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

Gene ID: 66866, updated on 5-Mar-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)
  • Gene trapped (1) 
  • Targeted (1) 
  • Endonuclease-mediated (2)  1 citation

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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