NIPAL4 - NIPA like domain containing 4 Gene

Homo sapiens

Also known as ARCI6; ICHYN; SLC57A6; ICHTHYIN

Gene ID: 348938 | Gene type: protein coding

About NIPAL4

Cytogenetic location: 5q33.3 Genomic coordinates (GRCh38): 5:157,460,019-157,474,722 (from NCBI)

This gene has 5 transcripts (splice variants), 215 orthologues, 5 paralogues and is associated with 4 phenotypes. Biased expression in skin (RPKM 16.9), esophagus (RPKM 5.1) and 4 other tissues.

Summary

This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]

NIPAL4 Products(2)

mRNA	Protein	Name
NM_001099287.2	NP_001092757.2	magnesium transporter NIPA4 isoform 1
NM_001172292.2	NP_001165763.2	magnesium transporter NIPA4 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NIPAL4 Protein Structure

Mg_trans_NIPA

0
100
200
300
400
466 a.a.

Protein Preferred Names

Protein Names

magnesium transporter NIPA4

NIPA-like protein 4

NIPAL4 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NIPAL4	Q0D2K0	IL10RA	Homo sapiens	Q13651	Y2H Prey Pooling	32296183
Intra	NIPAL4	Q0D2K0	IL10RA	Homo sapiens	Q13651	Validated Y2H	32296183
Intra	NIPAL4	Q0D2K0	IL10RA	Homo sapiens	Q13651	Y2H Array	32296183
Intra	NIPAL4	Q0D2K0	GPR152	Homo sapiens	Q8TDT2	Validated Y2H	32296183
Intra	NIPAL4	Q0D2K0	GPR152	Homo sapiens	Q8TDT2	Y2H Array	32296183
Intra	NIPAL4	Q0D2K0	GPR152	Homo sapiens	Q8TDT2	Y2H Prey Pooling	32296183
Intra	NIPAL4	Q0D2K0	TM4SF18	Homo sapiens	Q96CE8	Y2H Array	32296183
Intra	NIPAL4	Q0D2K0	TM4SF18	Homo sapiens	Q96CE8	Y2H Prey Pooling	32296183
Intra	NIPAL4	Q0D2K0	TM4SF18	Homo sapiens	Q96CE8	Validated Y2H	32296183
Intra	NIPAL4	Q0D2K0	ACKR2	Homo sapiens	O00590	Y2H Prey Pooling	32296183
Intra	NIPAL4	Q0D2K0	ACKR2	Homo sapiens	O00590	Y2H Array	32296183
Intra	NIPAL4	Q0D2K0	GJB1	Homo sapiens	P08034	Y2H Prey Pooling	32296183
Intra	NIPAL4	Q0D2K0	GJB1	Homo sapiens	P08034	Y2H Array	32296183
Intra	NIPAL4	Q0D2K0	TRHR	Homo sapiens	P34981	Y2H Prey Pooling	32296183
Intra	NIPAL4	Q0D2K0	TRHR	Homo sapiens	P34981	Y2H Array	32296183
Intra	NIPAL4	Q0D2K0	CMTM2	Homo sapiens	Q8TAZ6	Validated Y2H	32296183
Intra	NIPAL4	Q0D2K0	CMTM2	Homo sapiens	Q8TAZ6	Y2H Prey Pooling	32296183
Intra	NIPAL4	Q0D2K0	CMTM2	Homo sapiens	Q8TAZ6	Y2H Array	32296183
Intra	NIPAL4	Q0D2K0	RNF185	Homo sapiens	Q96GF1	Y2H Array	32296183
Intra	NIPAL4	Q0D2K0	RNF185	Homo sapiens	Q96GF1	Validated Y2H	32296183
Intra	NIPAL4	Q0D2K0	RNF185	Homo sapiens	Q96GF1	Y2H Prey Pooling	32296183
Intra	NIPAL4	Q0D2K0	RNF19B	Homo sapiens	Q6ZMZ0	Y2H Prey Pooling	32296183
Intra	NIPAL4	Q0D2K0	RNF19B	Homo sapiens	Q6ZMZ0	Validated Y2H	32296183
Intra	NIPAL4	Q0D2K0	RNF19B	Homo sapiens	Q6ZMZ0	Y2H Array	32296183
Intra	NIPAL4	Q0D2K0	LHFPL5	Homo sapiens	Q8TAF8	Y2H Array	32296183
Intra	NIPAL4	Q0D2K0	LHFPL5	Homo sapiens	Q8TAF8	Validated Y2H	32296183
Intra	NIPAL4	Q0D2K0	LHFPL5	Homo sapiens	Q8TAF8	Y2H Prey Pooling	32296183
Intra	NIPAL4	Q0D2K0	FFAR2	Homo sapiens	O15552	Y2H Array	32296183
Intra	NIPAL4	Q0D2K0	FFAR2	Homo sapiens	O15552	Y2H Prey Pooling	32296183
Intra	NIPAL4	Q0D2K0	HHLA2	Homo sapiens	Q9UM44	Y2H Array	32296183
Intra	NIPAL4	Q0D2K0	HHLA2	Homo sapiens	Q9UM44	Y2H Prey Pooling	32296183
Intra	NIPAL4	Q0D2K0	HHLA2	Homo sapiens	Q9UM44	Validated Y2H	32296183
Intra	NIPAL4	Q0D2K0	COMT	Homo sapiens	P21964	Y2H Prey Pooling	32296183
Intra	NIPAL4	Q0D2K0	COMT	Homo sapiens	P21964	Y2H Array	32296183
Intra	NIPAL4	Q0D2K0	CLDN7	Homo sapiens	O95471	Y2H Prey Pooling	32296183
Intra	NIPAL4	Q0D2K0	CLDN7	Homo sapiens	O95471	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Ichthyosis, Congenital, Autosomal Recessive 6

Autosomal Recessive Congenital Ichthyosis 6	ARCI6
Ichthyosis, Congenital, Autosomal Recessive, Nipal4-Related	Ichthyosis, Congenital, Autosomal Recessive, Ichthyin-Related
Ichthyosis Congenital Autosomal Recessive	Ichthyosis, Congenital, Autosomal Recessive, Type 6

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis	Erythrokeratodermia Variabilis Et Progressiva
Greither Disease	Ekv
Ekvp	PSEK
Erythrokeratodermia Variabilis With Erythema Gyratum Repens	Keratosis Palmoplantaris Transgrediens Et Progrediens
Transgrediens Et Progrediens Palmoplantar Keratoderma	EKVP1
Erythrokeratodermia, Progressive Symmetric	Erythrokeratodermia Figurata, Congenital Familial, In Plaques
Keratoderma Palmoplantaris Transgrediens	Keratosis Extremitatum Hereditaria Progrediens
Erythrokeratodermia Variabilis, Mendes Da Costa Type	Progressive Symmetric Erythrokeratodermia
Erythrokeratodermia Figurata Variabilis	Greither'S Disease
Ekv-P	Erythrokeratodermia Variabilis Of Mendes Da Costa
Progressive Symmetrical Erythrokeratoderma Of Gottron	Progressive Diffuse Ppk
Progressive Diffuse Palmoplantar Keratoderma	Transgrediens Et Progrediens Ppk
Darier-Gottron Disease	Erythrokeratodermia Progressiva Symmetrica
Progressive Symmetric Erythrokeratodermia, Gottron Type	Congenital Familial Erythrokeratodermia Figurata In Plaques
Erythrokeratodermia Progressive Symmetric	Erythrokeratodermia Variabilis Mendes Da Costa Type

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Ichthyosis, Congenital, Autosomal Recessive 7

ARCI7

Autosomal Recessive Congenital Ichthyosis 7

Ichthyosis, Congenital, Autosomal Recessive 1

Collodion Fetus	Autosomal Recessive Congenital Ichthyosis 1
ARCI1	Ichthyosis Congenita
Lamellar Exfoliation Of Newborn	Desquamation Of Newborn
Ichthyosis Congenita Ii	Shcb
Icr2	Bathing Suit Ichthyosis
Li1	Self-Healing Collodion Baby
Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution	Collodion Baby, Self-Healing
Ichthyosis, Lamellar, 1, Formerly	Li1, Formerly
Ichthyosis Lamellar 1	Lamellar Ichthyosis, Type 1
Bsi	Autosomal Recessive Congenital Ichthyosis 1 With Bathing Suit Distribution
Autosomal Recessive Congenital Ichthyosis Tgm1-Related	Lamellar Ichthyosis 1
Non-Erythrodermic Ichthyosis	Ichthyosis, Congenital, Autosomal Recessive, Type 1
Congenital Ichthyosis

Ichthyosis, Congenital, Autosomal Recessive 4b

Harlequin Ichthyosis	Autosomal Recessive Congenital Ichthyosis 4b
Hi	Harlequin Fetus
ARCI4B	Ichthyosis Congenita, Harlequin Fetus Type
Harlequin Type Ichthyosis	'Harlequin Fetus'
Harlequin Type Ichthyosis Congenita	Harlequin Type Ichthyosis Fetalis
Harlequin Baby Syndrome	Ichthyosis Congenita, Harlequin Type
Ichthyosis Fetalis, Harlequin Type	Ichthyosis Congenita Harlequin Fetus Type
Ichthyosis, Harlequin	Ichthyosis, Congenital, Autosomal Recessive, Type 4b

Ainhum

Dactylolysis Spontanea

Spontaneous Dactylolysis

Eyelid Disease

Eyelid Diseases

Eyelid Disorders

Acrokeratosis Verruciformis

Acrokeratosis Verruciformis Of Hopf	Hopf Disease
AKV	Akv Of Hopf

Ichthyosis, Congenital, Autosomal Recessive 4a

Ichthyosis Congenita Iib	Icr2b
Autosomal Recessive Congenital Ichthyosis 4a	ARCI4A
Lamellar Ichthyosis 2	Li2
Ichthyosis, Lamellar, 2, Formerly	Li2, Formerly
Ichthyosis Lamellar 2	Lamellar Ichthyosis, Type 2
Ichthyosis, Lamellar 2	Ichthyosis, Congenital, Autosomal Recessive, Type 4a

Epidermolytic Hyperkeratosis

Bullous Congenital Ichthyosiform Erythroderma	Bullous Ichthyosiform Erythroderma
EHK	Bullous Erythroderma Ichthyosiformis Congenita Of Brocq
Bcie	Bie
Epidermolytic Ichthyosis	Ichthyosis Bullosa Of Siemens
Superficial Epidermolytic Ichthyosis	Hyperkeratosis, Epidermolytic
Congenital Bullous Ichthyosiform Erythroderma	Bullous Type Ichthyosis
Epidermolytic Palmoplantar Hyperkeratosis	Bullous Ichthyosiform Erythroderma Congenita
Bullous Erythroderma Ichthyosiforme	Sei
Epidermolytic Hyperkeratosis Late-Onset	Epidermolytic Hyperkeratosis, Late-Onset

Ectropion

Ectropion Of Eyelid	Everted Margin
Eversion Of The Eyelid	Eyelashes Turned Out
Eyelid Everted	Eyelid Turned Out
Unspecified Ectropion Of Unspecified Eye

Verruciform Xanthoma Of Skin

Verruciform Xanthoma

Cutaneous Verruciform Xanthoma

Ichthyosis, X-Linked

X-Linked Ichthyosis	Steroid Sulfatase Deficiency
Placental Steroid Sulfatase Deficiency	Steroid Sulfatase Deficiency Disease
XLI	Sts Deficiency
Ssdd	X-Linked Recessive Ichthyosis
X-Linked Ichthyosis With Steryl-Sulphatase Deficiency	X-Linked Placental Steryl-Sulphatase Deficiency
Ssd	X Linked Ichthyosis
Recessive X-Linked Ichthyosis	Rxli
Syndromic Recessive X-Linked Ichthyosis	Recessive X-Linked Ichthyosis With Extracutaneous Manifestations
Syndromic Rxli	X-Linked Ichthyosis Syndrome
IXL	Ichthyosis X-Linked
Sex-Linked Ichthyosis	X-Linked Ichthyosis With Steryl-Sulfatase Deficiency

Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects

Child Syndrome	Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs
Child Nevus	Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects
Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects	Ichthyosis, Child Syndrome
Child Syndrome Ichthyosis	CHILD

X-Linked Chondrodysplasia Punctata 2

Happle Syndrome	Cdpx2
Conradi-Hünermann Syndrome	Chondrodysplasia Punctata 2, X-Linked
X-Linked Dominant Chondrodysplasia Punctata	Conradi-Hunermann Syndrome
Conradi-Hünermann-Happle Syndrome	Cdpxd
Cpxd	Chondrodystrophia Calcificans Congenita
Conradi-Hunermann-Happle Syndrome	X-Linked Chondrodysplasia Punctata Type 2
Chondrodysplasia Punctata, X-Linked Dominant Type

Ichthyosis, Congenital, Autosomal Recessive 2

Autosomal Recessive Congenital Ichthyosis 2	ARCI2
Ncie1	Ichthyosiform Erythroderma, Congenital
Collodion Baby, Self-Healing	Ichthyosiform Erythroderma, Nonbullous Congenital, 1, Formerly
Ncie1, Formerly	Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form, Formerly
Brocq Congenital Ichthyosiform Erythroderma Nonbullous Form	Nonbullous Congenital Ichthyosiform Erythroderma 1
Cie	Ichthyosiform Erythroderma Brocq Congenital Non-Bullous Form
Iecn1	Non-Bullous Congenital Ichthyosiform Erythroderma Type 1
Self-Healing Collodion Baby	Ichthyosis, Congenital, Autosomal Recessive, Type 2
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Ichthyosis Vulgaris

Ichthyosis Simplex	Dominant Congenital Ichthyosiform Erythroderma
Common Ichthyosis	Fish Scale Disease
VI	Ichthyoses
Congenital Ichthyosis

Angelman Syndrome

AS	Happy Puppet Syndrome
Happy Puppet Syndrome, Formerly	Puppetlike Syndrome

Cicatricial Ectropion

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09304	NIPAL4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NIPAL4	RGD	RGD:1309452
Felis catus	NIPAL4	VGNC	VGNC:102267
Bos taurus	NIPAL4	VGNC	VGNC:32084
Macaca mulatta	NIPAL4	VGNC	VGNC:75267
Canis familiaris	NIPAL4	VGNC	VGNC:43818
Mus musculus	NIPAL4	MGD	MGI:2444671

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