PRO Term |
GO Annotation |
Evidence |
PR:000000298 hPITX2/var:R89W UniProtKB:Q99697, Arg-89, CHEBI:29954 | UniProtKB:Q99697-1, Arg-89, CHEBI:29954 | pituitary homeobox 2 sequence variant 1 (human) "A pituitary homeobox 2 (human) that has a Trp residue at the position equivalent to Arg-89 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Arg-89, CHEBI:29954." [PMID:9437321, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050786 iridogoniodysgenesis syndrome |
PMID:9437321 |
PR:000000299 hPITX2/var:L100Q UniProtKB:Q99697, Leu-100, CHEBI:30011 | UniProtKB:Q99697-1, Leu-100, CHEBI:30011 | pituitary homeobox 2 sequence variant 2 (human) "A pituitary homeobox 2 (human) that has a Gln residue at the position equivalent to Leu-100 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Leu-100, CHEBI:30011." [PMID:8944018, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14686 Axenfeld-Rieger syndrome |
PMID:8944018 |
PR:000000300 hPITX2/var:T114P UniProtKB:Q99697, Thr-114, CHEBI:50342 | UniProtKB:Q99697-1, Thr-114, CHEBI:50342 | pituitary homeobox 2 sequence variant 3 (human) "A pituitary homeobox 2 (human) that has a Pro residue at the position equivalent to Thr-114 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Thr-114, CHEBI:50342." [PMID:8944018, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14686 Axenfeld-Rieger syndrome |
PMID:8944018 |
PR:000000301 hPITX2/var:R115H UniProtKB:Q99697, Arg-115, CHEBI:29979 | UniProtKB:Q99697-1, Arg-115, CHEBI:29979 | pituitary homeobox 2 sequence variant 4 (human) "A pituitary homeobox 2 (human) that has a His residue at the position equivalent to Arg-115 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Arg-115, CHEBI:29979." [PMID:9618168, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050786 iridogoniodysgenesis syndrome |
PMID:9618168 |
PR:000000302 hPITX2/var:R137P UniProtKB:Q99697, Arg-137, CHEBI:50342 | UniProtKB:Q99697-1, Arg-137, CHEBI:50342 | pituitary homeobox 2 sequence variant 5 (human) "A pituitary homeobox 2 (human) that has a Pro residue at the position equivalent to Arg-137 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Arg-137, CHEBI:50342." [PMID:8944018, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14686 Axenfeld-Rieger syndrome |
PMID:8944018 |
PR:000036294 hPITX2/iso:4
"A pituitary homeobox 2 isoform 4 that is encoded in the genome of human." [PMID:11948188, PRO:DAN] |
acts_upstream_of_or_within | GO:0043433 negative regulation of DNA-binding transcription factor activity |
PMID:11948188 |
enables | NOT GO:0003677 DNA binding |
PMID:11948188 |
GO:0005515 protein binding with PR:Q99697-3 |
PMID:11948188 |
GO:0005515 protein binding |
PMID:11948188 |
PR:Q99697-1 hPITX2/iso:Ptx2B pituitary homeobox 2 isoform ARP1B (human) "A pituitary homeobox 2 isoform Ptx2B that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q99697] |
acts_upstream_of_or_within | GO:0007368 determination of left/right symmetry |
PMID:9708732 |
GO:0009887 animal organ morphogenesis |
PMID:9618168 |
enables | GO:0005515 protein binding with PR:Q99697-2 |
PMID:11948188 |
GO:0005515 protein binding with PR:Q99697-3 |
PMID:11948188 |
PR:Q99697-2 hPITX2/iso:Ptx2C pituitary homeobox 2 isoform ARP1C (human) "A pituitary homeobox 2 isoform Ptx2C that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q99697] |
acts_upstream_of_or_within | GO:0007507 heart development |
PMID:11948188 |
enables | GO:0003677 DNA binding |
PMID:11948188 |
GO:0005515 protein binding with PR:Q99697-3 |
PMID:11948188 |
GO:0005515 protein binding |
PMID:11948188 |
PR:Q99697-3 hPITX2/iso:Ptx2A pituitary homeobox 2 isoform ARP1A (human) "A pituitary homeobox 2 isoform Ptx2A that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q99697] |
enables | GO:0005515 protein binding with PR:Q99697-2 |
PMID:11948188 |
GO:0008134 transcription factor binding |
PMID:16449236 |
located_in | GO:0005634 nucleus |
PMID:16449236 |