NKX3-1 (NK3 homeobox 1) - Rat Genome Database

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Gene: NKX3-1 (NK3 homeobox 1) Homo sapiens
Analyze
Symbol: NKX3-1
Name: NK3 homeobox 1
RGD ID: 1313354
HGNC Page HGNC
Description: Exhibits several functions, including cysteine-type endopeptidase activator activity involved in apoptotic process; estrogen receptor binding activity; and histone deacetylase binding activity. Involved in several processes, including cellular response to cytokine stimulus; positive regulation of cell communication; and positive regulation of macromolecule metabolic process. Localizes to cytosol; nucleoplasm; and site of DNA damage. Implicated in hepatocellular carcinoma. Biomarker of hepatocellular carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BAPX2; homeobox protein NK-3 homolog A; homeobox protein Nkx-3.1; NK homeobox, family 3, A; NK3 transcription factor homolog A; NK3 transcription factor related, locus 1; NKX3; NKX3.1; NKX3A
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 Ensembl823,678,697 - 23,682,938 (-)EnsemblGRCh38hg38GRCh38
GRCh38823,678,693 - 23,682,938 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37823,536,206 - 23,540,451 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36823,592,173 - 23,596,395 (-)NCBINCBI36hg18NCBI36
Build 34823,592,172 - 23,596,395NCBI
Celera822,499,634 - 22,503,878 (-)NCBI
Cytogenetic Map8p21.2NCBI
HuRef822,081,521 - 22,085,754 (-)NCBIHuRef
CHM1_1823,738,407 - 23,742,639 (-)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

Biological Process
activation of cysteine-type endopeptidase activity involved in apoptotic process  (IDA)
androgen receptor signaling pathway  (IDA)
branching involved in prostate gland morphogenesis  (ISO,ISS)
branching morphogenesis of an epithelial tube  (ISO,ISS)
cell differentiation  (IBA)
cellular response to drug  (IEP)
cellular response to hypoxia  (IDA)
cellular response to interleukin-1  (IEP)
cellular response to steroid hormone stimulus  (IDA)
cellular response to tumor necrosis factor  (IEP)
dorsal aorta development  (IEA,ISO)
epithelial cell proliferation involved in salivary gland morphogenesis  (ISO,ISS)
heart development  (IEA,ISO)
male gonad development  (IEA,ISO)
metanephros development  (IEA,ISO)
multicellular organism development  (TAS)
negative regulation of cell population proliferation  (IDA,ISO)
negative regulation of epithelial cell proliferation  (ISO,ISS)
negative regulation of epithelial cell proliferation involved in prostate gland development  (ISO,ISS)
negative regulation of gene expression  (IDA)
negative regulation of insulin-like growth factor receptor signaling pathway  (ISO,ISS)
negative regulation of mitotic cell cycle  (IDA)
negative regulation of transcription, DNA-templated  (IDA,IMP)
obsolete negative regulation of estrogen receptor binding  (IDA)
pharyngeal system development  (IEA,ISO)
positive regulation of androgen secretion  (IDA)
positive regulation of apoptotic signaling pathway  (IDA)
positive regulation of cell death  (IDA)
positive regulation of cell division  (IMP)
positive regulation of cell population proliferation  (IMP)
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  (IDA)
positive regulation of DNA-binding transcription factor activity  (IEA)
positive regulation of gene expression  (IDA,IMP)
positive regulation of intrinsic apoptotic signaling pathway  (IDA)
positive regulation of mitotic cell cycle  (IMP)
positive regulation of phosphatidylinositol 3-kinase signaling  (IDA)
positive regulation of protein phosphorylation  (IDA)
positive regulation of response to DNA damage stimulus  (IDA)
positive regulation of transcription by RNA polymerase II  (IDA)
positive regulation of transcription, DNA-templated  (IMP,ISO,ISS)
prostate gland development  (ISO)
protein kinase B signaling  (IMP)
regulation of cell cycle  (IDA)
regulation of protein localization  (IMP)
regulation of transcription by RNA polymerase II  (IBA)
regulation of transcription, DNA-templated  (NAS)
response to testosterone  (ISS)
salivary gland development  (ISO,ISS)
somitogenesis  (IEA,ISO)
urogenital system development  (ISO)

Cellular Component
chromatin  (ISA)
cytosol  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IC,IDA,NAS)
site of DNA damage  (IDA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:9226374   PMID:9377551   PMID:9537602   PMID:10559189   PMID:10993896   PMID:11085535   PMID:11137288   PMID:11809674   PMID:11980664   PMID:12450213   PMID:12477932   PMID:12661036  
PMID:12972618   PMID:14633588   PMID:14648854   PMID:15311057   PMID:15489334   PMID:15523673   PMID:15691383   PMID:15734999   PMID:15880262   PMID:16201967   PMID:16382041   PMID:16397218  
PMID:16413692   PMID:16442598   PMID:16519150   PMID:16581776   PMID:16697957   PMID:16814806   PMID:16817226   PMID:16845664   PMID:17108105   PMID:17202838   PMID:17234752   PMID:17486276  
PMID:17488276   PMID:17602165   PMID:18077445   PMID:18296735   PMID:18360715   PMID:18454873   PMID:18757402   PMID:18794125   PMID:18816836   PMID:18974119   PMID:19258508   PMID:19263243  
PMID:19266349   PMID:19274049   PMID:19453261   PMID:19462257   PMID:19597465   PMID:19767753   PMID:19780584   PMID:19797053   PMID:19886863   PMID:19915572   PMID:20363913   PMID:20395202  
PMID:20479932   PMID:20564319   PMID:20588175   PMID:20599703   PMID:20676098   PMID:20716579   PMID:20842667   PMID:20855495   PMID:21056661   PMID:21456068   PMID:21873635   PMID:21945437  
PMID:22083957   PMID:22179513   PMID:22344708   PMID:22484818   PMID:22741436   PMID:22848398   PMID:22910912   PMID:23129228   PMID:23786676   PMID:23836514   PMID:23867798   PMID:23890999  
PMID:24418414   PMID:24434284   PMID:24779299   PMID:24894197   PMID:24996432   PMID:25360740   PMID:25777618   PMID:25977336   PMID:26148677   PMID:26689514   PMID:26841725   PMID:28385453  
PMID:28473536   PMID:28514442   PMID:28581204   PMID:28679531   PMID:28890397   PMID:30013107   PMID:30266798   PMID:30582190   PMID:30836777   PMID:31175351   PMID:31213464   PMID:31865345  
PMID:31972596   PMID:32202926   PMID:32296183  


Genomics

Comparative Map Data
NKX3-1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl823,678,697 - 23,682,938 (-)EnsemblGRCh38hg38GRCh38
GRCh38823,678,693 - 23,682,938 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37823,536,206 - 23,540,451 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36823,592,173 - 23,596,395 (-)NCBINCBI36hg18NCBI36
Build 34823,592,172 - 23,596,395NCBI
Celera822,499,634 - 22,503,878 (-)NCBI
Cytogenetic Map8p21.2NCBI
HuRef822,081,521 - 22,085,754 (-)NCBIHuRef
CHM1_1823,738,407 - 23,742,639 (-)NCBICHM1_1
Nkx3-1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391469,428,141 - 69,432,107 (+)NCBIGRCm39mm39
GRCm39 Ensembl1469,428,087 - 69,432,111 (+)Ensembl
GRCm381469,190,692 - 69,194,658 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1469,190,638 - 69,194,662 (+)EnsemblGRCm38mm10GRCm38
MGSCv371469,808,749 - 69,812,715 (+)NCBIGRCm37mm9NCBIm37
MGSCv361468,144,022 - 68,147,988 (+)NCBImm8
Celera1466,971,062 - 66,975,028 (+)NCBICelera
Cytogenetic Map14D2NCBI
cM Map1436.02NCBI
Nkx3-1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21544,473,851 - 44,476,443 (+)NCBI
Rnor_6.0 Ensembl1551,065,316 - 51,068,421 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01551,065,316 - 51,067,908 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01554,796,102 - 54,798,694 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41549,743,313 - 49,745,905 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11549,752,541 - 49,761,067 (+)NCBI
Celera1544,157,589 - 44,160,181 (+)NCBICelera
Cytogenetic Map15p11NCBI
Nkx3-1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540346,806,178 - 46,836,310 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540346,807,846 - 46,809,924 (-)NCBIChiLan1.0ChiLan1.0
NKX3-1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1819,860,748 - 19,864,968 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl819,863,275 - 19,864,942 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0822,926,145 - 22,930,396 (-)NCBIMhudiblu_PPA_v0panPan3
NKX3-1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12533,815,343 - 33,817,465 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2533,815,095 - 33,817,474 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2534,403,094 - 34,405,850 (+)NCBI
ROS_Cfam_1.02534,021,324 - 34,024,080 (+)NCBI
UMICH_Zoey_3.12533,968,569 - 33,971,325 (+)NCBI
UNSW_CanFamBas_1.02533,822,490 - 33,825,246 (+)NCBI
UU_Cfam_GSD_1.02533,977,508 - 33,980,265 (+)NCBI
Nkx3-1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494311,461,374 - 11,484,403 (+)NCBI
SpeTri2.0NW_0049365557,087,677 - 7,091,334 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NKX3-1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl147,782,421 - 7,787,034 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1147,783,296 - 7,787,036 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2148,625,545 - 8,630,189 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NKX3-1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1821,792,069 - 21,797,258 (-)NCBI
ChlSab1.1 Ensembl821,791,422 - 21,796,319 (-)Ensembl
Nkx3-1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475818,874,399 - 18,876,982 (-)NCBI

Position Markers
SHGC-57295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,536,322 - 23,536,521UniSTSGRCh37
Build 36823,592,267 - 23,592,466RGDNCBI36
Celera822,499,750 - 22,499,949RGD
Cytogenetic Map8p21.2UniSTS
HuRef822,081,637 - 22,081,836UniSTS
TNG Radiation Hybrid Map812612.0UniSTS
RH94244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,536,709 - 23,536,871UniSTSGRCh37
Build 36823,592,654 - 23,592,816RGDNCBI36
Celera822,500,137 - 22,500,299RGD
Cytogenetic Map8p21.2UniSTS
HuRef822,082,021 - 22,082,183UniSTS
GeneMap99-GB4 RH Map898.55UniSTS
NKX3-1_1192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,536,218 - 23,536,862UniSTSGRCh37
Build 36823,592,163 - 23,592,807RGDNCBI36
Celera822,499,646 - 22,500,290RGD
HuRef822,081,533 - 22,082,174UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1187
Count of miRNA genes:722
Interacting mature miRNAs:827
Transcripts:ENST00000380871, ENST00000523261
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 20
Medium 33 5 11 144 25 8 30 29 44 20 686 105 144 2 7
Low 2158 2327 1619 439 1130 418 3493 2080 2837 331 722 1429 26 1086 2339 3
Below cutoff 220 648 87 36 695 35 825 76 812 66 16 66 1 116 441 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001256339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC051642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF247704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF249669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF249670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF249671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF249672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY883935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF511129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U80669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U91540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380871   ⟹   ENSP00000370253
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl823,678,697 - 23,682,938 (-)Ensembl
RefSeq Acc Id: ENST00000523261   ⟹   ENSP00000429729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl823,680,988 - 23,682,889 (-)Ensembl
RefSeq Acc Id: NM_001256339   ⟹   NP_001243268
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,678,693 - 23,682,889 (-)NCBI
GRCh37823,536,206 - 23,540,450 (-)NCBI
HuRef822,081,521 - 22,085,754 (-)NCBI
CHM1_1823,738,407 - 23,742,591 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006167   ⟹   NP_006158
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,678,697 - 23,682,938 (-)NCBI
GRCh37823,536,206 - 23,540,450 (-)ENTREZGENE
Build 36823,592,173 - 23,596,395 (-)NCBI Archive
HuRef822,081,521 - 22,085,754 (-)ENTREZGENE
CHM1_1823,738,407 - 23,742,639 (-)NCBI
Sequence:
RefSeq Acc Id: NR_046072
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,678,697 - 23,682,938 (-)NCBI
GRCh37823,536,206 - 23,540,450 (-)NCBI
HuRef822,081,521 - 22,085,754 (-)NCBI
CHM1_1823,738,407 - 23,742,623 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006158   ⟸   NM_006167
- Peptide Label: isoform 1
- UniProtKB: Q99801 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243268   ⟸   NM_001256339
- Peptide Label: isoform 2
- UniProtKB: Q99801 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000429729   ⟸   ENST00000523261
RefSeq Acc Id: ENSP00000370253   ⟸   ENST00000380871

Promoters
RGD ID:6806916
Promoter ID:HG_KWN:60933
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   Lymphoblastoid
Transcripts:ENST00000300332,   OTTHUMT00000215141,   UC003XDT.1,   UC003XDV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36823,595,969 - 23,596,469 (-)MPROMDB
RGD ID:7212883
Promoter ID:EPDNEW_H12187
Type:multiple initiation site
Name:NKX3-1_1
Description:NK3 homeobox 1
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
GRCh38823,682,935 - 23,682,995EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autistic disorder of childhood onset [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.3-21.2(chr8:22946697-25125997)x3 copy number gain See cases [RCV000137878] Chr8:22946697..25125997 [GRCh38]
Chr8:22804210..24983512 [GRCh37]
Chr8:22860155..25039429 [NCBI36]
Chr8:8p21.3-21.2
uncertain significance
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NC_000008.10:g.23528632_23569976dup duplication Primary amenorrhea [RCV000754440] Chr8:23671119..23712463 [GRCh38]
Chr8:23528632..23569976 [GRCh37]
Chr8:8p21.2
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_006167.4(NKX3-1):c.594G>A (p.Pro198=) single nucleotide variant not provided [RCV000894447] Chr8:23681332 [GRCh38]
Chr8:23538845 [GRCh37]
Chr8:8p21.2
benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_006167.4(NKX3-1):c.531T>C (p.Tyr177=) single nucleotide variant not provided [RCV000880621] Chr8:23681395 [GRCh38]
Chr8:23538908 [GRCh37]
Chr8:8p21.2
benign
GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1 copy number loss not provided [RCV000849161] Chr8:21662847..24199218 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1 copy number loss not provided [RCV000847074] Chr8:22442548..27369334 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
GRCh37/hg19 8p21.2(chr8:23501519-24907990)x1 copy number loss not provided [RCV000847303] Chr8:23501519..24907990 [GRCh37]
Chr8:8p21.2
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormality of the fetal cardiovascular system [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7838 AgrOrtholog
COSMIC NKX3-1 COSMIC
Ensembl Genes ENSG00000167034 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000370253 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429729 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000380871 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000523261 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000167034 GTEx
HGNC ID HGNC:7838 ENTREZGENE
Human Proteome Map NKX3-1 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot
  Homeobox_CS UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot
  Homeobox_metazoa UniProtKB/Swiss-Prot
KEGG Report hsa:4824 UniProtKB/Swiss-Prot
NCBI Gene 4824 ENTREZGENE
OMIM 602041 OMIM
Pfam Homeodomain UniProtKB/Swiss-Prot
PharmGKB PA31645 PharmGKB
PRINTS HOMEOBOX UniProtKB/Swiss-Prot
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot
  HOMEOBOX_2 UniProtKB/Swiss-Prot
SMART HOX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
UniProt NKX31_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary O15465 UniProtKB/Swiss-Prot
  Q9H2P4 UniProtKB/Swiss-Prot
  Q9H2P5 UniProtKB/Swiss-Prot
  Q9H2P6 UniProtKB/Swiss-Prot
  Q9H2P7 UniProtKB/Swiss-Prot
  Q9HBG0 UniProtKB/Swiss-Prot