full name
paired like homeodomain 2

synonyms
ARP1, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS, PITX2, ENSG00000164093

HGNC
HGNC:9005

Entrez Gene
Gene:5308

ENSEMBL
ENSG00000164093

location
chr: 4
start: 111538579
stop: 111563279
strand: -

OMIM
OMIM:601542: PITX2 (Autosomal dominant inheritance)
OMIM:137600: Anterior segment dysgenesis 4
OMIM:180500: Axenfeld-Rieger syndrome, type 1
OMIM:180550: Ring dermoid of cornea

transcripts
NM_001204399.1
NM_001204398.1
NM_153427.2
NM_153426.2
NM_001204397.1
NM_000325.5

pathways
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15175151] [PUBMED:14744435] [PUBMED:15680972] [PUBMED:11395415] [PUBMED:15896744] [PUBMED:10235266] [PUBMED:14986688] [PUBMED:12023297] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:16719718] [PUBMED:16921404] [PUBMED:15690163]
Regulation of Wnt-mediated beta catenin signaling and target gene transcription [NCBI:169352] [Pathway Interaction Database:wnt_beta_catenin_pathway] [PUBMED:19901072] [PUBMED:19699733] [PUBMED:15142975] [PUBMED:16565090] [PUBMED:17372190] [PUBMED:17310985] [PUBMED:11751639] [PUBMED:16301527] [PUBMED:10921920] [PUBMED:8622675] [PUBMED:19571879] [PUBMED:11445543] [PUBMED:19066453] [PUBMED:15768032] [PUBMED:10704849] [PUBMED:19940019] [PUBMED:15378020] [PUBMED:10318916] [PUBMED:10617567] [PUBMED:19435523] [PUBMED:18511409] [PUBMED:18006687] [PUBMED:14638683] [PUBMED:15782138] [PUBMED:15143193] [PUBMED:9671490] [PUBMED:11263497] [PUBMED:18193033] [PUBMED:9751710] [PUBMED:11532957] [PUBMED:10898789] [PUBMED:11266540] [PUBMED:17090534] [PUBMED:15492215] [PUBMED:16309666] [PUBMED:12502739] [PUBMED:10980707] [PUBMED:17945188] [PUBMED:11572874] [PUBMED:11809808] [PUBMED:17113388] [PUBMED:20128690] [PUBMED:17709391] [PUBMED:11500377] [PUBMED:12464179] [PUBMED:18347071] [PUBMED:18347094] [PUBMED:15592430] [PUBMED:10958684] [PUBMED:12408825] [PUBMED:15525529] [PUBMED:16581771] [PUBMED:12052822] [PUBMED:15668231] [PUBMED:16014379] [PUBMED:17923689] [PUBMED:15592505] [PUBMED:10984057] [PUBMED:20044351] [PUBMED:11940574] [PUBMED:10747853] [PUBMED:12606575] [PUBMED:15728254] [PUBMED:11080158] [PUBMED:12446687] [PUBMED:20128911] [PUBMED:19816403] [PUBMED:18573912] [PUBMED:17397822] [PUBMED:10489374] [PUBMED:17052462] [PUBMED:20371816] [PUBMED:18347063] [PUBMED:11035805] [PUBMED:11792709] [PUBMED:16899215] [PUBMED:10882123] [PUBMED:12200448] [PUBMED:15060161] [PUBMED:12711682] [PUBMED:12582159] [PUBMED:12646922] [PUBMED:19460168] [PUBMED:16778892] [PUBMED:17306568] [PUBMED:12712206] [PUBMED:19711354] [PUBMED:17893322] [PUBMED:10934025] [PUBMED:19503085] [PUBMED:19433865]
TFAP2 (AP-2) family regulates transcription of other transcription factors [NCBI:1427842] [REACTOME:R-HSA-8866906] [PUBMED:15475956] [PUBMED:22735262]
TGF-beta signaling pathway [NCBI:83064] [KEGG:hsa04350] [PUBMED:11836504] [PUBMED:14534577] [PUBMED:10021351] [PUBMED:12809600] [PUBMED:14557817] [PUBMED:14769828] [PUBMED:10519551] [PUBMED:12163231] [PUBMED:19758997] [PUBMED:12466190] [PUBMED:11252746] [PUBMED:15063168] [PUBMED:9847239] [PUBMED:11252892]
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors [NCBI:1427839] [REACTOME:R-HSA-8864260] [PUBMED:2010091] [PUBMED:11744733] [PUBMED:24469049] [PUBMED:23382213] [PUBMED:19798054] [PUBMED:9162057] [PUBMED:21084835] [PUBMED:22735262] [PUBMED:21375726] [PUBMED:14744778] [PUBMED:10648798] [PUBMED:26832794] [PUBMED:24835590] [PUBMED:9687504] [PUBMED:20805990] [PUBMED:10497269] [PUBMED:16420676] [PUBMED:12072434] [PUBMED:9850080] [PUBMED:9182571] [PUBMED:8988173] [PUBMED:1998122] [PUBMED:22371483] [PUBMED:15870067] [PUBMED:12586840] [PUBMED:8895516] [PUBMED:7891714] [PUBMED:11694877] [PUBMED:19115315] [PUBMED:15475956] [PUBMED:25114211]