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Aliases for UNC79 Gene

Aliases for UNC79 Gene

  • Unc-79 Homolog, NALCN Channel Complex Subunit 2 3 5
  • KIAA1409 2 3 4
  • Unc-79 Homolog (C. Elegans) 2
  • Protein Unc-79 Homolog 3
  • Unc-79 Homolog 3

External Ids for UNC79 Gene

Previous HGNC Symbols for UNC79 Gene

  • KIAA1409

Previous GeneCards Identifiers for UNC79 Gene

  • GC14P093800

Summaries for UNC79 Gene

Entrez Gene Summary for UNC79 Gene

  • The NALCN channel is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of the channel. [provided by RefSeq, Sep 2016]

GeneCards Summary for UNC79 Gene

UNC79 (Unc-79 Homolog, NALCN Channel Complex Subunit) is a Protein Coding gene. Diseases associated with UNC79 include Esotropia. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot for UNC79 Gene

  • Component of the NALCN sodium channel complex, a cation channel activated either by neuropeptides substance P or neurotensin that controls neuronal excitability.

Additional gene information for UNC79 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UNC79 Gene

Genomics for UNC79 Gene

GeneHancer (GH) Regulatory Elements for UNC79 Gene

Promoters and enhancers for UNC79 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
GH14I093329 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 557.4 -1.4 -1407 5.4 PKNOX1 CLOCK FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 BTBD7 UNC79 FAM181A-AS1 ENSG00000241499
GH14I093467 Promoter 0.5 EPDnew 550.1 +134.4 134422 0.1 UNC79 GC14P093473 RNU6-1258P
GH14I093298 Enhancer 1.2 Ensembl ENCODE dbSUPER 18.9 -30.2 -30230 9.4 PKNOX1 ZSCAN4 ZNF2 ZNF121 SCRT2 ZNF362 ZEB2 ZNF148 ATF4 MAFF BTBD7 UNC79 COX8C UBR7 ENSG00000241499
GH14I093308 Enhancer 0.6 ENCODE dbSUPER 17.8 -23.8 -23825 1.8 OSR2 GATA3 PRDM6 BTBD7 UNC79 COX8C ENSG00000241499
GH14I093533 Enhancer 1 FANTOM5 Ensembl ENCODE 9.8 +200.6 200588 1.1 MEIS2 SOX6 ELF1 IRF4 MEF2D GATA3 SCRT2 IKZF1 IKZF2 SPI1 UNC79 BTBD7 TMEM251 MOAP1 GC14P093473 ENSG00000277826
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UNC79 on UCSC Golden Path with GeneCards custom track

Genomic Locations for UNC79 Gene

Genomic Locations for UNC79 Gene
chr14:93,333,219-93,707,878
(GRCh38/hg38)
Size:
374,660 bases
Orientation:
Plus strand
chr14:93,799,565-94,174,222
(GRCh37/hg19)

Genomic View for UNC79 Gene

Genes around UNC79 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UNC79 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UNC79 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UNC79 Gene

Proteins for UNC79 Gene

  • Protein details for UNC79 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2D8-UNC79_HUMAN
    Recommended name:
    Protein unc-79 homolog
    Protein Accession:
    Q9P2D8
    Secondary Accessions:
    • B5MDL6
    • Q6ZUT7

    Protein attributes for UNC79 Gene

    Size:
    2635 amino acids
    Molecular mass:
    295326 Da
    Quaternary structure:
    • Found in a complex with NALCN, UNC79 and UNC80; UNC80 bridges NALCN to UNC79.

    Alternative splice isoforms for UNC79 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UNC79 Gene

Post-translational modifications for UNC79 Gene

No Post-translational modifications

No data available for DME Specific Peptides for UNC79 Gene

Domains & Families for UNC79 Gene

Gene Families for UNC79 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for UNC79 Gene

Suggested Antigen Peptide Sequences for UNC79 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P2D8

UniProtKB/Swiss-Prot:

UNC79_HUMAN :
  • Belongs to the unc-79 family.
Family:
  • Belongs to the unc-79 family.
genes like me logo Genes that share domains with UNC79: view

Function for UNC79 Gene

Molecular function for UNC79 Gene

UniProtKB/Swiss-Prot Function:
Component of the NALCN sodium channel complex, a cation channel activated either by neuropeptides substance P or neurotensin that controls neuronal excitability.

Phenotypes From GWAS Catalog for UNC79 Gene

genes like me logo Genes that share phenotypes with UNC79: view

Animal Models for UNC79 Gene

MGI Knock Outs for UNC79:

Animal Model Products

CRISPR Products

miRNA for UNC79 Gene

miRTarBase miRNAs that target UNC79

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UNC79 Gene

Localization for UNC79 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UNC79 Gene

Membrane; Multi-pass membrane protein.

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 UNC79 gene
Compartment Confidence
plasma membrane 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UNC79 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with UNC79: view

Pathways & Interactions for UNC79 Gene

genes like me logo Genes that share pathways with UNC79: view

Pathways by source for UNC79 Gene

Interacting Proteins for UNC79 Gene

Gene Ontology (GO) - Biological Process for UNC79 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030534 adult behavior IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0035264 multicellular organism growth IEA --
GO:0048149 behavioral response to ethanol IEA --
genes like me logo Genes that share ontologies with UNC79: view

No data available for SIGNOR curated interactions for UNC79 Gene

Drugs & Compounds for UNC79 Gene

No Compound Related Data Available

Transcripts for UNC79 Gene

Unigene Clusters for UNC79 Gene

Unc-79 homolog (C. elegans):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UNC79 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1:
SP2: - - - - - - - - - - - - - - - - -
SP3:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44a · 44b · 44c ^ 45 ^ 46 ^ 47 ^ 48a ·
SP1: -
SP2: - - - - - - - - - - - - - - - - - - - - -
SP3:

ExUns: 48b · 48c
SP1:
SP2:
SP3:

Relevant External Links for UNC79 Gene

GeneLoc Exon Structure for
UNC79
ECgene alternative splicing isoforms for
UNC79

Expression for UNC79 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UNC79 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UNC79 Gene

This gene is overexpressed in Pituitary (x7.0), Brain - Cerebellum (x6.6), Brain - Cerebellar Hemisphere (x6.5), and Brain - Cortex (x4.6).

Protein differential expression in normal tissues from HIPED for UNC79 Gene

This gene is overexpressed in Serum (32.3) and Cervix (26.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UNC79 Gene



NURSA nuclear receptor signaling pathways regulating expression of UNC79 Gene:

UNC79

SOURCE GeneReport for Unigene cluster for UNC79 Gene:

Hs.126561

Evidence on tissue expression from TISSUES for UNC79 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with UNC79: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UNC79 Gene

Orthologs for UNC79 Gene

This gene was present in the common ancestor of animals.

Orthologs for UNC79 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UNC79 33 34
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia UNC79 33 34
  • 91.63 (n)
cow
(Bos Taurus)
Mammalia UNC79 33 34
  • 91.4 (n)
mouse
(Mus musculus)
Mammalia Unc79 33 16 34
  • 89 (n)
rat
(Rattus norvegicus)
Mammalia Unc79 33
  • 88.87 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UNC79 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UNC79 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves UNC79 33 34
  • 79.28 (n)
lizard
(Anolis carolinensis)
Reptilia UNC79 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia unc79 33
  • 75.88 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01080274.1 34
  • 58 (a)
OneToMany
UNC79 (1 of 2) 34
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta unc79 33 34
  • 49.92 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-79 33 34
  • 47.03 (n)
Species where no ortholog for UNC79 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UNC79 Gene

ENSEMBL:
Gene Tree for UNC79 (if available)
TreeFam:
Gene Tree for UNC79 (if available)

Paralogs for UNC79 Gene

No data available for Paralogs for UNC79 Gene

Variants for UNC79 Gene

Sequence variations from dbSNP and Humsavar for UNC79 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs34816083 uncertain-significance, Malignant tumor of prostate 93,618,295(+) C/T coding_sequence_variant, missense_variant
rs1000011634 -- 93,352,653(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000020735 -- 93,556,448(+) A/T genic_upstream_transcript_variant, intron_variant
rs1000030835 -- 93,639,820(+) T/A intron_variant
rs1000034822 -- 93,462,804(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for UNC79 Gene

Variant ID Type Subtype PubMed ID
nsv477891 CNV novel sequence insertion 20440878
nsv442355 CNV loss 18776908
nsv1404 CNV insertion 18451855
nsv1403 CNV insertion 18451855
nsv1153316 CNV duplication 26484159
nsv1130683 CNV deletion 24896259
nsv1116041 CNV deletion 24896259
nsv1112650 CNV deletion 24896259
nsv1079024 OTHER inversion 25765185
esv3635362 CNV gain 21293372
esv3635361 CNV loss 21293372
esv3551980 CNV deletion 23714750
esv3393610 CNV insertion 20981092
esv3384347 CNV insertion 20981092
esv3345634 CNV insertion 20981092
esv3309963 CNV mobile element insertion 20981092
esv2749033 CNV deletion 23290073
esv2749032 CNV deletion 23290073
esv2662647 CNV deletion 23128226
esv2614792 CNV insertion 19546169
esv2443272 OTHER inversion 19546169
esv1414204 CNV deletion 17803354

Variation tolerance for UNC79 Gene

Residual Variation Intolerance Score: 0.584% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.56; 65.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UNC79 Gene

Human Gene Mutation Database (HGMD)
UNC79
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UNC79

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UNC79 Gene

Disorders for UNC79 Gene

MalaCards: The human disease database

(1) MalaCards diseases for UNC79 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
esotropia
  • convergence in manifest squint
- elite association - COSMIC cancer census association via MalaCards
Search UNC79 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UNC79

genes like me logo Genes that share disorders with UNC79: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UNC79 Gene

Publications for UNC79 Gene

  1. Conserved role of unc-79 in ethanol responses in lightweight mutant mice. (PMID: 20714347) Speca DJ … McIntire SL (PLoS genetics 2010) 2 3 58
  2. Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex. (PMID: 21040849) Lu B … Ren D (Neuron 2010) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
  5. Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. (PMID: 26708753) Shamseldin HE … Alkuraya FS (American journal of human genetics 2016) 3 58

Products for UNC79 Gene

Sources for UNC79 Gene

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