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    NUDCD2 NudC domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 134492, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NUDCD2provided by HGNC
    Official Full Name
    NudC domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:30535
    See related
    Ensembl:ENSG00000170584 MIM:620136; AllianceGenome:HGNC:30535
    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
    NudCL2
    Summary
    Predicted to enable unfolded protein binding activity. Predicted to be involved in protein folding. Located in cytosol; intercellular bridge; and mitotic spindle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 16.1), prostate (RPKM 14.4) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See NUDCD2 in Genome Data Viewer
    Location:
    5q34
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (163446526..163460102, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (163981702..163995279, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (162873532..162887108, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L57 pseudogene 6 Neighboring gene uncharacterized LOC105377700 Neighboring gene NANOG hESC enhancer GRCh37_chr5:162605640-162606379 Neighboring gene uncharacterized LOC124901125 Neighboring gene MPRA-validated peak5562 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:162756879-162757856 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:162757857-162758834 Neighboring gene NANOG hESC enhancer GRCh37_chr5:162800374-162800875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16589 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:162864697-162865274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23577 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16590 Neighboring gene cyclin G1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:162929934-162930742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:162932358-162933164 Neighboring gene HMMR antisense RNA 1 Neighboring gene hyaluronan mediated motility receptor Neighboring gene methionine adenosyltransferase 2 non-catalytic beta subunit

    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 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. Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure. Scheuerle AE, et al. Am J Med Genet A, 2023 Sep. PMID 37272762
    2. NudCL2 is required for cytokinesis by stabilizing RCC2 with Hsp90 at the midbody. Xu X, et al. Protein Cell, 2024 Oct 1. PMID 38801297, Free PMC Article
    3. NudC-like protein 2 regulates the LIS1/dynein pathway by stabilizing LIS1 with Hsp90. Yang Y, et al. Proc Natl Acad Sci U S A, 2010 Feb 23. PMID 20133715, Free PMC Article
    4. NudC-like protein 2 restrains centriole amplification by stabilizing HERC2. Li M, et al. Cell Death Dis, 2019 Aug 19. PMID 31427565, Free PMC Article
    5. Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism. Hietamäki J, et al. J Clin Endocrinol Metab, 2020 Jun 1. PMID 32060556, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NudCL2 is required for cytokinesis by stabilizing RCC2 with Hsp90 at the midbody.
      Title: NudCL2 is required for cytokinesis by stabilizing RCC2 with Hsp90 at the midbody.
    2. Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure.
      Title: Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure.
    3. NudCL2 regulates cell migration by stabilizing both myosin-9 and LIS1 with Hsp90.
      Title: NudCL2 regulates cell migration by stabilizing both myosin-9 and LIS1 with Hsp90.
    4. NudC-like protein 2 restrains centriole amplification by stabilizing HERC2.
      Title: NudC-like protein 2 restrains centriole amplification by stabilizing HERC2.
    5. NudCL2, a homolog of Aspergillus NudC, which shares significant homology with human NudC and NudCL was identified. It regulates the LIS1/dynein pathway by stabilizing LIS1 with Hsp90 chaperone.
      Title: NudC-like protein 2 regulates the LIS1/dynein pathway by stabilizing LIS1 with Hsp90.
    Submit: New GeneRIF Correction

    Phenotypes

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    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp686E10109

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
    		  
    located_in kinetochore IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in spindle pole IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    nudC domain-containing protein 2
    Names
    NudC-like 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_001329991.2 → NP_001316920.1  nudC domain-containing protein 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC112205
      Conserved Domains (1) summary
      cl00175
      Location:2 → 54
      alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.

    2. NM_145266.6 → NP_660309.1  nudC domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_660309.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC112205, BX538290, DA120610
      Consensus CDS
      CCDS4361.1
      UniProtKB/Swiss-Prot
      B2R4V0, Q8WVJ2
      UniProtKB/TrEMBL
      E5RFP0
      Related
      ENSP00000304854.3, ENST00000302764.9
      Conserved Domains (1) summary
      cd06494
      Location:12 → 104
      p23_NUDCD2_like; p23-like NUD (nuclear distribution) C-like found in human NUDC domain-containing protein 2 (NUDCD2) and similar proteins. Little is known about the function of the proteins in this subgroup.

    RNA

    1. NR_138426.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC112205

    2. NR_138427.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC112205
      Related
      ENST00000717760.1

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      163446526..163460102 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      163981702..163995279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WVJ2.1 GenPept UniProtKB/Swiss-Prot:Q8WVJ2

    Gene LinkOut

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

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