[Term]
id: PR:000036294
name: pituitary homeobox 2 isoform 4 (human)
def: "A pituitary homeobox 2 isoform 4 that is encoded in the genome of human." [PMID:11948188, PRO:DAN]
comment: Category=organism-sequence. Note: Sequence not deposited in any database, though the exon structure is described in the cited reference.
synonym: "hPITX2/iso:4" EXACT PRO-short-label [PRO:DAN]
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000000297 ! pituitary homeobox 2 isoform 4

[Term]
id: PR:000000117
name: pituitary homeobox 2
def: "A ptx homeobox protein that is a translation product of the human PITX2 gene or a 1:1 ortholog thereof. The PITX2 gene contains 6 conserved exons." [PRO:CNA]
comment: Category=gene.
synonym: "RGS" RELATED Gene-based []
synonym: "ARP1" RELATED Gene-based []
synonym: "Brx1" RELATED Gene-based []
synonym: "Ptx2" RELATED Gene-based []
synonym: "RIEG" RELATED Gene-based []
synonym: "Otlx2" RELATED Gene-based []
synonym: "PITX2" EXACT PRO-short-label [PRO:DNx]
synonym: "RIEG1" RELATED Gene-based []
synonym: "solurshin" EXACT []
synonym: "BRX1 homeoprotein" EXACT []
synonym: "homeobox protein PITX2" EXACT []
synonym: "ALL1-responsive protein ARP1" EXACT []
synonym: "orthodenticle-like homeobox 2" EXACT []
synonym: "paired-like homeodomain transcription factor 2" EXACT []
synonym: "RIEG bicoid-related homeobox transcription factor" EXACT []
synonym: "paired-like homeodomain transcription factor Munc 30" EXACT []
is_a: PR:000000022 ! ptx homeobox protein

[Term]
id: PR:Q99697-3
name: pituitary homeobox 2 isoform Ptx2A (human)
def: "A pituitary homeobox 2 isoform Ptx2A that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q99697]
comment: Category=organism-sequence.
synonym: "hPITX2/iso:Ptx2A" EXACT PRO-short-label [PRO:DNx]
synonym: "pituitary homeobox 2 isoform ARP1A (human)" EXACT [UniProtKB:Q99697]
xref: UniProtKB:Q99697-3
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000000294 ! pituitary homeobox 2 isoform Ptx2A

[Term]
id: PR:Q99697-2
name: pituitary homeobox 2 isoform Ptx2C (human)
def: "A pituitary homeobox 2 isoform Ptx2C that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q99697]
comment: Category=organism-sequence.
synonym: "hPITX2/iso:Ptx2C" EXACT PRO-short-label [PRO:DNx]
synonym: "pituitary homeobox 2 isoform ARP1C (human)" EXACT [UniProtKB:Q99697]
xref: UniProtKB:Q99697-2
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000000296 ! pituitary homeobox 2 isoform Ptx2C

[Term]
id: PR:Q99697-1
name: pituitary homeobox 2 isoform Ptx2B (human)
def: "A pituitary homeobox 2 isoform Ptx2B that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q99697]
comment: Category=organism-sequence.
synonym: "hPITX2/iso:Ptx2B" EXACT PRO-short-label [PRO:DNx]
synonym: "pituitary homeobox 2 isoform ARP1B (human)" EXACT [UniProtKB:Q99697]
xref: UniProtKB:Q99697-1
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000000295 ! pituitary homeobox 2 isoform Ptx2B

[Term]
id: PR:000000302
name: pituitary homeobox 2 sequence variant R137P (human)
def: "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]
comment: Category=organism-sequence.
synonym: "hPITX2/var:R137P" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q99697-1, Arg-137, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "pituitary homeobox 2 sequence variant 5 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_003766
is_a: PR:Q99697 ! pituitary homeobox 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000301
name: pituitary homeobox 2 sequence variant R115H (human)
def: "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]
comment: Category=organism-sequence.
synonym: "hPITX2/var:R115H" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q99697-1, Arg-115, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "pituitary homeobox 2 sequence variant 4 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_003765
is_a: PR:Q99697 ! pituitary homeobox 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000300
name: pituitary homeobox 2 sequence variant T114P (human)
def: "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]
comment: Category=organism-sequence.
synonym: "hPITX2/var:T114P" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q99697-1, Thr-114, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "pituitary homeobox 2 sequence variant 3 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_003764
is_a: PR:Q99697 ! pituitary homeobox 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000299
name: pituitary homeobox 2 sequence variant L100Q (human)
def: "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]
comment: Category=organism-sequence.
synonym: "hPITX2/var:L100Q" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q99697-1, Leu-100, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "pituitary homeobox 2 sequence variant 2 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_003763
is_a: PR:Q99697 ! pituitary homeobox 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000298
name: pituitary homeobox 2 sequence variant R89W (human)
def: "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]
comment: Category=organism-sequence.
synonym: "hPITX2/var:R89W" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q99697-1, Arg-89, CHEBI:29954" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "pituitary homeobox 2 sequence variant 1 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_003762
is_a: PR:Q99697 ! pituitary homeobox 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:Q99697
name: pituitary homeobox 2 (human)
def: "A pituitary homeobox 2 that is encoded in the genome of human." [PRO:CNA, UniProtKB:Q99697]
comment: Category=organism-gene.
synonym: "RGS" RELATED Gene-based [UniProtKB:Q99697]
synonym: "ARP1" RELATED Gene-based [UniProtKB:Q99697]
synonym: "RIEG" RELATED Gene-based [UniProtKB:Q99697]
synonym: "PITX2" RELATED Gene-based [UniProtKB:Q99697]
synonym: "RIEG1" RELATED Gene-based [UniProtKB:Q99697]
synonym: "hPITX2" EXACT PRO-short-label [PRO:DNx]
synonym: "solurshin (human)" EXACT [UniProtKB:Q99697]
synonym: "homeobox protein PITX2 (human)" EXACT [UniProtKB:Q99697]
synonym: "ALL1-responsive protein ARP1 (human)" EXACT [UniProtKB:Q99697]
synonym: "paired-like homeodomain transcription factor 2 (human)" EXACT [UniProtKB:Q99697]
synonym: "RIEG bicoid-related homeobox transcription factor (human)" EXACT [UniProtKB:Q99697]
xref: UniProtKB:Q99697
xref: Reactome:R-HSA-8864726 "PR:Q99697 located_in GO:0005654"
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000000117 ! pituitary homeobox 2
relationship: has_gene_template HGNC:9005 ! PITX2 (human)