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Q99697

- PITX2_HUMAN

UniProt

Q99697 - PITX2_HUMAN

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Protein
Pituitary homeobox 2
Gene
PITX2, ARP1, RGS, RIEG, RIEG1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right asymmetry the developing embryo By similarity.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi85 – 14460Homeobox
Add
BLAST

GO - Molecular functioni

  1. RNA polymerase II activating transcription factor binding Source: BHF-UCL
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: BHF-UCL
  4. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  5. RNA polymerase II transcription coactivator activity Source: BHF-UCL
  6. RNA polymerase II transcription factor binding Source: BHF-UCL
  7. RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription Source: BHF-UCL
  8. chromatin DNA binding Source: Ensembl
  9. phosphoprotein binding Source: BHF-UCL
  10. protein binding Source: BHF-UCL
  11. protein homodimerization activity Source: BHF-UCL
  12. ribonucleoprotein complex binding Source: BHF-UCL
  13. sequence-specific DNA binding transcription factor activity Source: MGI
  14. transcription factor binding Source: MGI
  15. transcription regulatory region sequence-specific DNA binding Source: BHF-UCL

GO - Biological processi

  1. Wnt signaling pathway Source: Ensembl
  2. atrial cardiac muscle tissue morphogenesis Source: Ensembl
  3. atrioventricular valve development Source: Ensembl
  4. camera-type eye development Source: BHF-UCL
  5. cardiac neural crest cell migration involved in outflow tract morphogenesis Source: BHF-UCL
  6. cell proliferation involved in outflow tract morphogenesis Source: BHF-UCL
  7. deltoid tuberosity development Source: BHF-UCL
  8. determination of left/right symmetry Source: BHF-UCL
  9. embryonic camera-type eye development Source: Ensembl
  10. embryonic digestive tract morphogenesis Source: Ensembl
  11. embryonic hindlimb morphogenesis Source: Ensembl
  12. endodermal digestive tract morphogenesis Source: Ensembl
  13. extraocular skeletal muscle development Source: Ensembl
  14. female gonad development Source: Ensembl
  15. hair cell differentiation Source: BHF-UCL
  16. hypothalamus cell migration Source: Ensembl
  17. in utero embryonic development Source: Ensembl
  18. iris morphogenesis Source: BHF-UCL
  19. left lung morphogenesis Source: Ensembl
  20. left/right axis specification Source: BHF-UCL
  21. male gonad development Source: Ensembl
  22. myoblast fusion Source: Ensembl
  23. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  24. neuron migration Source: Ensembl
  25. odontogenesis Source: BHF-UCL
  26. odontogenesis of dentin-containing tooth Source: Ensembl
  27. patterning of blood vessels Source: Ensembl
  28. positive regulation of DNA binding Source: Ensembl
  29. positive regulation of myoblast proliferation Source: Ensembl
  30. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  31. prolactin secreting cell differentiation Source: BHF-UCL
  32. pulmonary myocardium development Source: Ensembl
  33. pulmonary vein morphogenesis Source: Ensembl
  34. regulation of cell migration Source: Ensembl
  35. regulation of transcription from RNA polymerase II promoter Source: MGI
  36. regulation of transcription, DNA-templated Source: MGI
  37. response to hormone Source: Ensembl
  38. response to vitamin A Source: Ensembl
  39. somatotropin secreting cell differentiation Source: BHF-UCL
  40. spleen development Source: BHF-UCL
  41. subthalamic nucleus development Source: Ensembl
  42. superior vena cava morphogenesis Source: Ensembl
  43. vascular smooth muscle cell differentiation Source: Ensembl
  44. vasculogenesis Source: Ensembl
  45. ventricular cardiac muscle cell development Source: Ensembl
  46. ventricular septum morphogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiQ99697.

Names & Taxonomyi

Protein namesi
Recommended name:
Pituitary homeobox 2
Alternative name(s):
ALL1-responsive protein ARP1
Homeobox protein PITX2
Paired-like homeodomain transcription factor 2
RIEG bicoid-related homeobox transcription factor
Solurshin
Gene namesi
Name:PITX2
Synonyms:ARP1, RGS, RIEG, RIEG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:9005. PITX2.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: Ensembl
  2. nucleus Source: BHF-UCL
  3. transcription factor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]: An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Additional features include aniridia, maxillary hypoplasia, hypodontia, anal stenosis, redundant periumbilical skin.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti100 – 1001L → Q in RIEG1. 1 Publication
VAR_003763
Natural varianti110 – 1101P → L in RIEG1. 2 Publications
VAR_058735
Natural varianti110 – 1101P → R in RIEG1. 1 Publication
VAR_058736
Natural varianti114 – 1141T → P in RIEG1. 1 Publication
VAR_003764
Natural varianti128 – 1347Missing in RIEG1; more than 100-fold reduction in DNA binding activity as well as no detectable transactivation activity.
VAR_035028
Natural varianti129 – 1291V → L in RIEG1; more than 200% increase in transactivation activity. 1 Publication
VAR_035029
Natural varianti134 – 1341K → E in RIEG1. 1 Publication
VAR_058737
Natural varianti136 – 1361R → C in RIEG1. 2 Publications
VAR_058738
Natural varianti137 – 1371R → P in RIEG1. 1 Publication
VAR_003766
Natural varianti151 – 1511L → V in RIEG1. 1 Publication
VAR_058739
Natural varianti154 – 1541N → T in RIEG1. 1 Publication
VAR_058740
Iridogoniodysgenesis 2 (IRID2) [MIM:137600]: Autosomal dominant inherited disease.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti115 – 1151R → H in IRID2. 1 Publication
VAR_003765
Natural varianti130 – 1301R → W in IRID2. 1 Publication
VAR_003762
Peters anomaly (PETAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Ring dermoid of cornea (RDC) [MIM:180550]: An ocular disorder characterized by bilateral annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti108 – 1081R → H in RDC; results in 25% loss of transactivation activity. 2 Publications
VAR_035027

Keywords - Diseasei

Disease mutation, Peters anomaly

Organism-specific databases

MIMi137600. phenotype.
180500. phenotype.
180550. phenotype.
604229. phenotype.
Orphaneti98978. Axenfeld anomaly.
782. Axenfeld-Rieger syndrome.
334. Familial atrial fibrillation.
708. Peters anomaly.
91483. Rieger anomaly.
91481. Ring dermoid of cornea.
PharmGKBiPA33339.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 317317Pituitary homeobox 2
PRO_0000049223Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei90 – 901Phosphothreonine; by PKB/AKT2 By similarity

Post-translational modificationi

Phosphorylation at Thr-90 impairs its association with the CCND1 mRNA-stabilizing complex thus shortening the half-life of CCND1 By similarity.

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ99697.
PaxDbiQ99697.
PRIDEiQ99697.

Expressioni

Gene expression databases

ArrayExpressiQ99697.
BgeeiQ99697.
CleanExiHS_PITX2.
GenevestigatoriQ99697.

Organism-specific databases

HPAiHPA050074.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
FOXC1Q129486EBI-1175243,EBI-1175253
Hoxa1P090223EBI-1175211,EBI-3957603From a different organism.
YBX1P678093EBI-1175211,EBI-354065

Protein-protein interaction databases

BioGridi111325. 14 interactions.
IntActiQ99697. 12 interactions.
STRINGi9606.ENSP00000304169.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi86 – 883
Beta strandi90 – 923
Helixi94 – 10613
Helixi112 – 12211
Helixi126 – 14116

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2L7FNMR-P85-144[»]
2L7MNMR-P85-144[»]
2LKXNMR-A85-144[»]
ProteinModelPortaliQ99697.
SMRiQ99697. Positions 85-144.

Miscellaneous databases

EvolutionaryTraceiQ99697.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi279 – 29214OAR
Add
BLAST
Motifi285 – 2895Nuclear localization signal Reviewed prediction

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG249113.
HOVERGENiHBG068770.
KOiK04686.
OMAiDMYPSYT.
OrthoDBiEOG7VTDNW.
PhylomeDBiQ99697.
TreeFamiTF351940.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR016233. Homeobox_Pitx/unc30.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
PIRSFiPIRSF000563. Homeobox_protein_Pitx/Unc30. 1 hit.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform PTX2B (identifier: Q99697-1) [UniParc]FASTAAdd to Basket

Also known as: ARP1B

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

METNCRKLVS ACVQLGVQPA AVECLFSKDS EIKKVEFTDS PESRKEAASS    50
KFFPRQHPGA NEKDKSQQGK NEDVGAEDPS KKKRQRRQRT HFTSQQLQEL 100
EATFQRNRYP DMSTREEIAV WTNLTEARVR VWFKNRRAKW RKRERNQQAE 150
LCKNGFGPQF NGLMQPYDDM YPGYSYNNWA AKGLTSASLS TKSFPFFNSM 200
NVNPLSSQSM FSPPNSISSM SMSSSMVPSA VTGVPGSSLN SLNNLNNLSS 250
PSLNSAVPTP ACPYAPPTPP YVYRDTCNSS LASLRLKAKQ HSSFGYASVQ 300
NPASNLSACQ YAVDRPV 317
Length:317
Mass (Da):35,370
Last modified:July 15, 1999 - v2
Checksum:i00853AFDBA4433CB
GO
Isoform PTX2C (identifier: Q99697-2) [UniParc]FASTAAdd to Basket

Also known as: ARP1C

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: METNCRKLVS...FFPRQHPGAN → MNCMKGPLHL...ISDTSSPEAA

Show »
Length:324
Mass (Da):35,796
Checksum:i7379DD12E1B0013C
GO
Isoform PTX2A (identifier: Q99697-3) [UniParc]FASTAAdd to Basket

Also known as: ARP1A

The sequence of this isoform differs from the canonical sequence as follows:
     16-61: Missing.

Show »
Length:271
Mass (Da):30,336
Checksum:i45D2ADA6DF03FF65
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti100 – 1001L → Q in RIEG1. 1 Publication
VAR_003763
Natural varianti108 – 1081R → H in RDC; results in 25% loss of transactivation activity. 2 Publications
VAR_035027
Natural varianti110 – 1101P → L in RIEG1. 2 Publications
VAR_058735
Natural varianti110 – 1101P → R in RIEG1. 1 Publication
VAR_058736
Natural varianti114 – 1141T → P in RIEG1. 1 Publication
VAR_003764
Natural varianti115 – 1151R → H in IRID2. 1 Publication
VAR_003765
Natural varianti128 – 1347Missing in RIEG1; more than 100-fold reduction in DNA binding activity as well as no detectable transactivation activity.
VAR_035028
Natural varianti129 – 1291V → L in RIEG1; more than 200% increase in transactivation activity. 1 Publication
VAR_035029
Natural varianti130 – 1301R → W in IRID2. 1 Publication
VAR_003762
Natural varianti134 – 1341K → E in RIEG1. 1 Publication
VAR_058737
Natural varianti136 – 1361R → C in RIEG1. 2 Publications
VAR_058738
Natural varianti137 – 1371R → P in RIEG1. 1 Publication
VAR_003766
Natural varianti151 – 1511L → V in RIEG1. 1 Publication
VAR_058739
Natural varianti154 – 1541N → T in RIEG1. 1 Publication
VAR_058740

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6161METNC…HPGAN → MNCMKGPLHLEHRAAGTKLS AVSSSSCHHPQPLAMASVLA PGQPRSLDSSKHRLEVHTIS DTSSPEAA in isoform PTX2C.
VSP_002260Add
BLAST
Alternative sequencei16 – 6146Missing in isoform PTX2A.
VSP_002261Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti13 – 131V → L1 Publication
Sequence conflicti13 – 131V → L1 Publication
Sequence conflicti99 – 991E → Q in AAC16257. 1 Publication
Sequence conflicti127 – 1271A → T in BAF84280. 1 Publication
Sequence conflicti301 – 3011N → K1 Publication
Sequence conflicti301 – 3011N → K1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U69961 mRNA. Translation: AAC16257.1.
AF048720 mRNA. Translation: AAC39716.1.
AF048721 mRNA. Translation: AAC39717.1.
AF048722 mRNA. Translation: AAC39718.1.
AF238048 Genomic DNA. Translation: AAK15048.1.
AK127829 mRNA. Translation: BAG54582.1.
AK291591 mRNA. Translation: BAF84280.1.
AK313987 mRNA. Translation: BAG36699.1.
CH471057 Genomic DNA. Translation: EAX06262.1.
CH471057 Genomic DNA. Translation: EAX06263.1.
CH471057 Genomic DNA. Translation: EAX06264.1.
BC013998 mRNA. Translation: AAH13998.1.
BC106010 mRNA. Translation: AAI06011.1.
CCDSiCCDS3692.1. [Q99697-1]
CCDS3693.1. [Q99697-3]
CCDS3694.1. [Q99697-2]
RefSeqiNP_000316.2. NM_000325.5. [Q99697-2]
NP_001191326.1. NM_001204397.1. [Q99697-1]
NP_001191327.1. NM_001204398.1. [Q99697-1]
NP_001191328.1. NM_001204399.1. [Q99697-3]
NP_700475.1. NM_153426.2. [Q99697-1]
NP_700476.1. NM_153427.2. [Q99697-3]
XP_006714298.1. XM_006714235.1. [Q99697-1]
UniGeneiHs.643588.
Hs.738484.

Genome annotation databases

EnsembliENST00000306732; ENSP00000304169; ENSG00000164093. [Q99697-2]
ENST00000354925; ENSP00000347004; ENSG00000164093. [Q99697-1]
ENST00000355080; ENSP00000347192; ENSG00000164093. [Q99697-3]
ENST00000394598; ENSP00000378097; ENSG00000164093. [Q99697-1]
GeneIDi5308.
KEGGihsa:5308.
UCSCiuc003iac.3. human. [Q99697-2]
uc003iad.3. human. [Q99697-1]
uc003iae.3. human. [Q99697-3]

Polymorphism databases

DMDMi6174907.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U69961 mRNA. Translation: AAC16257.1 .
AF048720 mRNA. Translation: AAC39716.1 .
AF048721 mRNA. Translation: AAC39717.1 .
AF048722 mRNA. Translation: AAC39718.1 .
AF238048 Genomic DNA. Translation: AAK15048.1 .
AK127829 mRNA. Translation: BAG54582.1 .
AK291591 mRNA. Translation: BAF84280.1 .
AK313987 mRNA. Translation: BAG36699.1 .
CH471057 Genomic DNA. Translation: EAX06262.1 .
CH471057 Genomic DNA. Translation: EAX06263.1 .
CH471057 Genomic DNA. Translation: EAX06264.1 .
BC013998 mRNA. Translation: AAH13998.1 .
BC106010 mRNA. Translation: AAI06011.1 .
CCDSi CCDS3692.1. [Q99697-1 ]
CCDS3693.1. [Q99697-3 ]
CCDS3694.1. [Q99697-2 ]
RefSeqi NP_000316.2. NM_000325.5. [Q99697-2 ]
NP_001191326.1. NM_001204397.1. [Q99697-1 ]
NP_001191327.1. NM_001204398.1. [Q99697-1 ]
NP_001191328.1. NM_001204399.1. [Q99697-3 ]
NP_700475.1. NM_153426.2. [Q99697-1 ]
NP_700476.1. NM_153427.2. [Q99697-3 ]
XP_006714298.1. XM_006714235.1. [Q99697-1 ]
UniGenei Hs.643588.
Hs.738484.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2L7F NMR - P 85-144 [» ]
2L7M NMR - P 85-144 [» ]
2LKX NMR - A 85-144 [» ]
ProteinModelPortali Q99697.
SMRi Q99697. Positions 85-144.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111325. 14 interactions.
IntActi Q99697. 12 interactions.
STRINGi 9606.ENSP00000304169.

Polymorphism databases

DMDMi 6174907.

Proteomic databases

MaxQBi Q99697.
PaxDbi Q99697.
PRIDEi Q99697.

Protocols and materials databases

DNASUi 5308.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000306732 ; ENSP00000304169 ; ENSG00000164093 . [Q99697-2 ]
ENST00000354925 ; ENSP00000347004 ; ENSG00000164093 . [Q99697-1 ]
ENST00000355080 ; ENSP00000347192 ; ENSG00000164093 . [Q99697-3 ]
ENST00000394598 ; ENSP00000378097 ; ENSG00000164093 . [Q99697-1 ]
GeneIDi 5308.
KEGGi hsa:5308.
UCSCi uc003iac.3. human. [Q99697-2 ]
uc003iad.3. human. [Q99697-1 ]
uc003iae.3. human. [Q99697-3 ]

Organism-specific databases

CTDi 5308.
GeneCardsi GC04M111538.
GeneReviewsi PITX2.
HGNCi HGNC:9005. PITX2.
HPAi HPA050074.
MIMi 137600. phenotype.
180500. phenotype.
180550. phenotype.
601542. gene.
604229. phenotype.
neXtProti NX_Q99697.
Orphaneti 98978. Axenfeld anomaly.
782. Axenfeld-Rieger syndrome.
334. Familial atrial fibrillation.
708. Peters anomaly.
91483. Rieger anomaly.
91481. Ring dermoid of cornea.
PharmGKBi PA33339.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG249113.
HOVERGENi HBG068770.
KOi K04686.
OMAi DMYPSYT.
OrthoDBi EOG7VTDNW.
PhylomeDBi Q99697.
TreeFami TF351940.

Enzyme and pathway databases

SignaLinki Q99697.

Miscellaneous databases

ChiTaRSi PITX2. human.
EvolutionaryTracei Q99697.
GeneWikii PITX2.
GenomeRNAii 5308.
NextBioi 20518.
PROi Q99697.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q99697.
Bgeei Q99697.
CleanExi HS_PITX2.
Genevestigatori Q99697.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR016233. Homeobox_Pitx/unc30.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view ]
PIRSFi PIRSF000563. Homeobox_protein_Pitx/Unc30. 1 hit.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome."
    Semina E.V., Reiter R., Leysens N.J., Alward W.L.M., Small K.W., Datson N.A., Siegle-Bartelt J., Bierke-Nelson D., Bitoun P., Zabel B.U., Carey J.C., Murray J.C.
    Nat. Genet. 14:392-399(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM PTX2B), VARIANTS RIEG1 GLN-100; PRO-114 AND PRO-137.
    Tissue: Craniofacial and Fetal brain.
  2. "Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene."
    Arakawa H., Nakamura T., Zhadanov A.B., Fidanza Y., Yano T., Bullrich F., Shimizu M., Blechman J., Mazo A., Canaani E., Croce C.M.
    Proc. Natl. Acad. Sci. U.S.A. 95:4573-4578(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PTX2A; PTX2B AND PTX2C), ALTERNATIVE SPLICING.
  3. "Spectrum and frequency of PITX2 mutations in patients with Rieger syndrome and related ocular anomalies."
    Semina E.V., Funkhauser C., Bitoun P., Daack-Hirsch S., Alward W.L.M., Amendt B., Murray J.C.
    Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM PTX2A).
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS PTX2A; PTX2B AND PTX2C).
    Tissue: Placenta and Tongue.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS PTX2C AND PTX2A).
    Tissue: Lung and Uterus.
  7. "Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant."
    Doerdelmann T., Kojetin D.J., Baird-Titus J.M., Solt L.A., Burris T.P., Rance M.
    Biochemistry 51:665-676(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 85-144 OF WILD-TYPE AND MUTANT HIS-108 IN COMPLEX WITH DNA, VARIANT RDC HIS-108.
  8. "Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene."
    Alward W.L.M., Semina E.V., Kalenak J.W., Heon E., Sheth B.P., Stone E.M., Murray J.C.
    Am. J. Ophthalmol. 125:98-100(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT IRID2 TRP-130.
  9. "Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome."
    Kulak S.C., Kozlowski K., Semina E.V., Pearce W.G., Walter M.A.
    Hum. Mol. Genet. 7:1113-1117(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT IRID2 HIS-115.
  10. "A mutation in the RIEG1 gene associated with Peters' anomaly."
    Doward W., Perveen R., Lloyd I.C., Ridgway A.E.A., Wilson L., Black G.C.M.
    J. Med. Genet. 36:152-155(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN PETAN.
  11. "Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations."
    Perveen R., Lloyd I.C., Clayton-Smith J., Churchill A., van Heyningen V., Hanson I., Taylor D., McKeown C., Super M., Kerr B., Winter R., Black G.C.M.
    Invest. Ophthalmol. Vis. Sci. 41:2456-2460(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RIEG1 GLU-134 AND CYS-136.
  12. "Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome."
    Priston M., Kozlowski K., Gill D., Letwin K., Buys Y., Levin A.V., Walter M.A., Heon E.
    Hum. Mol. Genet. 10:1631-1638(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RIEG1 ARG-128--134-LYS DEL AND LEU-129, CHARACTERIZATION OF VARIANTS RIEG1 ARG-128--134-LYS DEL AND LEU-129.
  13. "Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome."
    Phillips J.C.
    Ophthalmic Res. 34:324-326(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RIEG1 LEU-110; CYS-136; VAL-151 AND THR-154.
  14. "Mutation in PITX2 is associated with ring dermoid of the cornea."
    Xia K., Wu L., Liu X., Xi X., Liang D., Zheng D., Cai F., Pan Q., Long Z., Dai H., Hu Z., Tang B., Zhang Z., Xia J.
    J. Med. Genet. 41:E129-E129(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RDC HIS-108.
  15. "Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations."
    Weisschuh N., Dressler P., Schuettauf F., Wolf C., Wissinger B., Gramer E.
    Invest. Ophthalmol. Vis. Sci. 47:3846-3852(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RIEG1 LEU-110 AND ARG-110.
  16. Erratum
    Weisschuh N., Dressler P., Schuettauf F., Wolf C., Wissinger B., Gramer E.
    Invest. Ophthalmol. Vis. Sci. 47:5162-5162(2006)

Entry informationi

Entry nameiPITX2_HUMAN
AccessioniPrimary (citable) accession number: Q99697
Secondary accession number(s): A8K6C6
, B2RA02, B3KXS0, O60578, O60579, O60580, Q3KQX9, Q9BY17
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 15, 1999
Last modified: July 9, 2014
This is version 157 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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