PITX2 (paired like homeodomain 2) - Rat Genome Database

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Gene: PITX2 (paired like homeodomain 2) Homo sapiens
Analyze
Symbol: PITX2
Name: paired like homeodomain 2
RGD ID: 731390
HGNC Page HGNC
Description: Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; phosphoprotein binding activity; and protein homodimerization activity. Involved in animal organ development and regulation of transcription by RNA polymerase II. Acts upstream of or within regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription regulator complex. Implicated in Arts syndrome; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 1; anterior segment dysgenesis 4; and ring dermoid of cornea.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: all1-responsive gene 1; ALL1-responsive protein ARP1; ARP1; ASGD4; Brx1; homeobox protein PITX2; IDG2; IGDS; IGDS2; IHG2; IRID2; MGC111022; MGC20144; Otlx2; paired-like homeodomain 2; paired-like homeodomain transcription factor 2; pituitary homeo box 2; pituitary homeobox 2; PTX2; RGS; RIEG; rieg bicoid-related homeobox transcription factor 1; RIEG1; RS; solurshin
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 Ensembl4110,617,423 - 110,642,123 (-)EnsemblGRCh38hg38GRCh38
GRCh384110,617,423 - 110,642,123 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh374111,538,579 - 111,563,279 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364111,758,028 - 111,777,957 (-)NCBINCBI36hg18NCBI36
Build 344111,896,185 - 111,916,112NCBI
Celera4108,832,403 - 108,852,329 (-)NCBI
Cytogenetic Map4q25NCBI
HuRef4107,270,120 - 107,294,817 (-)NCBIHuRef
CHM1_14111,515,486 - 111,540,182 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure morphogenesis  (IBA,ISO)
animal organ morphogenesis  (ISO)
atrial cardiac muscle tissue morphogenesis  (ISO)
atrioventricular valve development  (ISO)
brain development  (ISO)
branching involved in blood vessel morphogenesis  (ISO)
camera-type eye development  (IMP)
cardiac muscle cell differentiation  (ISO)
cardiac muscle tissue development  (ISO)
cardiac neural crest cell migration involved in outflow tract morphogenesis  (ISS)
cell proliferation involved in outflow tract morphogenesis  (ISO,ISS)
deltoid tuberosity development  (IMP)
determination of left/right symmetry  (ISO,ISS)
digestive system development  (ISO)
embryonic camera-type eye development  (ISO)
embryonic digestive tract morphogenesis  (ISO)
embryonic heart tube left/right pattern formation  (ISS)
embryonic hindlimb morphogenesis  (ISO)
endodermal digestive tract morphogenesis  (ISO)
extraocular skeletal muscle development  (ISO)
female gonad development  (ISO)
hair cell differentiation  (IC)
heart development  (ISO)
hypothalamus cell migration  (ISO)
in utero embryonic development  (ISO)
iris morphogenesis  (IMP)
left lung morphogenesis  (ISO)
left/right axis specification  (ISS)
lung development  (ISO)
male gonad development  (ISO)
myoblast fusion  (ISO)
negative regulation of transcription by RNA polymerase II  (IDA,IEA)
neuron differentiation  (ISO)
neuron migration  (ISO)
odontogenesis  (IMP,ISO)
odontogenesis of dentin-containing tooth  (ISO)
pituitary gland development  (ISO)
positive regulation of DNA binding  (ISO)
positive regulation of myoblast proliferation  (ISO)
positive regulation of transcription by RNA polymerase II  (IDA,ISO)
positive regulation of transcription, DNA-templated  (ISO)
prolactin secreting cell differentiation  (TAS)
pulmonary myocardium development  (ISO)
pulmonary vein morphogenesis  (ISO)
regulation of cell migration  (ISO)
regulation of cell population proliferation  (ISO)
regulation of transcription by RNA polymerase II  (IBA,IDA,IEA)
regulation of transcription, DNA-templated  (IDA)
response to hormone  (ISO)
response to vitamin A  (ISO)
skeletal muscle tissue development  (ISO)
somatotropin secreting cell differentiation  (TAS)
spleen development  (ISS)
subthalamic nucleus development  (ISO)
superior vena cava morphogenesis  (ISO)
vascular associated smooth muscle cell differentiation  (ISO)
vasculogenesis  (ISO)
ventricular cardiac muscle cell development  (ISO)
ventricular septum morphogenesis  (ISO)
Wnt signaling pathway  (ISO)

Cellular Component
chromatin  (ISA)
cytoplasm  (ISO)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA,ISO)
transcription regulator complex  (IDA)

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

Human Phenotype
Abnormal anterior chamber morphology  (IAGP)
Abnormal conjunctiva morphology  (IAGP)
Abnormal cornea morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of the abdominal wall  (IAGP)
Abnormality of the corneal limbus  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormally prominent line of Schwalbe  (IAGP)
Amblyopia  (IAGP)
Anal atresia  (IAGP)
Anal stenosis  (IAGP)
Aniridia  (IAGP)
Anterior synechiae of the anterior chamber  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Autosomal dominant inheritance  (IAGP)
Cataract  (IAGP)
Central opacification of the cornea  (IAGP)
Conjunctival dermolipoma  (IAGP)
Corneal astigmatism  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental glaucoma  (IAGP)
Everted lower lip vermilion  (IAGP)
Glaucoma  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Heterogeneous  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the iris  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplastic iris stroma  (IAGP)
Hypospadias  (IAGP)
Iris hypopigmentation  (IAGP)
Megalocornea  (IAGP)
Microcornea  (IAGP)
Microdontia  (IAGP)
Midface retrusion  (IAGP)
Nystagmus  (IAGP)
Ocular anterior segment dysgenesis  (IAGP)
Peters anomaly  (IAGP)
Polycoria  (IAGP)
Posterior embryotoxon  (IAGP)
Prominent forehead  (IAGP)
Prominent supraorbital ridges  (IAGP)
Prostate cancer  (IAGP)
Redundant skin  (IAGP)
Rieger anomaly  (IAGP)
Short philtrum  (IAGP)
Strabismus  (IAGP)
Subcapsular cataract  (IAGP)
Telecanthus  (IAGP)
Thin upper lip vermilion  (IAGP)
Thinning of Descemet membrane  (IAGP)
Variable expressivity  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:1303248   PMID:7581385   PMID:8942889   PMID:8944018   PMID:9437321   PMID:9539779   PMID:9618168   PMID:9685346   PMID:9708732   PMID:10051017   PMID:10372733   PMID:11157981  
PMID:11301317   PMID:11487566   PMID:11763998   PMID:11774072   PMID:11821690   PMID:11948188   PMID:12130547   PMID:12223489   PMID:12381896   PMID:12464179   PMID:12477932   PMID:12612071  
PMID:12732450   PMID:14630904   PMID:14975719   PMID:14985297   PMID:15255117   PMID:15342556   PMID:15385555   PMID:15466416   PMID:15489334   PMID:15591271   PMID:15728254   PMID:15895993  
PMID:16274491   PMID:16449236   PMID:16498627   PMID:16638984   PMID:16834779   PMID:16884686   PMID:16936096   PMID:17065505   PMID:17167399   PMID:17197537   PMID:17486624   PMID:17558846  
PMID:17603472   PMID:17850355   PMID:17965955   PMID:18312615   PMID:18331556   PMID:18339718   PMID:18616618   PMID:18711169   PMID:18775326   PMID:18946986   PMID:19174163   PMID:19218601  
PMID:19233404   PMID:19251162   PMID:19274049   PMID:19513095   PMID:19597492   PMID:19801652   PMID:19913121   PMID:19954729   PMID:20022124   PMID:20170812   PMID:20173747   PMID:20211142  
PMID:20301552   PMID:20332099   PMID:20372070   PMID:20478579   PMID:20628086   PMID:20634891   PMID:20875405   PMID:20881290   PMID:20881294   PMID:20978111   PMID:21221769   PMID:21278591  
PMID:21282332   PMID:21414601   PMID:21427120   PMID:21479692   PMID:21498098   PMID:21511879   PMID:21531708   PMID:21574119   PMID:21617755   PMID:21803613   PMID:21810944   PMID:21837767  
PMID:21873635   PMID:22224469   PMID:22495974   PMID:22544366   PMID:22555092   PMID:22569110   PMID:22615897   PMID:22735262   PMID:23041239   PMID:23042660   PMID:23088713   PMID:23132660  
PMID:23229549   PMID:23250740   PMID:23354914   PMID:23505501   PMID:23611745   PMID:23913021   PMID:23975681   PMID:23983605   PMID:24002705   PMID:24003428   PMID:24083357   PMID:24127533  
PMID:24162257   PMID:24262325   PMID:24333117   PMID:24390743   PMID:24465984   PMID:24473555   PMID:24486544   PMID:24595098   PMID:24604414   PMID:24773581   PMID:24927531   PMID:25044936  
PMID:25122764   PMID:25124216   PMID:25241761   PMID:25250569   PMID:25339043   PMID:25391453   PMID:25402584   PMID:25443231   PMID:25494715   PMID:25609649   PMID:25704760   PMID:25893250  
PMID:26186194   PMID:26240509   PMID:26267381   PMID:26298390   PMID:26400846   PMID:26657035   PMID:26714926   PMID:26783232   PMID:26848620   PMID:27009473   PMID:27173224   PMID:27520585  
PMID:27697592   PMID:27708722   PMID:27716615   PMID:27866707   PMID:27939865   PMID:28298639   PMID:28427903   PMID:28473536   PMID:28513611   PMID:28514442   PMID:28596592   PMID:28617833  
PMID:28700487   PMID:28911203   PMID:28986522   PMID:29121437   PMID:29328369   PMID:29506241   PMID:29580650   PMID:29664630   PMID:29800783   PMID:29844126   PMID:29939776   PMID:30025446  
PMID:30110000   PMID:30177054   PMID:30353147   PMID:30392061   PMID:30457409   PMID:30558760   PMID:30657791   PMID:30742940   PMID:30903445   PMID:31039368   PMID:31185933   PMID:31378929  
PMID:32295643   PMID:32296183   PMID:32400113   PMID:32606567   PMID:32814717   PMID:33018479   PMID:33231930   PMID:33306668   PMID:33492563   PMID:33514068   PMID:34299303  


Genomics

Comparative Map Data
PITX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4110,617,423 - 110,642,123 (-)EnsemblGRCh38hg38GRCh38
GRCh384110,617,423 - 110,642,123 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh374111,538,579 - 111,563,279 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364111,758,028 - 111,777,957 (-)NCBINCBI36hg18NCBI36
Build 344111,896,185 - 111,916,112NCBI
Celera4108,832,403 - 108,852,329 (-)NCBI
Cytogenetic Map4q25NCBI
HuRef4107,270,120 - 107,294,817 (-)NCBIHuRef
CHM1_14111,515,486 - 111,540,182 (-)NCBICHM1_1
Pitx2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393128,993,527 - 129,013,243 (+)NCBIGRCm39mm39
GRCm39 Ensembl3128,993,527 - 129,013,240 (+)Ensembl
GRCm383129,199,878 - 129,219,594 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3129,199,878 - 129,219,591 (+)EnsemblGRCm38mm10GRCm38
MGSCv373128,902,836 - 128,922,509 (+)NCBIGRCm37mm9NCBIm37
MGSCv363129,191,965 - 129,211,613 (+)NCBImm8
Celera3135,706,515 - 135,726,130 (+)NCBICelera
Cytogenetic Map3G3NCBI
cM Map357.84NCBI
Pitx2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22217,717,738 - 217,737,293 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl2217,717,693 - 217,737,293 (+)Ensembl
Rnor_6.02233,602,732 - 233,621,059 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2233,602,732 - 233,621,129 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02252,929,195 - 252,948,179 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42226,581,170 - 226,601,319 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12226,567,811 - 226,587,999 (+)NCBI
Celera2210,013,296 - 210,033,592 (+)NCBICelera
Cytogenetic Map2q42NCBI
Pitx2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545715,803,219 - 15,823,310 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545715,803,493 - 15,823,193 (+)NCBIChiLan1.0ChiLan1.0
PITX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14113,676,846 - 113,696,518 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v04103,112,624 - 103,137,356 (-)NCBIMhudiblu_PPA_v0panPan3
PITX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13230,710,161 - 30,730,162 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3230,710,685 - 30,730,273 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3211,306,508 - 11,326,539 (+)NCBI
ROS_Cfam_1.03230,931,178 - 30,951,191 (-)NCBI
UMICH_Zoey_3.13230,916,988 - 30,937,021 (-)NCBI
UNSW_CanFamBas_1.03230,667,533 - 30,687,592 (-)NCBI
UU_Cfam_GSD_1.0329,167,168 - 9,187,192 (+)NCBI
Pitx2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530110,214,001 - 10,237,701 (+)NCBI
SpeTri2.0NW_0049365631,713,294 - 1,732,431 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PITX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8111,698,664 - 111,723,298 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18111,697,364 - 111,723,295 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28119,906,708 - 119,926,114 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PITX2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1758,501,669 - 58,526,413 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl758,501,559 - 58,507,318 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603737,182,289 - 37,203,030 (-)NCBIVero_WHO_p1.0
Pitx2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248384,872,279 - 4,889,780 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-50188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374111,538,696 - 111,538,823UniSTSGRCh37
Build 364111,758,145 - 111,758,272RGDNCBI36
Celera4108,832,520 - 108,832,647RGD
Cytogenetic Map4q25UniSTS
HuRef4107,270,237 - 107,270,364UniSTS
TNG Radiation Hybrid Map468575.0UniSTS
PITX2_380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374111,538,572 - 111,539,434UniSTSGRCh37
Build 364111,758,021 - 111,758,883RGDNCBI36
Celera4108,832,396 - 108,833,258RGD
HuRef4107,270,113 - 107,270,975UniSTS
D4S3305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374111,538,692 - 111,538,823UniSTSGRCh37
Build 364111,758,141 - 111,758,272RGDNCBI36
Celera4108,832,516 - 108,832,647RGD
Cytogenetic Map4q25UniSTS
HuRef4107,270,233 - 107,270,364UniSTS
Pitx2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374111,539,554 - 111,539,787UniSTSGRCh37
Celera4108,833,378 - 108,833,611UniSTS
HuRef4107,271,095 - 107,271,328UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2788
Count of miRNA genes:893
Interacting mature miRNAs:1054
Transcripts:ENST00000306732, ENST00000354925, ENST00000355080, ENST00000394595, ENST00000394598, ENST00000511837, ENST00000511990, ENST00000556049, ENST00000557119, ENST00000607868
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.


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
High
Medium 318 6 226 38 2 5 647 911 245 34 30 27 34 621 1
Low 1103 70 99 150 260 24 935 815 207 111 706 189 138 1 51 367 5
Below cutoff 748 1953 823 172 741 174 2096 395 1610 168 552 873 1 928 1343

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC017068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF048720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF048721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF048722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF238048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP372081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX380370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC342807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U69961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354925   ⟹   ENSP00000347004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,617,426 - 110,642,006 (-)Ensembl
RefSeq Acc Id: ENST00000355080   ⟹   ENSP00000347192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,617,423 - 110,637,352 (-)Ensembl
RefSeq Acc Id: ENST00000394595   ⟹   ENSP00000378095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,617,423 - 110,637,011 (-)Ensembl
RefSeq Acc Id: ENST00000511837   ⟹   ENSP00000421454
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,618,209 - 110,642,123 (-)Ensembl
RefSeq Acc Id: ENST00000511990   ⟹   ENSP00000424142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,618,586 - 110,642,016 (-)Ensembl
RefSeq Acc Id: ENST00000556049
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,618,465 - 110,620,716 (-)Ensembl
RefSeq Acc Id: ENST00000557119   ⟹   ENSP00000475617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,620,277 - 110,623,051 (-)Ensembl
RefSeq Acc Id: ENST00000607868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,617,429 - 110,618,826 (-)Ensembl
RefSeq Acc Id: ENST00000613094   ⟹   ENSP00000484763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,617,428 - 110,642,123 (-)Ensembl
RefSeq Acc Id: ENST00000614423   ⟹   ENSP00000481951
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,617,428 - 110,642,123 (-)Ensembl
RefSeq Acc Id: ENST00000616641   ⟹   ENSP00000484909
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,617,428 - 110,642,123 (-)Ensembl
RefSeq Acc Id: ENST00000644488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,617,424 - 110,623,125 (-)Ensembl
RefSeq Acc Id: ENST00000644743   ⟹   ENSP00000495061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,617,423 - 110,623,077 (-)Ensembl
RefSeq Acc Id: ENST00000645131
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4110,617,423 - 110,621,734 (-)Ensembl
RefSeq Acc Id: NM_000325   ⟹   NP_000316
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,617,423 - 110,623,077 (-)NCBI
GRCh374111,538,579 - 111,563,279 (-)ENTREZGENE
Build 364111,758,028 - 111,763,703 (-)NCBI Archive
HuRef4107,270,120 - 107,294,817 (-)ENTREZGENE
CHM1_14111,515,486 - 111,521,159 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001204397   ⟹   NP_001191326
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,617,423 - 110,642,123 (-)NCBI
GRCh374111,538,579 - 111,563,279 (-)ENTREZGENE
HuRef4107,270,120 - 107,294,817 (-)ENTREZGENE
CHM1_14111,515,486 - 111,540,182 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001204398   ⟹   NP_001191327
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,617,423 - 110,642,123 (-)NCBI
GRCh374111,538,579 - 111,563,279 (-)ENTREZGENE
HuRef4107,270,120 - 107,294,817 (-)ENTREZGENE
CHM1_14111,515,486 - 111,540,182 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001204399   ⟹   NP_001191328
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,617,423 - 110,642,123 (-)NCBI
GRCh374111,538,579 - 111,563,279 (-)NCBI
HuRef4107,270,120 - 107,294,817 (-)ENTREZGENE
CHM1_14111,515,486 - 111,540,182 (-)NCBI
Sequence:
RefSeq Acc Id: NM_153426   ⟹   NP_700475
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,617,423 - 110,642,123 (-)NCBI
GRCh374111,538,579 - 111,563,279 (-)ENTREZGENE
Build 364111,758,028 - 111,777,957 (-)NCBI Archive
HuRef4107,270,120 - 107,294,817 (-)ENTREZGENE
CHM1_14111,515,486 - 111,540,182 (-)NCBI
Sequence:
RefSeq Acc Id: NM_153427   ⟹   NP_700476
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,617,423 - 110,642,123 (-)NCBI
GRCh374111,538,579 - 111,563,279 (-)ENTREZGENE
Build 364111,758,028 - 111,777,957 (-)NCBI Archive
HuRef4107,270,120 - 107,294,817 (-)ENTREZGENE
CHM1_14111,515,486 - 111,540,182 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024454090   ⟹   XP_024309858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,617,423 - 110,622,168 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001191328   ⟸   NM_001204399
- Peptide Label: isoform a
- UniProtKB: Q99697 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001191327   ⟸   NM_001204398
- Peptide Label: isoform b
- UniProtKB: Q99697 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_700476   ⟸   NM_153427
- Peptide Label: isoform a
- UniProtKB: Q99697 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_700475   ⟸   NM_153426
- Peptide Label: isoform b
- UniProtKB: Q99697 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001191326   ⟸   NM_001204397
- Peptide Label: isoform b
- UniProtKB: Q99697 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000316   ⟸   NM_000325
- Peptide Label: isoform c
- UniProtKB: Q99697 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024309858   ⟸   XM_024454090
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000475617   ⟸   ENST00000557119
RefSeq Acc Id: ENSP00000484763   ⟸   ENST00000613094
RefSeq Acc Id: ENSP00000481951   ⟸   ENST00000614423
RefSeq Acc Id: ENSP00000484909   ⟸   ENST00000616641
RefSeq Acc Id: ENSP00000424142   ⟸   ENST00000511990
RefSeq Acc Id: ENSP00000421454   ⟸   ENST00000511837
RefSeq Acc Id: ENSP00000347004   ⟸   ENST00000354925
RefSeq Acc Id: ENSP00000495061   ⟸   ENST00000644743
RefSeq Acc Id: ENSP00000347192   ⟸   ENST00000355080
RefSeq Acc Id: ENSP00000378095   ⟸   ENST00000394595
Protein Domains
Homeobox   OAR

Promoters
RGD ID:6868280
Promoter ID:EPDNEW_H7305
Type:initiation region
Name:PITX2_2
Description:paired like homeodomain 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7306  EPDNEW_H7307  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,623,071 - 110,623,131EPDNEW
RGD ID:6868282
Promoter ID:EPDNEW_H7306
Type:initiation region
Name:PITX2_1
Description:paired like homeodomain 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7305  EPDNEW_H7307  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,637,011 - 110,637,071EPDNEW
RGD ID:6868284
Promoter ID:EPDNEW_H7307
Type:initiation region
Name:PITX2_3
Description:paired like homeodomain 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7305  EPDNEW_H7306  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384110,637,332 - 110,637,392EPDNEW
RGD ID:6802527
Promoter ID:HG_KWN:48919
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   Lymphoblastoid
Transcripts:OTTHUMT00000256310,   UC003IAG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364111,763,421 - 111,763,921 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000325.6(PITX2):c.206-9C>T single nucleotide variant not provided [RCV000544225]|not specified [RCV000735121] Chr4:110621378 [GRCh38]
Chr4:111542534 [GRCh37]
Chr4:4q25
benign|likely benign
NM_000325.6(PITX2):c.421A>G (p.Lys141Glu) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000023116] Chr4:110618679 [GRCh38]
Chr4:111539835 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.320T>A (p.Leu107Gln) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000008551] Chr4:110621255 [GRCh38]
Chr4:111542411 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.411+5G>C single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000008552] Chr4:110621159 [GRCh38]
Chr4:111542315 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.361A>C (p.Thr121Pro) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000008553] Chr4:110621214 [GRCh38]
Chr4:111542370 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.412-11A>G single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000008554]|not provided [RCV001574968] Chr4:110618699 [GRCh38]
Chr4:111539855 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.431G>C (p.Arg144Pro) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000008555]|Inborn genetic diseases [RCV001266803] Chr4:110618669 [GRCh38]
Chr4:111539825 [GRCh37]
Chr4:4q25
pathogenic|likely pathogenic
NM_000325.6(PITX2):c.558G>A (p.Trp186Ter) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000008556] Chr4:110618542 [GRCh38]
Chr4:111539698 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.409C>T (p.Arg137Trp) single nucleotide variant Anterior segment dysgenesis 4 [RCV000008557]|Anterior segment dysgenesis [RCV001200029] Chr4:110621166 [GRCh38]
Chr4:111542322 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.365G>A (p.Arg122His) single nucleotide variant Anterior segment dysgenesis 4 [RCV000008558]|not provided [RCV000271871] Chr4:110621210 [GRCh38]
Chr4:111542366 [GRCh37]
Chr4:4q25
pathogenic
NM_153427.2(PITX2):c.253-2A>T single nucleotide variant ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE [RCV000008559] Chr4:110618690 [GRCh38]
Chr4:111539846 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.406G>C (p.Val136Leu) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000008560] Chr4:110621169 [GRCh38]
Chr4:111542325 [GRCh37]
Chr4:4q25
pathogenic
PITX2, 21-BP DUP, NT713 duplication Axenfeld-Rieger syndrome type 1 [RCV000008561] Chr4:4q25-q26 pathogenic
NM_000325.6(PITX2):c.344G>A (p.Arg115His) single nucleotide variant Anterior segment dysgenesis [RCV001200039]|Ring dermoid of cornea [RCV000008562] Chr4:110621231 [GRCh38]
Chr4:111542387 [GRCh37]
Chr4:4q25
pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
NM_000325.6(PITX2):c.812A>T (p.Tyr271Phe) single nucleotide variant not provided [RCV000082674] Chr4:110618288 [GRCh38]
Chr4:111539444 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.46+8C>G single nucleotide variant Anterior segment dysgenesis 4 [RCV001150168]|Axenfeld-Rieger syndrome type 1 [RCV001150166]|Axenfeld-Rieger syndrome type 1 [RCV001510408]|Cataract [RCV001150169]|Hypoplasia of the iris [RCV001150171]|Irido-corneo-trabecular dysgenesis [RCV001150167]|PITX2-Related Eye Abnormalities [RCV001150170]|Ring dermoid of cornea [RCV001148596]|not specified [RCV000177412] Chr4:110632945 [GRCh38]
Chr4:111554101 [GRCh37]
Chr4:4q25
benign|likely benign
NM_153427.2(PITX2):c.46+8_46+9insTT insertion Axenfeld-Rieger syndrome type 1 [RCV001510407]|not specified [RCV000177413] Chr4:110632944..110632945 [GRCh38]
Chr4:111554100..111554101 [GRCh37]
Chr4:4q25
benign
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) single nucleotide variant Anterior segment dysgenesis 4 [RCV000266378]|Axenfeld-Rieger syndrome type 1 [RCV000372306]|Axenfeld-Rieger syndrome type 1 [RCV000871280]|Cataract [RCV000262690]|Hypoplasia of the iris [RCV000317910]|Irido-corneo-trabecular dysgenesis [RCV000360966]|PITX2-Related Eye Abnormalities [RCV000375906]|Ring dermoid of cornea [RCV000321309]|not provided [RCV001573943]|not specified [RCV000179025] Chr4:110618538 [GRCh38]
Chr4:111539694 [GRCh37]
Chr4:4q25
benign|likely benign|conflicting interpretations of pathogenicity
NM_000325.6(PITX2):c.17G>T (p.Gly6Val) single nucleotide variant not provided [RCV000173109] Chr4:110622444 [GRCh38]
Chr4:111543600 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.580G>A (p.Ala194Thr) single nucleotide variant Malignant tumor of prostate [RCV000149104] Chr4:110618520 [GRCh38]
Chr4:111539676 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.819G>A (p.Pro273=) single nucleotide variant Anterior segment dysgenesis 1 [RCV000287939]|Axenfeld-Rieger syndrome type 1 [RCV000319522]|Axenfeld-Rieger syndrome type 1 [RCV000872517]|Cataract [RCV000322891]|Hypoplasia of the iris [RCV000265687]|Irido-corneo-trabecular dysgenesis [RCV000326490]|PITX2-Related Eye Abnormalities [RCV000358077]|Ring dermoid of cornea [RCV000379862]|not specified [RCV000153700] Chr4:110618281 [GRCh38]
Chr4:111539437 [GRCh37]
Chr4:4q25
benign|likely benign|uncertain significance
NM_000325.6(PITX2):c.*454C>T single nucleotide variant Anterior segment dysgenesis 1 [RCV000290152]|Axenfeld-Rieger syndrome type 1 [RCV000987465]|Cataract [RCV000382147]|Hypoplasia of the iris [RCV000350621]|Irido-corneo-trabecular dysgenesis [RCV000392643]|PITX2-Related Eye Abnormalities [RCV000347493]|Ring dermoid of cornea [RCV000385721]|not provided [RCV000162087] Chr4:110617671 [GRCh38]
Chr4:111538827 [GRCh37]
Chr4:4q25
pathogenic|benign
NM_000325.6(PITX2):c.431G>A (p.Arg144Gln) single nucleotide variant not provided [RCV000179024] Chr4:110618669 [GRCh38]
Chr4:111539825 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.46+7_46+8insGT insertion not provided [RCV000177411] Chr4:110632945..110632946 [GRCh38]
Chr4:111554101..111554102 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.46+8delinsGTT indel not specified [RCV000177414] Chr4:110632945 [GRCh38]
Chr4:111554101 [GRCh37]
Chr4:4q25
benign|uncertain significance
NM_000325.6(PITX2):c.*176A>T single nucleotide variant Anterior segment dysgenesis 4 [RCV000374400]|Axenfeld-Rieger syndrome type 1 [RCV000371214]|Cataract [RCV000282158]|Hypoplasia of the iris [RCV000275375]|Irido-corneo-trabecular dysgenesis [RCV000332857]|PITX2-Related Eye Abnormalities [RCV000260239]|Ring dermoid of cornea [RCV000317475] Chr4:110617949 [GRCh38]
Chr4:111539105 [GRCh37]
Chr4:4q25
likely benign|uncertain significance
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) single nucleotide variant Anterior segment dysgenesis 1 [RCV000355389]|Axenfeld-Rieger syndrome type 1 [RCV000264197]|Cataract [RCV000359478]|Hypoplasia of the iris [RCV000304723]|Irido-corneo-trabecular dysgenesis [RCV000300585]|PITX2-Related Eye Abnormalities [RCV000393111]|Ring dermoid of cornea [RCV000344354] Chr4:110621351 [GRCh38]
Chr4:111542507 [GRCh37]
Chr4:4q25
benign|likely benign|uncertain significance
NM_000325.6(PITX2):c.*522T>C single nucleotide variant Anterior segment dysgenesis 4 [RCV000368807]|Axenfeld-Rieger syndrome type 1 [RCV000405718]|Cataract [RCV000311813]|Hypoplasia of the iris [RCV000315387]|Irido-corneo-trabecular dysgenesis [RCV000261052]|PITX2-Related Eye Abnormalities [RCV000408220]|Ring dermoid of cornea [RCV000353630] Chr4:110617603 [GRCh38]
Chr4:111538759 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.*471G>A single nucleotide variant Anterior segment dysgenesis 4 [RCV000264745]|Axenfeld-Rieger syndrome type 1 [RCV000356968]|Cataract [RCV000268286]|Hypoplasia of the iris [RCV000299843]|Irido-corneo-trabecular dysgenesis [RCV000325255]|PITX2-Related Eye Abnormalities [RCV000322251]|Ring dermoid of cornea [RCV000379090] Chr4:110617654 [GRCh38]
Chr4:111538810 [GRCh37]
Chr4:4q25
benign|likely benign
NM_000325.6(PITX2):c.862C>T (p.Leu288=) single nucleotide variant Anterior segment dysgenesis 4 [RCV000312236]|Axenfeld-Rieger syndrome type 1 [RCV000296840]|Cataract [RCV000369215]|Hypoplasia of the iris [RCV000408426]|Irido-corneo-trabecular dysgenesis [RCV000403804]|PITX2-Related Eye Abnormalities [RCV000354089]|Ring dermoid of cornea [RCV000262048] Chr4:110618238 [GRCh38]
Chr4:111539394 [GRCh37]
Chr4:4q25
benign|likely benign|uncertain significance
NM_000325.6(PITX2):c.639A>T (p.Ser213=) single nucleotide variant Anterior segment dysgenesis 1 [RCV000399939]|Axenfeld-Rieger syndrome type 1 [RCV000383692]|Axenfeld-Rieger syndrome type 1 [RCV001088993]|Cataract [RCV000391418]|Hypoplasia of the iris [RCV000348827]|Irido-corneo-trabecular dysgenesis [RCV000291700]|PITX2-Related Eye Abnormalities [RCV000295266]|Ring dermoid of cornea [RCV000352445]|not provided [RCV000270853] Chr4:110618461 [GRCh38]
Chr4:111539617 [GRCh37]
Chr4:4q25
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000325.6(PITX2):c.361dup (p.Thr121fs) duplication Axenfeld-Rieger syndrome type 1 [RCV000543429] Chr4:110621213..110621214 [GRCh38]
Chr4:111542369..111542370 [GRCh37]
Chr4:4q25
likely pathogenic
NM_000325.6(PITX2):c.307C>T (p.Gln103Ter) single nucleotide variant Rieger syndrome [RCV000584539] Chr4:110621268 [GRCh38]
Chr4:111542424 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.619A>G (p.Met207Val) single nucleotide variant Anterior segment dysgenesis 4 [RCV001148484]|Atrial fibrillation, familial, 1 [RCV000754825]|Axenfeld-Rieger syndrome type 1 [RCV001145720]|Axenfeld-Rieger syndrome type 1 [RCV001361410]|Cataract [RCV001148487]|Hypoplasia of the iris [RCV001148486]|Irido-corneo-trabecular dysgenesis [RCV001145721]|PITX2-Related Eye Abnormalities [RCV001145719]|Ring dermoid of cornea [RCV001148485] Chr4:110618481 [GRCh38]
Chr4:111539637 [GRCh37]
Chr4:4q25
likely pathogenic|benign|likely benign|uncertain significance
NM_000325.6(PITX2):c.*119T>A single nucleotide variant Anterior segment dysgenesis 1 [RCV000290085]|Axenfeld-Rieger syndrome type 1 [RCV000320870]|Cataract [RCV000378045]|Hypoplasia of the iris [RCV000347412]|Irido-corneo-trabecular dysgenesis [RCV000343269]|PITX2-Related Eye Abnormalities [RCV000285867]|Ring dermoid of cornea [RCV000391768] Chr4:110618006 [GRCh38]
Chr4:111539162 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.*340A>G single nucleotide variant Anterior segment dysgenesis 4 [RCV000373500]|Axenfeld-Rieger syndrome type 1 [RCV000393039]|Cataract [RCV000302839]|Hypoplasia of the iris [RCV000338713]|Irido-corneo-trabecular dysgenesis [RCV000281312]|PITX2-Related Eye Abnormalities [RCV000296524]|Ring dermoid of cornea [RCV000335094] Chr4:110617785 [GRCh38]
Chr4:111538941 [GRCh37]
Chr4:4q25
benign|likely benign|uncertain significance
NM_000325.6(PITX2):c.618T>G (p.Ser206=) single nucleotide variant Anterior segment dysgenesis 1 [RCV000364571]|Axenfeld-Rieger syndrome type 1 [RCV000269912]|Axenfeld-Rieger syndrome type 1 [RCV000532182]|Cataract [RCV000298878]|Hypoplasia of the iris [RCV000306342]|Irido-corneo-trabecular dysgenesis [RCV000405104]|PITX2-Related Eye Abnormalities [RCV000337489]|Ring dermoid of cornea [RCV000309936]|not provided [RCV001660368]|not specified [RCV000242611] Chr4:110618482 [GRCh38]
Chr4:111539638 [GRCh37]
Chr4:4q25
benign|likely benign
NM_153427.2(PITX2):c.46+485C>T single nucleotide variant not provided [RCV000372438] Chr4:110632468 [GRCh38]
Chr4:111553624 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.*370G>C single nucleotide variant Anterior segment dysgenesis 4 [RCV000361356]|Axenfeld-Rieger syndrome type 1 [RCV000388472]|Cataract [RCV000331558]|Hypoplasia of the iris [RCV000273974]|Irido-corneo-trabecular dysgenesis [RCV000270538]|PITX2-Related Eye Abnormalities [RCV000384776]|Ring dermoid of cornea [RCV000327946] Chr4:110617755 [GRCh38]
Chr4:111538911 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.*611A>G single nucleotide variant Anterior segment dysgenesis 4 [RCV000275334]|Axenfeld-Rieger syndrome type 1 [RCV000317669]|Cataract [RCV000330342]|Hypoplasia of the iris [RCV000282594]|Irido-corneo-trabecular dysgenesis [RCV000371012]|PITX2-Related Eye Abnormalities [RCV000276615]|Ring dermoid of cornea [RCV000372418] Chr4:110617514 [GRCh38]
Chr4:111538670 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.63C>T (p.Ala21=) single nucleotide variant not specified [RCV000354855] Chr4:110622398 [GRCh38]
Chr4:111543554 [GRCh37]
Chr4:4q25
benign
NM_000325.6(PITX2):c.*373_*375GTT[1] microsatellite Anterior segment dysgenesis 1 [RCV000265475]|Anterior segment dysgenesis 4 [RCV000335991]|Axenfeld-rieger anomaly [RCV000300902]|Cataract [RCV000297372]|Irido-corneo-trabecular dysgenesis [RCV000405211]|PITX2-Related Eye Abnormalities [RCV000357833]|Ring dermoid of cornea [RCV000304266] Chr4:110617747..110617749 [GRCh38]
Chr4:111538903..111538905 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.30G>C (p.Ser10=) single nucleotide variant not provided [RCV000329969] Chr4:110632969 [GRCh38]
Chr4:111554125 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.332T>C (p.Phe111Ser) single nucleotide variant Anterior segment dysgenesis 4 [RCV001269467] Chr4:110621243 [GRCh38]
Chr4:111542399 [GRCh37]
Chr4:4q25
likely pathogenic
NM_153427.2(PITX2):c.253-11del deletion Anterior segment dysgenesis 1 [RCV000387455]|Anterior segment dysgenesis 4 [RCV000292816]|Axenfeld-rieger anomaly [RCV000296761]|Cataract [RCV000347788]|Irido-corneo-trabecular dysgenesis [RCV000351635]|PITX2-Related Eye Abnormalities [RCV000393072]|Ring dermoid of cornea [RCV000308078] Chr4:110618699 [GRCh38]
Chr4:111539855 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.*264A>C single nucleotide variant Anterior segment dysgenesis 1 [RCV000402748]|Axenfeld-Rieger syndrome type 1 [RCV000367840]|Cataract [RCV000310863]|Hypoplasia of the iris [RCV000306270]|Irido-corneo-trabecular dysgenesis [RCV000364335]|PITX2-Related Eye Abnormalities [RCV000392972]|Ring dermoid of cornea [RCV000341320] Chr4:110617861 [GRCh38]
Chr4:111539017 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.*572T>C single nucleotide variant Anterior segment dysgenesis 4 [RCV000346917]|Axenfeld-Rieger syndrome type 1 [RCV000318951]|Cataract [RCV000341246]|Hypoplasia of the iris [RCV000289737]|Irido-corneo-trabecular dysgenesis [RCV000283957]|PITX2-Related Eye Abnormalities [RCV000408223]|Ring dermoid of cornea [RCV000378285] Chr4:110617553 [GRCh38]
Chr4:111538709 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.46+618C>A single nucleotide variant not specified [RCV000596257] Chr4:110632335 [GRCh38]
Chr4:111553491 [GRCh37]
Chr4:4q25
likely benign
NC_000004.12:g.(?_110618181)_(110621345_?)del deletion Axenfeld-Rieger syndrome type 1 [RCV000530817] Chr4:110618181..110621345 [GRCh38]
Chr4:111539337..111542501 [GRCh37]
Chr4:4q25
likely pathogenic
NM_000325.6(PITX2):c.215A>G (p.Lys72Arg) single nucleotide variant not provided [RCV000591120] Chr4:110621360 [GRCh38]
Chr4:111542516 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.273G>A (p.Arg91=) single nucleotide variant not provided [RCV000732125] Chr4:110621302 [GRCh38]
Chr4:111542458 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.46+475G>A single nucleotide variant not provided [RCV000735107] Chr4:110632478 [GRCh38]
Chr4:111553634 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.412-2A>G single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000560514] Chr4:110618690 [GRCh38]
Chr4:111539846 [GRCh37]
Chr4:4q25
likely pathogenic
NM_153427.2(PITX2):c.743T>G (p.Phe248Cys) single nucleotide variant not provided [RCV000723092] Chr4:110618198 [GRCh38]
Chr4:111539354 [GRCh37]
Chr4:4q25
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q25(chr4:111528916-111888401)x1 copy number loss Axenfeld-Rieger syndrome type 1 [RCV000416499] Chr4:111528916..111888401 [GRCh37]
Chr4:4q25
pathogenic
NC_000004.12:g.(?_110618049)_(110622472_?)del deletion Axenfeld-Rieger syndrome type 1 [RCV000416540] Chr4:110618049..110622472 [GRCh38]
Chr4:111539205..111543628 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.784_785del (p.Ser262fs) deletion Axenfeld-Rieger syndrome type 1 [RCV000416496] Chr4:110618315..110618316 [GRCh38]
Chr4:111539471..111539472 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.433G>C (p.Ala145Pro) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000416513] Chr4:110618667 [GRCh38]
Chr4:111539823 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.343_364del (p.Arg115fs) deletion Axenfeld-Rieger syndrome type 1 [RCV000416516] Chr4:110621211..110621232 [GRCh38]
Chr4:111542367..111542388 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.807T>A (p.Cys269Ter) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000416518] Chr4:110618293 [GRCh38]
Chr4:111539449 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.350C>T (p.Pro117Leu) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000416527] Chr4:110621225 [GRCh38]
Chr4:111542381 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.714_735del (p.Thr239fs) deletion Axenfeld-Rieger syndrome type 1 [RCV000416543] Chr4:110618365..110618386 [GRCh38]
Chr4:111539521..111539542 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.430C>G (p.Arg144Gly) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000416552] Chr4:110618670 [GRCh38]
Chr4:111539826 [GRCh37]
Chr4:4q25
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
NM_000325.6(PITX2):c.160C>T (p.Leu54=) single nucleotide variant not provided [RCV000595435] Chr4:110622301 [GRCh38]
Chr4:111543457 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.46+8C>T single nucleotide variant not provided [RCV000593966] Chr4:110632945 [GRCh38]
Chr4:111554101 [GRCh37]
Chr4:4q25
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_000325.6(PITX2):c.194C>T (p.Pro65Leu) single nucleotide variant Wolff-Parkinson-White pattern [RCV000656161] Chr4:110622267 [GRCh38]
Chr4:111543423 [GRCh37]
Chr4:4q25
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q25(chr4:111396948-111664814)x3 copy number gain not provided [RCV000743914] Chr4:111396948..111664814 [GRCh37]
Chr4:4q25
benign
GRCh37/hg19 4q25(chr4:111540657-111544304)x1 copy number loss not provided [RCV000743915] Chr4:111540657..111544304 [GRCh37]
Chr4:4q25
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
null single nucleotide variant not provided [RCV001666899] Chr4:110633113 [GRCh38]
Chr4:111554269 [GRCh37]
Chr4:4q25
benign
NM_000325.6(PITX2):c.-594C>G single nucleotide variant not provided [RCV001541775] Chr4:110623054 [GRCh38]
Chr4:111544210 [GRCh37]
Chr4:4q25
likely benign
null deletion not provided [RCV001667240] Chr4:110622847 [GRCh38]
Chr4:111544003 [GRCh37]
Chr4:4q25
benign
null single nucleotide variant not provided [RCV001667575] Chr4:110632541 [GRCh38]
Chr4:111553697 [GRCh37]
Chr4:4q25
benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV001708096] Chr4:110633038 [GRCh38]
Chr4:111554194 [GRCh37]
Chr4:4q25
benign
NM_153427.2(PITX2):c.-1311G>T single nucleotide variant Anterior segment dysgenesis 4 [RCV001144693]|Axenfeld-Rieger syndrome type 1 [RCV001144689]|Cataract [RCV001144692]|Hypoplasia of the iris [RCV001144690]|Irido-corneo-trabecular dysgenesis [RCV001144688]|PITX2-Related Eye Abnormalities [RCV001144691]|Ring dermoid of cornea [RCV001146654] Chr4:110638081 [GRCh38]
Chr4:111559237 [GRCh37]
Chr4:4q25
benign|likely benign
NM_000325.6(PITX2):c.813_814insT (p.Ala272fs) insertion not provided [RCV001090887] Chr4:110618286..110618287 [GRCh38]
Chr4:111539442..111539443 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.*696A>C single nucleotide variant Anterior segment dysgenesis 4 [RCV001147165]|Axenfeld-Rieger syndrome type 1 [RCV001147163]|Cataract [RCV001147164]|Hypoplasia of the iris [RCV001147166]|Irido-corneo-trabecular dysgenesis [RCV001147162]|PITX2-Related Eye Abnormalities [RCV001147167]|Ring dermoid of cornea [RCV001147168] Chr4:110617429 [GRCh38]
Chr4:111538585 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.495G>T (p.Pro165=) single nucleotide variant not provided [RCV000899886] Chr4:110618605 [GRCh38]
Chr4:111539761 [GRCh37]
Chr4:4q25
likely benign
NM_000325.6(PITX2):c.416G>C (p.Trp139Ser) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000801898] Chr4:110618684 [GRCh38]
Chr4:111539840 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.916G>A (p.Val306Met) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000803032] Chr4:110618184 [GRCh38]
Chr4:111539340 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.411+2T>G single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000820117] Chr4:110621162 [GRCh38]
Chr4:111542318 [GRCh37]
Chr4:4q25
pathogenic
NM_153427.2(PITX2):c.-966A>G single nucleotide variant Anterior segment dysgenesis 4 [RCV001144488]|Axenfeld-Rieger syndrome type 1 [RCV001144491]|Cataract [RCV001144487]|Hypoplasia of the iris [RCV001144490]|Irido-corneo-trabecular dysgenesis [RCV001146412]|PITX2-Related Eye Abnormalities [RCV001144489]|Ring dermoid of cornea [RCV001146413] Chr4:110637736 [GRCh38]
Chr4:111558892 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-1137G>A single nucleotide variant Anterior segment dysgenesis 4 [RCV001150795]|Axenfeld-Rieger syndrome type 1 [RCV001149306]|Cataract [RCV001149309]|Hypoplasia of the iris [RCV001150794]|Irido-corneo-trabecular dysgenesis [RCV001149308]|PITX2-Related Eye Abnormalities [RCV001149307]|Ring dermoid of cornea [RCV001150793] Chr4:110637907 [GRCh38]
Chr4:111559063 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000792252] Chr4:110618566 [GRCh38]
Chr4:111539722 [GRCh37]
Chr4:4q25
pathogenic
NM_153427.2(PITX2):c.-1411C>T single nucleotide variant Anterior segment dysgenesis 4 [RCV001150895]|Axenfeld-Rieger syndrome type 1 [RCV001150893]|Cataract [RCV001150890]|Hypoplasia of the iris [RCV001150892]|Irido-corneo-trabecular dysgenesis [RCV001147566]|PITX2-Related Eye Abnormalities [RCV001150894]|Ring dermoid of cornea [RCV001150891] Chr4:110641945 [GRCh38]
Chr4:111563101 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-1532C>A single nucleotide variant Anterior segment dysgenesis 4 [RCV001150999]|Axenfeld-Rieger syndrome type 1 [RCV001147654]|Cataract [RCV001151000]|Hypoplasia of the iris [RCV001147655]|Irido-corneo-trabecular dysgenesis [RCV001147653]|PITX2-Related Eye Abnormalities [RCV001147656]|Ring dermoid of cornea [RCV001147652] Chr4:110642066 [GRCh38]
Chr4:111563222 [GRCh37]
Chr4:4q25
benign|likely benign|uncertain significance
NM_153427.2(PITX2):c.-40G>A single nucleotide variant Anterior segment dysgenesis 4 [RCV001144031]|Axenfeld-Rieger syndrome type 1 [RCV001150173]|Cataract [RCV001144032]|Hypoplasia of the iris [RCV001144030]|Irido-corneo-trabecular dysgenesis [RCV001144029]|PITX2-Related Eye Abnormalities [RCV001144033]|Ring dermoid of cornea [RCV001150172] Chr4:110636810 [GRCh38]
Chr4:111557966 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-1335C>A single nucleotide variant Anterior segment dysgenesis 4 [RCV001146660]|Axenfeld-Rieger syndrome type 1 [RCV001146658]|Cataract [RCV001146655]|Hypoplasia of the iris [RCV001146659]|Irido-corneo-trabecular dysgenesis [RCV001146661]|PITX2-Related Eye Abnormalities [RCV001146657]|Ring dermoid of cornea [RCV001146656] Chr4:110638105 [GRCh38]
Chr4:111559261 [GRCh37]
Chr4:4q25
benign|likely benign
NM_153427.2(PITX2):c.-392G>T single nucleotide variant Anterior segment dysgenesis 4 [RCV001150345]|Axenfeld-Rieger syndrome type 1 [RCV001148822]|Cataract [RCV001150346]|Hypoplasia of the iris [RCV001148823]|Irido-corneo-trabecular dysgenesis [RCV001150347]|PITX2-Related Eye Abnormalities [RCV001150344]|Ring dermoid of cornea [RCV001150343] Chr4:110637162 [GRCh38]
Chr4:111558318 [GRCh37]
Chr4:4q25
benign
NM_153427.2(PITX2):c.-300A>T single nucleotide variant Anterior segment dysgenesis 4 [RCV001146033]|Axenfeld-Rieger syndrome type 1 [RCV001146028]|Cataract [RCV001146032]|Hypoplasia of the iris [RCV001146031]|Irido-corneo-trabecular dysgenesis [RCV001146027]|PITX2-Related Eye Abnormalities [RCV001146030]|Ring dermoid of cornea [RCV001146029] Chr4:110637070 [GRCh38]
Chr4:111558226 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-436G>C single nucleotide variant Anterior segment dysgenesis 4 [RCV001144264]|Axenfeld-Rieger syndrome type 1 [RCV001146149]|Cataract [RCV001144263]|Hypoplasia of the iris [RCV001144261]|Irido-corneo-trabecular dysgenesis [RCV001144262]|PITX2-Related Eye Abnormalities [RCV001146148]|Ring dermoid of cornea [RCV001146150] Chr4:110637206 [GRCh38]
Chr4:111558362 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-483C>T single nucleotide variant Anterior segment dysgenesis 4 [RCV001146153]|Axenfeld-Rieger syndrome type 1 [RCV001146152]|Cataract [RCV001146155]|Hypoplasia of the iris [RCV001148951]|Irido-corneo-trabecular dysgenesis [RCV001148952]|PITX2-Related Eye Abnormalities [RCV001146154]|Ring dermoid of cornea [RCV001146151] Chr4:110637253 [GRCh38]
Chr4:111558409 [GRCh37]
Chr4:4q25
uncertain significance
null single nucleotide variant Anterior segment dysgenesis 4 [RCV001150699]|Axenfeld-Rieger syndrome type 1 [RCV001150700]|Cataract [RCV001150698]|Hypoplasia of the iris [RCV001150696]|Irido-corneo-trabecular dysgenesis [RCV001150701]|PITX2-Related Eye Abnormalities [RCV001150697]|Ring dermoid of cornea [RCV001150695]|not provided [RCV001673020] Chr4:110637838 [GRCh38]
Chr4:111558994 [GRCh37]
Chr4:4q25
benign
NM_000325.6(PITX2):c.*687A>G single nucleotide variant Anterior segment dysgenesis 4 [RCV001148065]|Axenfeld-Rieger syndrome type 1 [RCV001148063]|Cataract [RCV001147169]|Hypoplasia of the iris [RCV001148066]|Irido-corneo-trabecular dysgenesis [RCV001148061]|PITX2-Related Eye Abnormalities [RCV001148064]|Ring dermoid of cornea [RCV001148062] Chr4:110617438 [GRCh38]
Chr4:111538594 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.*107A>C single nucleotide variant Anterior segment dysgenesis 4 [RCV001147447]|Axenfeld-Rieger syndrome type 1 [RCV001147445]|Cataract [RCV001147443]|Hypoplasia of the iris [RCV001147442]|Irido-corneo-trabecular dysgenesis [RCV001148373]|PITX2-Related Eye Abnormalities [RCV001147444]|Ring dermoid of cornea [RCV001147446] Chr4:110618018 [GRCh38]
Chr4:111539174 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-245G>A single nucleotide variant Anterior segment dysgenesis 4 [RCV001144137]|Axenfeld-Rieger syndrome type 1 [RCV001150273]|Cataract [RCV001150276]|Hypoplasia of the iris [RCV001150278]|Irido-corneo-trabecular dysgenesis [RCV001150275]|PITX2-Related Eye Abnormalities [RCV001150274]|Ring dermoid of cornea [RCV001150277] Chr4:110637015 [GRCh38]
Chr4:111558171 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.411+1G>A single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV001090057] Chr4:110621163 [GRCh38]
Chr4:111542319 [GRCh37]
Chr4:4q25
pathogenic
NM_153427.2(PITX2):c.-429C>G single nucleotide variant Anterior segment dysgenesis 4 [RCV001144259]|Axenfeld-Rieger syndrome type 1 [RCV001150350]|Cataract [RCV001150349]|Hypoplasia of the iris [RCV001150348]|Irido-corneo-trabecular dysgenesis [RCV001144257]|PITX2-Related Eye Abnormalities [RCV001144258]|Ring dermoid of cornea [RCV001144260] Chr4:110637199 [GRCh38]
Chr4:111558355 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-1078C>A single nucleotide variant Anterior segment dysgenesis 4 [RCV001144605]|Axenfeld-Rieger syndrome type 1 [RCV001144601]|Cataract [RCV001144603]|Hypoplasia of the iris [RCV001144604]|Irido-corneo-trabecular dysgenesis [RCV001150702]|PITX2-Related Eye Abnormalities [RCV001144606]|Ring dermoid of cornea [RCV001144602] Chr4:110637848 [GRCh38]
Chr4:111559004 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-1209C>T single nucleotide variant Anterior segment dysgenesis 4 [RCV001150798]|Axenfeld-Rieger syndrome type 1 [RCV001150796]|Cataract [RCV001150800]|Hypoplasia of the iris [RCV001144686]|Irido-corneo-trabecular dysgenesis [RCV001144687]|PITX2-Related Eye Abnormalities [RCV001150799]|Ring dermoid of cornea [RCV001150797] Chr4:110637979 [GRCh38]
Chr4:111559135 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-79G>A single nucleotide variant Anterior segment dysgenesis 4 [RCV001148716]|Axenfeld-Rieger syndrome type 1 [RCV001145942]|Cataract [RCV001145941]|Hypoplasia of the iris [RCV001148715]|Irido-corneo-trabecular dysgenesis [RCV001148714]|PITX2-Related Eye Abnormalities [RCV001145943]|Ring dermoid of cornea [RCV001145940] Chr4:110636849 [GRCh38]
Chr4:111558005 [GRCh37]
Chr4:4q25
benign|uncertain significance
NM_153427.2(PITX2):c.-362C>G single nucleotide variant Anterior segment dysgenesis 4 [RCV001148819]|Axenfeld-Rieger syndrome type 1 [RCV001148818]|Cataract [RCV001148820]|Hypoplasia of the iris [RCV001148816]|Irido-corneo-trabecular dysgenesis [RCV001146034]|PITX2-Related Eye Abnormalities [RCV001148821]|Ring dermoid of cornea [RCV001148817] Chr4:110637132 [GRCh38]
Chr4:111558288 [GRCh37]
Chr4:4q25
benign|likely benign
NM_153427.2(PITX2):c.-515C>T single nucleotide variant Anterior segment dysgenesis 4 [RCV001146279]|Axenfeld-Rieger syndrome type 1 [RCV001146277]|Cataract [RCV001146278]|Hypoplasia of the iris [RCV001146280]|Irido-corneo-trabecular dysgenesis [RCV001144378]|PITX2-Related Eye Abnormalities [RCV001146275]|Ring dermoid of cornea [RCV001146276] Chr4:110637285 [GRCh38]
Chr4:111558441 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.347_378del (p.Tyr116fs) deletion Axenfeld-Rieger syndrome type 1 [RCV001542747] Chr4:110621197..110621228 [GRCh38]
Chr4:111542353..111542384 [GRCh37]
Chr4:4q25
likely pathogenic
NM_153427.2(PITX2):c.-10-118A>T single nucleotide variant not provided [RCV001560707] Chr4:110633126 [GRCh38]
Chr4:111554282 [GRCh37]
Chr4:4q25
likely benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001638893] Chr4:110620998 [GRCh38]
Chr4:111542154 [GRCh37]
Chr4:4q25
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001598013] Chr4:110632542 [GRCh38]
Chr4:111553698 [GRCh37]
Chr4:4q25
benign
NM_000325.6(PITX2):c.795G>T (p.Pro265=) single nucleotide variant not provided [RCV000952309] Chr4:110618305 [GRCh38]
Chr4:111539461 [GRCh37]
Chr4:4q25
likely benign
NM_000325.6(PITX2):c.206-8G>C single nucleotide variant not provided [RCV000953860] Chr4:110621377 [GRCh38]
Chr4:111542533 [GRCh37]
Chr4:4q25
likely benign
NM_000325.6(PITX2):c.941G>A (p.Ser314Asn) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV001053754] Chr4:110618159 [GRCh38]
Chr4:111539315 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.500dup (p.Asn168fs) duplication Anterior segment dysgenesis [RCV001200027] Chr4:110618599..110618600 [GRCh38]
Chr4:111539755..111539756 [GRCh37]
Chr4:4q25
pathogenic
NM_153427.2(PITX2):c.-967C>T single nucleotide variant Anterior segment dysgenesis 4 [RCV001146415]|Axenfeld-Rieger syndrome type 1 [RCV001146419]|Cataract [RCV001146416]|Hypoplasia of the iris [RCV001146417]|Irido-corneo-trabecular dysgenesis [RCV001146418]|PITX2-Related Eye Abnormalities [RCV001149187]|Ring dermoid of cornea [RCV001146414] Chr4:110637737 [GRCh38]
Chr4:111558893 [GRCh37]
Chr4:4q25
benign|likely benign|uncertain significance
NM_153427.2(PITX2):c.-1422C>A single nucleotide variant Anterior segment dysgenesis 4 [RCV001146751]|Axenfeld-Rieger syndrome type 1 [RCV001144790]|Cataract [RCV001144791]|Hypoplasia of the iris [RCV001146753]|Irido-corneo-trabecular dysgenesis [RCV001146754]|PITX2-Related Eye Abnormalities [RCV001146752]|Ring dermoid of cornea [RCV001144792] Chr4:110641956 [GRCh38]
Chr4:111563112 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-1385+12T>C single nucleotide variant Anterior segment dysgenesis 4 [RCV001147564]|Axenfeld-Rieger syndrome type 1 [RCV001147560]|Cataract [RCV001147562]|Hypoplasia of the iris [RCV001147563]|Irido-corneo-trabecular dysgenesis [RCV001147561]|PITX2-Related Eye Abnormalities [RCV001147565]|Ring dermoid of cornea [RCV001147559] Chr4:110641907 [GRCh38]
Chr4:111563063 [GRCh37]
Chr4:4q25
benign|uncertain significance
NM_153427.2(PITX2):c.-211G>A single nucleotide variant Anterior segment dysgenesis 4 [RCV001150272]|Axenfeld-Rieger syndrome type 1 [RCV001148717]|Cataract [RCV001148721]|Hypoplasia of the iris [RCV001150271]|Irido-corneo-trabecular dysgenesis [RCV001148719]|PITX2-Related Eye Abnormalities [RCV001148718]|Ring dermoid of cornea [RCV001148720] Chr4:110636981 [GRCh38]
Chr4:111558137 [GRCh37]
Chr4:4q25
benign|likely benign|uncertain significance
NM_153427.2(PITX2):c.-793C>A single nucleotide variant Anterior segment dysgenesis 4 [RCV001150572]|Axenfeld-Rieger syndrome type 1 [RCV001150571]|Cataract [RCV001149076]|Hypoplasia of the iris [RCV001150574]|Irido-corneo-trabecular dysgenesis [RCV001149074]|PITX2-Related Eye Abnormalities [RCV001150573]|Ring dermoid of cornea [RCV001149075] Chr4:110637563 [GRCh38]
Chr4:111558719 [GRCh37]
Chr4:4q25
benign|uncertain significance
NM_153427.2(PITX2):c.-1024G>A single nucleotide variant Anterior segment dysgenesis 4 [RCV001149193]|Axenfeld-Rieger syndrome type 1 [RCV001149190]|Cataract [RCV001149189]|Hypoplasia of the iris [RCV001149194]|Irido-corneo-trabecular dysgenesis [RCV001149192]|PITX2-Related Eye Abnormalities [RCV001149188]|Ring dermoid of cornea [RCV001149191] Chr4:110637794 [GRCh38]
Chr4:111558950 [GRCh37]
Chr4:4q25
benign|likely benign
NM_153427.2(PITX2):c.-270A>G single nucleotide variant Anterior segment dysgenesis 4 [RCV001144144]|Axenfeld-Rieger syndrome type 1 [RCV001144140]|Cataract [RCV001144143]|Hypoplasia of the iris [RCV001144141]|Irido-corneo-trabecular dysgenesis [RCV001144139]|PITX2-Related Eye Abnormalities [RCV001144138]|Ring dermoid of cornea [RCV001144142] Chr4:110637040 [GRCh38]
Chr4:111558196 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.206-173C>A single nucleotide variant not provided [RCV001550925] Chr4:110621542 [GRCh38]
Chr4:111542698 [GRCh37]
Chr4:4q25
likely benign
NM_000325.6(PITX2):c.-328G>A single nucleotide variant not provided [RCV001578069] Chr4:110622788 [GRCh38]
Chr4:111543944 [GRCh37]
Chr4:4q25
likely benign
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) single nucleotide variant not provided [RCV001643958] Chr4:110632585 [GRCh38]
Chr4:111553741 [GRCh37]
Chr4:4q25
benign
NM_000325.6(PITX2):c.412-271T>C single nucleotide variant not provided [RCV001565962] Chr4:110618959 [GRCh38]
Chr4:111540115 [GRCh37]
Chr4:4q25
likely benign
NM_014362.4(HIBCH):c.438+9A>T deletion not provided [RCV001720850] Chr4:110622847..110622848 [GRCh38]
Chr4:111544003..111544004 [GRCh37]
benign
null single nucleotide variant not provided [RCV001619036] Chr4:110621471 [GRCh38]
Chr4:111542627 [GRCh37]
Chr4:4q25
benign
NM_014362.4(HIBCH):c.438+9A>T single nucleotide variant not provided [RCV001720861] Chr4:110620968 [GRCh38]
Chr4:111542124 [GRCh37]
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001653229] Chr4:110632177 [GRCh38]
Chr4:111553333 [GRCh37]
Chr4:4q25
benign
NM_000325.6(PITX2):c.*440C>T single nucleotide variant Anterior segment dysgenesis 4 [RCV001149711]|Axenfeld-Rieger syndrome type 1 [RCV001149714]|Cataract [RCV001149709]|Hypoplasia of the iris [RCV001149712]|Irido-corneo-trabecular dysgenesis [RCV001149708]|PITX2-Related Eye Abnormalities [RCV001149713]|Ring dermoid of cornea [RCV001149710] Chr4:110617685 [GRCh38]
Chr4:111538841 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-501T>G single nucleotide variant Anterior segment dysgenesis 4 [RCV001144375]|Axenfeld-Rieger syndrome type 1 [RCV001144374]|Cataract [RCV001144376]|Hypoplasia of the iris [RCV001144371]|Irido-corneo-trabecular dysgenesis [RCV001144377]|PITX2-Related Eye Abnormalities [RCV001144372]|Ring dermoid of cornea [RCV001144373] Chr4:110637271 [GRCh38]
Chr4:111558427 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.*173G>A single nucleotide variant Anterior segment dysgenesis 4 [RCV001145494]|Axenfeld-Rieger syndrome type 1 [RCV001149828]|Cataract [RCV001145493]|Hypoplasia of the iris [RCV001149826]|Irido-corneo-trabecular dysgenesis [RCV001145495]|PITX2-Related Eye Abnormalities [RCV001149825]|Ring dermoid of cornea [RCV001149827] Chr4:110617952 [GRCh38]
Chr4:111539108 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.264del (p.Lys89fs) deletion Axenfeld-Rieger syndrome type 1 [RCV001039241] Chr4:110621311 [GRCh38]
Chr4:111542467 [GRCh37]
Chr4:4q25
pathogenic
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001681747] Chr4:110636704 [GRCh38]
Chr4:111557860 [GRCh37]
Chr4:4q25
benign
NM_006096.4(NDRG1):c.64-20dup single nucleotide variant not provided [RCV001707486] Chr4:110621431 [GRCh38]
Chr4:111542587 [GRCh37]
Chr4:4q25
benign
null single nucleotide variant not provided [RCV001696263] Chr4:110641841 [GRCh38]
Chr4:111562997 [GRCh37]
Chr4:4q25
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001649390] Chr4:110623439 [GRCh38]
Chr4:111544595 [GRCh37]
Chr4:4q25
benign
NM_000325.6(PITX2):c.695G>A (p.Ser232Asn) single nucleotide variant Anterior segment dysgenesis 4 [RCV001149934]|Axenfeld-Rieger syndrome type 1 [RCV001145597]|Cataract [RCV001145598]|Hypoplasia of the iris [RCV001145602]|Irido-corneo-trabecular dysgenesis [RCV001145599]|PITX2-Related Eye Abnormalities [RCV001145600]|Ring dermoid of cornea [RCV001145601] Chr4:110618405 [GRCh38]
Chr4:111539561 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.383G>A (p.Trp128Ter) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV001217543] Chr4:110621192 [GRCh38]
Chr4:111542348 [GRCh37]
Chr4:4q25
pathogenic
NM_153427.2(PITX2):c.-1421G>C single nucleotide variant Anterior segment dysgenesis 4 [RCV001150896]|Axenfeld-Rieger syndrome type 1 [RCV001144786]|Cataract [RCV001144787]|Hypoplasia of the iris [RCV001144785]|Irido-corneo-trabecular dysgenesis [RCV001144789]|PITX2-Related Eye Abnormalities [RCV001150897]|Ring dermoid of cornea [RCV001144788] Chr4:110641955 [GRCh38]
Chr4:111563111 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-1092G>A single nucleotide variant Anterior segment dysgenesis 4 [RCV001146537]|Axenfeld-Rieger syndrome type 1 [RCV001144607]|Cataract [RCV001146539]|Hypoplasia of the iris [RCV001146538]|Irido-corneo-trabecular dysgenesis [RCV001146540]|PITX2-Related Eye Abnormalities [RCV001144608]|Ring dermoid of cornea [RCV001146541] Chr4:110637862 [GRCh38]
Chr4:111559018 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-1491G>A single nucleotide variant Anterior segment dysgenesis 4 [RCV001146757]|Axenfeld-Rieger syndrome type 1 [RCV001146758]|Cataract [RCV001147649]|Hypoplasia of the iris [RCV001146755]|Irido-corneo-trabecular dysgenesis [RCV001146756]|PITX2-Related Eye Abnormalities [RCV001147651]|Ring dermoid of cornea [RCV001147650] Chr4:110642025 [GRCh38]
Chr4:111563181 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.522_523delinsAA (p.Tyr174_Asp175delinsTer) indel Axenfeld-Rieger syndrome type 1 [RCV001206264] Chr4:110618577..110618578 [GRCh38]
Chr4:111539733..111539734 [GRCh37]
Chr4:4q25
pathogenic
NC_000004.12:g.(?_110618105)_(110633018_?)del deletion Axenfeld-Rieger syndrome type 1 [RCV001033280] Chr4:111539261..111554174 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.373del (p.Ile125fs) deletion Axenfeld-Rieger syndrome type 1 [RCV001047882] Chr4:110621202 [GRCh38]
Chr4:111542358 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.412-7C>T single nucleotide variant Anterior segment dysgenesis 4 [RCV001143934]|Axenfeld-Rieger syndrome type 1 [RCV001143931]|Cataract [RCV001143935]|Hypoplasia of the iris [RCV001143933]|Irido-corneo-trabecular dysgenesis [RCV001145829]|PITX2-Related Eye Abnormalities [RCV001143932]|Ring dermoid of cornea [RCV001143930] Chr4:110618695 [GRCh38]
Chr4:111539851 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.282G>T (p.Arg94=) single nucleotide variant Anterior segment dysgenesis 4 [RCV001145831]|Axenfeld-Rieger syndrome type 1 [RCV001145833]|Cataract [RCV001145834]|Hypoplasia of the iris [RCV001145836]|Irido-corneo-trabecular dysgenesis [RCV001145832]|PITX2-Related Eye Abnormalities [RCV001145830]|Ring dermoid of cornea [RCV001145835] Chr4:110621293 [GRCh38]
Chr4:111542449 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-53G>A single nucleotide variant Anterior segment dysgenesis 4 [RCV001145939]|Axenfeld-Rieger syndrome type 1 [RCV001145937]|Cataract [RCV001144035]|Hypoplasia of the iris [RCV001145938]|Irido-corneo-trabecular dysgenesis [RCV001144036]|PITX2-Related Eye Abnormalities [RCV001145936]|Ring dermoid of cornea [RCV001144034] Chr4:110636823 [GRCh38]
Chr4:111557979 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-670C>T single nucleotide variant Anterior segment dysgenesis 4 [RCV001149072]|Axenfeld-Rieger syndrome type 1 [RCV001146282]|Cataract [RCV001149071]|Hypoplasia of the iris [RCV001149070]|Irido-corneo-trabecular dysgenesis [RCV001149069]|PITX2-Related Eye Abnormalities [RCV001149073]|Ring dermoid of cornea [RCV001146281] Chr4:110637440 [GRCh38]
Chr4:111558596 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-1111C>G single nucleotide variant Anterior segment dysgenesis 4 [RCV001149302]|Axenfeld-Rieger syndrome type 1 [RCV001149304]|Cataract [RCV001146544]|Hypoplasia of the iris [RCV001149303]|Irido-corneo-trabecular dysgenesis [RCV001146542]|PITX2-Related Eye Abnormalities [RCV001146543]|Ring dermoid of cornea [RCV001149305] Chr4:110637881 [GRCh38]
Chr4:111559037 [GRCh37]
Chr4:4q25
benign|likely benign
NM_153427.2(PITX2):c.-920C>T single nucleotide variant Anterior segment dysgenesis 4 [RCV001150576]|Axenfeld-Rieger syndrome type 1 [RCV001150575]|Cataract [RCV001150577]|Hypoplasia of the iris [RCV001150578]|Irido-corneo-trabecular dysgenesis [RCV001144484]|PITX2-Related Eye Abnormalities [RCV001144486]|Ring dermoid of cornea [RCV001144485] Chr4:110637690 [GRCh38]
Chr4:111558846 [GRCh37]
Chr4:4q25
uncertain significance
NM_153427.2(PITX2):c.-485C>G single nucleotide variant Anterior segment dysgenesis 4 [RCV001148957]|Axenfeld-Rieger syndrome type 1 [RCV001148954]|Cataract [RCV001148958]|Hypoplasia of the iris [RCV001148955]|Irido-corneo-trabecular dysgenesis [RCV001148956]|PITX2-Related Eye Abnormalities [RCV001150466]|Ring dermoid of cornea [RCV001148953] Chr4:110637255 [GRCh38]
Chr4:111558411 [GRCh37]
Chr4:4q25
benign
GRCh37/hg19 4q25(chr4:111334313-113223858)x1 copy number loss not provided [RCV001259302] Chr4:111334313..113223858 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.289A>C (p.Thr97Pro) single nucleotide variant Inborn genetic diseases [RCV001266680] Chr4:110621286 [GRCh38]
Chr4:111542442 [GRCh37]
Chr4:4q25
uncertain significance
NM_000325.6(PITX2):c.164_167dup (p.His57fs) duplication Anterior segment dysgenesis 4 [RCV001334618] Chr4:110622293..110622294 [GRCh38]
Chr4:111543449..111543450 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.286C>T (p.Arg96Trp) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV001383407] Chr4:110621289 [GRCh38]
Chr4:111542445 [GRCh37]
Chr4:4q25
pathogenic
NM_000325.6(PITX2):c.430C>T (p.Arg144Trp) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV001379880] Chr4:110618670 [GRCh38]
Chr4:111539826 [GRCh37]
Chr4:4q25
likely pathogenic
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001681676] Chr4:110623148 [GRCh38]
Chr4:111544304 [GRCh37]
Chr4:4q25
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001592027] Chr4:110618790 [GRCh38]
Chr4:111539946 [GRCh37]
Chr4:4q25
likely benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001684994] Chr4:110622185 [GRCh38]
Chr4:111543341 [GRCh37]
Chr4:4q25
benign
null single nucleotide variant not provided [RCV001609543] Chr4:110622167 [GRCh38]
Chr4:111543323 [GRCh37]
Chr4:4q25
benign
NC_000004.11:g.(?_111539261)_(111543636_?)del deletion Axenfeld-Rieger syndrome type 1 [RCV001377970] Chr4:111539261..111543636 [GRCh37]
Chr4:4q25
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9005 AgrOrtholog
COSMIC PITX2 COSMIC
Ensembl Genes ENSG00000164093 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000347004 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000347192 UniProtKB/Swiss-Prot
  ENSP00000378095 UniProtKB/Swiss-Prot
  ENSP00000421454 UniProtKB/TrEMBL
  ENSP00000424142 UniProtKB/TrEMBL
  ENSP00000475617 UniProtKB/TrEMBL
  ENSP00000481951 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000484763 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000484909 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000495061 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000354925 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000355080 UniProtKB/Swiss-Prot
  ENST00000394595 UniProtKB/Swiss-Prot
  ENST00000511837 UniProtKB/TrEMBL
  ENST00000511990 UniProtKB/TrEMBL
  ENST00000557119 UniProtKB/TrEMBL
  ENST00000613094 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000614423 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000616641 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000644743 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000164093 GTEx
HGNC ID HGNC:9005 ENTREZGENE
Human Proteome Map PITX2 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_metazoa UniProtKB/TrEMBL
  Homeobox_Pitx/unc30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OAR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5308 UniProtKB/Swiss-Prot
NCBI Gene 5308 ENTREZGENE
OMIM 137600 OMIM
  180500 OMIM
  180550 OMIM
  601542 OMIM
Pfam Homeodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33339 PharmGKB, RGD
PIRSF Homeobox_protein_Pitx/Unc30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS HOMEOBOX UniProtKB/TrEMBL
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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
UniProt D6RBG8_HUMAN UniProtKB/TrEMBL
  D6RFI4_HUMAN UniProtKB/TrEMBL
  PITX2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  U3KQ81_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K6C6 UniProtKB/Swiss-Prot
  B2RA02 UniProtKB/Swiss-Prot
  B3KXS0 UniProtKB/Swiss-Prot
  O60578 UniProtKB/Swiss-Prot
  O60579 UniProtKB/Swiss-Prot
  O60580 UniProtKB/Swiss-Prot
  Q3KQX9 UniProtKB/Swiss-Prot
  Q9BY17 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 PITX2  paired like homeodomain 2  PITX2  paired-like homeodomain 2  Symbol and/or name change 5135510 APPROVED