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    Nwd2 NACHT and WD repeat domain containing 2 [ Mus musculus (house mouse) ]

    Gene ID: 319807, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Nwd2provided by MGI
    Official Full Name
    NACHT and WD repeat domain containing 2provided by MGI
    Primary source
    MGI:MGI:1920464
    See related
    Ensembl:ENSMUSG00000090061 AllianceGenome:MGI:1920464
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Hn1-ps2; mKIAA1239; 3110047P20Rik; B830017A01Rik
    Summary
    Is active in synapse. Is expressed in central nervous system; dorsal root ganglion; tongue; and trigeminal nerve. Orthologous to human NWD2 (NACHT and WD repeat domain containing 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in cortex adult (RPKM 2.5), frontal lobe adult (RPKM 2.4) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Nwd2 in Genome Data Viewer
    Location:
    5 C3.1; 5 32.8 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (63806446..63967889)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (63649103..63810546)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_13173 Neighboring gene STARR-positive B cell enhancer ABC_E11287 Neighboring gene STARR-seq mESC enhancer starr_13174 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:63249548-63249756 Neighboring gene death domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_13175 Neighboring gene STARR-seq mESC enhancer starr_13176 Neighboring gene STARR-seq mESC enhancer starr_13177 Neighboring gene predicted gene, 30837 Neighboring gene STARR-seq mESC enhancer starr_13178 Neighboring gene NACHT and WD repeat domain containing 2, opposite strand Neighboring gene STARR-seq mESC enhancer starr_13179 Neighboring gene hematological and neurological expressed 1 protein pseudogene Neighboring gene RIKEN cDNA 0610040J01 gene Neighboring gene STARR-positive B cell enhancer ABC_E8053 Neighboring gene STARR-seq mESC enhancer starr_13182 Neighboring gene STARR-seq mESC enhancer starr_13187 Neighboring gene STARR-positive B cell enhancer ABC_E8054 Neighboring gene RELT-like 1 Neighboring gene predicted gene, 25608

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Identification and expression profile of novel STAND gene Nwd2 in the mouse central nervous system. Yamada S, et al. Gene Expr Patterns, 2022 Dec. PMID 36341976
    2. Action potential-coupled Rho GTPase signaling drives presynaptic plasticity. O'Neil SD, et al. Elife, 2021 Jul 16. PMID 34269176, Free PMC Article
    3. Prediction of the coding sequences of mouse homologues of KIAA gene: I. The complete nucleotide sequences of 100 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2002 Oct 31. PMID 12465718
    4. Brn3a and Nurr1 mediate a gene regulatory pathway for habenula development. Quina LA, et al. J Neurosci, 2009 Nov 11. PMID 19906978, Free PMC Article
    5. Ex vivo Quantitative Proteomic Analysis of Serotonin Transporter Interactome: Network Impact of the SERT Ala56 Coding Variant. Quinlan MA, et al. Front Mol Neurosci, 2020. PMID 32581705, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1239

    Gene Ontology Provided by MGI

    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in synapse EXP
    Inferred from Experiment
    more info
    		 PubMed 
    is_active_in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    NACHT and WD repeat domain-containing protein 2
    Names
    hematological and neurological expressed 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_177006.3 → NP_795980.2  NACHT and WD repeat domain-containing protein 2

      See identical proteins and their annotated locations for NP_795980.2

      Status: VALIDATED

      Source sequence(s)
      AC114408, AC122744
      Consensus CDS
      CCDS51508.1
      UniProtKB/Swiss-Prot
      Q3UVW7, Q6P5U7, Q8CHA7
      Related
      ENSMUSP00000124712.2, ENSMUST00000159584.3
      Conserved Domains (4) summary
      COG2319
      Location:1092 → 1448
      WD40; WD40 repeat [General function prediction only]
      pfam13191
      Location:394 → 539
      AAA_16; AAA ATPase domain
      sd00039
      Location:1013 → 1063
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:1164 → 1425
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      63806446..63967889
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006503991.5 → XP_006504054.1  NACHT and WD repeat domain-containing protein 2 isoform X2

      Conserved Domains (3) summary
      COG2319
      Location:951 → 1307
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:872 → 922
      7WD40; WD40 repeat [structural motif]
      pfam13191
      Location:253 → 382
      AAA_16; AAA ATPase domain

    2. XM_036165207.1 → XP_036021100.1  NACHT and WD repeat domain-containing protein 2 isoform X1

      Conserved Domains (3) summary
      COG2319
      Location:985 → 1341
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:906 → 956
      7WD40; WD40 repeat [structural motif]
      pfam13191
      Location:287 → 416
      AAA_16; AAA ATPase domain

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_028470.1: Suppressed sequence

      Description
      NM_028470.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P5U7.2 GenPept UniProtKB/Swiss-Prot:Q6P5U7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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