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] See more...

Aliases for UNC79 Gene

Aliases for UNC79 Gene

  • Unc-79 Homolog, NALCN Channel Complex Subunit 2 3 5
  • KIAA1409 2 3 4
  • Protein Unc-79 Homolog 3 4
  • Unc-79 Homolog (C. Elegans) 2
  • Unc-79 Homolog 3
  • UNC79 5

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 Alternating Esotropia and Esotropia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for UNC79 Gene

Genomics for UNC79 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH14J093329 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 607.3 -1.2 -1228 5.7 CREB1 GATAD2A PRDM10 ZNF629 TFE3 IKZF1 CTCF POLR2A ZNF7 BACH1 BTBD7 UNC79 COX8C FAM181A-AS1 ENSG00000278396 HE855966 GON7
GH14J093298 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 18.9 -29.3 -29281 13.8 ZNF629 ZNF692 ZSCAN4 ZNF600 SOX6 SCRT2 ZBTB44 CEBPB ZNF316 OSR2 BTBD7 UNC79 COX8C UBR7 OTUB2 PRIMA1 HE855966 GON7
GH14J093533 Enhancer 1 FANTOM5 Ensembl ENCODE 9.8 +200.7 200719 4.6 IKZF2 SOX6 PKNOX1 SCRT2 RELB MEF2D ELF1 IKZF1 GATA3 SPI1 UNC79 BTBD7 TMEM251 MOAP1 KR153194-054 piR-37586-020 COX8C PRIMA1
GH14J092844 Enhancer 1.3 FANTOM5 Ensembl ENCODE 6.7 -485.9 -485881 7.8 SP1 PRDM10 JUND PHF21A ZIC2 POLR2A IKZF2 HDAC1 SOX6 EP300 TMEM251 BTBD7 ATXN3 TRIP11 CHGA UNC79 GOLGA5 RIN3 CPSF2 MOAP1
GH14J093072 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.5 -259.0 -259048 3.4 CEBPG GATAD2A BACH1 SMAD5 IKZF2 SP1 TRIM22 PKNOX1 CEBPA EED TMEM251 ITPK1 UNC79 MOAP1 BTBD7 ITPK1-AS1 CHGA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UNC79 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UNC79

Genomic Locations for UNC79 Gene

Genomic Locations for UNC79 Gene
chr14:93,333,182-93,710,473
(GRCh38/hg38)
Size:
377,292 bases
Orientation:
Plus strand
chr14:93,799,565-94,174,222
(GRCh37/hg19)
Size:
374,658 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for UNC79 Gene

Domains & Families for UNC79 Gene

Gene Families for UNC79 Gene

Protein Domains for UNC79 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UNC79 Gene

GenScript: Design optimal peptide antigens:
  • Protein unc-79 homolog (UNC79_HUMAN)

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

Gene Ontology (GO) - Molecular Function for UNC79 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with UNC79: view
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UNC79

No data available for Enzyme Numbers (IUBMB) , 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 4
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (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

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

mRNA/cDNA for UNC79 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UNC79

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

Expression for UNC79 Gene

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



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

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 30 31
  • 99.65 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia UNC79 30 31
  • 91.63 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UNC79 30 31
  • 91.4 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Unc79 30 17 31
  • 89 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Unc79 30
  • 88.87 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia UNC79 31
  • 85 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia UNC79 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves UNC79 30 31
  • 79.28 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UNC79 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia unc79 30
  • 75.88 (n)
Zebrafish
(Danio rerio)
Actinopterygii CABZ01080274.1 31
  • 58 (a)
OneToMany
UNC79 (1 of 2) 31
  • 46 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta unc79 30 31
  • 49.92 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea unc-79 30 31
  • 47.03 (n)
OneToOne
Species where no ortholog for UNC79 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for UNC79: view image

Paralogs for UNC79 Gene

No data available for Paralogs for UNC79 Gene

Variants for UNC79 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UNC79 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs34816083 Uncertain Significance: Malignant tumor of prostate 93,618,295(+) C/T MISSENSE_VARIANT
rs2296687 - p.Lys2183Arg
rs28670114 - p.Val1597Ala
rs4905081 - p.Val1670Ile
rs7359096 - p.Gly2444Ser

Additional dbSNP identifiers (rs#s) for UNC79 Gene

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

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

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for UNC79 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UNC79 Gene - From: DISEASES

Disorder Aliases PubMed IDs
alternating esotropia
esotropia
  • convergence in manifest squint
tobacco addiction
  • tobacco addiction, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search UNC79 in MalaCards View complete list of genes associated with diseases
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. 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
  2. Conserved role of unc-79 in ethanol responses in lightweight mutant mice. (PMID: 20714347) Speca DJ … McIntire SL (PLoS genetics 2010) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  5. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3

Products for UNC79 Gene

Sources for UNC79 Gene