CITED2

Chr 6q24.1

Cbp/p300 interacting transactivator with ED-rich tail 2

Aliases:: MRG1
MANE:: ENST00000367651.4

OMIM: 602937 ↗NCBI: 10370 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CITED2 · Q99967

v62025-08-01

Predicted Aligned Error matrix for CITED2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

51.5/ 100

Low

270 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)9%
Low(50–70)34%
Very low(< 50)57%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial non syndromic congenital heart disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

atrial septal defect 8
0.62
ventricular septal defect 2
0.53
Abnormality of the skeletal system
0.45
atrial septal defect, sinus venosus type
0.38
atrial septal defect, ostium secundum type
0.38
type 2 diabetes mellitus
0.32
alcohol drinking
0.29
smoking initiation
0.28
diabetes mellitus
0.27
metabolic dysfunction-associated steatotic liver disease
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cbp/p300-interacting transactivator 2

Transcriptional coactivator of the p300/CBP-mediated transcription complex. Acts as a bridge, linking TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex in order to stimulate TFAP2-mediated transcriptional activation. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Stimulates the peroxisome proliferator-activated receptors PPARA transcriptional activity. Enhances estrogen-dependent transactivation mediated by estrogen receptors. Also acts as a transcriptional corepressor; interferes with the binding of the transcription factors HIF1A or STAT2 and the p300/CBP transcriptional coactivator complex. Participates in sex determination and early gonad development by stimulating transcription activation of SRY. Plays a role in controlling left-right patterning during embryogenesis; potentiates transcriptional activation of NODAL-mediated gene transcription in the left lateral plate mesoderm (LPM). Plays an essential role in differentiation of the adrenal cortex from the adrenogonadal primordium (AGP); stimulates WT1-mediated transcription activation thereby up-regulating the nuclear hormone receptor NR5A1 promoter activity. Associates with chromatin to the PITX2 P1 promoter region