PITX3 (paired like homeodomain 3) - Rat Genome Database
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Gene: PITX3 (paired like homeodomain 3) Homo sapiens
Analyze
Symbol: PITX3
Name: paired like homeodomain 3
RGD ID: 732297
HGNC Page HGNC
Description: Exhibits sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including lens development in camera-type eye; nervous system development; and positive regulation of transcription by RNA polymerase II. Predicted to localize to nuclear chromatin. Implicated in anterior segment dysgenesis; anterior segment dysgenesis 1; cataract; cataract 11 multiple types; and cataract 9 multiple types.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: anterior segment mesenchymal dysgenesis; ASGD1; ASMD; ASOD; CTPP4; CTRCT11; homeobox protein PITX3; MGC12766; paired-like homeodomain 3; pituitary homeobox 3; PTX3
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 Ensembl10102,230,186 - 102,241,512 (-)EnsemblGRCh38hg38GRCh38
GRCh3810102,230,189 - 102,241,512 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710103,989,946 - 104,001,231 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610103,979,936 - 103,991,221 (-)NCBINCBI36hg18NCBI36
Build 3410103,979,935 - 103,991,221NCBI
Celera1097,730,869 - 97,742,153 (-)NCBI
Cytogenetic Map10q24.32NCBI
HuRef1097,622,237 - 97,633,522 (-)NCBIHuRef
CHM1_110104,273,459 - 104,284,755 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
neuronal cell body  (IEA)
nucleus  (IBA,ISS)

References

Additional References at PubMed
PMID:6801987   PMID:11994226   PMID:12477932   PMID:15286169   PMID:15489334   PMID:16272057   PMID:16477036   PMID:16636655   PMID:17017509   PMID:17888164   PMID:17905480   PMID:18420308  
PMID:19058789   PMID:19144721   PMID:19204726   PMID:19274049   PMID:19345444   PMID:19394114   PMID:20301552   PMID:20376326   PMID:20468068   PMID:20570600   PMID:21138504   PMID:21368136  
PMID:21469209   PMID:21524731   PMID:21565251   PMID:21633712   PMID:21836522   PMID:21873635   PMID:22037506   PMID:22103961   PMID:22223473   PMID:22309633   PMID:22411443   PMID:22429667  
PMID:23694789   PMID:24172139   PMID:24394914   PMID:24431302   PMID:24525476   PMID:24555714   PMID:27145793   PMID:27708722   PMID:28174607   PMID:28249924   PMID:28473536   PMID:28991698  
PMID:29405783   PMID:30816539   PMID:30894134  


Genomics

Comparative Map Data
PITX3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl10102,230,186 - 102,241,512 (-)EnsemblGRCh38hg38GRCh38
GRCh3810102,230,189 - 102,241,512 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710103,989,946 - 104,001,231 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610103,979,936 - 103,991,221 (-)NCBINCBI36hg18NCBI36
Build 3410103,979,935 - 103,991,221NCBI
Celera1097,730,869 - 97,742,153 (-)NCBI
Cytogenetic Map10q24.32NCBI
HuRef1097,622,237 - 97,633,522 (-)NCBIHuRef
CHM1_110104,273,459 - 104,284,755 (-)NCBICHM1_1
Pitx3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391946,123,720 - 46,136,764 (-)NCBIGRCm39mm39
GRCm381946,135,281 - 46,148,325 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1946,135,685 - 46,148,326 (-)EnsemblGRCm38mm10GRCm38
MGSCv371946,210,175 - 46,222,815 (-)NCBIGRCm37mm9NCBIm37
MGSCv361946,188,996 - 46,201,636 (-)NCBImm8
Celera1946,899,486 - 46,912,129 (-)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1938.75NCBI
Pitx3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01265,886,766 - 265,899,947 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1265,887,230 - 265,899,958 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01273,317,125 - 273,330,306 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41251,355,785 - 251,368,502 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11251,616,353 - 251,629,068 (-)NCBI
Celera1240,784,495 - 240,797,213 (-)NCBICelera
Cytogenetic Map1q54NCBI
Pitx3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554858,130,244 - 8,140,292 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554858,130,244 - 8,140,292 (+)NCBIChiLan1.0ChiLan1.0
PITX3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.110102,301,528 - 102,302,943 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01098,833,330 - 98,846,292 (-)NCBIMhudiblu_PPA_v0panPan3
PITX3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2814,761,094 - 14,762,716 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12814,760,741 - 14,775,584 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Pitx3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366003,607,883 - 3,619,538 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PITX3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14113,230,965 - 113,241,360 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114113,230,194 - 113,241,393 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214123,084,113 - 123,095,511 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PITX3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1995,266,257 - 95,278,333 (-)NCBI
ChlSab1.1 Ensembl995,266,582 - 95,268,139 (-)Ensembl
Pitx3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248311,649,585 - 1,651,729 (-)NCBI

Position Markers
Pitx3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710103,990,647 - 103,990,857UniSTSGRCh37
Build 3610103,980,637 - 103,980,847RGDNCBI36
HuRef1097,622,938 - 97,623,148UniSTS
UniSTS:144187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710103,990,647 - 103,990,858UniSTSGRCh37
Build 3610103,980,637 - 103,980,848RGDNCBI36
HuRef1097,622,938 - 97,623,149UniSTS
SHGC-147498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710103,996,562 - 103,996,833UniSTSGRCh37
Build 3610103,986,552 - 103,986,823RGDNCBI36
Celera1097,737,484 - 97,737,755RGD
Cytogenetic Map10q24.32UniSTS
HuRef1097,628,853 - 97,629,124UniSTS
TNG Radiation Hybrid Map1049334.0UniSTS
D1Bda64  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710103,990,640 - 103,991,421UniSTSGRCh37
Celera1097,731,563 - 97,732,343UniSTS
HuRef1097,622,931 - 97,623,712UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR133Bhsa-miR-133bMirtarbaseexternal_infoFACS//Luciferase reporter assayFunctional MTI17761882
MIR133Bhsa-miR-133bMirecordsexternal_infoNANA17761882

Predicted Target Of
Summary Value
Count of predictions:831
Count of miRNA genes:374
Interacting mature miRNAs:426
Transcripts:ENST00000370002, ENST00000539804
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
Medium 1 1 295 299 17 4 3 1 1 295
Low 31 361 85 34 43 12 752 801 168 61 474 166 29 1 182 536
Below cutoff 1347 1568 922 220 567 122 2178 777 2322 155 554 996 105 860 1216 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF041339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM822817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR091850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU342024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX688842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX688843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX688844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370002   ⟹   ENSP00000359019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10102,230,189 - 102,241,512 (-)Ensembl
RefSeq Acc Id: ENST00000539804   ⟹   ENSP00000439383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10102,230,186 - 102,232,083 (-)Ensembl
RefSeq Acc Id: NM_005029   ⟹   NP_005020
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,230,189 - 102,241,512 (-)NCBI
GRCh3710103,989,946 - 104,001,231 (-)ENTREZGENE
Build 3610103,979,936 - 103,991,221 (-)NCBI Archive
HuRef1097,622,237 - 97,633,522 (-)ENTREZGENE
CHM1_110104,273,459 - 104,284,755 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_005020 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC24502 (Get FASTA)   NCBI Sequence Viewer  
  AAH11642 (Get FASTA)   NCBI Sequence Viewer  
  AJF45881 (Get FASTA)   NCBI Sequence Viewer  
  AJF45882 (Get FASTA)   NCBI Sequence Viewer  
  AJF45883 (Get FASTA)   NCBI Sequence Viewer  
  AJF45884 (Get FASTA)   NCBI Sequence Viewer  
  AJF45885 (Get FASTA)   NCBI Sequence Viewer  
  AJF45886 (Get FASTA)   NCBI Sequence Viewer  
  AJF45887 (Get FASTA)   NCBI Sequence Viewer  
  AJF45888 (Get FASTA)   NCBI Sequence Viewer  
  AJF45889 (Get FASTA)   NCBI Sequence Viewer  
  AJF45890 (Get FASTA)   NCBI Sequence Viewer  
  AJF45891 (Get FASTA)   NCBI Sequence Viewer  
  AJF45892 (Get FASTA)   NCBI Sequence Viewer  
  AJF45893 (Get FASTA)   NCBI Sequence Viewer  
  AJF45894 (Get FASTA)   NCBI Sequence Viewer  
  AJF45895 (Get FASTA)   NCBI Sequence Viewer  
  AJF45896 (Get FASTA)   NCBI Sequence Viewer  
  AJF45897 (Get FASTA)   NCBI Sequence Viewer  
  AJF45898 (Get FASTA)   NCBI Sequence Viewer  
  AJP06693 (Get FASTA)   NCBI Sequence Viewer  
  AJP06694 (Get FASTA)   NCBI Sequence Viewer  
  AJP06695 (Get FASTA)   NCBI Sequence Viewer  
  AJP06696 (Get FASTA)   NCBI Sequence Viewer  
  AJP06697 (Get FASTA)   NCBI Sequence Viewer  
  AJP06698 (Get FASTA)   NCBI Sequence Viewer  
  AJP06699 (Get FASTA)   NCBI Sequence Viewer  
  AJP06700 (Get FASTA)   NCBI Sequence Viewer  
  AMM45331 (Get FASTA)   NCBI Sequence Viewer  
  ASU06387 (Get FASTA)   NCBI Sequence Viewer  
  ASU06388 (Get FASTA)   NCBI Sequence Viewer  
  ASU06389 (Get FASTA)   NCBI Sequence Viewer  
  EAW49709 (Get FASTA)   NCBI Sequence Viewer  
  EAW49710 (Get FASTA)   NCBI Sequence Viewer  
  O75364 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_005020   ⟸   NM_005029
- UniProtKB: O75364 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000359019   ⟸   ENST00000370002
RefSeq Acc Id: ENSP00000439383   ⟸   ENST00000539804
Protein Domains
Homeobox   OAR

Promoters
RGD ID:7218503
Promoter ID:EPDNEW_H14998
Type:initiation region
Name:PITX3_1
Description:paired like homeodomain 3
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
GRCh3810102,241,509 - 102,241,569EPDNEW
RGD ID:6814482
Promoter ID:HG_XEF:1091
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:NM_001085743,   NM_001123712,   NM_019247,   NM_205675
Position:
Human AssemblyChrPosition (strand)Source
Build 3610103,981,501 - 103,982,001 (-)MPROMDB
RGD ID:6787992
Promoter ID:HG_KWN:10969
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000050031
Position:
Human AssemblyChrPosition (strand)Source
Build 3610103,990,811 - 103,991,607 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
PITX3, 17-BP DUP, NT657 duplication ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES [RCV000007349]|Cataract 11, posterior polar [RCV000043533] Chr10:10q25 pathogenic
NM_005029.4(PITX3):c.38G>A (p.Ser13Asn) single nucleotide variant Cataract 11 [RCV000007351] Chr10:102232043 [GRCh38]
Chr10:103991800 [GRCh37]
Chr10:10q24.32
pathogenic
NM_005029.4(PITX3):c.650del (p.Gly217fs) deletion Cataract 11, posterior polar [RCV000043531]|Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities [RCV000043534] Chr10:102230773 [GRCh38]
Chr10:103990530 [GRCh37]
Chr10:10q24.32
pathogenic
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
NM_005029.4(PITX3):c.285C>T (p.Ile95=) single nucleotide variant not provided [RCV000828394]|not specified [RCV000177223] Chr10:102231624 [GRCh38]
Chr10:103991381 [GRCh37]
Chr10:10q24.32
benign
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
NM_005029.4(PITX3):c.640_656del (p.Ala214fs) deletion Anterior segment dysgenesis 1 [RCV000545169] Chr10:102230767..102230783 [GRCh38]
Chr10:103990524..103990540 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.640_656dup (p.Gly220fs) duplication Anterior segment dysgenesis 1 [RCV000547813]|not provided [RCV000627511] Chr10:102230766..102230767 [GRCh38]
Chr10:103990523..103990524 [GRCh37]
Chr10:10q24.32
pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
NM_005029.4(PITX3):c.42T>C (p.Pro14=) single nucleotide variant not provided [RCV000329890] Chr10:102232039 [GRCh38]
Chr10:103991796 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.414G>T (p.Gly138=) single nucleotide variant Anterior segment dysgenesis 1 [RCV000532688] Chr10:102231009 [GRCh38]
Chr10:103990766 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.646C>T (p.Gln216Ter) single nucleotide variant not provided [RCV000414049] Chr10:102230777 [GRCh38]
Chr10:103990534 [GRCh37]
Chr10:10q24.32
likely pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss PARP Inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1
pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss PARP Inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1 copy number loss not provided [RCV000683260] Chr10:103891057..105339973 [GRCh37]
Chr10:10q24.32-24.33
likely pathogenic
NM_005029.4(PITX3):c.388A>T (p.Lys130Ter) single nucleotide variant Anterior segment dysgenesis 1 [RCV000707292] Chr10:102231035 [GRCh38]
Chr10:103990792 [GRCh37]
Chr10:10q24.32
uncertain significance
GRCh37/hg19 10q24.32(chr10:103984060-103999784)x3 copy number gain not provided [RCV000737290] Chr10:103984060..103999784 [GRCh37]
Chr10:10q24.32
benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_005029.4(PITX3):c.762C>A (p.Tyr254Ter) single nucleotide variant not provided [RCV000760543] Chr10:102230661 [GRCh38]
Chr10:103990418 [GRCh37]
Chr10:10q24.32
likely pathogenic
NM_005029.4(PITX3):c.726_728CGC[6] (p.Ala250dup) microsatellite Anterior segment dysgenesis 1 [RCV000824298] Chr10:102230682..102230683 [GRCh38]
Chr10:103990439..103990440 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.285C>A (p.Ile95=) single nucleotide variant not provided [RCV000830831] Chr10:102231624 [GRCh38]
Chr10:103991381 [GRCh37]
Chr10:10q24.32
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9006 AgrOrtholog
COSMIC PITX3 COSMIC
Ensembl Genes ENSG00000107859 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000359019 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000439383 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000370002 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000539804 UniProtKB/Swiss-Prot
GTEx ENSG00000107859 GTEx
HGNC ID HGNC:9006 ENTREZGENE
Human Proteome Map PITX3 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_CS UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_Pitx/unc30 UniProtKB/Swiss-Prot
  OAR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5309 UniProtKB/Swiss-Prot
NCBI Gene 5309 ENTREZGENE
OMIM 107250 OMIM
  602669 OMIM
  610623 OMIM
Pfam Homeodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33340 PharmGKB
PIRSF Homeobox_protein_Pitx/Unc30 UniProtKB/Swiss-Prot
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot
  HOMEOBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.137568 ENTREZGENE
UniProt A0A0B5HBE9_HUMAN UniProtKB/TrEMBL
  A0A0B5HBF7_HUMAN UniProtKB/TrEMBL
  A0A0B5HBG5_HUMAN UniProtKB/TrEMBL
  A0A0B5HFC0_HUMAN UniProtKB/TrEMBL
  A0A0B5HFC8_HUMAN UniProtKB/TrEMBL
  A0A0B5HFD3_HUMAN UniProtKB/TrEMBL
  A0A0B5HFD9_HUMAN UniProtKB/TrEMBL
  A0A0B5HLA6_HUMAN UniProtKB/TrEMBL
  A0A0B5HLB1_HUMAN UniProtKB/TrEMBL
  A0A0B5HLB6_HUMAN UniProtKB/TrEMBL
  A0A0B5HLC0_HUMAN UniProtKB/TrEMBL
  A0A0B5HP26_HUMAN UniProtKB/TrEMBL
  A0A0B5HP33_HUMAN UniProtKB/TrEMBL
  A0A0B5HP39_HUMAN UniProtKB/TrEMBL
  A0A0B5HP44_HUMAN UniProtKB/TrEMBL
  A0A0B5HSU7_HUMAN UniProtKB/TrEMBL
  A0A0B5HSV2_HUMAN UniProtKB/TrEMBL
  A0A0B5HSV6_HUMAN UniProtKB/TrEMBL
  A0A0C5G2Q9_HUMAN UniProtKB/TrEMBL
  A0A0C5G9P0_HUMAN UniProtKB/TrEMBL
  A0A0C5G9P5_HUMAN UniProtKB/TrEMBL
  A0A0C5GCA6_HUMAN UniProtKB/TrEMBL
  A0A0C5GCA9_HUMAN UniProtKB/TrEMBL
  A0A0C5GDS1_HUMAN UniProtKB/TrEMBL
  A0A0C5GDS2_HUMAN UniProtKB/TrEMBL
  A0A0C5GPM3_HUMAN UniProtKB/TrEMBL
  A0A127AXK3_HUMAN UniProtKB/TrEMBL
  A0A223LNB8_HUMAN UniProtKB/TrEMBL
  A0A223LNB9_HUMAN UniProtKB/TrEMBL
  A0A223LNP9_HUMAN UniProtKB/TrEMBL
  D3DR82_HUMAN UniProtKB/TrEMBL
  O75364 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5VZL2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 PITX3  paired like homeodomain 3  ASMD  anterior segment mesenchymal dysgenesis  Data Merged 737654 PROVISIONAL
2016-02-02 PITX3  paired like homeodomain 3    paired-like homeodomain 3  Symbol and/or name change 5135510 APPROVED
2011-08-17 PITX3  paired-like homeodomain 3  PITX3  paired-like homeodomain 3  Symbol and/or name change 5135510 APPROVED