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PITX2

GENERAL INFORMATION

Gene name

 PITX2

Gene description

 Paired-like homeodomain 2

Protein class

 Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 11
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (placenta)
GTEx:Tissue enhanced (urinary bladder, pituitary gland, skeletal muscle)
FANTOM5:Tissue enhanced (retina)

Protein evidence

 Evidence at protein level

DATA RELIABILITY

Reliability score

 Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (placenta)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (urinary bladder, pituitary gland, skeletal muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (retina)

GENE INFORMATION

Gene name

 PITX2 (HGNC Symbol)

Synonyms

 ARP1, Brx1, IGDS, IHG2, IRID2, Otlx2, RGS, RIEG, RIEG1, RS

Description

 Paired-like homeodomain 2 (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

Chromosome

 4

Cytoband

 q25

Chromosome location (bp)

 110617423 - 110642123

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000164093 (version 83.38)

Entrez gene

 5308

UniProt

 Q99697 (UniProt - Evidence at protein level)

neXtProt

 NX_Q99697

Antibodypedia

 PITX2 antibodies

PROTEIN BROWSER
«
PITX2-001
PITX2-002
PITX2-003
PITX2-004
PITX2-005
PITX2-006
PITX2-007
PITX2-010
PITX2-201
PITX2-202
PITX2-203
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PITX2-001
ENSP00000378097
ENST00000394598
Q99697 [Direct mapping]
Pituitary homeobox 2
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000976 [transcription regulatory region sequence-specific DNA binding]
GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001085 [RNA polymerase II transcription factor binding]
GO:0001102 [RNA polymerase II activating transcription factor binding]
GO:0001105 [RNA polymerase II transcription coactivator activity]
GO:0001191 [transcriptional repressor activity, RNA polymerase II transcription factor binding]
GO:0003253 [cardiac neural crest cell migration involved in outflow tract morphogenesis]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0007368 [determination of left/right symmetry]
GO:0008134 [transcription factor binding]
GO:0035315 [hair cell differentiation]
GO:0035993 [deltoid tuberosity development]
GO:0042476 [odontogenesis]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043010 [camera-type eye development]
GO:0043021 [ribonucleoprotein complex binding]
GO:0043565 [sequence-specific DNA binding]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048536 [spleen development]
GO:0051219 [phosphoprotein binding]
GO:0060126 [somatotropin secreting cell differentiation]
GO:0060127 [prolactin secreting cell differentiation]
GO:0061072 [iris morphogenesis]
GO:0061325 [cell proliferation involved in outflow tract morphogenesis]
GO:0070986 [left/right axis specification]
Show all
 317 aa
35.4 kDa 		No 0
PITX2-002
ENSP00000347192
ENST00000355080
Q99697 [Direct mapping]
Pituitary homeobox 2
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000976 [transcription regulatory region sequence-specific DNA binding]
GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001085 [RNA polymerase II transcription factor binding]
GO:0001102 [RNA polymerase II activating transcription factor binding]
GO:0001105 [RNA polymerase II transcription coactivator activity]
GO:0001191 [transcriptional repressor activity, RNA polymerase II transcription factor binding]
GO:0003253 [cardiac neural crest cell migration involved in outflow tract morphogenesis]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0007368 [determination of left/right symmetry]
GO:0008134 [transcription factor binding]
GO:0035315 [hair cell differentiation]
GO:0035993 [deltoid tuberosity development]
GO:0042476 [odontogenesis]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043010 [camera-type eye development]
GO:0043021 [ribonucleoprotein complex binding]
GO:0043565 [sequence-specific DNA binding]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048536 [spleen development]
GO:0051219 [phosphoprotein binding]
GO:0060126 [somatotropin secreting cell differentiation]
GO:0060127 [prolactin secreting cell differentiation]
GO:0061072 [iris morphogenesis]
GO:0061325 [cell proliferation involved in outflow tract morphogenesis]
GO:0070986 [left/right axis specification]
Show all
 271 aa
30.3 kDa 		No 0
PITX2-003
ENSP00000347004
ENST00000354925
Q99697 [Direct mapping]
Pituitary homeobox 2
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000976 [transcription regulatory region sequence-specific DNA binding]
GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001085 [RNA polymerase II transcription factor binding]
GO:0001102 [RNA polymerase II activating transcription factor binding]
GO:0001105 [RNA polymerase II transcription coactivator activity]
GO:0001191 [transcriptional repressor activity, RNA polymerase II transcription factor binding]
GO:0003253 [cardiac neural crest cell migration involved in outflow tract morphogenesis]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0007368 [determination of left/right symmetry]
GO:0008134 [transcription factor binding]
GO:0035315 [hair cell differentiation]
GO:0035993 [deltoid tuberosity development]
GO:0042476 [odontogenesis]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043010 [camera-type eye development]
GO:0043021 [ribonucleoprotein complex binding]
GO:0043565 [sequence-specific DNA binding]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048536 [spleen development]
GO:0051219 [phosphoprotein binding]
GO:0060126 [somatotropin secreting cell differentiation]
GO:0060127 [prolactin secreting cell differentiation]
GO:0061072 [iris morphogenesis]
GO:0061325 [cell proliferation involved in outflow tract morphogenesis]
GO:0070986 [left/right axis specification]
Show all
 317 aa
35.4 kDa 		No 0
PITX2-004
ENSP00000378095
ENST00000394595
A8MUL9 [Direct mapping]
Pituitary homeobox 2
Show all
Predicted intracellular proteins
Show all
 174 aa
19.7 kDa 		No 0
PITX2-005
ENSP00000304169
ENST00000306732
Q99697 [Direct mapping]
Pituitary homeobox 2
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000976 [transcription regulatory region sequence-specific DNA binding]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001085 [RNA polymerase II transcription factor binding]
GO:0001102 [RNA polymerase II activating transcription factor binding]
GO:0001105 [RNA polymerase II transcription coactivator activity]
GO:0001191 [transcriptional repressor activity, RNA polymerase II transcription factor binding]
GO:0001569 [patterning of blood vessels]
GO:0001570 [vasculogenesis]
GO:0001701 [in utero embryonic development]
GO:0001764 [neuron migration]
GO:0002074 [extraocular skeletal muscle development]
GO:0003171 [atrioventricular valve development]
GO:0003253 [cardiac neural crest cell migration involved in outflow tract morphogenesis]
GO:0003350 [pulmonary myocardium development]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0007368 [determination of left/right symmetry]
GO:0007420 [brain development]
GO:0007507 [heart development]
GO:0007519 [skeletal muscle tissue development]
GO:0007520 [myoblast fusion]
GO:0008134 [transcription factor binding]
GO:0008584 [male gonad development]
GO:0008585 [female gonad development]
GO:0009653 [anatomical structure morphogenesis]
GO:0009725 [response to hormone]
GO:0009887 [organ morphogenesis]
GO:0016055 [Wnt signaling pathway]
GO:0021763 [subthalamic nucleus development]
GO:0021855 [hypothalamus cell migration]
GO:0021983 [pituitary gland development]
GO:0030182 [neuron differentiation]
GO:0030324 [lung development]
GO:0030334 [regulation of cell migration]
GO:0031076 [embryonic camera-type eye development]
GO:0031490 [chromatin DNA binding]
GO:0033189 [response to vitamin A]
GO:0035116 [embryonic hindlimb morphogenesis]
GO:0035315 [hair cell differentiation]
GO:0035886 [vascular smooth muscle cell differentiation]
GO:0035993 [deltoid tuberosity development]
GO:0042127 [regulation of cell proliferation]
GO:0042475 [odontogenesis of dentin-containing tooth]
GO:0042476 [odontogenesis]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043010 [camera-type eye development]
GO:0043021 [ribonucleoprotein complex binding]
GO:0043388 [positive regulation of DNA binding]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048536 [spleen development]
GO:0048557 [embryonic digestive tract morphogenesis]
GO:0048738 [cardiac muscle tissue development]
GO:0051219 [phosphoprotein binding]
GO:0055007 [cardiac muscle cell differentiation]
GO:0055009 [atrial cardiac muscle tissue morphogenesis]
GO:0055015 [ventricular cardiac muscle cell development]
GO:0055123 [digestive system development]
GO:0060126 [somatotropin secreting cell differentiation]
GO:0060127 [prolactin secreting cell differentiation]
GO:0060412 [ventricular septum morphogenesis]
GO:0060460 [left lung morphogenesis]
GO:0060577 [pulmonary vein morphogenesis]
GO:0060578 [superior vena cava morphogenesis]
GO:0061031 [endodermal digestive tract morphogenesis]
GO:0061072 [iris morphogenesis]
GO:0061325 [cell proliferation involved in outflow tract morphogenesis]
GO:0070986 [left/right axis specification]
GO:2000288 [positive regulation of myoblast proliferation]
Show all
 324 aa
35.8 kDa 		No 0
PITX2-006
ENSP00000421454
ENST00000511837
D6RFI4 [Direct mapping]
Pituitary homeobox 2
Show all
Predicted intracellular proteins
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0043565 [sequence-specific DNA binding]
Show all
 290 aa
32.5 kDa 		No 0
PITX2-007
ENSP00000424142
ENST00000511990
D6RBG8 [Direct mapping]
Pituitary homeobox 2
Show all
Predicted intracellular proteins
Show all
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0043565 [sequence-specific DNA binding]
Show all
 118 aa
14.1 kDa 		No 0
PITX2-010
ENSP00000475617
ENST00000557119
U3KQ81 [Direct mapping]
Pituitary homeobox 2
Show all
Predicted intracellular proteins
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005634 [nucleus]
Show all
 264 aa
28.8 kDa 		No 0
PITX2-201
ENSP00000484763
ENST00000613094
Q99697 [Direct mapping]
Pituitary homeobox 2
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000976 [transcription regulatory region sequence-specific DNA binding]
GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001085 [RNA polymerase II transcription factor binding]
GO:0001102 [RNA polymerase II activating transcription factor binding]
GO:0001105 [RNA polymerase II transcription coactivator activity]
GO:0001191 [transcriptional repressor activity, RNA polymerase II transcription factor binding]
GO:0003253 [cardiac neural crest cell migration involved in outflow tract morphogenesis]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0007368 [determination of left/right symmetry]
GO:0008134 [transcription factor binding]
GO:0035315 [hair cell differentiation]
GO:0035993 [deltoid tuberosity development]
GO:0042476 [odontogenesis]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043010 [camera-type eye development]
GO:0043021 [ribonucleoprotein complex binding]
GO:0043565 [sequence-specific DNA binding]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048536 [spleen development]
GO:0051219 [phosphoprotein binding]
GO:0060126 [somatotropin secreting cell differentiation]
GO:0060127 [prolactin secreting cell differentiation]
GO:0061072 [iris morphogenesis]
GO:0061325 [cell proliferation involved in outflow tract morphogenesis]
GO:0070986 [left/right axis specification]
Show all
 317 aa
35.4 kDa 		No 0
PITX2-202
ENSP00000481951
ENST00000614423
Q99697 [Direct mapping]
Pituitary homeobox 2
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000976 [transcription regulatory region sequence-specific DNA binding]
GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001085 [RNA polymerase II transcription factor binding]
GO:0001102 [RNA polymerase II activating transcription factor binding]
GO:0001105 [RNA polymerase II transcription coactivator activity]
GO:0001191 [transcriptional repressor activity, RNA polymerase II transcription factor binding]
GO:0003253 [cardiac neural crest cell migration involved in outflow tract morphogenesis]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0007368 [determination of left/right symmetry]
GO:0008134 [transcription factor binding]
GO:0035315 [hair cell differentiation]
GO:0035993 [deltoid tuberosity development]
GO:0042476 [odontogenesis]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043010 [camera-type eye development]
GO:0043021 [ribonucleoprotein complex binding]
GO:0043565 [sequence-specific DNA binding]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048536 [spleen development]
GO:0051219 [phosphoprotein binding]
GO:0060126 [somatotropin secreting cell differentiation]
GO:0060127 [prolactin secreting cell differentiation]
GO:0061072 [iris morphogenesis]
GO:0061325 [cell proliferation involved in outflow tract morphogenesis]
GO:0070986 [left/right axis specification]
Show all
 317 aa
35.4 kDa 		No 0
PITX2-203
ENSP00000484909
ENST00000616641
Q99697 [Direct mapping]
Pituitary homeobox 2
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000976 [transcription regulatory region sequence-specific DNA binding]
GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001085 [RNA polymerase II transcription factor binding]
GO:0001102 [RNA polymerase II activating transcription factor binding]
GO:0001105 [RNA polymerase II transcription coactivator activity]
GO:0001191 [transcriptional repressor activity, RNA polymerase II transcription factor binding]
GO:0003253 [cardiac neural crest cell migration involved in outflow tract morphogenesis]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0007368 [determination of left/right symmetry]
GO:0008134 [transcription factor binding]
GO:0035315 [hair cell differentiation]
GO:0035993 [deltoid tuberosity development]
GO:0042476 [odontogenesis]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043010 [camera-type eye development]
GO:0043021 [ribonucleoprotein complex binding]
GO:0043565 [sequence-specific DNA binding]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048536 [spleen development]
GO:0051219 [phosphoprotein binding]
GO:0060126 [somatotropin secreting cell differentiation]
GO:0060127 [prolactin secreting cell differentiation]
GO:0061072 [iris morphogenesis]
GO:0061325 [cell proliferation involved in outflow tract morphogenesis]
GO:0070986 [left/right axis specification]
Show all
 271 aa
30.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.