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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NIPAL4
NIPA like domain containing 4
Chromosome 5 Β· 5q33.3
NCBI Gene: 348938Ensembl: ENSG00000172548.15HGNC: HGNC:28018UniProt: Q0D2K0
34PubMed Papers
21Diseases
0Drugs
37Pathogenic Variants
FUNCTIONAL ROLE
ReceptorTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmembranemagnesium ion transportmagnesium ion transmembrane transportlamellar ichthyosiscongenital non-bullous ichthyosiform erythrodermaautosomal recessive congenital ichthyosiscongenital reticular ichthyosiform erythroderma
✦AI Summary

NIPAL4 (NIPA-like domain containing 4) functions primarily as a magnesium (Mg2+) transporter with secondary capacity for other divalent cations 1. The gene is highly expressed in the granular cell layer of human epidermis 2, where it plays a critical role in skin barrier formation and keratinocyte differentiation. Mechanistically, NIPAL4 maintains intracellular Mg2+ homeostasis essential for proper chr5 remodeling during keratinocyte differentiation. Nipal4-knockout mice exhibit neonatal lethality due to severely compromised skin barrier function, characterized by decreased acylceramide lipids, hyperkeratosis, and impaired induction of differentiation-dependent genes (Krt1, Lor, Flg, Elovl1, Dgat2) 1. The low Mg2+ concentration in NIPAL4-deficient keratinocytes disrupts chr5 remodeling necessary for proper barrier lipid synthesis. NIPAL4 mutations cause autosomal recessive congenital ichthyosis (ARCI), a nonsyndromic keratinization disorder 34. NIPAL4-mutated ARCI patients (9.5% of characterized cases) present distinctive phenotypic features including psoriasis-like lesions, trunk reticulate scaling, and striated keratoderma, with relatively lower disease severity compared to TGM1 or ABCA12 mutations 5. Beyond dermatology, NIPAL4 has emerged as a potential prognostic marker in clear cell renal cell carcinoma, where high expression correlates with poor prognosis and associates with immune checkpoint molecules 6.

Sources cited
1
NIPAL4 functions as Mg2+ transporter essential for skin barrier formation, keratinocyte differentiation, and acylceramide lipid synthesis; Nipal4-KO mice show neonatal lethality and impaired chromatin remodeling
PMID: 29174370
2
NIPAL4 mRNA is highly expressed in granular cell layer of epidermis; mutations cause autosomal recessive congenital ichthyosis with recurrent missense mutations identified
PMID: 20016120
3
NIPAL4 is one of ten genes identified as causative for autosomal recessive congenital ichthyoses
PMID: 33435499
4
NIPAL4 mutations associated with ARCI, a nonsyndromic group of keratinization disorders with genetic heterogeneity
PMID: 23562412
5
NIPAL4-mutated ARCI patients (9.5% of cohort) present with psoriasis-like lesions, reticulate scaling, and striated keratoderma with lower disease severity than TGM1/ABCA12 mutations
PMID: 38588653
6
NIPAL4 is a prognostic marker in clear cell renal cell carcinoma associated with poor prognosis, tumor proliferation, and immune cell infiltration
PMID: 40140659
Disease Associationsβ“˜21
lamellar ichthyosisOpen Targets
0.74Strong
congenital non-bullous ichthyosiform erythrodermaOpen Targets
0.74Strong
autosomal recessive congenital ichthyosisOpen Targets
0.50Moderate
congenital reticular ichthyosiform erythrodermaOpen Targets
0.41Moderate
asthmaOpen Targets
0.38Weak
ichthyosisOpen Targets
0.37Weak
inherited ichthyosisOpen Targets
0.37Weak
erythrokeratodermia variabilisOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
respiratory system diseaseOpen Targets
0.18Weak
Chronic Obstructive AsthmaOpen Targets
0.12Weak
chronic obstructive pulmonary diseaseOpen Targets
0.05Suggestive
self-injurious ideationOpen Targets
0.05Suggestive
ichthyosis hystrix of Curth-MacklinOpen Targets
0.05Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.05Suggestive
Keratoderma hereditarium mutilans with ichthyosisOpen Targets
0.05Suggestive
focal palmoplantar and gingival keratodermaOpen Targets
0.04Suggestive
clear cell renal carcinomaOpen Targets
0.04Suggestive
autosomal dominant epidermolytic ichthyosisOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
Ichthyosis, congenital, autosomal recessive 6UniProt
Pathogenic Variants37
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)Pathogenic
Autosomal recessive congenital ichthyosis 6|not provided|Autosomal recessive congenital ichthyosis|Lamellar ichthyosis|Ichthyosis and erythrokeratoderma
β˜…β˜…β˜†β˜†2026β†’ Residue 114
NM_001099287.2(NIPAL4):c.247C>T (p.Arg83Ter)Pathogenic
Autosomal recessive congenital ichthyosis 6|not provided|Lamellar ichthyosis
β˜…β˜…β˜†β˜†2025β†’ Residue 83
NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg)Pathogenic
not provided|Autosomal recessive congenital ichthyosis 6|Autosomal recessive congenital ichthyosis|Lamellar ichthyosis
β˜…β˜…β˜†β˜†2023β†’ Residue 168
NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg)Pathogenic
Autosomal recessive congenital ichthyosis 6|not provided|Lamellar ichthyosis
β˜…β˜…β˜†β˜†2023β†’ Residue 235
NM_001099287.2(NIPAL4):c.421del (p.Leu140_Ile141insTer)Pathogenic
not provided|Autosomal recessive congenital ichthyosis 6
β˜…β˜…β˜†β˜†2022β†’ Residue 140
NM_001099287.2(NIPAL4):c.-102_-99delPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001099287.2(NIPAL4):c.703G>C (p.Gly235Arg)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 235
NM_001099287.2(NIPAL4):c.1105dup (p.Glu369fs)Likely pathogenic
Autosomal recessive congenital ichthyosis 6
β˜…β˜†β˜†β˜†2024β†’ Residue 369
NM_001099287.2(NIPAL4):c.-17C>ALikely pathogenic
Autosomal recessive congenital ichthyosis 6
β˜…β˜†β˜†β˜†2024
NM_001099287.2(NIPAL4):c.834G>T (p.Gln278His)Likely pathogenic
Autosomal recessive congenital ichthyosis 6
β˜…β˜†β˜†β˜†2024β†’ Residue 278
NM_001099287.2(NIPAL4):c.586G>A (p.Gly196Arg)Pathogenic
Autosomal recessive congenital ichthyosis 6
β˜…β˜†β˜†β˜†2024β†’ Residue 196
NM_001099287.2(NIPAL4):c.318G>A (p.Trp106Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 106
NM_001099287.2(NIPAL4):c.139C>T (p.Gln47Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 47
NM_001099287.2(NIPAL4):c.587-2A>GLikely pathogenic
Lamellar ichthyosis
β˜…β˜†β˜†β˜†2022
NM_001099287.2(NIPAL4):c.4G>T (p.Glu2Ter)Likely pathogenic
Lamellar ichthyosis
β˜…β˜†β˜†β˜†2022β†’ Residue 2
NM_001099287.2(NIPAL4):c.586+1G>TLikely pathogenic
Autosomal recessive congenital ichthyosis
β˜…β˜†β˜†β˜†2020
NM_001099287.2(NIPAL4):c.520_526del (p.Ile174fs)Pathogenic
Autosomal recessive congenital ichthyosis 6
β˜…β˜†β˜†β˜†2018β†’ Residue 174
NM_001099287.2(NIPAL4):c.897C>A (p.Tyr299Ter)Pathogenic
Autosomal recessive congenital ichthyosis 6
β˜…β˜†β˜†β˜†2018β†’ Residue 299
NM_001099287.2(NIPAL4):c.946G>T (p.Glu316Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 316
NM_001099287.2(NIPAL4):c.649C>G (p.Pro217Ala)Likely pathogenic
Erythrokeratodermia variabilis et progressiva 1
β˜†β˜†β˜†β˜†2020β†’ Residue 217
View on ClinVar β†—
Related Genes
NIPAL3Shared pathway100%NIPAL2Shared pathway100%NIPA2Shared pathway100%NIPA1Shared pathway100%NIPAL1Shared pathway100%TGM1Protein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
45%
Lung
2%
Liver
1%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
NIPAL4NIPAL3NIPAL2NIPA2NIPA1NIPAL1TGM1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q0D2K0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.04LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.48–1.04]
RankingsWhere NIPAL4 stands among ~20K protein-coding genes
  • #11,195of 20,598
    Most Researched34
  • #1,629of 5,498
    Most Pathogenic Variants37
  • #10,317of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedNIPAL4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Meta-Analysis of Mutations in
PMID: 33435499
Genes (Basel) Β· 2021
1.00
2
Decreased Skin Barrier Lipid Acylceramide and Differentiation-Dependent Gene Expression in Ichthyosis Gene Nipal4-Knockout Mice.
PMID: 29174370
J Invest Dermatol Β· 2018
0.90
3
NIPAL4 is an important marker for clear cell renal cell carcinoma prognosis and immunotherapy.
PMID: 40140659
Sci Rep Β· 2025
0.80
4
NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis.
PMID: 20016120
Dermatology Β· 2010
0.70
5
Autosomal recessive congenital ichthyosis.
PMID: 23562412
Actas Dermosifiliogr Β· 2013
0.60