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    NWD2 NACHT and WD repeat domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 57495, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NWD2provided by HGNC
    Official Full Name
    NACHT and WD repeat domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:29229
    See related
    Ensembl:ENSG00000174145 MIM:620172; AllianceGenome:HGNC:29229
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KIAA1239
    Summary
    Predicted to be active in synapse. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 3.2), thyroid (RPKM 0.7) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NWD2 in Genome Data Viewer
    Location:
    4p14
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (37244743..37449463)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (37213081..37418202)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (37246365..37451085)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928721 Neighboring gene uncharacterized LOC105374402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37147574-37148074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37148075-37148575 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_78898 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_78906 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_78938 Neighboring gene microRNA 4801 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_78969 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15347 Neighboring gene Sharpr-MPRA regulatory region 2247 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:37442795-37443994 Neighboring gene uncharacterized LOC124900691 Neighboring gene PDCD10 and GCKIII kinases associated 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37541047-37541547 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:37562271-37562772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37591458-37591958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37591959-37592459 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:37608503-37609142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37636677-37637177 Neighboring gene RELT like 1 Neighboring gene HNF4 motif-containing MPRA enhancer 255 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:37655185-37655838 Neighboring gene Sharpr-MPRA regulatory region 2227 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:37667691-37668890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15348

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1999 Oct 29. PMID 10574462
    2. SOCS2 Binds to and Regulates EphA2 through Multiple Mechanisms. Pilling C, et al. Sci Rep, 2017 Sep 7. PMID 28883622, Free PMC Article
    3. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    4. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
    5. MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons. Liu Y, et al. Neuron, 2024 Jun 19. PMID 38697112

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 GOA

    Component Evidence Code Pubs
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    NACHT and WD repeat domain-containing protein 2

    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_001144990.2 → NP_001138462.1  NACHT and WD repeat domain-containing protein 2

      See identical proteins and their annotated locations for NP_001138462.1

      Status: VALIDATED

      Source sequence(s)
      AC022463, AC104690, AC107400
      Consensus CDS
      CCDS47040.1
      UniProtKB/Swiss-Prot
      A8MRU1, Q9ULI1
      Related
      ENSP00000309501.5, ENST00000309447.6
      Conserved Domains (4) summary
      COG2319
      Location:1100 → 1435
      WD40; WD40 repeat [General function prediction only]
      pfam13191
      Location:394 → 539
      AAA_16; AAA ATPase domain
      sd00039
      Location:1013 → 1051
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:978 → 1302
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      37244743..37449463
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      37213081..37418202
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULI1.3 GenPept UniProtKB/Swiss-Prot:Q9ULI1

    Gene LinkOut

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

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