QuickView for PITX2;jsessionid=1C29E3B8784D6D316B78B7A7FABD91E0 (gene)

Gene Symbol:

PITX2 Homo sapiens

Full name:

paired like homeodomain 2

Synonyms:

ARP1, ASGD4, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS, pituitary homeobox 2, ALL1-responsive protein ARP1, all1-responsive gene 1, homeobox protein PITX2, paired-like homeodomain transcription factor 2, rieg bicoid-related homeobox transcription factor 1, solurshin

Genomic Location:

Chr 4: 111758028-111777957

Description:

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...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CGTSACG_PAX3_B ,  NFAT_Q4_01 ,  TGGAAA_NFAT_Q4_01 ,  FOXO1_02 ,  POU6F1_01 ,  GATTGGY_NFY_Q6_01 ,  IRF1_01 ,  PBX1_02 ,  RTAAACA_FREAC2_01 ,  CMYB_01 ,  PAX4_04 ,  ATAAGCT_MIR21 ,  HNF3ALPHA_Q6 ,  STAT4_01 ,  AGCYRWTTC_UNKNOWN ,  GATA1_03 ,  DR3_Q4 ,  TTANTCA_UNKNOWN ,  CREBP1CJUN_01 ,  ATF6_01 ,  CREB_Q4_01 ,  RYTTCCTG_ETS2_B ,  OCT1_04 ,  AREB6_02 ,  NFAT_Q6 ,  HOXA4_Q2 ,  YATGNWAAT_OCT_C ,  TTGCWCAAY_CEBPB_02 ,  SYATTGTG_UNKNOWN ,  NGFIC_01 ,  HFH1_01 ,  TGTGTGA_MIR377 ,  ATF4_Q2 ,  CEBP_Q2_01 ,  IPF1_Q4 ,  HP1SITEFACTOR_Q6 ,  VDR_Q6 ,  LYF1_01 ,  CAGTGTT_MIR141_MIR200A ,  WGTTNNNNNAAA_UNKNOWN ,  AP2GAMMA_01 ,  GATAAGR_GATA_C ,  FAC1_01 ,  CTTTGA_LEF1_Q2 ,  IRF1_Q6 ,  COUP_01 ,  AP2ALPHA_01 ,  CTAWWWATA_RSRFC4_Q2 ,  RFX1_01 ,  GATA1_04 ,  CREB_Q4 ,  TGACCTY_ERR1_Q2 ,  CREB_Q3 ,  WTGAAAT_UNKNOWN ,  OSF2_Q6 ,  GGGAGGRR_MAZ_Q6 ,  TGAYRTCA_ATF3_Q6 ,  ATF_B ,  HNF4_01 ,  CREBP1_Q2 ,  TATAAA_TATA_01 ,  AR_Q6 ,  CEBPB_01 ,  CDP_02 ,  PAX4_02 ,  FOXO3_01 ,  CAGGTA_AREB6_01 ,  GTGACGY_E4F1_Q6 ,  GGATTA_PITX2_Q2 ,  CAGNYGKNAAA_UNKNOWN ,  AP4_01 ,  PXR_Q2 ,  LHX3_01 ,  TST1_01 ,  TATA_C ,  CREB_02 ,  GGGCGGR_SP1_Q6 ,  TGCTGAY_UNKNOWN ,  PITX2_Q2 ,  CEBPB_02 ,  ATGTTTC_MIR494 ,  LMO2COM_02 ,  GATA6_01 ,  HIF1_Q5 ,  NERF_Q2 ,  E4F1_Q6 ,  NKX25_02 ,  FOXO1_01 ,  IRF_Q6 ,  ACTGAAA_MIR30A3P_MIR30E3P ,  CTTTAAR_UNKNOWN ,  TGCCAAR_NF1_Q6 ,  TGTTTGY_HNF3_Q6 ,  GATA1_02 ,  OCT1_06 ,  YCATTAA_UNKNOWN ,  RNGTGGGC_UNKNOWN ,  HMGIY_Q6 ,  FREAC2_01 ,  CEBP_Q3 ,  CHX10_01 ,  TAATTA_CHX10_01 ,  TTGTTT_FOXO4_01 ,  SCGGAAGY_ELK1_02 ,  PIT1_Q6 ,  STAT5A_04 ,  GATA1_05 ,  IRF7_01 ,  CREB_Q2 ,  RGAGGAARY_PU1_Q6 ,  CP2_02 ,  TGACGTCA_ATF3_Q6 ,  GTGGGTGK_UNKNOWN ,  RORA2_01 ,  TGATTTRY_GFI1_01 ,  TGACAGNY_MEIS1_01 ,  CTTTGT_LEF1_Q2 ,  AAAGGAT_MIR501 ,  ZF5_B ,  FOXM1_01 ,  AAACCAC_MIR140 ,  AACTTT_UNKNOWN ,  CRX_Q4 ,  TCF1P_Q6 ,  CREB_Q2_01 ,  STTTCRNTTT_IRF_Q6 ,  CREB_01 ,  FREAC4_01 ,  FOXO4_02 ,  TATTATA_MIR374 ,  GGGTGGRR_PAX4_03

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-141 ,  Predicted Gene Targets for miR-21 ,  Predicted Gene Targets for miR-30-3p ,  Predicted Gene Targets for miR-369-3p ,  Predicted Gene Targets for miR-377 ,  Predicted Gene Targets for miR-494 ,  Predicted Gene Targets for miR-140 ,  Predicted Gene Targets for miR-203 ,  Predicted Gene Targets for miR-374

Cytogenetic Map:

4q25

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