NIPAL4

Chr 5q33.3

NIPA like domain containing 4

Aliases:: ICHYN, SLC57A6, NIPA4
MANE:: ENST00000311946.8

OMIM: 609383 ↗NCBI: 348938 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

NIPAL4 · Q0D2K0

v62025-08-01

Predicted Aligned Error matrix for NIPAL4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.3/ 100

Confident

404 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)23%
Low(50–70)14%
Very low(< 50)14%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Autosomal recessive congenital ichthyosis
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Familial cicatricial alopecia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

lamellar ichthyosis
0.74
congenital non-bullous ichthyosiform erythroderma
0.74
autosomal recessive congenital ichthyosis
0.51
inherited ichthyosis
0.38
congenital reticular ichthyosiform erythroderma
0.38
ichthyosis
0.37
asthma
0.36
erythrokeratodermia variabilis
0.28
Chronic Obstructive Asthma
0.20
hereditary disease
0.19

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

Protein function (UniProt)

Magnesium transporter NIPA4

Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Sr(2+) and Fe(2+) but to a much less extent than Mg(2+) (By similarity). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway (PubMed:15317751)