PITX2

GENE INFORMATION

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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 (Chromosome progress)

Cytoband

q25

Chromosome location (bp)

111538579 - 111563279

Ensembl

ENSG00000164093 (version 73.37)

Entrez gene

5308

UniProt

Q99697 (UniProt - Evidence at protein level)

neXtProt

NX_Q99697

Antibodypedia

PITX2 antibodies
 

PROTEIN VIEW

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PITX2-001
 
PITX2-002
 
PITX2-003
 
PITX2-004
 
PITX2-005
 
PITX2-006
 
PITX2-007
 
PITX2-010
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PITX2-001 ENSP00000378097
ENST00000394598
Q99697
Show all »
Show » Show » 317 35.4 No 0
PITX2-002 ENSP00000347192
ENST00000355080
Q99697
Show all »
Show » Show » 271 30.3 No 0
PITX2-003 ENSP00000347004
ENST00000354925
Q99697
Show all »
Show » Show » 317 35.4 No 0
PITX2-004 ENSP00000378095
ENST00000394595
A8MUL9
Show all »
174 19.7 No 0
PITX2-005 ENSP00000304169
ENST00000306732
Q99697
Show all »
Show » Show » 324 35.8 No 0
PITX2-006 ENSP00000421454
ENST00000511837
D6RFI4
Show all »
Show » Show » 290 32.5 No 0
PITX2-007 ENSP00000424142
ENST00000511990
D6RBG8
Show all »
Show » Show » 118 14.1 No 0
PITX2-010 ENSP00000475617
ENST00000557119
Show » 264 28.8 No 0