| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5308 |
Name | PITX2 |
Synonymous | ARP1|Brx1|IDG2|IGDS|IGDS2|IHG2|IRID2|Otlx2|PTX2|RGS|RIEG|RIEG1|RS;paired-like homeodomain 2;PITX2;paired-like homeodomain 2 |
Definition | ALL1-responsive protein ARP1|all1-responsive gene 1|homeobox protein PITX2|paired-like homeodomain transcription factor 2|pituitary homeo box 2|pituitary homeobox 2|rieg bicoid-related homeobox transcription factor 1|solurshin |
Position | 4q25 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PITX2 | ||
PCGP somatic mutation [Top] | ||
There is no record for PITX2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.454C>T; p.R152C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.304C>T; p.Q102*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.847A>G; p.T283A; |
lung | carcinoma; adenocarcinoma |
c.621G>A; p.M207I; |
lung | carcinoma; adenocarcinoma |
c.732C>A; p.S244S; |
lung | carcinoma; small_cell_carcinoma |
c.580G>A; p.A194T; |
prostate | adenoma |
c.455G>A; p.R152H; |
autonomic_ganglia | neuroblastoma |
c.941G>C; p.S314T; |
ovary | carcinoma; serous_carcinoma |
c.121C>A; p.P41T; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.661C>A; p.P221T; |
lung | carcinoma; squamous_cell_carcinoma |
c.395C>T; p.T132M; |
lung | carcinoma; squamous_cell_carcinoma |
c.964C>T; p.R322W; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.770G>A; p.S257N; |
lung | carcinoma; adenocarcinoma |
c.350C>T; p.P117L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.587T>A; p.L196Q; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.813C>T; p.Y271Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.848C>T; p.T283M; |
large_intestine; colon | NS |
c.610T>G; p.F204V; |
breast | carcinoma |
c.527A>T; p.D176V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.743G>T; p.S248I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.370G>C; p.E124Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.886A>G; p.K296E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.672C>A; p.I224I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.22C>T; p.L8F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.522C>G; p.Y174*; |
breast | carcinoma |
c.797C>T; p.T266M; |
breast | carcinoma |
c.639A>G; p.S213S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.838delT; p.Y280fs*12; |
endometrium | carcinoma; endometrioid_carcinoma |
c.498G>A; p.Q166Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.469G>A; p.E157K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.78C>A; p.S26S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.743G>T; p.S248I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.689C>T; p.S230L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.264G>A; p.K88K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.738C>T; p.L246L; |
urinary_tract; bladder | carcinoma |