The PITX2 gene homepage

General information
Gene symbol PITX2
Gene name paired-like homeodomain 2
Chromosome 4
Chromosomal band q25
Imprinted Unknown
Genomic reference NG_007120.1
Transcript reference NM_000325.5, NM_153426.2
Exon/intron information NM_000325.5 exon/intron table, NM_153426.2 exon/intron table
Associated with diseases IRID-2, Peters, RDC, RIEG-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 71
Unique public DNA variants reported 48
Individuals with public variants 73
Hidden variants 4
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created April 29, 2010
Date last updated February 08, 2021
Version PITX2:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000325.5, NM_153426.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/PITX2
External URL Orphanet
HGNC 9005
Entrez Gene 5308
PubMed articles PITX2
OMIM - Gene 601542
OMIM - Diseases IRID-2 (iridogoniodysgenesis, type 2 (IRID-2))
Peters (Peters anomaly)
RDC (dermoid of cornea, ring (RDC))
RIEG-1 (Axenfeld-Rieger syndrome, type 1 (RIEG-1))
HGMD PITX2
GeneCards PITX2
GeneTests PITX2
Orphanet PITX2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024018 4 transcript variant 2 NM_153426.2 NP_700475.1 71
00025543 4 transcript variant 3 NM_000325.5 NP_000316.2 71


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