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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 NIPAL1.

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.

Additional gene information for NIPAL4 Gene

No data available for CIViC summary , 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
GH05H157462 1.8 FANTOM5 Ensembl ENCODE dbSUPER 51.6 +4.3 4278 2 PKNOX1 FOS ATF7 JUNB TSHZ1 ZNF518A SMARCA4 STAT3 NBN KDM1A NIPAL4 FNDC9 LOC102724404 THG1L ADAM19 HAVCR2 ENSG00000253519
GH05H157510 1.4 Ensembl ENCODE dbSUPER 41.8 +52.5 52477 3 ELF3 FOXA2 ARNT RAD21 RARA FOS CEBPB PPARG NR2F2 PRDM6 NIPAL4 ADAM19 LOC102724404 ENSG00000248544 CYFIP2 ENSG00000253519
GH05H157459 1.1 ENCODE dbSUPER 36.3 +0.5 494 1 CTCF KLF1 ZNF777 SUZ12 KLF17 SIN3A ZIC2 HIC1 ZFHX2 GLIS2 NIPAL4 FNDC9 ENSG00000248544 LOC102724404 MED7 ITK ADAM19 ENSG00000253519
GH05H157602 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.3 +143.6 143589 3 HDGF BMI1 BATF FOS ATF7 ETV6 RUNX3 CREM IKZF2 CBFB ADAM19 NIPAL4 HAVCR2 THG1L ENSG00000254336 RNU6-390P
GH05H157370 1 Ensembl ENCODE dbSUPER 26.5 -88.1 -88115 2 ZNF316 MAFG EMSY MAFK NIPAL4 ADAM19 LOC102724404 ENSG00000248544 FNDC9 ITK
- 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
ENSR00000189553 281 201 CTCF ZNF777 ZIC2 HIC1 ZFHX2 GLIS2 ZBTB48 PATZ1 PRDM10 ZBTB20

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 posLast=6969, posLast=7474, and posLast=102102
  • 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

Gene Families for NIPAL4 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

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

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.

Phenotypes From GWAS Catalog for NIPAL4 Gene

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

CRISPR Products

miRNA for NIPAL4 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NIPAL4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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:0016020 membrane IBA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NIPAL4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NIPAL4 Gene

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://version10.5.string-db.org/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: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

Drugs & Compounds for NIPAL4 Gene

No Compound Related Data Available

Transcripts for NIPAL4 Gene

Unigene Clusters for NIPAL4 Gene

NIPA-like domain containing 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NIPAL4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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.

Evidence on tissue expression from TISSUES for NIPAL4 Gene

  • Skin(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NIPAL4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • outer ear
Pelvis:
  • penis
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
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 33 34
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia NIPAL4 33 34
  • 88.86 (n)
cow
(Bos Taurus)
Mammalia NIPAL4 33 34
  • 87.14 (n)
rat
(Rattus norvegicus)
Mammalia Nipal4 33
  • 83.99 (n)
mouse
(Mus musculus)
Mammalia Nipal4 33 16 34
  • 83.83 (n)
oppossum
(Monodelphis domestica)
Mammalia NIPAL4 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NIPAL4 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves NIPAL4 33 34
  • 69.04 (n)
lizard
(Anolis carolinensis)
Reptilia NIPAL4 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nipal4 33
  • 62.01 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:91960 33
  • 58.54 (n)
NIPAL4 34
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta spict 34
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nipa-1 34
  • 43 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER274W 33
  • 53.57 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E11309g 33
  • 51.58 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G71900 33
  • 52.02 (n)
rice
(Oryza sativa)
Liliopsida Os05g0424800 33
  • 54.21 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.20676 33
bread mold
(Neurospora crassa)
Ascomycetes NCU00490 33
  • 54.3 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Pathogenic, Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281] 157,468,728(+) GGCTG(A/C/G)TGGAG reference, missense
rs370356566 Pathogenic, 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

(7) MalaCards diseases for NIPAL4 Gene - From: HGMD, 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
ichthyosis
  • ichthyoses
- 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) Lefèvre C … Fischer J (Human molecular genetics 2004) 2 3 4 22 60
  2. Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. (PMID: 17557927) Dahlqvist J … Dahl N (Journal of medical genetics 2007) 3 4 22 60
  3. Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. (PMID: 26456858) Maier D … Jonca N (Clinical and experimental dermatology 2016) 3 4 60
  4. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 45 60
  5. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 45 60

Products for NIPAL4 Gene

Sources for NIPAL4 Gene

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