UTS2B (urotensin 2B) - Rat Genome Database

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Gene: UTS2B (urotensin 2B) Homo sapiens
Analyze
Symbol: UTS2B
Name: urotensin 2B
RGD ID: 1603529
HGNC Page HGNC:30894
Description: Predicted to enable G protein-coupled receptor binding activity. Predicted to be involved in regulation of blood pressure. Predicted to be located in extracellular region.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: MGC138371; prepro-URP; U-IIB; U2B; UIIB; urotensin 2 domain containing; urotensin II-related peptide; urotensin IIB; urotensin-2 domain-containing protein; urotensin-2B; URP; UTS2D
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383191,267,168 - 191,346,182 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3191,267,168 - 191,330,526 (-)EnsemblGRCh38hg38GRCh38
GRCh373190,984,957 - 191,048,315 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363192,468,042 - 192,482,734 (-)NCBINCBI36Build 36hg18NCBI36
Celera3189,413,735 - 189,477,117 (-)NCBICelera
Cytogenetic Map3q28NCBI
HuRef3188,384,608 - 188,448,037 (-)NCBIHuRef
CHM1_13190,948,509 - 191,011,938 (-)NCBICHM1_1
T2T-CHM13v2.03194,081,889 - 194,166,084 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
schizophrenia  (IAGP)

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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14550283   PMID:14702039   PMID:16344560   PMID:16754659   PMID:16940699   PMID:17327028   PMID:17919235   PMID:18000598   PMID:21116278   PMID:21684671   PMID:21873635  
PMID:24391740   PMID:30021884  


Genomics

Comparative Map Data
UTS2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383191,267,168 - 191,346,182 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3191,267,168 - 191,330,526 (-)EnsemblGRCh38hg38GRCh38
GRCh373190,984,957 - 191,048,315 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363192,468,042 - 192,482,734 (-)NCBINCBI36Build 36hg18NCBI36
Celera3189,413,735 - 189,477,117 (-)NCBICelera
Cytogenetic Map3q28NCBI
HuRef3188,384,608 - 188,448,037 (-)NCBIHuRef
CHM1_13190,948,509 - 191,011,938 (-)NCBICHM1_1
T2T-CHM13v2.03194,081,889 - 194,166,084 (-)NCBIT2T-CHM13v2.0
Uts2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391627,172,072 - 27,188,989 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1627,172,072 - 27,188,989 (-)EnsemblGRCm39 Ensembl
GRCm381627,353,322 - 27,370,239 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1627,353,322 - 27,370,239 (-)EnsemblGRCm38mm10GRCm38
MGSCv371627,353,408 - 27,370,325 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361627,268,555 - 27,285,472 (-)NCBIMGSCv36mm8
Celera1627,892,273 - 27,909,335 (-)NCBICelera
Cytogenetic Map16B2NCBI
cM Map1618.93NCBI
Uts2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81186,929,210 - 86,944,255 (+)NCBIGRCr8
mRatBN7.21173,424,385 - 73,439,429 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1173,424,385 - 73,439,429 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1182,262,847 - 82,278,030 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01174,897,879 - 74,913,060 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01173,928,991 - 73,944,034 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01176,833,761 - 76,848,808 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1176,833,761 - 76,848,808 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01183,876,025 - 83,897,615 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41175,389,855 - 75,424,944 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11175,447,443 - 75,482,533 (+)NCBI
Celera1172,355,765 - 72,370,906 (+)NCBICelera
Cytogenetic Map11q22NCBI
Uts2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542016,947,003 - 17,016,229 (+)NCBIChiLan1.0ChiLan1.0
UTS2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22189,206,356 - 189,270,025 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13189,209,520 - 189,274,745 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03188,559,245 - 188,622,518 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13196,907,239 - 196,970,449 (-)NCBIpanpan1.1PanPan1.1panPan2
UTS2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13423,110,145 - 23,145,025 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3423,079,737 - 23,139,506 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3427,202,880 - 27,262,031 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03423,044,890 - 23,104,340 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3423,044,725 - 23,087,195 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13423,065,319 - 23,124,339 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03423,051,993 - 23,111,284 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03423,294,372 - 23,353,622 (-)NCBIUU_Cfam_GSD_1.0
Uts2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602120,972,253 - 120,990,145 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936900446,668 - 451,841 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UTS2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13128,577,995 - 128,593,392 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113128,577,966 - 128,593,349 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213137,973,571 - 137,989,070 (-)NCBISscrofa10.2Sscrofa10.2susScr3
UTS2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11585,434,709 - 85,449,169 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604159,091,420 - 59,098,338 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Uts2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473065,989,176 - 65,999,667 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UTS2B
31 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29
pathogenic
GRCh38/hg38 3q27.2-28(chr3:186204253-192214251)x1 copy number loss See cases [RCV000051609] Chr3:186204253..192214251 [GRCh38]
Chr3:185922042..191932040 [GRCh37]
Chr3:187404736..193414734 [NCBI36]
Chr3:3q27.2-28
pathogenic
GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1 copy number loss See cases [RCV000051610] Chr3:187446231..195029133 [GRCh38]
Chr3:187164019..194749862 [GRCh37]
Chr3:188646713..196231151 [NCBI36]
Chr3:3q27.3-29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29
pathogenic
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3 copy number gain See cases [RCV000051739] Chr3:189265371..198110178 [GRCh38]
Chr3:188983160..197837049 [GRCh37]
Chr3:190465854..199321446 [NCBI36]
Chr3:3q28-29
pathogenic
GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3 copy number gain See cases [RCV000051740] Chr3:190667663..198110178 [GRCh38]
Chr3:190385452..197837049 [GRCh37]
Chr3:191868146..199321446 [NCBI36]
Chr3:3q28-29
pathogenic
NM_198152.3(UTS2B):c.-125+1630C>A single nucleotide variant Lung cancer [RCV000093400] Chr3:191302862 [GRCh38]
Chr3:191020651 [GRCh37]
Chr3:3q28
uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29
pathogenic
GRCh38/hg38 3q28(chr3:191319392-191543941)x1 copy number loss See cases [RCV000136907] Chr3:191319392..191543941 [GRCh38]
Chr3:191037181..191261730 [GRCh37]
Chr3:192519875..192744424 [NCBI36]
Chr3:3q28
uncertain significance
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic|likely benign
GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1 copy number loss See cases [RCV000137962] Chr3:186765148..194409416 [GRCh38]
Chr3:186482937..194130145 [GRCh37]
Chr3:187965631..195611434 [NCBI36]
Chr3:3q27.3-29
pathogenic|likely benign
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q28(chr3:191142435-192393271)x1 copy number loss See cases [RCV000140520] Chr3:191142435..192393271 [GRCh38]
Chr3:190860224..192111060 [GRCh37]
Chr3:192342918..193593754 [NCBI36]
Chr3:3q28
likely pathogenic
GRCh38/hg38 3q28(chr3:191142435-191604084)x1 copy number loss See cases [RCV000140702] Chr3:191142435..191604084 [GRCh38]
Chr3:190860224..191321873 [GRCh37]
Chr3:192342918..192804567 [NCBI36]
Chr3:3q28
uncertain significance
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q28(chr3:191322384-191384496)x3 copy number gain See cases [RCV000141935] Chr3:191322384..191384496 [GRCh38]
Chr3:191040173..191102285 [GRCh37]
Chr3:192522867..192584979 [NCBI36]
Chr3:3q28
uncertain significance
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q28(chr3:191235578-191700274)x1 copy number loss See cases [RCV000142050] Chr3:191235578..191700274 [GRCh38]
Chr3:190953367..191418063 [GRCh37]
Chr3:192436061..192900757 [NCBI36]
Chr3:3q28
uncertain significance
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1 copy number loss See cases [RCV000143464] Chr3:187434386..192142942 [GRCh38]
Chr3:187152174..191860731 [GRCh37]
Chr3:188634868..193343425 [NCBI36]
Chr3:3q27.3-28
likely pathogenic
NM_178335.3(CCDC50):c.49+20A>G single nucleotide variant not provided [RCV001675765]|not specified [RCV000253408] Chr3:191329743 [GRCh38]
Chr3:191047532 [GRCh37]
Chr3:3q28
pathogenic|benign
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1 copy number loss See cases [RCV000240447] Chr3:186291045..191037240 [GRCh37]
Chr3:3q27.3-28
pathogenic
NC_000003.12:g.191329218G>A single nucleotide variant not provided [RCV001547182] Chr3:191329218 [GRCh38]
Chr3:191047007 [GRCh37]
Chr3:3q28
likely benign
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1 copy number loss not provided [RCV000682337] Chr3:182650681..191275809 [GRCh37]
Chr3:3q26.33-28
pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29
pathogenic
GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3 copy number gain not provided [RCV000682344] Chr3:187913567..197851986 [GRCh37]
Chr3:3q28-29
pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 copy number gain not provided [RCV000682341] Chr3:186374365..197851986 [GRCh37]
Chr3:3q27.3-29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NC_000003.12:g.(?_187222939)_(194312782_?)del deletion Schizophrenia [RCV000754274] Chr3:187222939..194312782 [GRCh38]
Chr3:3q27.3-29
likely pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29
pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 copy number gain not provided [RCV000743037] Chr3:186374671..197838262 [GRCh37]
Chr3:3q27.3-29
pathogenic
GRCh37/hg19 3q28-29(chr3:189101446-197838262)x1 copy number loss not provided [RCV000743049] Chr3:189101446..197838262 [GRCh37]
Chr3:3q28-29
pathogenic
GRCh37/hg19 3q28(chr3:190981868-191020382)x1 copy number loss not provided [RCV000743059] Chr3:190981868..191020382 [GRCh37]
Chr3:3q28
benign
GRCh37/hg19 3q28(chr3:190999917-191013430)x1 copy number loss not provided [RCV000743060] Chr3:190999917..191013430 [GRCh37]
Chr3:3q28
benign
GRCh37/hg19 3q28(chr3:191045551-191070810)x1 copy number loss not provided [RCV000743061] Chr3:191045551..191070810 [GRCh37]
Chr3:3q28
benign
NC_000003.12:g.191329004G>C single nucleotide variant not provided [RCV001681880] Chr3:191329004 [GRCh38]
Chr3:191046793 [GRCh37]
Chr3:3q28
benign
GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3 copy number gain See cases [RCV000790566] Chr3:188386566..197838262 [GRCh37]
Chr3:3q28-29
pathogenic
NC_000003.11:g.(?_188118572)_(192126012_?)dup duplication TP63-Related Spectrum Disorders [RCV003107730]|not provided [RCV003107731] Chr3:188118572..192126012 [GRCh37]
Chr3:3q28
uncertain significance|no classifications from unflagged records
NC_000003.11:g.(?_188118572)_(192126012_?)del deletion TP63-Related Spectrum Disorders [RCV003107728] Chr3:188118572..192126012 [GRCh37]
Chr3:3q28
uncertain significance
NC_000003.12:g.191329292G>A single nucleotide variant not provided [RCV001559980] Chr3:191329292 [GRCh38]
Chr3:191047081 [GRCh37]
Chr3:3q28
likely benign
NM_178335.3(CCDC50):c.49+219T>G single nucleotide variant not provided [RCV001639225] Chr3:191329942 [GRCh38]
Chr3:191047731 [GRCh37]
Chr3:3q28
benign
NM_178335.3(CCDC50):c.49+233del deletion not provided [RCV001676171] Chr3:191329943 [GRCh38]
Chr3:191047732 [GRCh37]
Chr3:3q28
benign
NC_000003.12:g.191329141C>G single nucleotide variant not provided [RCV001676869] Chr3:191329141 [GRCh38]
Chr3:191046930 [GRCh37]
Chr3:3q28
benign
NM_198152.5(UTS2B):c.217A>G (p.Asn73Asp) single nucleotide variant not specified [RCV004305476] Chr3:191276830 [GRCh38]
Chr3:190994619 [GRCh37]
Chr3:3q28
uncertain significance
GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1 copy number loss 3q28q29 deletion syndrome [RCV001786535] Chr3:189608636..197532175 [GRCh37]
Chr3:3q28-29
pathogenic
NC_000003.12:g.191329261G>A single nucleotide variant not provided [RCV001577197] Chr3:191329261 [GRCh38]
Chr3:191047050 [GRCh37]
Chr3:3q28
likely benign
NC_000003.12:g.191328941T>C single nucleotide variant not provided [RCV001551833] Chr3:191328941 [GRCh38]
Chr3:191046730 [GRCh37]
Chr3:3q28
likely benign
NM_178335.3(CCDC50):c.49+248A>G single nucleotide variant not provided [RCV001658477] Chr3:191329971 [GRCh38]
Chr3:191047760 [GRCh37]
Chr3:3q28
benign
NM_178335.3(CCDC50):c.-63C>G single nucleotide variant not provided [RCV001561605] Chr3:191329612 [GRCh38]
Chr3:191047401 [GRCh37]
Chr3:3q28
likely benign
NM_178335.3(CCDC50):c.49+214G>T single nucleotide variant not provided [RCV001659467] Chr3:191329937 [GRCh38]
Chr3:191047726 [GRCh37]
Chr3:3q28
benign
GRCh37/hg19 3q28(chr3:190593853-191132748)x3 copy number gain not provided [RCV001005499] Chr3:190593853..191132748 [GRCh37]
Chr3:3q28
uncertain significance
NM_178335.3(CCDC50):c.-222C>T single nucleotide variant not provided [RCV001581476] Chr3:191329453 [GRCh38]
Chr3:191047242 [GRCh37]
Chr3:3q28
likely benign
NM_178335.3(CCDC50):c.49+231G>T single nucleotide variant not provided [RCV001635641] Chr3:191329954 [GRCh38]
Chr3:191329954..191329955 [GRCh38]
Chr3:191047743 [GRCh37]
Chr3:191047743..191047744 [GRCh37]
Chr3:3q28
benign
NM_178335.3(CCDC50):c.49+231G>A single nucleotide variant not provided [RCV001710063] Chr3:191329954 [GRCh38]
Chr3:191047743 [GRCh37]
Chr3:3q28
benign
NC_000003.12:g.191328981G>A single nucleotide variant not provided [RCV001687563] Chr3:191328981 [GRCh38]
Chr3:191046770 [GRCh37]
Chr3:3q28
benign
NC_000003.12:g.191328956C>T single nucleotide variant not provided [RCV001670720] Chr3:191328956 [GRCh38]
Chr3:191046745 [GRCh37]
Chr3:3q28
benign
NM_178335.3(CCDC50):c.45G>A (p.Lys15=) single nucleotide variant not provided [RCV001583073] Chr3:191329719 [GRCh38]
Chr3:191047508 [GRCh37]
Chr3:3q28
likely benign
NM_178335.3(CCDC50):c.49+232_49+233del deletion not provided [RCV001695549] Chr3:191329943..191329944 [GRCh38]
Chr3:191047732..191047733 [GRCh37]
Chr3:3q28
benign
NM_178335.3(CCDC50):c.49+223G>C single nucleotide variant not provided [RCV001652175] Chr3:191329946 [GRCh38]
Chr3:191047735 [GRCh37]
Chr3:3q28
benign
NC_000003.12:g.191329088A>G single nucleotide variant not provided [RCV001650266] Chr3:191329088 [GRCh38]
Chr3:191046877 [GRCh37]
Chr3:3q28
benign
GRCh37/hg19 3q28(chr3:190968757-191112636)x1 copy number loss not provided [RCV001259734] Chr3:190968757..191112636 [GRCh37]
Chr3:3q28
uncertain significance
NM_178335.3(CCDC50):c.49+255_49+258del deletion not provided [RCV001614546] Chr3:191329976..191329979 [GRCh38]
Chr3:191047765..191047768 [GRCh37]
Chr3:3q28
benign
NM_178335.3(CCDC50):c.49+231_49+233del deletion not provided [RCV001669723] Chr3:191329943..191329945 [GRCh38]
Chr3:191047732..191047734 [GRCh37]
Chr3:3q28
benign
NM_178335.3(CCDC50):c.49+228G>C single nucleotide variant not provided [RCV001687974] Chr3:191329951 [GRCh38]
Chr3:191047740 [GRCh37]
Chr3:3q28
benign
NC_000003.11:g.(?_189526041)_(192126012_?)dup duplication not provided [RCV001987827] Chr3:189526041..192126012 [GRCh37]
Chr3:3q28
uncertain significance
GRCh37/hg19 3q28(chr3:190414517-191108120)x3 copy number gain not provided [RCV001829226] Chr3:190414517..191108120 [GRCh37]
Chr3:3q28
uncertain significance
NC_000003.11:g.(?_189455509)_(192126012_?)dup duplication not provided [RCV003109805] Chr3:189455509..192126012 [GRCh37]
Chr3:3q28
uncertain significance
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29
likely pathogenic
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3 copy number gain See cases [RCV002286344] Chr3:183498520..197851986 [GRCh37]
Chr3:3q27.1-29
pathogenic
NM_178335.3(CCDC50):c.33G>A (p.Leu11=) single nucleotide variant not provided [RCV002461897] Chr3:191329707 [GRCh38]
Chr3:191047496 [GRCh37]
Chr3:3q28
conflicting interpretations of pathogenicity|uncertain significance
NM_198152.5(UTS2B):c.80A>G (p.His27Arg) single nucleotide variant not specified [RCV004237140] Chr3:191282110 [GRCh38]
Chr3:190999899 [GRCh37]
Chr3:3q28
likely benign
NM_198152.5(UTS2B):c.140G>A (p.Arg47His) single nucleotide variant not specified [RCV004259975] Chr3:191278134 [GRCh38]
Chr3:190995923 [GRCh37]
Chr3:3q28
likely benign
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29
pathogenic
Single allele duplication not provided [RCV003448704] Chr3:176412210..197847235 [GRCh37]
Chr3:3q26.32-29
pathogenic
GRCh37/hg19 3q28-29(chr3:190400378-192919373)x1 copy number loss not specified [RCV003986433] Chr3:190400378..192919373 [GRCh37]
Chr3:3q28-29
uncertain significance
NM_178335.3(CCDC50):c.49+6G>T single nucleotide variant not provided [RCV003868528] Chr3:191329729 [GRCh38]
Chr3:191047518 [GRCh37]
Chr3:3q28
uncertain significance
GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3 copy number gain See cases [RCV004442807] Chr3:179313373..197851444 [GRCh37]
Chr3:3q26.33-29
pathogenic
NM_198152.5(UTS2B):c.122A>C (p.Asp41Ala) single nucleotide variant not specified [RCV004479982] Chr3:191278152 [GRCh38]
Chr3:190995941 [GRCh37]
Chr3:3q28
uncertain significance
NM_198152.5(UTS2B):c.53C>A (p.Ser18Tyr) single nucleotide variant not specified [RCV004479984] Chr3:191282137 [GRCh38]
Chr3:190999926 [GRCh37]
Chr3:3q28
uncertain significance
NC_000003.11:g.(?_189357602)_(192126012_?)del deletion not provided [RCV004582289] Chr3:189357602..192126012 [GRCh37]
Chr3:3q28
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1733
Count of miRNA genes:832
Interacting mature miRNAs:960
Transcripts:ENST00000340524, ENST00000425357, ENST00000427544, ENST00000432514, ENST00000440476, ENST00000446788, ENST00000463450, ENST00000464814, ENST00000490825
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407138390GWAS787366_HAlzheimer disease, brain volume measurement QTL GWAS787366 (human)0.000009Alzheimer disease, brain volume measurementbrain morphological measurement (CMO:0000136)3191283019191283020Human
407314976GWAS963952_Hserum gamma-glutamyl transferase measurement QTL GWAS963952 (human)3e-10serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)3191330765191330766Human
406941515GWAS590491_Hsmoking initiation QTL GWAS590491 (human)3e-10smoking initiation3191329954191329955Human
407394706GWAS1043682_Hserum gamma-glutamyl transferase measurement QTL GWAS1043682 (human)2e-09serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)3191342821191342822Human
407331448GWAS980424_Hserum gamma-glutamyl transferase measurement QTL GWAS980424 (human)2e-09serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)3191330733191330734Human

Markers in Region
RH103754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373190,984,985 - 190,985,116UniSTSGRCh37
Build 363192,467,679 - 192,467,810RGDNCBI36
Celera3189,413,776 - 189,413,907RGD
Cytogenetic Map3q28UniSTS
HuRef3188,384,649 - 188,384,780UniSTS
GeneMap99-GB4 RH Map3721.0UniSTS


Expression

RNA-SEQ Expression

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
1201 2370 2619 2195 4734 1591 2205 4 531 1460 380 2154 6500 5882 52 3598 811 1698 1563 163

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_198152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB116021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC126567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY321313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB068521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000340524   ⟹   ENSP00000340526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3191,267,168 - 191,330,526 (-)Ensembl
Ensembl Acc Id: ENST00000425357   ⟹   ENSP00000404406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3191,268,337 - 191,282,310 (-)Ensembl
Ensembl Acc Id: ENST00000427544   ⟹   ENSP00000398761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3191,268,314 - 191,282,403 (-)Ensembl
Ensembl Acc Id: ENST00000432514   ⟹   ENSP00000401028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3191,278,160 - 191,330,473 (-)Ensembl
Ensembl Acc Id: ENST00000440476   ⟹   ENSP00000398540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3191,268,041 - 191,282,331 (-)Ensembl
Ensembl Acc Id: ENST00000446788   ⟹   ENSP00000415628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3191,268,191 - 191,282,261 (-)Ensembl
Ensembl Acc Id: ENST00000463450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3191,277,591 - 191,316,218 (-)Ensembl
Ensembl Acc Id: ENST00000464814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3191,328,658 - 191,329,312 (-)Ensembl
Ensembl Acc Id: ENST00000490825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3191,328,231 - 191,329,616 (-)Ensembl
RefSeq Acc Id: NM_198152   ⟹   NP_937795
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383191,267,168 - 191,330,526 (-)NCBI
GRCh373190,984,944 - 191,048,325 (-)RGD
Build 363192,468,042 - 192,482,734 (-)NCBI Archive
Celera3189,413,735 - 189,477,117 (-)RGD
HuRef3188,384,608 - 188,448,037 (-)ENTREZGENE
CHM1_13190,948,509 - 191,011,938 (-)NCBI
T2T-CHM13v2.03194,082,873 - 194,146,571 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512631   ⟹   XP_011510933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383191,267,168 - 191,329,159 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006091   ⟹   XP_016861580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383191,273,131 - 191,329,159 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047447899   ⟹   XP_047303855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383191,267,168 - 191,346,182 (-)NCBI
RefSeq Acc Id: XM_054346013   ⟹   XP_054201988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03194,088,845 - 194,145,210 (-)NCBI
RefSeq Acc Id: XM_054346014   ⟹   XP_054201989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03194,082,170 - 194,145,210 (-)NCBI
RefSeq Acc Id: XM_054346015   ⟹   XP_054201990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03194,081,889 - 194,166,084 (-)NCBI
RefSeq Acc Id: NP_937795   ⟸   NM_198152
- Peptide Label: precursor
- UniProtKB: D3DNW1 (UniProtKB/Swiss-Prot),   B3KQY8 (UniProtKB/Swiss-Prot),   Q2M1Z2 (UniProtKB/Swiss-Prot),   Q765I0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011510933   ⟸   XM_011512631
- Peptide Label: isoform X2
- UniProtKB: D3DNW1 (UniProtKB/Swiss-Prot),   B3KQY8 (UniProtKB/Swiss-Prot),   Q2M1Z2 (UniProtKB/Swiss-Prot),   Q765I0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016861580   ⟸   XM_017006091
- Peptide Label: isoform X1
- UniProtKB: F8WCV4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000404406   ⟸   ENST00000425357
Ensembl Acc Id: ENSP00000398761   ⟸   ENST00000427544
Ensembl Acc Id: ENSP00000398540   ⟸   ENST00000440476
Ensembl Acc Id: ENSP00000415628   ⟸   ENST00000446788
Ensembl Acc Id: ENSP00000401028   ⟸   ENST00000432514
Ensembl Acc Id: ENSP00000340526   ⟸   ENST00000340524
RefSeq Acc Id: XP_047303855   ⟸   XM_047447899
- Peptide Label: isoform X2
- UniProtKB: Q765I0 (UniProtKB/Swiss-Prot),   D3DNW1 (UniProtKB/Swiss-Prot),   B3KQY8 (UniProtKB/Swiss-Prot),   Q2M1Z2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054201990   ⟸   XM_054346015
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054201989   ⟸   XM_054346014
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054201988   ⟸   XM_054346013
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q765I0-F1-model_v2 AlphaFold Q765I0 1-119 view protein structure

Promoters
RGD ID:6866612
Promoter ID:EPDNEW_H6471
Type:initiation region
Name:UTS2B_2
Description:urotensin 2B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6474  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383191,282,323 - 191,282,383EPDNEW
RGD ID:6866618
Promoter ID:EPDNEW_H6474
Type:initiation region
Name:UTS2B_1
Description:urotensin 2B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6471  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383191,330,526 - 191,330,586EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30894 AgrOrtholog
COSMIC UTS2B COSMIC
Ensembl Genes ENSG00000188958 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000340524 ENTREZGENE
  ENST00000340524.10 UniProtKB/Swiss-Prot
  ENST00000425357.1 UniProtKB/TrEMBL
  ENST00000427544 ENTREZGENE
  ENST00000427544.6 UniProtKB/Swiss-Prot
  ENST00000432514.5 UniProtKB/TrEMBL
  ENST00000440476.5 UniProtKB/TrEMBL
  ENST00000446788 ENTREZGENE
  ENST00000446788.5 UniProtKB/TrEMBL
GTEx ENSG00000188958 GTEx
HGNC ID HGNC:30894 ENTREZGENE
Human Proteome Map UTS2B Human Proteome Map
InterPro U-IIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Urotensin_II UniProtKB/Swiss-Prot
KEGG Report hsa:257313 UniProtKB/Swiss-Prot
NCBI Gene 257313 ENTREZGENE
OMIM 618134 OMIM
PANTHER PTHR36876 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UROTENSIN-2B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670632 PharmGKB
PROSITE UROTENSIN_II UniProtKB/Swiss-Prot
UniProt B3KQY8 ENTREZGENE
  C9JU87_HUMAN UniProtKB/TrEMBL
  D3DNW1 ENTREZGENE
  F2Z3I1_HUMAN UniProtKB/TrEMBL
  F8WCV4 ENTREZGENE, UniProtKB/TrEMBL
  Q2M1Z2 ENTREZGENE
  Q765I0 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KQY8 UniProtKB/Swiss-Prot
  D3DNW1 UniProtKB/Swiss-Prot
  Q2M1Z2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-03-12 UTS2B  urotensin 2B  UTS2D  urotensin 2 domain containing  Symbol and/or name change 5135510 APPROVED