GenTIGS

Paired like homeodomain 2 (PITX2) Associated conditions: 1. Irido-corneo-trabecular dysgenesis

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000325.6	NP_000316.2	NC_000004.12	(110617422..110642122, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001204397.2	NP_001191326.1	NC_000004.12	(110617422..110642122, complement)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_001204398.1	NP_001191327.1	NC_000004.12	(110617422..110642122, complement)	Reference GRCh38.p14 Primary Assembly	-
4	REVIEWED	NM_001204399.1	NP_001191328.1	NC_000004.12	(110617422..110642122, complement)	Reference GRCh38.p14 Primary Assembly	-
5	REVIEWED	NM_153426.3	NP_700475.1	NC_000004.12	(110617422..110642122, complement)	Reference GRCh38.p14 Primary Assembly	-
6	REVIEWED	NM_153427.3	NP_700476.1	NC_000004.12	(110617422..110642122, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1226 reference articles

Variant Information Paired like homeodomain 2 (PITX2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Paired like homeodomain 2 (PITX2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	involved_in	negative regulation of transcription by RNA polymerase II	Process	19174163
2	Homo sapiens	IEA	involved_in	negative regulation of transcription by RNA polymerase II	Process	-
3	Homo sapiens	ISA	located_in	chromatin	Component	-
4	Homo sapiens	IDA	enables	transcription cis-regulatory region binding	Function	9685346 12612071
5	Homo sapiens	IBA	enables	RNA polymerase II cis-regulatory region sequence-specific DNA binding	Function	-
6	Homo sapiens	IBA	enables	DNA-binding transcription factor activity, RNA polymerase II-specific	Function	-
7	Homo sapiens	IDA	enables	DNA-binding transcription factor activity, RNA polymerase II-specific	Function	9685346
8	Homo sapiens	IEA	enables	DNA-binding transcription factor activity, RNA polymerase II-specific	Function	-
9	Homo sapiens	ISA	enables	DNA-binding transcription factor activity, RNA polymerase II-specific	Function	-
10	Homo sapiens	IDA	enables	DNA-binding transcription repressor activity, RNA polymerase II-specific	Function	16449236
11	Homo sapiens	IEA	involved_in	outflow tract morphogenesis	Process	-
12	Homo sapiens	ISS	involved_in	outflow tract morphogenesis	Process	-
13	Homo sapiens	IEA	involved_in	cardiac neural crest cell migration involved in outflow tract morphogenesis	Process	-
14	Homo sapiens	ISS	involved_in	cardiac neural crest cell migration involved in outflow tract morphogenesis	Process	-
15	Homo sapiens	IEA	enables	DNA binding	Function	-
16	Homo sapiens	IEA	enables	chromatin binding	Function	-
17	Homo sapiens	IDA	enables	DNA-binding transcription factor activity	Function	11301317 15385555
18	Homo sapiens	IEA	enables	DNA-binding transcription factor activity	Function	-
19	Homo sapiens	IPI	enables	protein binding	Function	9685346 12612071 15466416 16449236 19174163 23088713 32296183
20	Homo sapiens	IBA	is_active_in	nucleus	Component	-
21	Homo sapiens	IDA	located_in	nucleus	Component	16449236 19251162
22	Homo sapiens	IEA	located_in	nucleus	Component	-
23	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
24	Homo sapiens	TAS	located_in	nucleoplasm	Component	-
25	Homo sapiens	IDA	part_of	transcription regulator complex	Component	15385555
26	Homo sapiens	IEA	part_of	transcription regulator complex	Component	-
27	Homo sapiens	IEA	located_in	cytoplasm	Component	-
28	Homo sapiens	IDA	involved_in	regulation of DNA-templated transcription	Process	11301317
29	Homo sapiens	IEA	involved_in	regulation of DNA-templated transcription	Process	-
30	Homo sapiens	IBA	involved_in	regulation of transcription by RNA polymerase II	Process	-
31	Homo sapiens	IDA	acts_upstream_of_or_within	regulation of transcription by RNA polymerase II	Process	15385555 23975681
32	Homo sapiens	ISS	involved_in	determination of left/right symmetry	Process	-
33	Homo sapiens	IEA	involved_in	positive regulation of cell population proliferation	Process	-
34	Homo sapiens	ISS	involved_in	positive regulation of cell population proliferation	Process	-
35	Homo sapiens	IBA	involved_in	anatomical structure morphogenesis	Process	-
36	Homo sapiens	IEA	involved_in	animal organ morphogenesis	Process	-
37	Homo sapiens	IEA	enables	chromatin DNA binding	Function	-
38	Homo sapiens	IC	involved_in	hair cell differentiation	Process	19251162
39	Homo sapiens	IEA	involved_in	deltoid tuberosity development	Process	-
40	Homo sapiens	IMP	involved_in	deltoid tuberosity development	Process	18312615
41	Homo sapiens	IMP	involved_in	odontogenesis	Process	14630904
42	Homo sapiens	IPI	enables	identical protein binding	Function	12612071
43	Homo sapiens	IPI	enables	protein homodimerization activity	Function	12612071 19174163
44	Homo sapiens	IMP	involved_in	camera-type eye development	Process	9618168
45	Homo sapiens	IDA	enables	ribonucleoprotein complex binding	Function	19174163
46	Homo sapiens	IEA	enables	sequence-specific DNA binding	Function	-
47	Homo sapiens	IDA	involved_in	positive regulation of transcription by RNA polymerase II	Process	9685346 15466416 19174163 19251162
48	Homo sapiens	IEA	involved_in	spleen development	Process	-
49	Homo sapiens	ISS	involved_in	spleen development	Process	-
50	Homo sapiens	IEA	involved_in	system development	Process	-
51	Homo sapiens	IPI	enables	phosphoprotein binding	Function	19174163
52	Homo sapiens	TAS	involved_in	somatotropin secreting cell differentiation	Process	10372733
53	Homo sapiens	TAS	involved_in	prolactin secreting cell differentiation	Process	10372733
54	Homo sapiens	IEA	involved_in	embryonic heart tube left/right pattern formation	Process	-
55	Homo sapiens	ISS	involved_in	embryonic heart tube left/right pattern formation	Process	-
56	Homo sapiens	IMP	involved_in	iris morphogenesis	Process	9437321
57	Homo sapiens	IPI	enables	RNA polymerase II-specific DNA-binding transcription factor binding	Function	9685346 12612071 15466416 16449236
58	Homo sapiens	IEA	involved_in	left/right axis specification	Process	-
59	Homo sapiens	ISS	involved_in	left/right axis specification	Process	-
60	Homo sapiens	IPI	enables	DNA-binding transcription factor binding	Function	16449236
61	Homo sapiens	IDA	enables	sequence-specific double-stranded DNA binding	Function	28473536