RTBDN (retbindin) - Rat Genome Database
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Gene: RTBDN (retbindin) Homo sapiens
Analyze
Symbol: RTBDN
Name: retbindin
RGD ID: 1606213
HGNC Page HGNC
Description: Predicted to have riboflavin binding activity; riboflavin transmembrane transporter activity; and signaling receptor activity. Predicted to be involved in riboflavin transport. Predicted to localize to anchored component of external side of plasma membrane and extrinsic component of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ36353
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 Ensembl1912,825,478 - 12,835,428 (-)EnsemblGRCh38hg38GRCh38
GRCh381912,825,482 - 12,835,428 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371912,936,291 - 12,946,242 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,797,296 - 12,807,230 (-)NCBINCBI36hg18NCBI36
Celera1912,826,003 - 12,835,935 (-)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,507,931 - 12,517,838 (-)NCBIHuRef
CHM1_11912,936,788 - 12,946,749 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Ependymomas  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12107411   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:16712791   PMID:17207965   PMID:19862010   PMID:21697133   PMID:21873635   PMID:25542898  
PMID:26186194   PMID:28514442   PMID:29721980  


Genomics

Comparative Map Data
RTBDN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1912,825,478 - 12,835,428 (-)EnsemblGRCh38hg38GRCh38
GRCh381912,825,482 - 12,835,428 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371912,936,291 - 12,946,242 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,797,296 - 12,807,230 (-)NCBINCBI36hg18NCBI36
Celera1912,826,003 - 12,835,935 (-)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,507,931 - 12,517,838 (-)NCBIHuRef
CHM1_11912,936,788 - 12,946,749 (-)NCBICHM1_1
Rtbdn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39885,672,880 - 85,683,235 (+)NCBIGRCm39mm39
GRCm38884,946,991 - 84,956,606 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl884,946,991 - 84,956,603 (+)EnsemblGRCm38mm10GRCm38
MGSCv37887,470,890 - 87,480,502 (+)NCBIGRCm37mm9NCBIm37
MGSCv36887,837,096 - 87,846,708 (+)NCBImm8
Celera889,247,241 - 89,256,894 (+)NCBICelera
Cytogenetic Map8C3NCBI
Rtbdn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01926,065,784 - 26,073,194 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1926,066,127 - 26,073,194 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01937,041,750 - 37,048,817 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41924,853,294 - 24,860,541 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11924,858,403 - 24,865,634 (-)NCBI
Celera1922,754,995 - 22,761,858 (-)NCBICelera
Cytogenetic Map19q11NCBI
Rtbdn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541531,895,507 - 31,899,303 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541531,895,446 - 31,899,927 (-)NCBIChiLan1.0ChiLan1.0
RTBDN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11913,129,659 - 13,139,842 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1913,129,659 - 13,139,842 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01912,387,165 - 12,397,157 (-)NCBIMhudiblu_PPA_v0panPan3
RTBDN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2049,334,127 - 49,337,223 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12049,324,843 - 49,337,226 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Rtbdn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366591,907,933 - 1,911,690 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RTBDN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl266,188,089 - 66,193,654 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1266,188,077 - 66,191,434 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2266,529,481 - 66,546,422 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RTBDN
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1611,508,417 - 11,524,011 (-)NCBI
Rtbdn
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624901421,624 - 426,655 (-)NCBI

Position Markers
D19S914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371912,941,814 - 12,941,908UniSTSGRCh37
Build 361912,802,814 - 12,802,908RGDNCBI36
Celera1912,831,521 - 12,831,613RGD
Cytogenetic Map19p12UniSTS
HuRef1912,513,454 - 12,513,550UniSTS
Marshfield Genetic Map1936.22RGD
Marshfield Genetic Map1936.22UniSTS
Genethon Genetic Map1935.4UniSTS
RH99147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371912,936,320 - 12,936,469UniSTSGRCh37
Build 361912,797,320 - 12,797,469RGDNCBI36
Celera1912,826,027 - 12,826,176RGD
Cytogenetic Map19p12UniSTS
HuRef1912,507,960 - 12,508,109UniSTS
GeneMap99-GB4 RH Map1971.17UniSTS
G42185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371912,936,342 - 12,936,442UniSTSGRCh37
Build 361912,797,342 - 12,797,442RGDNCBI36
Celera1912,826,049 - 12,826,149RGD
Cytogenetic Map19p12UniSTS
HuRef1912,507,982 - 12,508,082UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5342
Count of miRNA genes:854
Interacting mature miRNAs:1012
Transcripts:ENST00000322912, ENST00000393233, ENST00000458671, ENST00000585384, ENST00000586969, ENST00000587549, ENST00000589272, ENST00000589567, ENST00000589681, ENST00000589808, ENST00000590404, ENST00000591512, ENST00000592204
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
High
Medium 3 176 1 7 1 183 2 6 29
Low 368 1 197 30 99 33 212 46 1961 26 491 123 2 1 1 3 1
Below cutoff 1895 1332 731 237 774 138 2181 1189 1257 167 536 884 107 565 1423 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001080997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB593122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY028917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM688006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM688127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM708463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ639040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU689643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB140693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB106146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EL946853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000322912   ⟹   ENSP00000326253
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,825,482 - 12,835,416 (-)Ensembl
RefSeq Acc Id: ENST00000393233   ⟹   ENSP00000376925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,825,478 - 12,830,675 (-)Ensembl
RefSeq Acc Id: ENST00000458671   ⟹   ENSP00000416375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,825,483 - 12,830,416 (-)Ensembl
RefSeq Acc Id: ENST00000585384   ⟹   ENSP00000466855
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,826,790 - 12,830,663 (-)Ensembl
RefSeq Acc Id: ENST00000586969   ⟹   ENSP00000464869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,825,754 - 12,830,655 (-)Ensembl
RefSeq Acc Id: ENST00000587549   ⟹   ENSP00000468769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,828,953 - 12,835,415 (-)Ensembl
RefSeq Acc Id: ENST00000589272   ⟹   ENSP00000468697
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,825,479 - 12,835,428 (-)Ensembl
RefSeq Acc Id: ENST00000589567   ⟹   ENSP00000466805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,826,846 - 12,830,349 (-)Ensembl
RefSeq Acc Id: ENST00000589681   ⟹   ENSP00000466382
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,825,798 - 12,830,662 (-)Ensembl
RefSeq Acc Id: ENST00000589808   ⟹   ENSP00000465796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,825,837 - 12,830,675 (-)Ensembl
RefSeq Acc Id: ENST00000590404   ⟹   ENSP00000467888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,825,842 - 12,834,548 (-)Ensembl
RefSeq Acc Id: ENST00000591512   ⟹   ENSP00000468552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,828,893 - 12,835,415 (-)Ensembl
RefSeq Acc Id: ENST00000592204   ⟹   ENSP00000466765
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,825,478 - 12,834,576 (-)Ensembl
RefSeq Acc Id: ENST00000674343   ⟹   ENSP00000501410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,825,478 - 12,834,576 (-)Ensembl
RefSeq Acc Id: NM_001080997   ⟹   NP_001074466
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,825,482 - 12,830,428 (-)NCBI
GRCh371912,936,291 - 12,946,242 (-)NCBI
Build 361912,797,297 - 12,802,207 (-)NCBI Archive
Celera1912,826,003 - 12,835,935 (-)RGD
HuRef1912,507,931 - 12,517,838 (-)NCBI
CHM1_11912,936,788 - 12,941,726 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001270440   ⟹   NP_001257369
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,825,482 - 12,835,428 (-)NCBI
GRCh371912,936,291 - 12,946,242 (-)NCBI
HuRef1912,507,931 - 12,517,838 (-)NCBI
CHM1_11912,936,788 - 12,946,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001270441   ⟹   NP_001257370
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,825,482 - 12,834,579 (-)NCBI
GRCh371912,936,291 - 12,946,242 (-)NCBI
HuRef1912,507,931 - 12,517,838 (-)NCBI
CHM1_11912,936,788 - 12,945,897 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001270442   ⟹   NP_001257371
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,825,482 - 12,834,579 (-)NCBI
GRCh371912,936,291 - 12,946,242 (-)NCBI
HuRef1912,507,931 - 12,517,838 (-)NCBI
CHM1_11912,936,788 - 12,945,897 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001270443   ⟹   NP_001257372
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,825,482 - 12,830,679 (-)NCBI
GRCh371912,936,291 - 12,946,242 (-)NCBI
HuRef1912,507,931 - 12,517,838 (-)NCBI
CHM1_11912,936,788 - 12,941,985 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001270444   ⟹   NP_001257373
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,825,482 - 12,830,679 (-)NCBI
GRCh371912,936,291 - 12,946,242 (-)NCBI
HuRef1912,507,931 - 12,517,838 (-)NCBI
CHM1_11912,936,788 - 12,941,985 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001270445   ⟹   NP_001257374
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,825,482 - 12,830,679 (-)NCBI
GRCh371912,936,291 - 12,946,242 (-)NCBI
HuRef1912,507,931 - 12,517,838 (-)NCBI
CHM1_11912,936,788 - 12,941,985 (-)NCBI
Sequence:
RefSeq Acc Id: NM_031429   ⟹   NP_113617
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,825,482 - 12,835,428 (-)NCBI
GRCh371912,936,291 - 12,946,242 (-)NCBI
Build 361912,797,296 - 12,807,230 (-)NCBI Archive
Celera1912,826,003 - 12,835,935 (-)RGD
HuRef1912,507,931 - 12,517,838 (-)NCBI
CHM1_11912,936,788 - 12,946,749 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_113617   ⟸   NM_031429
- Peptide Label: isoform 2
- UniProtKB: Q9BSG5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001074466   ⟸   NM_001080997
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9BSG5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257369   ⟸   NM_001270440
- Peptide Label: isoform 3
- UniProtKB: K7ESG0 (UniProtKB/TrEMBL),   Q8N210 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257371   ⟸   NM_001270442
- Peptide Label: isoform 5 precursor
- UniProtKB: Q9BSG5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257370   ⟸   NM_001270441
- Peptide Label: isoform 1 precursor
- Sequence:
RefSeq Acc Id: NP_001257373   ⟸   NM_001270444
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9BSG5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257374   ⟸   NM_001270445
- Peptide Label: isoform 6 precursor
- UniProtKB: Q9BSG5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257372   ⟸   NM_001270443
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9BSG5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000501410   ⟸   ENST00000674343
RefSeq Acc Id: ENSP00000466855   ⟸   ENST00000585384
RefSeq Acc Id: ENSP00000464869   ⟸   ENST00000586969
RefSeq Acc Id: ENSP00000326253   ⟸   ENST00000322912
RefSeq Acc Id: ENSP00000468769   ⟸   ENST00000587549
RefSeq Acc Id: ENSP00000468697   ⟸   ENST00000589272
RefSeq Acc Id: ENSP00000465796   ⟸   ENST00000589808
RefSeq Acc Id: ENSP00000466382   ⟸   ENST00000589681
RefSeq Acc Id: ENSP00000466805   ⟸   ENST00000589567
RefSeq Acc Id: ENSP00000416375   ⟸   ENST00000458671
RefSeq Acc Id: ENSP00000376925   ⟸   ENST00000393233
RefSeq Acc Id: ENSP00000467888   ⟸   ENST00000590404
RefSeq Acc Id: ENSP00000468552   ⟸   ENST00000591512
RefSeq Acc Id: ENSP00000466765   ⟸   ENST00000592204
Protein Domains
Folate_rec

Promoters
RGD ID:7238729
Promoter ID:EPDNEW_H25110
Type:initiation region
Name:RTBDN_4
Description:retbindin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25111  EPDNEW_H25113  EPDNEW_H25114  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,830,319 - 12,830,379EPDNEW
RGD ID:7238731
Promoter ID:EPDNEW_H25111
Type:initiation region
Name:RTBDN_3
Description:retbindin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25110  EPDNEW_H25113  EPDNEW_H25114  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,830,679 - 12,830,739EPDNEW
RGD ID:7238735
Promoter ID:EPDNEW_H25113
Type:initiation region
Name:RTBDN_2
Description:retbindin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25110  EPDNEW_H25111  EPDNEW_H25114  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,834,576 - 12,834,636EPDNEW
RGD ID:7238737
Promoter ID:EPDNEW_H25114
Type:initiation region
Name:RTBDN_1
Description:retbindin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25110  EPDNEW_H25111  EPDNEW_H25113  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,835,428 - 12,835,488EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13
likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 copy number gain See cases [RCV000052910] Chr19:12132052..14751798 [GRCh38]
Chr19:12242867..14862610 [GRCh37]
Chr19:12103867..14723610 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3 copy number gain See cases [RCV000054144] Chr19:12813597..13119698 [GRCh38]
Chr19:12924411..13230512 [GRCh37]
Chr19:12785411..13091512 [NCBI36]
Chr19:19p13.13
uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 copy number loss See cases [RCV000053945] Chr19:11517825..13225287 [GRCh38]
Chr19:11628640..13336101 [GRCh37]
Chr19:11489640..13197101 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 copy number loss See cases [RCV000135937] Chr19:12580427..14742673 [GRCh38]
Chr19:12691241..14853485 [GRCh37]
Chr19:12552241..14714485 [NCBI36]
Chr19:19p13.2-13.12
pathogenic|likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1 copy number loss See cases [RCV000449161] Chr19:12204632..13497073 [GRCh37]
Chr19:19p13.2
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 copy number loss See cases [RCV000511130] Chr19:12574343..14726197 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 copy number gain See cases [RCV000511013] Chr19:11608072..14543046 [GRCh37]
Chr19:19p13.2-13.12
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_031429.2(RTBDN):c.153C>T (p.Thr51=) single nucleotide variant not provided [RCV000947922] Chr19:12829923 [GRCh38]
Chr19:12940737 [GRCh37]
Chr19:19p13.13
benign
GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 copy number loss not provided [RCV000846538] Chr19:12354642..13424014 [GRCh37]
Chr19:19p13.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30310 AgrOrtholog
COSMIC RTBDN COSMIC
Ensembl Genes ENSG00000132026 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000326253 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376925 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000416375 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000464869 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000465796 UniProtKB/TrEMBL
  ENSP00000466382 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000466765 UniProtKB/Swiss-Prot
  ENSP00000466805 UniProtKB/TrEMBL
  ENSP00000466855 UniProtKB/TrEMBL
  ENSP00000467888 UniProtKB/TrEMBL
  ENSP00000468552 UniProtKB/TrEMBL
  ENSP00000468697 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000468769 UniProtKB/TrEMBL
  ENSP00000501410 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000322912 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393233 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000458671 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000585384 UniProtKB/TrEMBL
  ENST00000586969 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000587549 UniProtKB/TrEMBL
  ENST00000589272 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000589567 UniProtKB/TrEMBL
  ENST00000589681 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000589808 UniProtKB/TrEMBL
  ENST00000590404 UniProtKB/TrEMBL
  ENST00000591512 UniProtKB/TrEMBL
  ENST00000592204 UniProtKB/Swiss-Prot
  ENST00000674343 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000132026 GTEx
HGNC ID HGNC:30310 ENTREZGENE
Human Proteome Map RTBDN Human Proteome Map
InterPro Folate_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Folate_rcpt-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83546 UniProtKB/Swiss-Prot
NCBI Gene 83546 ENTREZGENE
OMIM 609553 OMIM
PANTHER PTHR10517 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Folate_rec UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA144596387 PharmGKB
UniGene Hs.21162 ENTREZGENE
UniProt K7EIS2_HUMAN UniProtKB/TrEMBL
  K7EKV3_HUMAN UniProtKB/TrEMBL
  K7EM70_HUMAN UniProtKB/TrEMBL
  K7EN64_HUMAN UniProtKB/TrEMBL
  K7ENA4_HUMAN UniProtKB/TrEMBL
  K7EQL9_HUMAN UniProtKB/TrEMBL
  K7ES48_HUMAN UniProtKB/TrEMBL
  K7ESG0 ENTREZGENE, UniProtKB/TrEMBL
  K7ESL8_HUMAN UniProtKB/TrEMBL
  Q8N210 ENTREZGENE, UniProtKB/TrEMBL
  Q9BSG5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary F1T0I8 UniProtKB/Swiss-Prot
  Q9BWT5 UniProtKB/Swiss-Prot