Aliases for NHLRC2 Gene

Aliases for NHLRC2 Gene

  • NHL Repeat Containing 2 2 3 5
  • NHL Repeat-Containing Protein 2 3 4
  • Novel NHL Repeat Domain Containing Protein 3
  • 1200003G01Rik 3
  • FINCA 3

External Ids for NHLRC2 Gene

Previous GeneCards Identifiers for NHLRC2 Gene

  • GC10P115280
  • GC10P115604
  • GC10P109241

Summaries for NHLRC2 Gene

GeneCards Summary for NHLRC2 Gene

NHLRC2 (NHL Repeat Containing 2) is a Protein Coding gene. Diseases associated with NHLRC2 include Fibrosis, Neurodegeneration, And Cerebral Angiomatosis and Angiomatosis. Among its related pathways are Response to elevated platelet cytosolic Ca2+.

UniProtKB/Swiss-Prot Summary for NHLRC2 Gene

Additional gene information for NHLRC2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NHLRC2 Gene

Genomics for NHLRC2 Gene

GeneHancer (GH) Regulatory Elements for NHLRC2 Gene

Promoters and enhancers for NHLRC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J113851 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.5 -531 6.6 ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A TCF12 POLR2G NCOR1 GTF2E2 PHF8 DCLRE1A NHLRC2 lnc-NRAP-4 TCF7L2 ENSG00000212589
GH10J114645 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.3 +795.7 795690 11.4 ZSCAN5C TCF12 NCOR1 RBAK JUND FOS ZNF639 ZNF354C ZNF10 ZNF623 FAM160B1 CCDC186 NHLRC2 RF01210-061 lnc-AFAP1L2-5 ABLIM1
GH10J114365 Enhancer 1.1 Ensembl ENCODE dbSUPER 5.3 +513.0 512969 3.2 ZSCAN5C TCF12 JUND MXI1 ZNF341 OSR2 ZBTB17 GATA3 FOSL2 CEBPB VWA2 NHLRC2 AFAP1L2 HSALNG0080800
GH10J113878 Enhancer 0.7 Ensembl 0.3 +25.6 25568 2 EP300 MEF2C RCOR1 TRIM22 BCL11A ZNF384 ARNT MEF2B NBN BATF ENSG00000287857 NHLRC2 lnc-ADRB1-4
GH10J113895 Enhancer 0.5 Ensembl 0.3 +40.5 40469 1.4 FOS CEBPB JUN STAT3 JUND PRDM1 TCF7L2 BHLHE40 MYC ADRB1 lnc-ADRB1-4 ENSG00000287857 NHLRC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NHLRC2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NHLRC2

Top Transcription factor binding sites by QIAGEN in the NHLRC2 gene promoter:
  • AML1a
  • ATF6
  • CREB
  • Lhx3a
  • LHX3b
  • p53

Genomic Locations for NHLRC2 Gene

Genomic Locations for NHLRC2 Gene
chr10:113,854,632-113,917,194
(GRCh38/hg38)
Size:
62,563 bases
Orientation:
Plus strand
chr10:115,614,391-115,676,953
(GRCh37/hg19)
Size:
62,563 bases
Orientation:
Plus strand

Genomic View for NHLRC2 Gene

Genes around NHLRC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NHLRC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NHLRC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NHLRC2 Gene

Proteins for NHLRC2 Gene

  • Protein details for NHLRC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBF2-NHLC2_HUMAN
    Recommended name:
    NHL repeat-containing protein 2
    Protein Accession:
    Q8NBF2
    Secondary Accessions:
    • Q8N1H1
    • Q8N5A6

    Protein attributes for NHLRC2 Gene

    Size:
    726 amino acids
    Molecular mass:
    79444 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=BAC05316.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NHLRC2 Gene

    Alternative splice isoforms for NHLRC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NHLRC2 Gene

Post-translational modifications for NHLRC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NHLRC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NHLRC2 Gene

Domains & Families for NHLRC2 Gene

Gene Families for NHLRC2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for NHLRC2 Gene

GenScript: Design optimal peptide antigens:
  • NHL repeat-containing protein 2 (NHLC2_HUMAN)
genes like me logo Genes that share domains with NHLRC2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NHLRC2 Gene

Function for NHLRC2 Gene

Molecular function for NHLRC2 Gene

UniProtKB/Swiss-Prot Function:
Required for normal embryonic development.

Phenotypes From GWAS Catalog for NHLRC2 Gene

Gene Ontology (GO) - Molecular Function for NHLRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI,IEA 25416956
genes like me logo Genes that share ontologies with NHLRC2: view
genes like me logo Genes that share phenotypes with NHLRC2: view

Human Phenotype Ontology for NHLRC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NHLRC2 Gene

MGI Knock Outs for NHLRC2:
  • Nhlrc2 Nhlrc2<tm1a(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for NHLRC2

CRISPR Products

miRNA for NHLRC2 Gene

miRTarBase miRNAs that target NHLRC2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NHLRC2 Gene

Localization for NHLRC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NHLRC2 Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NHLRC2 gene
Compartment Confidence
cytosol 5
extracellular 4
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NHLRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,IDA 30239752
GO:0031093 platelet alpha granule lumen TAS --
genes like me logo Genes that share ontologies with NHLRC2: view

Pathways & Interactions for NHLRC2 Gene

genes like me logo Genes that share pathways with NHLRC2: view

Gene Ontology (GO) - Biological Process for NHLRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0045454 cell redox homeostasis IEA --
genes like me logo Genes that share ontologies with NHLRC2: view

No data available for SIGNOR curated interactions for NHLRC2 Gene

Drugs & Compounds for NHLRC2 Gene

No Compound Related Data Available

Transcripts for NHLRC2 Gene

mRNA/cDNA for NHLRC2 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NHLRC2 Gene

No ASD Table

Relevant External Links for NHLRC2 Gene

GeneLoc Exon Structure for
NHLRC2

Expression for NHLRC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NHLRC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NHLRC2 Gene

This gene is overexpressed in Uterus (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NHLRC2 Gene



Protein tissue co-expression partners for NHLRC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NHLRC2

SOURCE GeneReport for Unigene cluster for NHLRC2 Gene:

Hs.369924

mRNA Expression by UniProt/SwissProt for NHLRC2 Gene:

Q8NBF2-NHLC2_HUMAN
Tissue specificity: Ubiquitous. Detected in heart, kidney, muscle, brain, lung, liver and in skin fibroblasts (at protein level).

Evidence on tissue expression from TISSUES for NHLRC2 Gene

  • Liver(4.3)
  • Stomach(4.2)
  • Nervous system(2.6)
genes like me logo Genes that share expression patterns with NHLRC2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NHLRC2 Gene

Orthologs for NHLRC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NHLRC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NHLRC2 31 30
  • 99.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NHLRC2 31 30
  • 91.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NHLRC2 31 30
  • 90.13 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nhlrc2 17 31 30
  • 82.57 (n)
rat
(Rattus norvegicus)
Mammalia Nhlrc2 30
  • 81.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NHLRC2 31
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NHLRC2 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves NHLRC2 31 30
  • 74.43 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NHLRC2 31
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nhlrc2 30
  • 64.69 (n)
zebrafish
(Danio rerio)
Actinopterygii NHLRC2 (1 of 2) 31
  • 60 (a)
OneToMany
nhlrc2 31
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG12547 31 30
  • 52.67 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010610 30
  • 49.53 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G56500 30
  • 50.18 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.297 31
  • 28 (a)
OneToOne
Species where no ortholog for NHLRC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NHLRC2 Gene

ENSEMBL:
Gene Tree for NHLRC2 (if available)
TreeFam:
Gene Tree for NHLRC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NHLRC2: view image

Paralogs for NHLRC2 Gene

(1) SIMAP similar genes for NHLRC2 Gene using alignment to 1 proteins:

  • NHLC2_HUMAN
genes like me logo Genes that share paralogs with NHLRC2: view

No data available for Paralogs for NHLRC2 Gene

Variants for NHLRC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NHLRC2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs201701259 Pathogenic: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS. Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) [MIM:618278] 113,876,631(+) G/Tp.Asp148Tyr MISSENSE_VARIANT
rs757267294 Pathogenic: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS 113,876,789(+) CAG/C FRAMESHIFT_VARIANT
rs7913176 - p.Val314Ile

Additional dbSNP identifiers (rs#s) for NHLRC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for NHLRC2 Gene

Variant ID Type Subtype PubMed ID
nsv428238 CNV loss 18775914
nsv517356 CNV gain+loss 19592680
nsv525892 CNV loss 19592680
nsv552201 CNV loss 21841781
nsv7211 OTHER inversion 18451855
nsv831995 CNV gain+loss 17160897

Variation tolerance for NHLRC2 Gene

Residual Variation Intolerance Score: 80% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.80; 86.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NHLRC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NHLRC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NHLRC2 Gene

Disorders for NHLRC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NHLRC2 Gene - From: OMIM, ClinVar, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NHLC2_HUMAN
  • Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) [MIM:618278]: An autosomal recessive, early-onset and fatal disorder clinically characterized by progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and transient liver dysfunction. Death occurs in the first years of life due to respiratory failure. Post-mortem neuropathological examination reveals increased angiomatosis-like leptomeningeal, cortical and superficial white matter vascularisation and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration. Interstitial fibrosis and granuloma-like lesions are observed in the lungs. Hepatomegaly, steatosis and collagen accumulation are detected in the liver. {ECO:0000269 PubMed:29423877}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NHLRC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NHLRC2: view

No data available for Genatlas for NHLRC2 Gene

Publications for NHLRC2 Gene

  1. Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease. (PMID: 30138417) Biterova E … Ruddock LW (PloS one 2018) 2 3 4 54
  2. Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease. (PMID: 30239752) Paakkola T … Hinttala R (Human molecular genetics 2018) 3 4 54
  3. Identification of phagocytosis regulators using magnetic genome-wide CRISPR screens. (PMID: 30397336) Haney MS … Bassik MC (Nature genetics 2018) 2 3 54
  4. NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. (PMID: 29423877) Uusimaa J … Hinttala R (Acta neuropathologica 2018) 3 4 54
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41 54

Products for NHLRC2 Gene

Sources for NHLRC2 Gene