U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    NHLRC2 NHL repeat containing 2 [ Homo sapiens (human) ]

    Gene ID: 374354, updated on 5-Mar-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    NHLRC2provided by HGNC
    Official Full Name
    NHL repeat containing 2provided by HGNC
    Primary source
    HGNC:HGNC:24731
    See related
    Ensembl:ENSG00000196865 MIM:618277; AllianceGenome:HGNC:24731
    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
    FINCA
    Summary
    Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart (RPKM 7.9), thyroid (RPKM 6.2) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    10q25.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (113854661..113917194)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (114746230..114808754)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (115614420..115676953)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA17 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:115580091-115580590 Neighboring gene DNA cross-link repair 1A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2838 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:115614900-115615604 Neighboring gene uncharacterized LOC124902506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4073 Neighboring gene uncharacterized LOC124902507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:115718423-115718923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4076 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4077 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:115757305-115757863 Neighboring gene uncharacterized LOC105378492

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. NHLRC2 expression is increased in idiopathic pulmonary fibrosis. Kreus M, et al. Respir Res, 2022 Aug 13. PMID 35964085, Free PMC Article
    2. Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome. Brodsky NN, et al. J Hum Genet, 2020 Oct. PMID 32435055
    3. Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease. Biterova E, et al. PLoS One, 2018. PMID 30138417, Free PMC Article
    4. ROS-induced cleavage of NHLRC2 by caspase-8 leads to apoptotic cell death in the HCT116 human colon cancer cell line. Nishi K, et al. Cell Death Dis, 2017 Dec 14. PMID 29242562, Free PMC Article
    5. Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease. Paakkola T, et al. Hum Mol Genet, 2018 Dec 15. PMID 30239752

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
      Title: Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
    2. NHLRC2 expression is increased in idiopathic pulmonary fibrosis.
      Title: NHLRC2 expression is increased in idiopathic pulmonary fibrosis.
    3. Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome.
      Title: Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome.
    4. Study identified a novel cerebropulmonary and multi-organ disease characterised by a unique combination of tissue fibrosis, neurodegeneration and cerebral angiomatosis, and identified identical compound heterozygous NHLRC2 variants in three affected children from two unrelated families. Also created a KO mouse model and zebrafish morphants to investigate the consequences of absent or decreased Nhlrc2 expression.
      Title: NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
    5. We conclude that compound heterozygous p.Asp148Tyr and p.Arg201GlyfsTer6 mutations in NHLRC2 lead to severe tissue fibrosis in humans by enhancing the differentiation of fibroblasts to myofibroblasts.
      Title: Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease.
    6. Bioinformatics analysis discovers homologs across a range of eukaryotic and prokaryotic species and conserved residues map mostly to the adjacent surfaces of the Trx-like and beta-propeller domains that form the cleft, suggesting both that this forms the potential functional site of NHLRC2 and that the function is conserved across species.
      Title: Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease.
    7. Reactive oxygen species-induced cleavage of NHLRC2 by caspase-8 leads to apoptotic cell death in the HCT116 human colon cancer cells.
      Title: ROS-induced cleavage of NHLRC2 by caspase-8 leads to apoptotic cell death in the HCT116 human colon cancer cell line.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Fibrosis, neurodegeneration, and cerebral angiomatosis
    MedGen: C4748939 OMIM: 618278 GeneReviews: Not available
    		not available

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ20147, FLJ25621, FLJ33312, MGC45492, DKFZp779F115

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    NHL repeat-containing protein 2
    Names
    1200003G01Rik
    novel NHL repeat domain containing protein

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_198514.4 → NP_940916.2  NHL repeat-containing protein 2

      See identical proteins and their annotated locations for NP_940916.2

      Status: VALIDATED

      Source sequence(s)
      AK090631, AK098487, AL162407, AL832090, BX538287
      Consensus CDS
      CCDS7585.1
      UniProtKB/Swiss-Prot
      Q8N1H1, Q8N5A6, Q8NBF2
      Related
      ENSP00000358307.3, ENST00000369301.3
      Conserved Domains (2) 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 ...
      cd14951
      Location:261 → 624
      NHL-2_like; NHL repeat domain of NHL repeat-containing protein 2 and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      113854661..113917194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539769.4 → XP_011538071.1  NHL repeat-containing protein 2 isoform X1

      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:226 → 263
      NHL; NHL repeat [structural motif]
      cd14951
      Location:261 → 624
      NHL-2_like; NHL repeat domain of NHL repeat-containing protein 2 and similar proteins
      cl18310
      Location:165 → 316
      NHL; NHL repeat unit of beta-propeller proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      114746230..114808754
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365798.1 → XP_054221773.1  NHL repeat-containing protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NBF2.1 GenPept UniProtKB/Swiss-Prot:Q8NBF2

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous