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

Gene ID: 374354, updated on 26-Nov-2024

Summary

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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, Nov 2024]
Expression
Ubiquitous expression in heart (RPKM 7.9), thyroid (RPKM 6.2) and 25 other tissues See more
Orthologs
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Genomic context

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See NHLRC2 in Genome Data Viewer
Location:
10q25.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (113854661..113917194)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (114746230..114808754)
RS_2024_09 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

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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. Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome. Brodsky NN, et al. J Hum Genet, 2020 Oct. PMID 32435055
  2. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. Sczakiel HL, et al. Eur J Hum Genet, 2023 Aug. PMID 37188825, Free PMC Article
  3. NHLRC2 expression is increased in idiopathic pulmonary fibrosis. Kreus M, et al. Respir Res, 2022 Aug 13. PMID 35964085, Free PMC Article
  4. 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
  5. 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

See all (44) 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

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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

Associated conditions

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

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

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

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Preferred Names
NHL repeat-containing protein 2
Names
1200003G01Rik
novel NHL repeat domain containing protein

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_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_2024_08

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

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