PR:000000298 pituitary homeobox 2 sequence variant R89W (human) hPITX2/var:R89W|pituitary homeobox 2 sequence variant 1 (human)|UniProtKB:Q99697-1, Arg-89, CHEBI:29954 associated_with_disease_progression DOID:0050786 iridogoniodysgenesis syndrome PMID:9437321 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_003762 20080301 PRO:CNA PR:000000299 pituitary homeobox 2 sequence variant L100Q (human) hPITX2/var:L100Q|pituitary homeobox 2 sequence variant 2 (human)|UniProtKB:Q99697-1, Leu-100, CHEBI:30011 associated_with_disease_progression DOID:14686 Axenfeld-Rieger syndrome PMID:8944018 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_003763 20080301 PRO:CNA PR:000000300 pituitary homeobox 2 sequence variant T114P (human) hPITX2/var:T114P|pituitary homeobox 2 sequence variant 3 (human)|UniProtKB:Q99697-1, Thr-114, CHEBI:50342 associated_with_disease_progression DOID:14686 Axenfeld-Rieger syndrome PMID:8944018 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_003764 20080301 PRO:CNA PR:000000301 pituitary homeobox 2 sequence variant R115H (human) hPITX2/var:R115H|pituitary homeobox 2 sequence variant 4 (human)|UniProtKB:Q99697-1, Arg-115, CHEBI:29979 associated_with_disease_progression DOID:0050786 iridogoniodysgenesis syndrome PMID:9618168 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_003765 20080301 PRO:CNA PR:000000302 pituitary homeobox 2 sequence variant R137P (human) hPITX2/var:R137P|pituitary homeobox 2 sequence variant 5 (human)|UniProtKB:Q99697-1, Arg-137, CHEBI:50342 associated_with_disease_progression DOID:14686 Axenfeld-Rieger syndrome PMID:8944018 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_003766 20080301 PRO:CNA PR:000036294 pituitary homeobox 2 isoform 4 (human) hPITX2/iso:4 capable_of GO:0005515 protein binding PR:Q99697-2 PMID:11948188 IPI NCBITaxon:9606 HGNC:9005 20150223 PRO:CNA Note=Sequence not deposited in any database PR:000036294 pituitary homeobox 2 isoform 4 (human) hPITX2/iso:4 capable_of GO:0005515 protein binding PR:Q99697-3 PMID:11948188 IPI NCBITaxon:9606 HGNC:9005 20150223 PRO:CNA Note=Sequence not deposited in any database PR:000036294 pituitary homeobox 2 isoform 4 (human) hPITX2/iso:4 NOT capable_of GO:0003677 DNA binding PMID:11948188 IDA NCBITaxon:9606 HGNC:9005 20080301 PRO:CNA Note=Sequence not deposited in any database PR:000036294 pituitary homeobox 2 isoform 4 (human) hPITX2/iso:4 participates_in GO:0043433 negative regulation of DNA-binding transcription factor activity PMID:11948188 IDA NCBITaxon:9606 HGNC:9005 20080301 PRO:CNA Note=Sequence not deposited in any database PR:Q99697-1 pituitary homeobox 2 isoform Ptx2B (human) hPITX2/iso:Ptx2B|pituitary homeobox 2 isoform ARP1B (human) capable_of GO:0005515 protein binding PR:Q99697-3 PMID:11948188 IPI NCBITaxon:9606 UniProtKB:Q99697-1 20150223 PRO:CNA PR:Q99697-1 pituitary homeobox 2 isoform Ptx2B (human) hPITX2/iso:Ptx2B|pituitary homeobox 2 isoform ARP1B (human) capable_of GO:0005515 protein binding PR:Q99697-2 PMID:11948188 IPI NCBITaxon:9606 UniProtKB:Q99697-1 20150223 PRO:CNA PR:Q99697-1 pituitary homeobox 2 isoform Ptx2B (human) hPITX2/iso:Ptx2B|pituitary homeobox 2 isoform ARP1B (human) participates_in GO:0007368 determination of left/right symmetry PMID:9708732 IDA NCBITaxon:9606 UniProtKB:Q99697-1 20080301 PRO:CNA PR:Q99697-1 pituitary homeobox 2 isoform Ptx2B (human) hPITX2/iso:Ptx2B|pituitary homeobox 2 isoform ARP1B (human) participates_in GO:0009887 animal organ morphogenesis PMID:9618168 IDA NCBITaxon:9606 UniProtKB:Q99697-1 20080301 PRO:CNA PR:Q99697-2 pituitary homeobox 2 isoform Ptx2C (human) hPITX2/iso:Ptx2C|pituitary homeobox 2 isoform ARP1C (human) capable_of GO:0005515 protein binding PR:Q99697-3 PMID:11948188 IPI NCBITaxon:9606 UniProtKB:Q99697-2 20080301 PRO:CNA PR:Q99697-2 pituitary homeobox 2 isoform Ptx2C (human) hPITX2/iso:Ptx2C|pituitary homeobox 2 isoform ARP1C (human) capable_of GO:0005515 protein binding PR:Q99697-1 PMID:11948188 IPI NCBITaxon:9606 UniProtKB:Q99697-2 20080301 PRO:CNA PR:Q99697-2 pituitary homeobox 2 isoform Ptx2C (human) hPITX2/iso:Ptx2C|pituitary homeobox 2 isoform ARP1C (human) capable_of GO:0003677 DNA binding PMID:11948188 IDA NCBITaxon:9606 UniProtKB:Q99697-2 20080301 PRO:CNA PR:Q99697-2 pituitary homeobox 2 isoform Ptx2C (human) hPITX2/iso:Ptx2C|pituitary homeobox 2 isoform ARP1C (human) participates_in GO:0007507 heart development PMID:11948188 IDA NCBITaxon:9606 UniProtKB:Q99697-2 20080301 PRO:CNA PR:Q99697-3 pituitary homeobox 2 isoform Ptx2A (human) hPITX2/iso:Ptx2A|pituitary homeobox 2 isoform ARP1A (human) capable_of GO:0005515 protein binding PR:Q99697-2 PMID:11948188 IPI NCBITaxon:9606 UniProtKB:Q99697-3 20080301 PRO:CNA PR:Q99697-3 pituitary homeobox 2 isoform Ptx2A (human) hPITX2/iso:Ptx2A|pituitary homeobox 2 isoform ARP1A (human) capable_of GO:0008134 transcription factor binding PMID:16449236 IDA NCBITaxon:9606 UniProtKB:Q99697-3 20080301 PRO:CNA PR:Q99697-3 pituitary homeobox 2 isoform Ptx2A (human) hPITX2/iso:Ptx2A|pituitary homeobox 2 isoform ARP1A (human) located_in GO:0005634 nucleus PMID:16449236 IDA NCBITaxon:9606 UniProtKB:Q99697-3 20080301 PRO:CNA