MAFA

Chr 8q24.3

MAF bZIP transcription factor A

Aliases:: RIPE3b1, hMafA
MANE:: ENST00000333480.3

OMIM: 610303 ↗NCBI: 389692 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MAFA · Q8NHW3

v62025-08-01

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

Mean pLDDT

61.5/ 100

Low

353 residues

Confidence breakdown

Very high(≥ 90)26%
Confident(70–90)5%
Low(50–70)25%
Very low(< 50)45%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Monogenic diabetes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital hyperinsulinism

Disease associations (Open Targets)

islet cell adenomatosis
0.59
connective tissue disorder
0.22
juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
0.12
osteopetrosis, autosomal dominant 3
0.12
type 2 diabetes mellitus
0.11
hyperinsulinism due to INSR deficiency
0.08
Miyoshi myopathy
0.08
MODY
0.07
hyperinsulinism due to glucokinase deficiency
0.07
hyperproinsulinemia
0.07

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

Protein function (UniProt)

Killer cell lectin-like receptor subfamily G member 1

Plays an inhibitory role on natural killer (NK) cells and T-cell functions upon binding to their non-MHC ligands. May mediate missing self recognition by binding to a highly conserved site on classical cadherins, enabling it to monitor expression of E-cadherin/CDH1, N-cadherin/CDH2 and R-cadherin/CDH4 on target cells