NIPAL4 (NIPA like domain containing 4)

NIPAL4 (NIPA like domain containing 4)

2014-11-01 Affiliation

Identity

HGNC

LOCATION

5q33.3

LOCUSID

ALIAS

ARCI6,ICHTHYIN,ICHYN,SLC57A6

FUSION GENES

Show Gene Fusions

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)

0

10

20

30

40

50

60

70

80

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

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)

Not detected

Low

Medium

High

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/css/gene-explorer/js/lib/zoomerang.js