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NIPAL4 Gene

protein-coding   GIFtS: 50
GCID: GC05P156887

NIPA-Like Domain Containing 4

(Previous name: NIPA-like 4)
  See NIPAL4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NIPA-Like Domain Containing 41 2     NIPA-Like 41
Non-Imprinted In Prader-Willi/Angelman Syndrome Region Protein 42 3     ICHTHYIN2
NIPA-Like Protein 42 3     Magnesium Transporter NIPA42
ARCI62 5     ICHN3
ICHYN2 5     Ichthyin3
ichthyin1     NIPA43

External Ids:    HGNC: 280181   Entrez Gene: 3489382   Ensembl: ENSG000001725487   OMIM: 6093835   UniProtKB: Q0D2K03   

Export aliases for NIPAL4 gene to outside databases

Previous GC identifers: GC05P156821 GC05P151975


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 nipal4-related autosomal recessive congenital ichthyosis. GO annotations related to this gene include magnesium ion transmembrane transporter activity. An important paralog of this gene is NIPA1.

UniProtKB/Swiss-Prot: NIPA4_HUMAN, Q0D2K0
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_023133.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the NIPAL4 gene promoter:
         AhR   ER-alpha   AML1a   MAZR   AP-1   IRF-7A   LUN-1   E47   Arnt   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for NIPAL4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NIPAL4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q33.3   Ensembl cytogenetic band:  5q33.3   HGNC cytogenetic band: 5q33.3

NIPAL4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NIPAL4 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P156887:  view genomic region     (about GC identifiers)

Start:
156,887,027 bp from pter      End:
156,901,730 bp from pter
Size:
14,704 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NIPA4_HUMAN, Q0D2K0 (See protein sequence)
Recommended Name: Magnesium transporter NIPA4  
Size: 466 amino acids; 50058 Da
Sequence caution: 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;
Secondary accessions: A8S6F1 A8S6F5 A8S6F8 B4DLF3 Q0D2J8 Q0D2J9
Alternative splicing: 2 isoforms:  Q0D2K0-1   Q0D2K0-2   

Explore the universe of human proteins at neXtProt for NIPAL4: NX_Q0D2K0

Explore proteomics data for NIPAL4 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn69, Asn74, Asn102

  • See NIPAL4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001092757.1  NP_001165763.1  

    ENSEMBL proteins: 
     ENSP00000406456   ENSP00000311687   ENSP00000430810  

    NIPAL4 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online peptides for NIPAL4

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR008521 Mg_trans_NIPA

    Graphical View of Domain Structure for InterPro Entry Q0D2K0

    ProtoNet protein and cluster: Q0D2K0

    UniProtKB/Swiss-Prot: NIPA4_HUMAN, Q0D2K0
    Similarity: Belongs to the NIPA family


    Find genes that share domains with NIPAL4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NIPA4_HUMAN, Q0D2K0
    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): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015095magnesium ion transmembrane transporter activity IEA--
         
    Find genes that share ontologies with NIPAL4           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for NIPAL4:
     Cell cycle / mitosis defect  Decreased viability of wild-ty 

    Animal Models:
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    Selected qRT-PCR Assays for microRNAs that regulate NIPAL4 (see all 38):
    hsa-let-7d hsa-miR-513a-5p hsa-miR-128 hsa-miR-766 hsa-let-7g hsa-let-7a hsa-miR-181b hsa-miR-4324
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NIPA4_HUMAN, Q0D2K0: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytosol1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with NIPAL4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NIPAL4
    Interactions:

        Search GeneGlobe Interaction Network for NIPAL4

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015693magnesium ion transport ----

    Find genes that share ontologies with NIPAL4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NIPAL4 (NIPA4)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NIPAL4 gene (2 alternative transcripts): 
    NM_001099287.1  NM_001172292.1  

    Unigene Cluster for NIPAL4:

    NIPA-like domain containing 4
    Hs.4285  [show with all ESTs]
    Unigene Representative Sequence: NM_001099287
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000435489 ENST00000311946(uc003lwx.4 uc011ddq.2) ENST00000521390
    ENST00000519150 ENST00000519946(uc010jin.1)
    miRNA
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    Block miRNA regulation of human, mouse, rat NIPAL4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NIPAL4 (see all 38):
    hsa-let-7d hsa-miR-513a-5p hsa-miR-128 hsa-miR-766 hsa-let-7g hsa-let-7a hsa-miR-181b hsa-miR-4324
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat NIPAL4
      QuantiFast Probe-based Assays in human, mouse, rat NIPAL4

    Additional mRNA sequence: 

    AF131815.1 AK026158.1 AK296972.1 AK308830.1 AK309242.1 BC105708.1 BC105709.1 BC105710.1 

    2 DOTS entries:

    DT.412443  DT.120837293 

    Selected AceView cDNA sequences (see all 32):

    BG287705 AA053788 AK026158 AF131815 AA035736 BX116027 BG290248 BM805696 
    BG260369 BG289364 BE564562 CD559194 BG698778 AI377064 BG260294 AA456520 
    AA232126 AW138350 BG291891 AI453516 T10268 AI141245 T80356 R53655 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NIPAL4    About this scheme

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


    ECgene alternative splicing isoforms for NIPAL4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NIPAL4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTGACTGT
    NIPAL4 Expression
    About this image


    NIPAL4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Lung (Respiratory System)
             Basal Cells Respiratory Bronchioles
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Epidermis (Integumentary System)
    NIPAL4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NIPAL4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.4285

    UniProtKB/Swiss-Prot: NIPA4_HUMAN, Q0D2K0
    Tissue specificity: Highly expressed in brain, lung, stomach, keratinocytes and leukocytes, and in all other
    tissues tested except liver, thyroid and fetal brain

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NIPAL4 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nipal41 , 5 NIPA-like domain containing 41, 5 83.83(n)1
    84.9(a)1
      11 (27.59 cM)5
    2141121  NM_172524.31  NP_766112.11 
     461481555 
    chicken
    (Gallus gallus)
    Aves NIPAL41 NIPA-like domain containing 4 69.04(n)
    65.99(a)
      416245  XM_414566.3  XP_414566.3 
    lizard
    (Anolis carolinensis)
    Reptilia NIPAL46
    NIPA-like domain containing 4
    62(a)
    1 ↔ 1
    GL343205.1(2728246-2733784)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nipal41 NIPA-like domain containing 4 62.01(n)
    63.45(a)
      448461  NM_001004993.1  NP_001004993.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:919601 zgc:91960 58.54(n)
    57.11(a)
      436937  NM_001002664.1  NP_001002664.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta spict6
    spichthyin
    42(a)
    1 → many
    2L(12704725-12706683)
    worm
    (Caenorhabditis elegans)
    Secernentea nipa-16
    Protein NIPA-1, isoform b (nipa-1) mRNA, complete ...
    43(a)
    1 → many
    III(3112487-3127117) WBGene00021820
    A. gossypii yeast
    (Ashbya gossypii)
    Saccharomycetes AGOS_AER274W1 AGOS_AER274W 53.57(n)
    43.86(a)
      4621342  NM_210485.1  NP_985131.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G719001 AT1G71900 52.02(n)
    47.06(a)
      843521  NM_105848.4  NP_565027.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g04248001 Os05g0424800 54.21(n)
    46.37(a)
      4338847  NM_001062130.1  NP_001055595.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NIPAL4 gene
    NIPA12  NIPAL32  NIPAL12  NIPAL22  NIPA22  
    4 SIMAP similar genes for NIPAL4 using alignment to 2 protein entries:     NIPA4_HUMAN (see all proteins):
    NIPA2    NIPAL1    NIPA1    NIPAL2

    Find genes that share paralogs with NIPAL4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NIPAL4 (see all 360)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1994222171,2,,4
    CIchthyosis, congenital, autosomal recessive 6 (ARCI6)4 pathogenic1157120436(+) GGCTGC/ATGGAG 4 /D /A mis11Minor allele frequency- A:0.00EU 347
    VAR_0317384
    Ichthyosis, congenital, autosomal recessive 6 (ARCI6)4--see VAR_0317382 S F mis40--------
    VAR_0317404
    Ichthyosis, congenital, autosomal recessive 6 (ARCI6)4--see VAR_0317402 G R mis40--------
    VAR_0317364
    Ichthyosis, congenital, autosomal recessive 6 (ARCI6)4--see VAR_0317362 G V mis40--------
    VAR_0317394
    Ichthyosis, congenital, autosomal recessive 6 (ARCI6)4--see VAR_0317392 H N mis40--------
    VAR_0541204
    Ichthyosis, congenital, autosomal recessive 6 (ARCI6)4--see VAR_0541202 G R mis40--------
    rs1994222161,2
    Cpathogenic1157115013(+) TCTTGA/C/TGACTC 4 R * stg10--------
    rs720055741,2
    C--151981355(+) AAGGA-/AGAGAGA 2 -- int10--------
    rs351934091,2
    C--156888102(+) GTCTT-/GGAACT 2 -- int10--------
    rs1394307741,2
    C--157109772(+) TACACA/GTAGCA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for NIPAL4 (156887027 - 156901730 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NIPAL4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5089CNV Loss18451855
    nsv830526CNV Loss17160897
    nsv462497CNV Loss19166990

    Human Gene Mutation Database (HGMD): NIPAL4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NIPAL4
    DNA2.0 Custom Variant and Variant Library Synthesis for NIPAL4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609383   
    OMIM disorders: 612281  
    UniProtKB/Swiss-Prot: NIPA4_HUMAN, Q0D2K0
  • 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. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 6 diseases for NIPAL4:    
    About MalaCards
    ichthyosis, congenital, autosomal recessive 6    nipal4-related autosomal recessive congenital ichthyosis    autosomal recessive congenital ichthyosis    ichthyosis, congenital, autosomal recessive 2
    ichthyosis, congenital, autosomal recessive 1    angelman syndrome

    1 disease from the University of Copenhagen DISEASES database for NIPAL4:
    Congenital ichthyosiform erythroderma

    Find genes that share disorders with NIPAL4           About GenesLikeMe

    GeneTests: NIPAL4
    GeneReviews: NIPAL4
    Genetic Association Database (GAD): NIPAL4
    Human Genome Epidemiology (HuGE) Navigator: NIPAL4 (4 documents)

    Export disorders for NIPAL4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NIPAL4 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with NIPAL4)
        Utopia: connect your pdf to the dynamic
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    1. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. (PubMed id 15317751)1, 2, 3, 9 Lefevre C.... Fischer J. (Hum. Mol. Genet. 2004)
    2. Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. (PubMed id 17557927)1, 2, 9 Dahlqvist J.... Dahl N. (J. Med. Genet. 2007)
    3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    4. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    5. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (Genome Res. 1997)
    6. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (Anal. Biochem. 1996)
    7. NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis. (PubMed id 20016120)1, 9 Wajid M....Christiano A.M. (Dermatology (Basel) 2010)
    8. Expression of retinoid-regulated genes in lamellar ichthyosis vs. healthy control epidermis: changes after oral treatment with liarozole. (PubMed id 19197536)1, 9 Pavez LoriA" E....Vahlquist A. (Acta Derm. Venereol. 2009)
    9. Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis. (PubMed id 23290633)1 Li H....TAPrmAo H. (J. Dermatol. Sci. 2013)
    10. The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis. (PubMed id 22622417)1 Li H....TAPrmAo H. (J. Invest. Dermatol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 348938 HGNC: 28018 AceView: LOC348938 Ensembl:ENSG00000172548 euGenes: HUgn348938
    ECgene: NIPAL4 H-InvDB: NIPAL4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NIPAL4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ICHTHYIN[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NIPAL4 gene:
    Search GeneIP for patents involving NIPAL4

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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