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Aliases for NIPAL4 Gene

Aliases for NIPAL4 Gene

  • NIPA Like Domain Containing 4 2 3 5
  • Ichthyin 2 3 4
  • Non-Imprinted In Prader-Willi/Angelman Syndrome Region Protein 4 3 4
  • NIPA-Like Protein 4 3 4
  • Magnesium Transporter NIPA4 3
  • NIPA-Like 4 2
  • ARCI6 3
  • ICHYN 3
  • NIPA4 4
  • ICHN 4

External Ids for NIPAL4 Gene

Previous GeneCards Identifiers for NIPAL4 Gene

  • GC05P156821
  • GC05P156887
  • GC05P151975

Summaries for NIPAL4 Gene

Entrez Gene Summary for NIPAL4 Gene

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

GeneCards Summary for NIPAL4 Gene

NIPAL4 (NIPA Like Domain Containing 4) is a Protein Coding gene. Diseases associated with NIPAL4 include Ichthyosis, Congenital, Autosomal Recessive 6 and Autosomal Recessive Congenital Ichthyosis. Among its related pathways are Miscellaneous transport and binding events and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include magnesium ion transmembrane transporter activity. An important paralog of this gene is NIPA2.

UniProtKB/Swiss-Prot for NIPAL4 Gene

  • Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Mn(2+), Sr(2+) and Co(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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NIPAL4 Gene

Genomics for NIPAL4 Gene

Regulatory Elements for NIPAL4 Gene

Enhancers for NIPAL4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F157462 1.6 FANTOM5 Ensembl ENCODE 51.7 +4.3 4278 2.7 PKNOX1 FOS ZNF263 JUNB TSHZ1 ZNF518A SMARCA4 PBX2 STAT3 NBN NIPAL4 FNDC9 LOC102724404 THG1L ADAM19 HAVCR2 ENSG00000253519
GH05F157510 1.2 Ensembl ENCODE 41.8 +52.5 52477 3.6 ELF3 ARNT SIN3A RAD21 RARA FOS KLF13 CEBPB PPARG NR2F2 NIPAL4 ADAM19 LOC102724404 ENSG00000248544 CYFIP2 ENSG00000253519
GH05F157459 0.8 ENCODE 36.3 +0.5 494 1.9 CTCF KLF1 SUZ12 KLF17 ZIC2 HIC1 ZFHX2 GLIS2 ZBTB48 ZNF366 NIPAL4 FNDC9 ENSG00000248544 LOC102724404 MED7 ITK ADAM19 ENSG00000253519
GH05F157591 1.5 FANTOM5 Ensembl ENCODE 18.8 +135.9 135936 8.1 TBP PKNOX1 TBL1XR1 YY1 EGR1 ELK1 SCRT2 ETV6 FOS CREM ADAM19 NIPAL4 ENSG00000253519 C5orf52 HAVCR2 THG1L ENSG00000254336 RNU6-390P
GH05F157602 1.5 FANTOM5 Ensembl ENCODE 17.3 +143.6 143632 3.1 HDGF JUN SIN3A BMI1 EBF1 RAD21 RELA EED ETV6 FOS ADAM19 NIPAL4 HAVCR2 THG1L ENSG00000254336 RNU6-390P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NIPAL4 on UCSC Golden Path with GeneCards custom track

Promoters for NIPAL4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001294903 181 801 CTCF KLF1 KLF17 ZIC2 HIC1 ZFHX2 GLIS2 ZBTB48 ZNF366 PATZ1

Genomic Location for NIPAL4 Gene

Chromosome:
5
Start:
157,460,019 bp from pter
End:
157,474,722 bp from pter
Size:
14,704 bases
Orientation:
Plus strand

Genomic View for NIPAL4 Gene

Genes around NIPAL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NIPAL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NIPAL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NIPAL4 Gene

Proteins for NIPAL4 Gene

  • Protein details for NIPAL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0D2K0-NIPA4_HUMAN
    Recommended name:
    Magnesium transporter NIPA4
    Protein Accession:
    Q0D2K0
    Secondary Accessions:
    • A8S6F1
    • A8S6F5
    • A8S6F8
    • B4DLF3
    • Q0D2J8
    • Q0D2J9

    Protein attributes for NIPAL4 Gene

    Size:
    466 amino acids
    Molecular mass:
    50058 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=ABW69630.1; Type=Miscellaneous discrepancy; Note=Protein truncation is due to an exon 5 splice site mutation which is found in a ARCII patient.; Evidence={ECO:0000305};

    Alternative splice isoforms for NIPAL4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NIPAL4 Gene

Post-translational modifications for NIPAL4 Gene

  • Glycosylation at Asn 69, Asn 74, and Asn 102
  • Modification sites at PhosphoSitePlus

Other Protein References for NIPAL4 Gene

No data available for DME Specific Peptides for NIPAL4 Gene

Domains & Families for NIPAL4 Gene

Protein Domains for NIPAL4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NIPAL4 Gene

Graphical View of Domain Structure for InterPro Entry

Q0D2K0

UniProtKB/Swiss-Prot:

NIPA4_HUMAN :
  • Belongs to the NIPA family.
Family:
  • Belongs to the NIPA family.
genes like me logo Genes that share domains with NIPAL4: view

No data available for Gene Families for NIPAL4 Gene

Function for NIPAL4 Gene

Molecular function for NIPAL4 Gene

UniProtKB/Swiss-Prot Function:
Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Mn(2+), Sr(2+) and Co(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.

Gene Ontology (GO) - Molecular Function for NIPAL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015095 magnesium ion transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with NIPAL4: view

Phenotypes for NIPAL4 Gene

genes like me logo Genes that share phenotypes with NIPAL4: view

Human Phenotype Ontology for NIPAL4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for NIPAL4 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NIPAL4 Gene

Localization for NIPAL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NIPAL4 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NIPAL4 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for NIPAL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0016020 membrane IEA,IBA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NIPAL4: view

Pathways & Interactions for NIPAL4 Gene

genes like me logo Genes that share pathways with NIPAL4: view

Pathways by source for NIPAL4 Gene

Interacting Proteins for NIPAL4 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000311687%0d%0a9606.ENSP00000300456%0d%0a
Selected Interacting proteins: ENSP00000311687 Q0D2K0-NIPA4_HUMAN for NIPAL4 Gene via STRING IID

Gene Ontology (GO) - Biological Process for NIPAL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0015693 magnesium ion transport IBA --
GO:1903830 magnesium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with NIPAL4: view

No data available for SIGNOR curated interactions for NIPAL4 Gene

Transcripts for NIPAL4 Gene

Unigene Clusters for NIPAL4 Gene

NIPA-like domain containing 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NIPAL4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
SP1: - -
SP2: -
SP3: -

Relevant External Links for NIPAL4 Gene

GeneLoc Exon Structure for
NIPAL4
ECgene alternative splicing isoforms for
NIPAL4

Expression for NIPAL4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NIPAL4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NIPAL4 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x12.7), Skin - Not Sun Exposed (Suprapubic) (x12.2), and Bladder (x4.0).

Protein differential expression in normal tissues from HIPED for NIPAL4 Gene

This gene is overexpressed in Lavage (60.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NIPAL4 Gene



NURSA nuclear receptor signaling pathways regulating expression of NIPAL4 Gene:

NIPAL4

SOURCE GeneReport for Unigene cluster for NIPAL4 Gene:

Hs.4285

mRNA Expression by UniProt/SwissProt for NIPAL4 Gene:

Q0D2K0-NIPA4_HUMAN
Tissue specificity: Highly expressed in brain, lung, stomach, keratinocytes and leukocytes, and in all other tissues tested except liver, thyroid and fetal brain.
genes like me logo Genes that share expression patterns with NIPAL4: view

Primer Products

No data available for Protein tissue co-expression partners for NIPAL4 Gene

Orthologs for NIPAL4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NIPAL4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NIPAL4 34 35
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia NIPAL4 34 35
  • 88.86 (n)
cow
(Bos Taurus)
Mammalia NIPAL4 34 35
  • 87.14 (n)
rat
(Rattus norvegicus)
Mammalia Nipal4 34
  • 83.99 (n)
mouse
(Mus musculus)
Mammalia Nipal4 34 16 35
  • 83.83 (n)
oppossum
(Monodelphis domestica)
Mammalia NIPAL4 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NIPAL4 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves NIPAL4 34 35
  • 69.04 (n)
lizard
(Anolis carolinensis)
Reptilia NIPAL4 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nipal4 34
  • 62.01 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:91960 34
  • 58.54 (n)
NIPAL4 35
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta spict 35
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nipa-1 35
  • 43 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER274W 34
  • 53.57 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E11309g 34
  • 51.58 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G71900 34
  • 52.02 (n)
rice
(Oryza sativa)
Liliopsida Os05g0424800 34
  • 54.21 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.20676 34
bread mold
(Neurospora crassa)
Ascomycetes NCU00490 34
  • 54.3 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToMany
Species where no ortholog for NIPAL4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NIPAL4 Gene

ENSEMBL:
Gene Tree for NIPAL4 (if available)
TreeFam:
Gene Tree for NIPAL4 (if available)

Paralogs for NIPAL4 Gene

Paralogs for NIPAL4 Gene

(4) SIMAP similar genes for NIPAL4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NIPAL4: view

Variants for NIPAL4 Gene

Sequence variations from dbSNP and Humsavar for NIPAL4 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs199422217 Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281], Pathogenic 157,468,728(+) GGCTG(A/C/G)TGGAG reference, missense
rs370356566 Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281] 157,471,733(+) TGGCC(A/G)GAAGC reference, missense
rs375688767 Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281] 157,472,448(+) TGATC(A/C/G)GGGCC reference, missense
rs775903553 Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281] 157,463,295(+) GAAAG(A/G/T)CCTCT reference, missense, utr-variant-5-prime
VAR_031738 Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]

Structural Variations from Database of Genomic Variants (DGV) for NIPAL4 Gene

Variant ID Type Subtype PubMed ID
nsv462497 CNV loss 19166990
nsv5089 CNV deletion 18451855
nsv600132 CNV loss 21841781
nsv600133 CNV loss 21841781
nsv830526 CNV loss 17160897

Variation tolerance for NIPAL4 Gene

Residual Variation Intolerance Score: 80.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.47; 64.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NIPAL4 Gene

Human Gene Mutation Database (HGMD)
NIPAL4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NIPAL4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NIPAL4 Gene

Disorders for NIPAL4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NIPAL4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ichthyosis, congenital, autosomal recessive 6
  • autosomal recessive congenital ichthyosis 6
autosomal recessive congenital ichthyosis
  • arci
congenital ichthyosiform erythroderma
  • alligator skin
ichthyosis, congenital, autosomal recessive 2
  • autosomal recessive congenital ichthyosis 2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NIPA4_HUMAN
  • Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269 PubMed:15317751, ECO:0000269 PubMed:17557927, ECO:0000269 PubMed:26456858}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NIPAL4

Genetic Association Database (GAD)
NIPAL4
Human Genome Epidemiology (HuGE) Navigator
NIPAL4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NIPAL4
genes like me logo Genes that share disorders with NIPAL4: view

No data available for Genatlas for NIPAL4 Gene

Publications for NIPAL4 Gene

  1. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. (PMID: 15317751) Lefevre C. … Fischer J. (Hum. Mol. Genet. 2004) 2 3 4 22 64
  2. Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. (PMID: 17557927) Dahlqvist J. … Dahl N. (J. Med. Genet. 2007) 3 4 22 64
  3. NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis. (PMID: 20016120) Wajid M. … Christiano A.M. (Dermatology (Basel) 2010) 3 22 64
  4. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64
  5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 46 64

Products for NIPAL4 Gene

Sources for NIPAL4 Gene

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