gene: GJD2-DT (GJD2 divergent transcript) Homo sapiens
Analyze
Symbol: GJD2-DT
Name: GJD2 divergent transcript
RGD ID: 16558701
HGNC Page HGNC:55560
Description: Predicted to be involved in SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition. Predicted to be part of signal recognition particle, endoplasmic reticulum targeting.
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: AC087457.1; LOC101928174; novel transcript, antisense to ACTC1; uncharacterized LOC101928174
RGD Orthologs
Mouse
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381534,755,084 - 34,812,923 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1534,755,062 - 34,813,505 (+)EnsemblGRCh38hg38GRCh38
GRCh371535,047,285 - 35,105,124 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15q14NCBI
HuRef1511,893,015 - 11,950,608 (+)NCBIHuRef
CHM1_11535,165,254 - 35,223,120 (+)NCBICHM1_1
T2T-CHM13v2.01532,560,275 - 32,618,127 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


1 to 20 of 197 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GJD2-DTHumanarthrogryposis multiplex congenita  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ArthrogryposisClinVarPMID:25741868 and PMID:36945405
GJD2-DTHumanatrial heart septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septal defectClinVarPMID:28492532
GJD2-DTHumanatrial heart septal defect  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Atrial septal defectClinVar 
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:24033266 more ...
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:10966831 more ...
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:25741868 more ...
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:25741868 and PMID:28492532
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:24033266 more ...
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:28492532 and PMID:33495597
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:2255271 more ...
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:18403758 more ...
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:28492532 and PMID:37652022
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:28492532
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:25741868 more ...
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:17947298
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:27600940 more ...
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:24033266 more ...
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:17576681 more ...
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:22464770 more ...
GJD2-DTHumanatrial heart septal defect 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septal defect 5ClinVarPMID:17947298 more ...
1 to 20 of 197 rows


  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GJD2-DTHumanaristolochic acid A increases expressionEXP 6480464aristolochic acid I results in increased expression of GJD2-DT mRNACTDPMID:33212167


Biological Process

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GJD2-DTHumanSRP-dependent cotranslational protein targeting to membrane, signal sequence recognition involved_inIEARfam:RF00017150520179 RNAcentralGO_REF:0000115

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GJD2-DTHumansignal recognition particle, endoplasmic reticulum targeting part_ofIEARfam:RF00017150520179 RNAcentralGO_REF:0000115

1 to 20 of 399 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GJD2-DTHumanArthrogryposis multiplex congenita  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ArthrogryposisClinVarPMID:25741868 and PMID:36945405
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Defect in the atrial septumClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
GJD2-DTHumanAtrial septal defect  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial septum defectClinVar 
1 to 20 of 399 rows
PMID:14702039   PMID:22219177  



GJD2-DT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381534,755,084 - 34,812,923 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1534,755,062 - 34,813,505 (+)EnsemblGRCh38hg38GRCh38
GRCh371535,047,285 - 35,105,124 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15q14NCBI
HuRef1511,893,015 - 11,950,608 (+)NCBIHuRef
CHM1_11535,165,254 - 35,223,120 (+)NCBICHM1_1
T2T-CHM13v2.01532,560,275 - 32,618,127 (+)NCBIT2T-CHM13v2.0
Gjd2os
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392113,844,046 - 113,862,773 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2113,844,083 - 113,862,773 (+)EnsemblGRCm39 Ensembl
GRCm39 Ensembl2113,844,044 - 113,905,863 (+)EnsemblGRCm39 Ensembl
GRCm382114,013,565 - 114,032,292 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2114,013,563 - 114,068,324 (+)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl2114,013,602 - 114,032,292 (+)EnsemblGRCm38mm10GRCm38
MGSCv372113,839,301 - 113,858,028 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362113,704,792 - 113,723,733 (+)NCBIMGSCv36mm8
Celera2115,142,728 - 115,161,458 (+)NCBICelera
Cytogenetic Map2E4NCBI
cM Map257.54NCBI

.

.
Variants in GJD2-DT
772 total Variants

1 to 10 of 849 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_005159.5(ACTC1):c.383C>A (p.Thr128Asn) single nucleotide variant Dilated cardiomyopathy 1R [RCV003394007]|Hypertrophic cardiomyopathy 11 [RCV001367725] Chr15:34793316 [GRCh38]
Chr15:35085517 [GRCh37]
Chr15:15q14		 uncertain significance
NM_005159.5(ACTC1):c.809-58TG[31] microsatellite not specified [RCV003317876] Chr15:34791307..34791308 [GRCh38]
Chr15:35083508..35083509 [GRCh37]
Chr15:15q14		 benign
NM_005159.5(ACTC1):c.778C>T (p.Pro260Ser) single nucleotide variant Cardiovascular phenotype [RCV003296958] Chr15:34792120 [GRCh38]
Chr15:35084321 [GRCh37]
Chr15:15q14		 uncertain significance
NM_005159.5(ACTC1):c.870T>C (p.Asp290=) single nucleotide variant Cardiovascular phenotype [RCV003296959] Chr15:34791234 [GRCh38]
Chr15:35083435 [GRCh37]
Chr15:15q14		 likely benign
NM_005159.5(ACTC1):c.-23+138_-23+139dup duplication not provided [RCV001541461] Chr15:34795351..34795352 [GRCh38]
Chr15:35087552..35087553 [GRCh37]
Chr15:15q14		 benign
NM_005159.5(ACTC1):c.129+6C>G single nucleotide variant ACTC1-related disorder [RCV003965297]|Cardiomyopathy [RCV000769474]|Dilated cardiomyopathy 1R [RCV001121483]|Hypertrophic cardiomyopathy 11 [RCV000877118]|Hypertrophic cardiomyopathy 11 [RCV001121484]|Hypertrophic cardiomyopathy [RCV004002632]|not provided [RCV001719149] Chr15:34794674 [GRCh38]
Chr15:35086875 [GRCh37]
Chr15:15q14		 benign|likely benign|uncertain significance
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser) single nucleotide variant Hypertrophic cardiomyopathy 11 [RCV001234157]|not provided [RCV000484679]|not specified [RCV000038325] Chr15:34793389 [GRCh38]
Chr15:35085590 [GRCh37]
Chr15:15q14		 likely pathogenic|uncertain significance
NM_005159.4(ACTC1):c.*777C>T single nucleotide variant Dilated cardiomyopathy 1R [RCV000282214]|Hypertrophic cardiomyopathy 11 [RCV000372433] Chr15:34789635 [GRCh38]
Chr15:35081836 [GRCh37]
Chr15:15q14		 uncertain significance
NM_005159.4(ACTC1):c.*1802C>T single nucleotide variant Dilated cardiomyopathy 1R [RCV001116178]|Hypertrophic cardiomyopathy 11 [RCV001116179] Chr15:34788610 [GRCh38]
Chr15:35080811 [GRCh37]
Chr15:15q14		 uncertain significance
NM_005159.4(ACTC1):c.-228C>A single nucleotide variant Dilated cardiomyopathy 1R [RCV000391782]|Hypertrophic cardiomyopathy 11 [RCV000285317]|not provided [RCV001613011] Chr15:34795711 [GRCh38]
Chr15:35087912 [GRCh37]
Chr15:15q14		 benign|uncertain significance
1 to 10 of 849 rows

Predicted Target Of
Summary Value
Count of predictions:389
Count of miRNA genes:311
Interacting mature miRNAs:335
Transcripts:ENST00000503496, ENST00000558707
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
310 884 1741 2110 3659 554 636 3 71 390 33 810 3844 3266 38 3183 365 1056 468 50 1



Ensembl Acc Id: ENST00000503496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1534,755,084 - 34,813,284 (+)Ensembl
Ensembl Acc Id: ENST00000558707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1534,755,062 - 34,790,869 (+)Ensembl
Ensembl Acc Id: ENST00000661009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1534,796,351 - 34,812,072 (+)Ensembl
Ensembl Acc Id: ENST00000671663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1534,755,084 - 34,813,505 (+)Ensembl
Ensembl Acc Id: ENST00000693120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1534,755,062 - 34,790,871 (+)Ensembl
Ensembl Acc Id: ENST00000713607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1534,777,389 - 34,790,807 (+)Ensembl
Ensembl Acc Id: ENST00000808234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1534,755,084 - 34,790,868 (+)Ensembl
Ensembl Acc Id: ENST00000808235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1534,755,108 - 34,790,866 (+)Ensembl
Ensembl Acc Id: ENST00000808236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1534,755,112 - 34,790,868 (+)Ensembl
Ensembl Acc Id: ENST00000808237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1534,755,100 - 34,790,774 (+)Ensembl
Ensembl Acc Id: ENST00000808238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1534,755,107 - 34,776,279 (+)Ensembl
Ensembl Acc Id: ENST00000808239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1534,794,356 - 34,810,818 (+)Ensembl
Ensembl Acc Id: ENST00000808240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1534,795,663 - 34,810,818 (+)Ensembl
Ensembl Acc Id: ENST00000808241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1534,794,501 - 34,805,875 (+)Ensembl
RefSeq Acc Id: NR_120329
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381534,755,084 - 34,812,923 (+)NCBI
T2T-CHM13v2.01532,560,275 - 32,618,127 (+)NCBI
Sequence:


1 to 13 of 13 rows
Database
Acc Id
Source(s)
COSMIC GJD2-DT COSMIC
Ensembl Genes ENSG00000250007 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000503496 ENTREZGENE
GTEx ENSG00000250007 GTEx
HGNC ID HGNC:55560 ENTREZGENE
Human Proteome Map GJD2-DT Human Proteome Map
NCBI Gene LOC101928174 ENTREZGENE
RNAcentral URS000009E1B8 RNACentral
  URS0000EF40D3 RNACentral
  URS0000EF668E RNACentral
  URS0000EF6EB2 RNACentral
  URS00025EA417 RNACentral
  URS00025F66CD RNACentral
1 to 13 of 13 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-04-12 GJD2-DT  GJD2 divergent transcript  AC087457.1  novel transcript, antisense to ACTC1  Symbol and/or name change 19259463 PROVISIONAL
2020-06-25 AC087457.1  novel transcript, antisense to ACTC1  LOC101928174  uncharacterized LOC101928174  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LOC101928174  uncharacterized LOC101928174  AC087457.1  novel transcript, antisense to ACTC1  Symbol and/or name change 5135510 APPROVED