DPF2

Chr 11q13.1

double PHD fingers 2

Aliases:: ubi-d4, BAF45d, SMARCG2
MANE:: ENST00000528416.6

OMIM: 601671 ↗NCBI: 5977 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DPF2 · Q92785

v62025-08-01

Predicted Aligned Error matrix for DPF2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.4/ 100

Low

391 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)23%
Low(50–70)18%
Very low(< 50)28%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Coffin-Siris syndrome
0.77
neurodegenerative disease
0.55
hereditary disease
0.47
Intellectual disability
0.37
lysosomal storage disease
0.37
Coffin-Siris syndrome 1
0.34
congenital bilateral absence of vas deferens
0.04
hepatocellular carcinoma
0.03
cancer
0.03
colon adenocarcinoma
0.03

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

Protein function (UniProt)

Zinc finger protein ubi-d4

Plays an active role in transcriptional regulation by binding modified histones H3 and H4 (PubMed:27775714, PubMed:28533407). Is a negative regulator of myeloid differentiation of hematopoietic progenitor cells (PubMed:28533407). Might also have a role in the development and maturation of lymphoid cells (By similarity). Involved in the regulation of non-canonical NF-kappa-B pathway (PubMed:20460684)