DUOXA2 (dual oxidase maturation factor 2) - Rat Genome Database

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Gene: DUOXA2 (dual oxidase maturation factor 2) Homo sapiens
Analyze
Symbol: DUOXA2
Name: dual oxidase maturation factor 2
RGD ID: 1603235
HGNC Page HGNC
Description: Enables enzyme binding activity. Involved in several processes, including positive regulation of cell motility; positive regulation of hydrogen peroxide biosynthetic process; and protein maturation. Located in several cellular components, including apical part of cell; cell leading edge; and endoplasmic reticulum. Implicated in thyroid dyshormonogenesis 5.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: SIMNIPHOM; TDH5
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 Ensembl1545,114,326 - 45,118,421 (+)EnsemblGRCh38hg38GRCh38
GRCh381545,114,321 - 45,118,421 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371545,406,524 - 45,410,619 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361543,193,816 - 43,197,596 (+)NCBINCBI36hg18NCBI36
Celera1522,297,958 - 22,301,739 (+)NCBI
Cytogenetic Map15q21.1NCBI
HuRef1522,230,735 - 22,234,516 (+)NCBIHuRef
CHM1_11545,524,856 - 45,528,637 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:12477932   PMID:16344560   PMID:16651268   PMID:17374849   PMID:18042646   PMID:18700007   PMID:19339556   PMID:21321110   PMID:21873635   PMID:22592922   PMID:22814254   PMID:23010498  
PMID:23292166   PMID:24492313   PMID:25675383   PMID:25761904   PMID:27349010   PMID:28100324   PMID:28541007   PMID:31044655   PMID:31513783   PMID:32425884  


Genomics

Comparative Map Data
DUOXA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1545,114,326 - 45,118,421 (+)EnsemblGRCh38hg38GRCh38
GRCh381545,114,321 - 45,118,421 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371545,406,524 - 45,410,619 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361543,193,816 - 43,197,596 (+)NCBINCBI36hg18NCBI36
Celera1522,297,958 - 22,301,739 (+)NCBI
Cytogenetic Map15q21.1NCBI
HuRef1522,230,735 - 22,234,516 (+)NCBIHuRef
CHM1_11545,524,856 - 45,528,637 (+)NCBICHM1_1
Duoxa2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392122,129,381 - 122,133,366 (+)NCBIGRCm39mm39
GRCm39 Ensembl2122,129,381 - 122,133,366 (+)Ensembl
GRCm382122,298,900 - 122,302,885 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2122,298,900 - 122,302,885 (+)EnsemblGRCm38mm10GRCm38
MGSCv372122,124,636 - 122,128,621 (+)NCBIGRCm37mm9NCBIm37
MGSCv362121,990,341 - 121,994,326 (+)NCBImm8
Celera2123,449,032 - 123,452,872 (+)NCBICelera
Cytogenetic Map2E5NCBI
Duoxa2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23109,245,476 - 109,248,844 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl3109,245,476 - 109,248,968 (+)Ensembl
Rnor_6.03114,236,718 - 114,240,086 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3114,236,718 - 114,240,086 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03120,776,164 - 120,779,532 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43109,077,891 - 109,081,259 (+)NCBIRGSC3.4rn4RGSC3.4
Celera3108,143,293 - 108,146,662 (+)NCBICelera
Cytogenetic Map3q35NCBI
Duoxa2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554098,266,873 - 8,270,486 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554098,266,873 - 8,270,486 (-)NCBIChiLan1.0ChiLan1.0
DUOXA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11542,415,195 - 42,418,979 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1542,415,195 - 42,418,974 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01524,061,922 - 24,066,016 (+)NCBIMhudiblu_PPA_v0panPan3
DUOXA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13011,541,849 - 11,546,019 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3011,542,078 - 11,545,811 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3011,597,991 - 11,602,183 (+)NCBI
ROS_Cfam_1.03011,678,623 - 11,690,210 (+)NCBI
UMICH_Zoey_3.13011,584,860 - 11,589,033 (+)NCBI
UNSW_CanFamBas_1.03011,707,421 - 11,711,539 (+)NCBI
UU_Cfam_GSD_1.03011,826,699 - 11,831,334 (+)NCBI
Duoxa2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864089,984,217 - 89,987,570 (+)NCBI
SpeTri2.0NW_0049364717,832,234 - 7,835,488 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DUOXA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1126,572,533 - 126,652,463 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11126,616,631 - 126,620,359 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21141,198,367 - 141,205,268 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DUOXA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12638,084,943 - 38,089,701 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2638,086,092 - 38,089,420 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666048102,969,087 - 102,972,867 (+)NCBIVero_WHO_p1.0
Duoxa2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473114,118,526 - 14,121,811 (-)NCBIHetGla_female_1.0hetGla2

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1068
Count of miRNA genes:639
Interacting mature miRNAs:726
Transcripts:ENST00000323030, ENST00000350243, ENST00000491993
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.


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 1 1 1
Medium 212 5 639 19 17 17 5 2 9 92 631 4 2 3
Low 517 132 258 176 64 73 1536 140 219 45 633 654 109 68 909 2
Below cutoff 1448 1915 611 284 604 229 1652 1332 2184 159 556 169 58 1 912 1097 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000323030   ⟹   ENSP00000319705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1545,114,326 - 45,118,421 (+)Ensembl
RefSeq Acc Id: ENST00000350243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1545,114,326 - 45,117,738 (+)Ensembl
RefSeq Acc Id: ENST00000491993   ⟹   ENSP00000454110
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1545,114,474 - 45,118,105 (+)Ensembl
RefSeq Acc Id: NM_207581   ⟹   NP_997464
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381545,114,326 - 45,118,421 (+)NCBI
GRCh371545,406,523 - 45,410,304 (+)RGD
Build 361543,193,816 - 43,197,596 (+)NCBI Archive
Celera1522,297,958 - 22,301,739 (+)RGD
HuRef1522,230,735 - 22,234,516 (+)ENTREZGENE
CHM1_11545,524,856 - 45,528,637 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022180   ⟹   XP_016877669
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381545,114,321 - 45,118,106 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_997464   ⟸   NM_207581
- UniProtKB: Q1HG44 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016877669   ⟸   XM_017022180
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000454110   ⟸   ENST00000491993
RefSeq Acc Id: ENSP00000319705   ⟸   ENST00000323030

Promoters
RGD ID:7229351
Promoter ID:EPDNEW_H20422
Type:multiple initiation site
Name:DUOXA2_1
Description:dual oxidase maturation factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381545,114,326 - 45,114,386EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter) single nucleotide variant Thyroglobulin synthesis defect [RCV000000473] Chr15:45117274 [GRCh38]
Chr15:45409472 [GRCh37]
Chr15:15q21.1
pathogenic
NM_014080.4(DUOX2):c.1078G>A (p.Gly360Ser) single nucleotide variant Malignant melanoma [RCV000062870] Chr15:45109943 [GRCh38]
Chr15:45402141 [GRCh37]
Chr15:43189433 [NCBI36]
Chr15:15q21.1
not provided
NM_207581.4(DUOXA2):c.414C>G (p.Tyr138Ter) single nucleotide variant Thyroglobulin synthesis defect [RCV000660507] Chr15:45116589 [GRCh38]
Chr15:45408787 [GRCh37]
Chr15:15q21.1
pathogenic
NM_001276267.1(DUOXA1):c.624C>T (p.Ile208=) single nucleotide variant Malignant melanoma [RCV000070799] Chr15:45120116 [GRCh38]
Chr15:45412314 [GRCh37]
Chr15:43199606 [NCBI36]
Chr15:15q21.1
not provided
GRCh38/hg38 15q21.1(chr15:44765914-45476854)x3 copy number gain See cases [RCV000139024] Chr15:44765914..45476854 [GRCh38]
Chr15:45058112..45769052 [GRCh37]
Chr15:42845404..43556344 [NCBI36]
Chr15:15q21.1
uncertain significance
GRCh38/hg38 15q21.1(chr15:45026980-45579878)x3 copy number gain See cases [RCV000143255] Chr15:45026980..45579878 [GRCh38]
Chr15:45319178..45872076 [GRCh37]
Chr15:43106470..43659368 [NCBI36]
Chr15:15q21.1
uncertain significance
GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3 copy number gain See cases [RCV000143502] Chr15:45032714..45592481 [GRCh38]
Chr15:45324912..45884679 [GRCh37]
Chr15:43112204..43671971 [NCBI36]
Chr15:15q21.1
uncertain significance
NM_207581.4(DUOXA2):c.205+2T>C single nucleotide variant Congenital hypothyroidism [RCV001270332]|Thyroglobulin synthesis defect [RCV000991175]|not provided [RCV000255221] Chr15:45115858 [GRCh38]
Chr15:45408056 [GRCh37]
Chr15:15q21.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q21.1(chr15:45059827-45725363)x3 copy number gain See cases [RCV000239920] Chr15:45059827..45725363 [GRCh37]
Chr15:15q21.1
uncertain significance
NM_207581.4(DUOXA2):c.341-15C>T single nucleotide variant Thyroglobulin synthesis defect [RCV000603289]|not specified [RCV000241784] Chr15:45116501 [GRCh38]
Chr15:45408699 [GRCh37]
Chr15:15q21.1
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant Thyroglobulin synthesis defect [RCV000615755]|not provided [RCV001660386]|not specified [RCV000250029] Chr15:45116216 [GRCh38]
Chr15:45408414 [GRCh37]
Chr15:15q21.1
benign
NM_207581.4(DUOXA2):c.554+6T>C single nucleotide variant Thyroglobulin synthesis defect [RCV000615032]|not specified [RCV000252536] Chr15:45116735 [GRCh38]
Chr15:45408933 [GRCh37]
Chr15:15q21.1
benign
NM_207581.4(DUOXA2):c.341-4A>G single nucleotide variant Thyroglobulin synthesis defect [RCV000610439]|not specified [RCV000247778] Chr15:45116512 [GRCh38]
Chr15:45408710 [GRCh37]
Chr15:15q21.1
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant Thyroglobulin synthesis defect [RCV000604729]|not provided [RCV001651296]|not specified [RCV000243123] Chr15:45117073 [GRCh38]
Chr15:45409271 [GRCh37]
Chr15:15q21.1
benign
GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1 copy number loss See cases [RCV000240380] Chr15:44484701..47475522 [GRCh37]
Chr15:15q15.3-21.1
uncertain significance
NM_207581.4(DUOXA2):c.413dup (p.Tyr138Ter) duplication Thyroglobulin synthesis defect [RCV000490516] Chr15:45116587..45116588 [GRCh38]
Chr15:45408785..45408786 [GRCh37]
Chr15:15q21.1
pathogenic
NM_207581.4(DUOXA2):c.10_11dup (p.Trp4fs) microsatellite not provided [RCV000599199] Chr15:45114612..45114613 [GRCh38]
Chr15:45406810..45406811 [GRCh37]
Chr15:15q21.1
pathogenic
NM_207581.4(DUOXA2):c.963_*1del (p.Ter321TrpextTer?) deletion not provided [RCV000592038] Chr15:45117908..45117909 [GRCh38]
Chr15:45410106..45410107 [GRCh37]
Chr15:15q21.1
uncertain significance
NM_207581.4(DUOXA2):c.463C>G (p.Leu155Val) single nucleotide variant Congenital hypothyroidism [RCV001270333]|not provided [RCV000930689]|not specified [RCV000413175] Chr15:45116638 [GRCh38]
Chr15:45408836 [GRCh37]
Chr15:15q21.1
pathogenic|benign|uncertain significance
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)x1 copy number loss See cases [RCV000447035] Chr15:42850434..49592633 [GRCh37]
Chr15:15q15.2-21.2
pathogenic
GRCh37/hg19 15q21.1(chr15:45056077-45772114)x3 copy number gain See cases [RCV000447851] Chr15:45056077..45772114 [GRCh37]
Chr15:15q21.1
uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1 copy number loss See cases [RCV000448968] Chr15:41689327..52446981 [GRCh37]
Chr15:15q15.1-21.2
pathogenic
NM_207581.4(DUOXA2):c.778_779del (p.Cys260fs) microsatellite not provided [RCV000483900] Chr15:45117722..45117723 [GRCh38]
Chr15:45409920..45409921 [GRCh37]
Chr15:15q21.1
uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q21.1(chr15:45056077-45772114)x3 copy number gain See cases [RCV000510282] Chr15:45056077..45772114 [GRCh37]
Chr15:15q21.1
uncertain significance
NM_207581.4(DUOXA2):c.740G>C (p.Gly247Ala) single nucleotide variant not provided [RCV000493551] Chr15:45117276 [GRCh38]
Chr15:45409474 [GRCh37]
Chr15:15q21.1
uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
GRCh37/hg19 15q21.1(chr15:45360338-45437443)x2 copy number loss not provided [RCV000659227] Chr15:45360338..45437443 [GRCh37]
Chr15:15q21.1
likely pathogenic
GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1 copy number loss not provided [RCV000683686] Chr15:43759773..53252240 [GRCh37]
Chr15:15q15.3-21.3
pathogenic
NC_000015.9:g.(?_45152372)_(45670671_?)dup duplication Arginine:glycine amidinotransferase deficiency [RCV000708477] Chr15:44860174..45378473 [GRCh38]
Chr15:45152372..45670671 [GRCh37]
Chr15:15q21.1
uncertain significance
GRCh37/hg19 15q21.1(chr15:45142419-45889706)x3 copy number gain not provided [RCV000751298] Chr15:45142419..45889706 [GRCh37]
Chr15:15q21.1
benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001648190] Chr15:45116493 [GRCh38]
Chr15:45408691 [GRCh37]
Chr15:15q21.1
benign
NM_207581.4(DUOXA2):c.420G>A (p.Ala140=) single nucleotide variant not provided [RCV000939100] Chr15:45116595 [GRCh38]
Chr15:45408793 [GRCh37]
Chr15:15q21.1
likely benign
NM_207581.4(DUOXA2):c.753G>T (p.Trp251Cys) single nucleotide variant not provided [RCV000899101] Chr15:45117289 [GRCh38]
Chr15:45409487 [GRCh37]
Chr15:15q21.1
likely benign
NM_207581.4(DUOXA2):c.303G>A (p.Leu101=) single nucleotide variant not provided [RCV000921156] Chr15:45116221 [GRCh38]
Chr15:45408419 [GRCh37]
Chr15:15q21.1
benign
NM_207581.4(DUOXA2):c.769+9C>A single nucleotide variant not provided [RCV000900347] Chr15:45117314 [GRCh38]
Chr15:45409512 [GRCh37]
Chr15:15q21.1
likely benign
NM_207581.4(DUOXA2):c.639C>A (p.Thr213=) single nucleotide variant not provided [RCV000968290] Chr15:45117175 [GRCh38]
Chr15:45409373 [GRCh37]
Chr15:15q21.1
benign
NM_207581.4(DUOXA2):c.720C>A (p.Ser240=) single nucleotide variant not provided [RCV000923483] Chr15:45117256 [GRCh38]
Chr15:45409454 [GRCh37]
Chr15:15q21.1
likely benign
NM_207581.4(DUOXA2):c.118C>T (p.Leu40Phe) single nucleotide variant not provided [RCV000920901] Chr15:45114723 [GRCh38]
Chr15:45406921 [GRCh37]
Chr15:15q21.1
benign
NM_207581.4(DUOXA2):c.719C>A (p.Ser240Tyr) single nucleotide variant not provided [RCV000899100] Chr15:45117255 [GRCh38]
Chr15:45409453 [GRCh37]
Chr15:15q21.1
likely benign
NM_207581.4(DUOXA2):c.554+7G>T single nucleotide variant not provided [RCV000942635] Chr15:45116736 [GRCh38]
Chr15:45408934 [GRCh37]
Chr15:15q21.1
likely benign
NM_207581.4(DUOXA2):c.893_894del (p.Leu298fs) deletion not provided [RCV000894048] Chr15:45117839..45117840 [GRCh38]
Chr15:45410037..45410038 [GRCh37]
Chr15:15q21.1
benign
NM_207581.4(DUOXA2):c.723G>A (p.Ala241=) single nucleotide variant not provided [RCV000937233] Chr15:45117259 [GRCh38]
Chr15:45409457 [GRCh37]
Chr15:15q21.1
likely benign
GRCh37/hg19 15q21.1(chr15:45063803-45772378)x3 copy number gain not provided [RCV000846392] Chr15:45063803..45772378 [GRCh37]
Chr15:15q21.1
uncertain significance
null deletion not provided [RCV001675490] Chr15:45116758..45116759 [GRCh38]
Chr15:45408956..45408957 [GRCh37]
Chr15:15q21.1
benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV001710518] Chr15:45116792 [GRCh38]
Chr15:45408990 [GRCh37]
Chr15:15q21.1
benign
NM_207581.4(DUOXA2):c.561G>T (p.Ala187=) single nucleotide variant not provided [RCV000933186] Chr15:45117097 [GRCh38]
Chr15:45409295 [GRCh37]
Chr15:15q21.1
likely benign
NM_207581.4(DUOXA2):c.519C>T (p.Tyr173=) single nucleotide variant not provided [RCV000974126] Chr15:45116694 [GRCh38]
Chr15:45408892 [GRCh37]
Chr15:15q21.1
benign
NM_207581.4(DUOXA2):c.831T>G (p.Ala277=) single nucleotide variant not provided [RCV000901275] Chr15:45117777 [GRCh38]
Chr15:45409975 [GRCh37]
Chr15:15q21.1
likely benign
NM_207581.4(DUOXA2):c.51C>T (p.Ala17=) single nucleotide variant not provided [RCV000973526] Chr15:45114656 [GRCh38]
Chr15:45406854 [GRCh37]
Chr15:15q21.1
benign
NM_207581.4(DUOXA2):c.501C>A (p.Cys167Ter) single nucleotide variant Thyroglobulin synthesis defect [RCV001175131] Chr15:45116676 [GRCh38]
Chr15:45408874 [GRCh37]
Chr15:15q21.1
pathogenic
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001676208] Chr15:45114520 [GRCh38]
Chr15:45406718 [GRCh37]
Chr15:15q21.1
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001652982] Chr15:45114229 [GRCh38]
Chr15:45406427 [GRCh37]
Chr15:15q21.1
benign
null single nucleotide variant not provided [RCV001635783] Chr15:45116815 [GRCh38]
Chr15:45409013 [GRCh37]
Chr15:15q21.1
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001684282] Chr15:45115769 [GRCh38]
Chr15:45407967 [GRCh37]
Chr15:15q21.1
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001652051] Chr15:45116760 [GRCh38]
Chr15:45408958 [GRCh37]
Chr15:15q21.1
benign
null single nucleotide variant not provided [RCV001690246] Chr15:45116998 [GRCh38]
Chr15:45409196 [GRCh37]
Chr15:15q21.1
benign
NM_207581.4(DUOXA2):c.604G>A (p.Ala202Thr) single nucleotide variant Thyroglobulin synthesis defect [RCV001248815] Chr15:45117140 [GRCh38]
Chr15:45409338 [GRCh37]
Chr15:15q21.1
pathogenic
NM_207581.4(DUOXA2):c.95dup (p.Leu32fs) duplication Thyroglobulin synthesis defect [RCV001251192]|not provided [RCV001383582] Chr15:45114695..45114696 [GRCh38]
Chr15:45406893..45406894 [GRCh37]
Chr15:15q21.1
pathogenic|likely pathogenic
GRCh37/hg19 15q21.1(chr15:45056077-45772378)x3 copy number gain not provided [RCV001259210] Chr15:45056077..45772378 [GRCh37]
Chr15:15q21.1
uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance
NC_000015.9:g.(?_44855319)_(45898712_?)dup duplication Arginine:glycine amidinotransferase deficiency [RCV001304383] Chr15:44855319..45898712 [GRCh37]
Chr15:15q21.1
uncertain significance
NM_207581.4(DUOXA2):c.147+2T>C single nucleotide variant Thyroglobulin synthesis defect [RCV001336196] Chr15:45114754 [GRCh38]
Chr15:45406952 [GRCh37]
Chr15:15q21.1
pathogenic
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001685673] Chr15:45114846 [GRCh38]
Chr15:45407044 [GRCh37]
Chr15:15q21.1
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001715894] Chr15:45117274 [GRCh38]
Chr15:45409472 [GRCh37]
Chr15:15q21.1
benign
null single nucleotide variant not provided [RCV001668070] Chr15:45114192 [GRCh38]
Chr15:45406390 [GRCh37]
Chr15:15q21.1
benign
null single nucleotide variant not provided [RCV001616847] Chr15:45117534 [GRCh38]
Chr15:45409732 [GRCh37]
Chr15:15q21.1
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32698 AgrOrtholog
COSMIC DUOXA2 COSMIC
Ensembl Genes ENSG00000140274 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000319705 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000454110 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000323030 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000491993 UniProtKB/Swiss-Prot
GTEx ENSG00000140274 GTEx
HGNC ID HGNC:32698 ENTREZGENE
Human Proteome Map DUOXA2 Human Proteome Map
InterPro Dual_oxidase_maturation_fac UniProtKB/Swiss-Prot
KEGG Report hsa:405753 UniProtKB/Swiss-Prot
NCBI Gene 405753 ENTREZGENE
OMIM 274900 OMIM
  612772 OMIM
PANTHER PTHR31158 UniProtKB/Swiss-Prot
Pfam DuoxA UniProtKB/Swiss-Prot
PharmGKB PA145008523 PharmGKB
UniProt DOXA2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RPI9 UniProtKB/Swiss-Prot
  H0YNQ6 UniProtKB/Swiss-Prot