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    Nhlrc2 NHL repeat containing 2 [ Mus musculus (house mouse) ]

    Gene ID: 66866, updated on 4-May-2024

    Summary

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    Official Symbol
    Nhlrc2provided by MGI
    Official Full Name
    NHL repeat containing 2provided by MGI
    Primary source
    MGI:MGI:1914116
    See related
    Ensembl:ENSMUSG00000025078 AllianceGenome:MGI:1914116
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1200003G01Rik
    Summary
    Predicted to be located in cytosol. Is expressed in central nervous system; cranial nerve; heart valve; incisor; and retina. Orthologous to human NHLRC2 (NHL repeat containing 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lung adult (RPKM 10.3), colon adult (RPKM 4.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    19 D2; 19 51.89 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (56536682..56591935)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (56548250..56603503)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing, family S member 1 Neighboring gene predicted gene, 53193 Neighboring gene DNA cross-link repair 1A Neighboring gene STARR-seq mESC enhancer starr_46527 Neighboring gene STARR-seq mESC enhancer starr_46528 Neighboring gene predicted gene, 32441 Neighboring gene predicted gene, 52389

    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. Nhlrc2 is crucial during mouse gastrulation. Hiltunen AE, et al. Genesis, 2022 Mar. PMID 35258166, Free PMC Article
    2. Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease. Hiltunen AE, et al. Mol Med, 2020 Dec 9. PMID 33297935, Free PMC Article
    3. Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease. Paakkola T, et al. Hum Mol Genet, 2018 Dec 15. PMID 30239752
    4. NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. Uusimaa J, et al. Acta Neuropathol, 2018 May. PMID 29423877
    5. Placentation defects are highly prevalent in embryonic lethal mouse mutants. Perez-Garcia V, et al. Nature, 2018 Mar 22. PMID 29539633, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Nhlrc2 is crucial during mouse gastrulation.
      Title: Nhlrc2 is crucial during mouse gastrulation.
    2. Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease.
      Title: Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2)  1 citation
    • Targeted (1) 
    • Gene trapped (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    NHL repeat-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_025811.3 → NP_080087.1  NHL repeat-containing protein 2

      See identical proteins and their annotated locations for NP_080087.1

      Status: PROVISIONAL

      Source sequence(s)
      AC116849, AC166746
      Consensus CDS
      CCDS29918.1
      UniProtKB/Swiss-Prot
      Q80XU0, Q8BZW8
      UniProtKB/TrEMBL
      B2RR26, Q9CW64
      Related
      ENSMUSP00000071370.6, ENSMUST00000071423.7
      Conserved Domains (4) summary
      cd03012
      Location:55 → 182
      TlpA_like_DipZ_like; TlpA-like family, DipZ-like subfamily; composed uncharacterized proteins containing a TlpA-like TRX domain. Some members show domain architectures similar to that of E. coli DipZ protein (also known as DsbD). The only eukaryotic members of the TlpA ...
      cd05819
      Location:163 → 208
      NHL; NHL repeat [structural motif]
      cd14951
      Location:261 → 623
      NHL-2_like; NHL repeat domain of NHL repeat-containing protein 2 and similar proteins
      cl18310
      Location:163 → 296
      NHL; NHL repeat unit of beta-propeller proteins

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      56536682..56591935
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006527267.5 → XP_006527330.1  NHL repeat-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      Q8C1S8
      Conserved Domains (1) summary
      cd14951
      Location:14 → 371
      NHL-2_like; NHL repeat domain of NHL repeat-containing protein 2 and similar proteins

    RNA

    1. XR_004940167.1 RNA Sequence

    2. XR_001782612.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BZW8.1 GenPept UniProtKB/Swiss-Prot:Q8BZW8

    Gene LinkOut

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

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