TBX18 (T-box transcription factor 18) - Rat Genome Database

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Gene: TBX18 (T-box transcription factor 18) Homo sapiens
Analyze
Symbol: TBX18
Name: T-box transcription factor 18
RGD ID: 1350500
HGNC Page HGNC:11595
Description: Enables sequence-specific double-stranded DNA binding activity. Involved in sinoatrial node cell development; sinoatrial node cell fate commitment; and ureter development. Located in nucleoplasm. Implicated in CAKUT2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CAKUT2; T-box 18; T-box protein 18; T-box transcription factor TBX18
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
GRCh38684,732,496 - 84,764,598 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl684,687,351 - 84,764,598 (-)EnsemblGRCh38hg38GRCh38
GRCh37685,442,214 - 85,474,316 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36685,500,876 - 85,530,618 (-)NCBINCBI36Build 36hg18NCBI36
Build 34685,510,715 - 85,529,036NCBI
Celera685,871,383 - 85,901,128 (-)NCBICelera
Cytogenetic Map6q14.3NCBI
HuRef682,665,241 - 82,696,981 (-)NCBIHuRef
CHM1_1685,539,567 - 85,571,307 (-)NCBICHM1_1
T2T-CHM13v2.0685,949,735 - 85,981,843 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure formation involved in morphogenesis  (ISO)
anterior/posterior axis specification  (ISO)
cell differentiation  (ISO)
cell fate specification  (IBA)
cochlea morphogenesis  (ISS)
epithelial cell proliferation  (ISO)
mesenchymal cell proliferation  (ISO)
mesenchymal cell proliferation involved in ureter development  (ISO)
morphogenesis of embryonic epithelium  (IBA,ISO)
myoblast proliferation  (ISO)
negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation  (ISS)
negative regulation of transcription by RNA polymerase II  (IEA)
positive regulation of cell-cell adhesion  (ISO)
positive regulation of DNA-templated transcription  (IEA)
positive regulation of epithelial cell proliferation  (ISO)
positive regulation of mesenchymal cell proliferation  (ISO)
positive regulation of mesenchymal cell proliferation involved in ureter development  (ISO)
positive regulation of myoblast proliferation  (ISO)
positive regulation of stem cell proliferation  (ISO)
regulation of DNA-templated transcription  (IEA)
regulation of SA node cell action potential  (IMP)
regulation of transcription by RNA polymerase II  (IBA)
sensory perception of sound  (ISO)
sinoatrial node cell development  (IMP)
sinoatrial node cell fate commitment  (IMP)
sinoatrial node development  (ISS)
smooth muscle cell differentiation  (ISS)
somitogenesis  (IBA,ISS)
stem cell differentiation  (ISO)
stem cell proliferation  (ISO)
ureter development  (IMP,ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9888994   PMID:12477932   PMID:14574404   PMID:16688725   PMID:17584735   PMID:19213963   PMID:19274049   PMID:21205823   PMID:21873635   PMID:23242162   PMID:23749171   PMID:25364816  
PMID:26235987   PMID:27381532   PMID:27632938   PMID:28473536   PMID:28794400   PMID:30071041   PMID:30078203   PMID:30983202   PMID:32296183   PMID:33961781   PMID:34882885   PMID:36418409  
PMID:36543116  


Genomics

Comparative Map Data
TBX18
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38684,732,496 - 84,764,598 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl684,687,351 - 84,764,598 (-)EnsemblGRCh38hg38GRCh38
GRCh37685,442,214 - 85,474,316 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36685,500,876 - 85,530,618 (-)NCBINCBI36Build 36hg18NCBI36
Build 34685,510,715 - 85,529,036NCBI
Celera685,871,383 - 85,901,128 (-)NCBICelera
Cytogenetic Map6q14.3NCBI
HuRef682,665,241 - 82,696,981 (-)NCBIHuRef
CHM1_1685,539,567 - 85,571,307 (-)NCBICHM1_1
T2T-CHM13v2.0685,949,735 - 85,981,843 (-)NCBIT2T-CHM13v2.0
Tbx18
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39987,584,853 - 87,613,313 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl987,584,853 - 87,613,313 (-)EnsemblGRCm39 Ensembl
GRCm38987,702,800 - 87,731,260 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl987,702,800 - 87,731,260 (-)EnsemblGRCm38mm10GRCm38
MGSCv37987,597,635 - 87,626,095 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36987,502,145 - 87,529,206 (-)NCBIMGSCv36mm8
Celera984,762,550 - 84,791,101 (-)NCBICelera
Cytogenetic Map9E3.1NCBI
cM Map947.06NCBI
Tbx18
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2888,652,054 - 88,680,081 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl888,652,054 - 88,680,058 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx894,313,052 - 94,341,076 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0892,512,256 - 92,540,280 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0890,358,693 - 90,386,745 (-)NCBIRnor_WKY
Rnor_6.0895,359,354 - 95,387,363 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl895,359,354 - 95,387,363 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0894,860,116 - 94,888,125 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4892,984,336 - 93,012,343 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1892,982,189 - 93,031,958 (-)NCBI
Celera888,229,534 - 88,257,537 (-)NCBICelera
Cytogenetic Map8q31NCBI
Tbx18
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541112,194,550 - 12,232,374 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541112,194,560 - 12,232,374 (-)NCBIChiLan1.0ChiLan1.0
TBX18
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1685,906,500 - 85,938,356 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl685,862,810 - 85,938,799 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0682,621,987 - 82,654,137 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
TBX18
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11244,901,076 - 44,929,730 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1244,873,119 - 44,929,205 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1244,715,143 - 44,743,697 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01245,667,650 - 45,696,229 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1245,642,129 - 45,695,798 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11245,001,870 - 45,030,386 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01244,937,063 - 44,965,596 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01245,119,019 - 45,147,578 (-)NCBIUU_Cfam_GSD_1.0
Tbx18
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494680,074,742 - 80,104,499 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365106,366,846 - 6,393,882 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365106,366,450 - 6,396,056 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBX18
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl153,838,189 - 53,867,254 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1153,836,939 - 53,867,460 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2160,192,672 - 60,223,150 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TBX18
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1139,407,384 - 9,441,157 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl139,411,004 - 9,439,642 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040185,588,730 - 185,620,701 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tbx18
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247999,694,374 - 9,719,385 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247999,694,167 - 9,721,468 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TBX18
48 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001080508.3(TBX18):c.464T>C (p.Ile155Thr) single nucleotide variant not provided [RCV000723214] Chr6:84762577 [GRCh38]
Chr6:85472295 [GRCh37]
Chr6:6q14.3		 uncertain significance
GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1 copy number loss See cases [RCV000052192] Chr6:82569098..93753476 [GRCh38]
Chr6:83278815..94463194 [GRCh37]
Chr6:83335534..94519915 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
GRCh38/hg38 6q14.3(chr6:84511090-85008210)x1 copy number loss See cases [RCV000052618] Chr6:84511090..85008210 [GRCh38]
Chr6:85220808..85717928 [GRCh37]
Chr6:85277527..85774647 [NCBI36]
Chr6:6q14.3		 uncertain significance
NM_001080508.2(TBX18):c.1696C>T (p.Arg566Trp) single nucleotide variant Malignant melanoma [RCV000067486] Chr6:84736813 [GRCh38]
Chr6:85446531 [GRCh37]
Chr6:85503250 [NCBI36]
Chr6:6q14.3		 not provided
NM_001080508.2(TBX18):c.838G>A (p.Asp280Asn) single nucleotide variant Malignant melanoma [RCV000067487] Chr6:84748021 [GRCh38]
Chr6:85457739 [GRCh37]
Chr6:85514458 [NCBI36]
Chr6:6q14.3		 not provided
NM_001080508.2(TBX18):c.939+432G>T single nucleotide variant Lung cancer [RCV000097229] Chr6:84747488 [GRCh38]
Chr6:85457206 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.1010del (p.Gly337fs) deletion Congenital anomalies of kidney and urinary tract 2 [RCV000190534]|Congenital anomaly of kidney and urinary tract [RCV001849334] Chr6:84738586 [GRCh38]
Chr6:85448304 [GRCh37]
Chr6:6q14.3		 pathogenic|likely pathogenic
NM_001080508.3(TBX18):c.1570C>T (p.His524Tyr) single nucleotide variant Congenital anomalies of kidney and urinary tract 2 [RCV000190535] Chr6:84736939 [GRCh38]
Chr6:85446657 [GRCh37]
Chr6:6q14.3		 pathogenic
NM_001080508.3(TBX18):c.487A>G (p.Lys163Glu) single nucleotide variant Congenital anomalies of kidney and urinary tract 2 [RCV000190536] Chr6:84762554 [GRCh38]
Chr6:85472272 [GRCh37]
Chr6:6q14.3		 pathogenic
GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1 copy number loss See cases [RCV000135773] Chr6:83838303..98822313 [GRCh38]
Chr6:84548022..99270189 [GRCh37]
Chr6:84604741..99376910 [NCBI36]
Chr6:6q14.2-16.1		 pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 copy number loss See cases [RCV000143505] Chr6:75926199..92710793 [GRCh38]
Chr6:76635916..93420511 [GRCh37]
Chr6:76692636..93477232 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
NM_001080508.3(TBX18):c.1285C>T (p.Arg429Ter) single nucleotide variant not provided [RCV000362788] Chr6:84737224 [GRCh38]
Chr6:85446942 [GRCh37]
Chr6:6q14.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001080508.3(TBX18):c.947G>A (p.Arg316His) single nucleotide variant not provided [RCV000489193] Chr6:84744318 [GRCh38]
Chr6:85454036 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.1477del (p.Ser493fs) deletion not provided [RCV000599591] Chr6:84737032 [GRCh38]
Chr6:85446750 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.170GCG[3] (p.Gly60del) microsatellite not provided [RCV000722260] Chr6:84764001..84764003 [GRCh38]
Chr6:85473719..85473721 [GRCh37]
Chr6:6q14.3		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 copy number gain not provided [RCV000682688] Chr6:81261418..97796269 [GRCh37]
Chr6:6q14.1-16.1		 pathogenic
Single allele deletion not provided [RCV000677932] Chr6:83319012..91907669 [GRCh37]
Chr6:6q14.1-15		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_001080508.3(TBX18):c.692_693insT (p.Glu233fs) insertion Congenital anomalies of kidney and urinary tract 2 [RCV001533182] Chr6:84756776..84756777 [GRCh38]
Chr6:85466494..85466495 [GRCh37]
Chr6:6q14.3		 pathogenic
NM_001080508.3(TBX18):c.771+130T>G single nucleotide variant not provided [RCV001534786] Chr6:84756568 [GRCh38]
Chr6:85466286 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.1004+197G>A single nucleotide variant not provided [RCV001692501] Chr6:84744064 [GRCh38]
Chr6:85453782 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.1265G>A (p.Arg422His) single nucleotide variant not provided [RCV000905516] Chr6:84737244 [GRCh38]
Chr6:85446962 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.1677G>A (p.Pro559=) single nucleotide variant not provided [RCV000902738] Chr6:84736832 [GRCh38]
Chr6:85446550 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.1308G>A (p.Glu436=) single nucleotide variant not provided [RCV000924696] Chr6:84737201 [GRCh38]
Chr6:85446919 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.63G>C (p.Ser21=) single nucleotide variant not provided [RCV000925718] Chr6:84764119 [GRCh38]
Chr6:85473837 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.750T>C (p.Asn250=) single nucleotide variant not provided [RCV000943241] Chr6:84756719 [GRCh38]
Chr6:85466437 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.141G>C (p.Ala47=) single nucleotide variant not provided [RCV000943757] Chr6:84764041 [GRCh38]
Chr6:85473759 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.1102A>C (p.Asn368His) single nucleotide variant not provided [RCV000884628] Chr6:84737407 [GRCh38]
Chr6:85447125 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.868G>A (p.Gly290Arg) single nucleotide variant Congenital anomalies of kidney and urinary tract 2 [RCV002501405]|not provided [RCV000883784] Chr6:84747991 [GRCh38]
Chr6:85457709 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.207A>C (p.Gly69=) single nucleotide variant not provided [RCV000894824] Chr6:84763975 [GRCh38]
Chr6:85473693 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.1118C>T (p.Thr373Ile) single nucleotide variant not provided [RCV000905723] Chr6:84737391 [GRCh38]
Chr6:85447109 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.1470G>A (p.Ser490=) single nucleotide variant not provided [RCV000897920] Chr6:84737039 [GRCh38]
Chr6:85446757 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.336G>T (p.Ala112=) single nucleotide variant not provided [RCV000896240] Chr6:84762705 [GRCh38]
Chr6:85472423 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.267C>T (p.Gly89=) single nucleotide variant not provided [RCV000909186] Chr6:84763915 [GRCh38]
Chr6:85473633 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.142G>A (p.Gly48Arg) single nucleotide variant Congenital anomalies of kidney and urinary tract 2 [RCV000987748]|not provided [RCV001540843] Chr6:84764040 [GRCh38]
Chr6:85473758 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.788T>C (p.Met263Thr) single nucleotide variant not provided [RCV003126999] Chr6:84748071 [GRCh38]
Chr6:85457789 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.1004+214C>G single nucleotide variant not provided [RCV001654151] Chr6:84744047 [GRCh38]
Chr6:85453765 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.1099+112G>A single nucleotide variant not provided [RCV001595485] Chr6:84738385 [GRCh38]
Chr6:85448103 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.244_255dup (p.Thr82_Pro85dup) duplication not provided [RCV000953514] Chr6:84763926..84763927 [GRCh38]
Chr6:85473644..85473645 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.492C>T (p.Ala164=) single nucleotide variant not provided [RCV000906147] Chr6:84762549 [GRCh38]
Chr6:85472267 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.1368C>T (p.Ser456=) single nucleotide variant not provided [RCV000910282] Chr6:84737141 [GRCh38]
Chr6:85446859 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.1479C>T (p.Ser493=) single nucleotide variant not provided [RCV000921493] Chr6:84737030 [GRCh38]
Chr6:85446748 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.128C>T (p.Ala43Val) single nucleotide variant not provided [RCV000912956] Chr6:84764054 [GRCh38]
Chr6:85473772 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.498-26C>G single nucleotide variant not provided [RCV001597394] Chr6:84760382 [GRCh38]
Chr6:85470100 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.939+256_939+257insATG insertion not provided [RCV001598757] Chr6:84747663..84747664 [GRCh38]
Chr6:85457381..85457382 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.574G>T (p.Val192Leu) single nucleotide variant Chronic kidney disease [RCV001171344]|not provided [RCV002558715] Chr6:84760280 [GRCh38]
Chr6:85469998 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.599+172G>A single nucleotide variant not provided [RCV001610253] Chr6:84760083 [GRCh38]
Chr6:85469801 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.1004+75dup duplication not provided [RCV001648667] Chr6:84744185..84744186 [GRCh38]
Chr6:85453903..85453904 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.498-50A>T single nucleotide variant not provided [RCV001666668] Chr6:84760406 [GRCh38]
Chr6:85470124 [GRCh37]
Chr6:6q14.3		 benign
GRCh37/hg19 6q14.3(chr6:85220808-85517846)x3 copy number gain Anophthalmia [RCV001004819] Chr6:85220808..85517846 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.272A>C (p.Asp91Ala) single nucleotide variant Congenital anomalies of kidney and urinary tract 2 [RCV001376137] Chr6:84763910 [GRCh38]
Chr6:85473628 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.940-228G>C single nucleotide variant not provided [RCV001710928] Chr6:84744553 [GRCh38]
Chr6:85454271 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.1005-256T>C single nucleotide variant not provided [RCV001612279] Chr6:84738847 [GRCh38]
Chr6:85448565 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.181G>A (p.Ala61Thr) single nucleotide variant not provided [RCV001772941] Chr6:84764001 [GRCh38]
Chr6:85473719 [GRCh37]
Chr6:6q14.3		 uncertain significance
GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1 copy number loss not provided [RCV001829074] Chr6:83141523..88023466 [GRCh37]
Chr6:6q14.1-15		 pathogenic
NM_001080508.3(TBX18):c.1661T>C (p.Phe554Ser) single nucleotide variant not provided [RCV001984793] Chr6:84736848 [GRCh38]
Chr6:85446566 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.1802A>G (p.Gln601Arg) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001849614] Chr6:84736707 [GRCh38]
Chr6:85446425 [GRCh37]
Chr6:6q14.3		 likely pathogenic
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) copy number gain not specified [RCV002053581] Chr6:69938252..94379210 [GRCh37]
Chr6:6q12-16.1		 pathogenic
NM_001080508.3(TBX18):c.1483C>A (p.Gln495Lys) single nucleotide variant not provided [RCV001945832] Chr6:84737026 [GRCh38]
Chr6:85446744 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.299_310del (p.Cys100_Gly103del) deletion not provided [RCV001989747] Chr6:84762731..84762742 [GRCh38]
Chr6:85472449..85472460 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.1387A>G (p.Ser463Gly) single nucleotide variant not provided [RCV001980022] Chr6:84737122 [GRCh38]
Chr6:85446840 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.658C>A (p.Pro220Thr) single nucleotide variant Inborn genetic diseases [RCV002553665]|not provided [RCV001901201] Chr6:84756811 [GRCh38]
Chr6:85466529 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.1289A>G (p.Tyr430Cys) single nucleotide variant not provided [RCV002223631] Chr6:84737220 [GRCh38]
Chr6:85446938 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.121C>T (p.Leu41=) single nucleotide variant not provided [RCV002155924] Chr6:84764061 [GRCh38]
Chr6:85473779 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.600-20G>C single nucleotide variant not provided [RCV002202172] Chr6:84756889 [GRCh38]
Chr6:85466607 [GRCh37]
Chr6:6q14.3		 benign
NC_000006.11:g.(?_84765038)_(86267798_?)del deletion not provided [RCV003123071] Chr6:84765038..86267798 [GRCh37]
Chr6:6q14.2-14.3		 uncertain significance
NM_001080508.3(TBX18):c.1319G>C (p.Arg440Thr) single nucleotide variant See cases [RCV002252882] Chr6:84737190 [GRCh38]
Chr6:85446908 [GRCh37]
Chr6:6q14.3		 uncertain significance
GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1 copy number loss See cases [RCV002292710] Chr6:78911022..98909173 [GRCh37]
Chr6:6q14.1-16.1		 uncertain significance
NM_001080508.3(TBX18):c.662G>A (p.Arg221His) single nucleotide variant Congenital anomalies of kidney and urinary tract 2 [RCV002282749] Chr6:84756807 [GRCh38]
Chr6:85466525 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.1150G>T (p.Ala384Ser) single nucleotide variant Inborn genetic diseases [RCV002840287] Chr6:84737359 [GRCh38]
Chr6:85447077 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.186C>T (p.Gly62_Glu63=) single nucleotide variant not provided [RCV002843852] Chr6:84763996 [GRCh38]
Chr6:85473714 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.1143C>T (p.Gly381_Val382=) single nucleotide variant not provided [RCV003097633] Chr6:84737366 [GRCh38]
Chr6:85447084 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.1004+12T>C single nucleotide variant not provided [RCV002816204] Chr6:84744249 [GRCh38]
Chr6:85453967 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.1526C>T (p.Ala509Val) single nucleotide variant Inborn genetic diseases [RCV002970456] Chr6:84736983 [GRCh38]
Chr6:85446701 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.220G>C (p.Ala74Pro) single nucleotide variant not provided [RCV002858726] Chr6:84763962 [GRCh38]
Chr6:85473680 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.637A>C (p.Asn213His) single nucleotide variant not provided [RCV002462414] Chr6:84756832 [GRCh38]
Chr6:85466550 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.205G>A (p.Gly69Arg) single nucleotide variant not provided [RCV002615399] Chr6:84763977 [GRCh38]
Chr6:85473695 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.497+17C>G single nucleotide variant not provided [RCV002781540] Chr6:84762527 [GRCh38]
Chr6:85472245 [GRCh37]
Chr6:6q14.3		 benign
NM_001080508.3(TBX18):c.178G>A (p.Gly60Ser) single nucleotide variant not provided [RCV002909717] Chr6:84764004 [GRCh38]
Chr6:85473722 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.939+4T>C single nucleotide variant not provided [RCV002979448] Chr6:84747916 [GRCh38]
Chr6:85457634 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.726C>G (p.Phe242Leu) single nucleotide variant not provided [RCV002781500] Chr6:84756743 [GRCh38]
Chr6:85466461 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.368C>A (p.Ala123Glu) single nucleotide variant not provided [RCV003037893] Chr6:84762673 [GRCh38]
Chr6:85472391 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.1593A>T (p.Gly531_Tyr532=) single nucleotide variant not provided [RCV002927160] Chr6:84736916 [GRCh38]
Chr6:85446634 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.78C>T (p.Ile26_Gly27=) single nucleotide variant not provided [RCV002913166] Chr6:84764104 [GRCh38]
Chr6:85473822 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.1046G>A (p.Arg349Gln) single nucleotide variant Inborn genetic diseases [RCV003082715]|not provided [RCV003100431] Chr6:84738550 [GRCh38]
Chr6:85448268 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.1390A>C (p.Thr464Pro) single nucleotide variant not provided [RCV002932727] Chr6:84737119 [GRCh38]
Chr6:85446837 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.500G>A (p.Arg167His) single nucleotide variant not provided [RCV003007643] Chr6:84760354 [GRCh38]
Chr6:85470072 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.836A>G (p.Asp279Gly) single nucleotide variant not provided [RCV002933345] Chr6:84748023 [GRCh38]
Chr6:85457741 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.1578C>A (p.Pro526_Cys527=) single nucleotide variant not provided [RCV002643624] Chr6:84736931 [GRCh38]
Chr6:85446649 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.1208G>C (p.Gly403Ala) single nucleotide variant Inborn genetic diseases [RCV002916196] Chr6:84737301 [GRCh38]
Chr6:85447019 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.122T>C (p.Leu41Pro) single nucleotide variant Inborn genetic diseases [RCV002827288] Chr6:84764060 [GRCh38]
Chr6:85473778 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.467G>T (p.Gly156Val) single nucleotide variant Inborn genetic diseases [RCV002697768] Chr6:84762574 [GRCh38]
Chr6:85472292 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.1813C>T (p.His605Tyr) single nucleotide variant not provided [RCV003005021] Chr6:84736696 [GRCh38]
Chr6:85446414 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.1103A>G (p.Asn368Ser) single nucleotide variant not provided [RCV002938798] Chr6:84737406 [GRCh38]
Chr6:85447124 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.1741G>T (p.Gly581Trp) single nucleotide variant not provided [RCV003065088] Chr6:84736768 [GRCh38]
Chr6:85446486 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.1243G>A (p.Ala415Thr) single nucleotide variant Inborn genetic diseases [RCV002719590] Chr6:84737266 [GRCh38]
Chr6:85446984 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.348C>A (p.Gly116_Ser117=) single nucleotide variant not provided [RCV002922523] Chr6:84762693 [GRCh38]
Chr6:85472411 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.738G>A (p.Lys246_Leu247=) single nucleotide variant not provided [RCV002806050] Chr6:84756731 [GRCh38]
Chr6:85466449 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.376C>T (p.Leu126_Ala127=) single nucleotide variant not provided [RCV002676374] Chr6:84762665 [GRCh38]
Chr6:85472383 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.1816A>G (p.Met606Val) single nucleotide variant Inborn genetic diseases [RCV002921755] Chr6:84736693 [GRCh38]
Chr6:85446411 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.217G>A (p.Ala73Thr) single nucleotide variant Inborn genetic diseases [RCV002944889] Chr6:84763965 [GRCh38]
Chr6:85473683 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.993C>T (p.Ser331_Gly332=) single nucleotide variant not provided [RCV003069083] Chr6:84744272 [GRCh38]
Chr6:85453990 [GRCh37]
Chr6:6q14.3		 likely benign
NM_001080508.3(TBX18):c.1202A>G (p.His401Arg) single nucleotide variant not provided [RCV002635069] Chr6:84737307 [GRCh38]
Chr6:85447025 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.392C>T (p.Thr131Ile) single nucleotide variant not provided [RCV002585329] Chr6:84762649 [GRCh38]
Chr6:85472367 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_001080508.3(TBX18):c.1558A>G (p.Thr520Ala) single nucleotide variant Inborn genetic diseases [RCV002943165]|not provided [RCV002943166] Chr6:84736951 [GRCh38]
Chr6:85446669 [GRCh37]
Chr6:6q14.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1564
Count of miRNA genes:848
Interacting mature miRNAs:1007
Transcripts:ENST00000369663, ENST00000606325, ENST00000606521, ENST00000606621, ENST00000606784, ENST00000607343
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D6S1627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37685,407,327 - 85,407,434UniSTSGRCh37
Build 36685,464,046 - 85,464,153RGDNCBI36
Celera685,834,562 - 85,834,663RGD
Cytogenetic Map6q14-q15UniSTS
HuRef682,630,358 - 82,630,459UniSTS
Marshfield Genetic Map692.85UniSTS
Marshfield Genetic Map692.85RGD
Genethon Genetic Map693.2UniSTS
deCODE Assembly Map692.94UniSTS
D6S1475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37685,447,330 - 85,447,431UniSTSGRCh37
Build 36685,504,049 - 85,504,150RGDNCBI36
Celera685,874,556 - 85,874,657RGD
Cytogenetic Map6q14-q15UniSTS
HuRef682,670,357 - 82,670,458UniSTS
Whitehead-RH Map6554.0UniSTS
Whitehead-YAC Contig Map6 UniSTS
RH47634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37685,420,661 - 85,420,818UniSTSGRCh37
Build 36685,477,380 - 85,477,537RGDNCBI36
Celera685,847,891 - 85,848,048RGD
Cytogenetic Map6q14-q15UniSTS
HuRef682,643,688 - 82,643,845UniSTS
GeneMap99-GB4 RH Map6370.55UniSTS
RH103106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37685,442,444 - 85,442,538UniSTSGRCh37
Build 36685,499,163 - 85,499,257RGDNCBI36
Celera685,869,670 - 85,869,764RGD
Cytogenetic Map6q14-q15UniSTS
HuRef682,665,471 - 82,665,565UniSTS
GeneMap99-GB4 RH Map6375.33UniSTS


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 10 1345 18 7 6 9 1816 30 612 18 69 64 1 416 1342
Low 1482 834 1132 164 167 27 1981 1751 1766 118 1046 864 142 1 786 1100 4 1
Below cutoff 837 574 480 371 905 346 459 403 1305 212 264 560 28 2 346 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001080508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ010278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC157841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000330469
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl684,687,351 - 84,688,747 (-)Ensembl
RefSeq Acc Id: ENST00000369663   ⟹   ENSP00000358677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl684,732,496 - 84,764,598 (-)Ensembl
RefSeq Acc Id: ENST00000606325   ⟹   ENSP00000475498
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl684,744,261 - 84,763,453 (-)Ensembl
RefSeq Acc Id: ENST00000606521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl684,742,024 - 84,763,448 (-)Ensembl
RefSeq Acc Id: ENST00000606621   ⟹   ENSP00000476137
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl684,760,283 - 84,763,355 (-)Ensembl
RefSeq Acc Id: ENST00000606784   ⟹   ENSP00000475873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl684,687,373 - 84,763,453 (-)Ensembl
RefSeq Acc Id: ENST00000607343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl684,741,067 - 84,741,802 (-)Ensembl
RefSeq Acc Id: NM_001080508   ⟹   NP_001073977
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38684,732,496 - 84,764,598 (-)NCBI
GRCh37685,442,214 - 85,473,954 (-)NCBI
Build 36685,500,876 - 85,530,618 (-)NCBI Archive
Celera685,871,383 - 85,901,128 (-)RGD
HuRef682,665,241 - 82,696,981 (-)NCBI
CHM1_1685,539,567 - 85,571,307 (-)NCBI
T2T-CHM13v2.0685,949,735 - 85,981,843 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001073977   ⟸   NM_001080508
- UniProtKB: Q9UJI6 (UniProtKB/Swiss-Prot),   O95935 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000358677   ⟸   ENST00000369663
RefSeq Acc Id: ENSP00000475498   ⟸   ENST00000606325
RefSeq Acc Id: ENSP00000475873   ⟸   ENST00000606784
RefSeq Acc Id: ENSP00000476137   ⟸   ENST00000606621
Protein Domains
T-box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95935-F1-model_v2 AlphaFold O95935 1-607 view protein structure

Promoters
RGD ID:7208613
Promoter ID:EPDNEW_H10051
Type:initiation region
Name:TBX18_2
Description:T-box 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10052  EPDNEW_H10053  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38684,763,453 - 84,763,513EPDNEW
RGD ID:7208611
Promoter ID:EPDNEW_H10052
Type:multiple initiation site
Name:TBX18_1
Description:T-box 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10051  EPDNEW_H10053  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38684,764,595 - 84,764,655EPDNEW
RGD ID:6815552
Promoter ID:HG_MRA:13935
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AJ010278
Position:
Human AssemblyChrPosition (strand)Source
Build 36685,529,126 - 85,529,626 (-)MPROMDB
RGD ID:6804844
Promoter ID:HG_KWN:54249
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000041378,   UC010KBQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36685,530,176 - 85,531,127 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11595 AgrOrtholog
COSMIC TBX18 COSMIC
Ensembl Genes ENSG00000112837 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000358677 ENTREZGENE
  ENSP00000358677.4 UniProtKB/Swiss-Prot
  ENSP00000475498.1 UniProtKB/TrEMBL
  ENSP00000475873.1 UniProtKB/TrEMBL
  ENSP00000476137.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000369663 ENTREZGENE
  ENST00000369663.10 UniProtKB/Swiss-Prot
  ENST00000606325.5 UniProtKB/TrEMBL
  ENST00000606621.1 UniProtKB/TrEMBL
  ENST00000606784.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000112837 GTEx
HGNC ID HGNC:11595 ENTREZGENE
Human Proteome Map TBX18 Human Proteome Map
InterPro p53-like_TF_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T-box_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T-box_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_T-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_T-box_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9096 UniProtKB/Swiss-Prot
NCBI Gene 9096 ENTREZGENE
OMIM 143400 OMIM
  604613 OMIM
PANTHER PTHR11267 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T-BOX TRANSCRIPTION FACTOR TBX18 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam T-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36358 PharmGKB
PRINTS TBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TBOX_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBOX_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49417 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt O95935 ENTREZGENE
  Q8IW86_HUMAN UniProtKB/TrEMBL
  Q9UJI6 ENTREZGENE
  TBX18_HUMAN UniProtKB/Swiss-Prot
  U3KQ31_HUMAN UniProtKB/TrEMBL
  U3KQH2_HUMAN UniProtKB/TrEMBL
  U3KQQ9_HUMAN UniProtKB/TrEMBL
UniProt Secondary A2RU13 UniProtKB/Swiss-Prot
  Q7Z6U4 UniProtKB/Swiss-Prot
  Q9UJI6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-06-11 TBX18  T-box transcription factor 18  TBX18  T-box 18  Symbol and/or name change 5135510 APPROVED