Identity
HGNC
LOCATION
5q33.3
LOCUSID
ALIAS
ARCI6,ICHTHYIN,ICHYN,SLC57A6
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 348938
MIM: 609383
HGNC: 28018
Ensembl: ENSG00000172548
Variants:
dbSNP: 348938
ClinVar: 348938
TCGA: ENSG00000172548
COSMIC: NIPAL4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000172548 | ENST00000311946 | Q0D2K0 |
| ENSG00000172548 | ENST00000435489 | Q0D2K0 |
| ENSG00000172548 | ENST00000519150 | H0YC31 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Miscellaneous transport and binding events | REACTOME | R-HSA-5223345 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37458571 | 2023 | Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions. | 0 |
| 37458571 | 2023 | Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions. | 0 |
| 34669720 | 2021 | Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis. | 3 |
| 34669720 | 2021 | Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis. | 3 |
| 31876100 | 2020 | Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity. | 3 |
| 31883158 | 2020 | Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families. | 1 |
| 31876100 | 2020 | Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity. | 3 |
| 31883158 | 2020 | Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families. | 1 |
| 31347739 | 2019 | Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4. | 6 |
| 31347739 | 2019 | Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4. | 6 |
| 29548991 | 2018 | Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines. | 11 |
| 29548991 | 2018 | Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines. | 11 |
| 27868142 | 2017 | A Japanese Case of Ichthyosiform Erythroderma with a Novel Mutation in NIPAL4/Ichthyin. | 4 |
| 27868142 | 2017 | A Japanese Case of Ichthyosiform Erythroderma with a Novel Mutation in NIPAL4/Ichthyin. | 4 |
| 26456858 | 2016 | Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. | 5 |
Citation
Dessen P
NIPAL4 (NIPA like domain containing 4)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70841/tumors-explorer/meetings/
