Aliases for UNC119B Gene

Aliases for UNC119B Gene

  • Unc-119 Lipid Binding Chaperone B 2 3 5
  • Protein Unc-119 Homolog B 3 4
  • POC7B 2 3
  • POC7 Centriolar Protein Homolog B (Chlamydomonas) 2
  • POC7 Centriolar Protein Homolog B 3
  • Unc-119 Homolog B (C. Elegans) 2
  • Unc119 (C.Elegans) Homolog B 2
  • Unc-119 Homolog B 3
  • UNC119B 5
  • MGC5139 2

External Ids for UNC119B Gene

Previous GeneCards Identifiers for UNC119B Gene

  • GC00U991105
  • GC12U900457
  • GC12P119634
  • GC12P121147
  • GC12P118157

Summaries for UNC119B Gene

GeneCards Summary for UNC119B Gene

UNC119B (Unc-119 Lipid Binding Chaperone B) is a Protein Coding gene. Diseases associated with UNC119B include Joubert Syndrome 22 and Retinitis Pigmentosa 2. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is UNC119.

UniProtKB/Swiss-Prot Summary for UNC119B Gene

  • Myristoyl-binding protein that acts as a cargo adapter: specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated NPHP3 and plays a key role in localization of NPHP3 to the primary cilium membrane. Does not bind all myristoylated proteins. Probably plays a role in trafficking proteins in photoreceptor cells.

Additional gene information for UNC119B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UNC119B Gene

Genomics for UNC119B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UNC119B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UNC119B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UNC119B

Top Transcription factor binding sites by QIAGEN in the UNC119B gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • Gfi-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Sox5

Genomic Locations for UNC119B Gene

Genomic Locations for UNC119B Gene
chr12:120,710,458-120,723,640
(GRCh38/hg38)
Size:
13,183 bases
Orientation:
Plus strand
chr12:121,147,831-121,161,443
(GRCh37/hg19)
Size:
13,613 bases
Orientation:
Plus strand

Genomic View for UNC119B Gene

Genes around UNC119B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UNC119B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UNC119B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UNC119B Gene

Proteins for UNC119B Gene

  • Protein details for UNC119B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NIH7-U119B_HUMAN
    Recommended name:
    Protein unc-119 homolog B
    Protein Accession:
    A6NIH7

    Protein attributes for UNC119B Gene

    Size:
    251 amino acids
    Molecular mass:
    28137 Da
    Quaternary structure:
    • Found in a complex with ARL3, RP2 and UNC119B; RP2 induces hydrolysis of GTP ARL3 in the complex, leading to the release of UNC119B. Interacts with NPHP3 (when myristoylated). Interacts with CYS1 (when myristoylated). Interacts with MACIR; interaction only takes place when UNC119B is not liganded with myristoylated proteins.

neXtProt entry for UNC119B Gene

Post-translational modifications for UNC119B Gene

  • Ubiquitination at Lys86
  • Modification sites at PhosphoSitePlus

Other Protein References for UNC119B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UNC119B Gene

Domains & Families for UNC119B Gene

Gene Families for UNC119B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for UNC119B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UNC119B Gene

GenScript: Design optimal peptide antigens:
  • UNC119B protein (Q9BST3_HUMAN)
  • Protein unc-119 homolog B (U119B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A6NIH7

UniProtKB/Swiss-Prot:

U119B_HUMAN :
  • Adopts an immunoglobulin-like beta-sandwich fold forming a hydrophobic cavity that capture N-terminally myristoylated target peptides. Phe residues within the hydrophobic beta sandwich are required for myristate binding (PubMed:22085962).
  • Belongs to the PDE6D/unc-119 family.
Domain:
  • Adopts an immunoglobulin-like beta-sandwich fold forming a hydrophobic cavity that capture N-terminally myristoylated target peptides. Phe residues within the hydrophobic beta sandwich are required for myristate binding (PubMed:22085962).
Family:
  • Belongs to the PDE6D/unc-119 family.
genes like me logo Genes that share domains with UNC119B: view

Function for UNC119B Gene

Molecular function for UNC119B Gene

UniProtKB/Swiss-Prot Function:
Myristoyl-binding protein that acts as a cargo adapter: specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated NPHP3 and plays a key role in localization of NPHP3 to the primary cilium membrane. Does not bind all myristoylated proteins. Probably plays a role in trafficking proteins in photoreceptor cells.

Phenotypes From GWAS Catalog for UNC119B Gene

Gene Ontology (GO) - Molecular Function for UNC119B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22085962
GO:0008289 lipid binding IBA,IDA 22085962
genes like me logo Genes that share ontologies with UNC119B: view

Animal Model Products

CRISPR Products

miRNA for UNC119B Gene

miRTarBase miRNAs that target UNC119B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UNC119B

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UNC119B Gene

Localization for UNC119B Gene

Subcellular locations from UniProtKB/Swiss-Prot for UNC119B Gene

Cell projection, cilium. Note=Enriched at the transition zone and extended into the proximal end of the cilium.

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 UNC119B gene
Compartment Confidence
cytosol 4
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Cytosol (2)
  • Mitochondria (2)
  • Mitotic spindle (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UNC119B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005929 cilium IBA,TAS --
GO:0035869 ciliary transition zone IDA 22085962
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with UNC119B: view

Pathways & Interactions for UNC119B Gene

genes like me logo Genes that share pathways with UNC119B: view

Gene Ontology (GO) - Biological Process for UNC119B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development IBA 21873635
GO:0015031 protein transport IEA --
GO:0030030 cell projection organization IEA --
GO:0042953 lipoprotein transport IDA 22085962
GO:0060271 cilium assembly IBA,IMP 22085962
genes like me logo Genes that share ontologies with UNC119B: view

No data available for SIGNOR curated interactions for UNC119B Gene

Drugs & Compounds for UNC119B Gene

No Compound Related Data Available

Transcripts for UNC119B Gene

mRNA/cDNA for UNC119B Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 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 UNC119B

Alternative Splicing Database (ASD) splice patterns (SP) for UNC119B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6
SP1: -
SP2:
SP3:

Relevant External Links for UNC119B Gene

GeneLoc Exon Structure for
UNC119B

Expression for UNC119B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UNC119B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UNC119B Gene

This gene is overexpressed in Fetal ovary (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UNC119B Gene



Protein tissue co-expression partners for UNC119B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UNC119B

SOURCE GeneReport for Unigene cluster for UNC119B Gene:

Hs.127610

Evidence on tissue expression from TISSUES for UNC119B Gene

  • Liver(4.2)
  • Nervous system(3.3)
  • Eye(2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with UNC119B: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UNC119B Gene

Orthologs for UNC119B Gene

This gene was present in the common ancestor of animals.

Orthologs for UNC119B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UNC119B 30 31
  • 99.73 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia UNC119B 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia UNC119B 30 31
  • 93.63 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UNC119B 30 31
  • 90.31 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Unc119b 30 17 31
  • 85.39 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Unc119b 30
  • 85.39 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia UNC119B 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves UNC119B 30 31
  • 76.42 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UNC119B 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia unc119b 30
  • 74.47 (n)
Zebrafish
(Danio rerio)
Actinopterygii unc119.1 30 31
  • 71.28 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta unc-119 31
  • 48 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-119 30 31
  • 62.43 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11065 31
  • 56 (a)
OneToMany
Species where no ortholog for UNC119B 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 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 UNC119B Gene

ENSEMBL:
Gene Tree for UNC119B (if available)
TreeFam:
Gene Tree for UNC119B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UNC119B: view image

Paralogs for UNC119B Gene

Paralogs for UNC119B Gene

(2) SIMAP similar genes for UNC119B Gene using alignment to 2 proteins:

  • U119B_HUMAN
  • Q9BST3_HUMAN
genes like me logo Genes that share paralogs with UNC119B: view

Variants for UNC119B Gene

Additional dbSNP identifiers (rs#s) for UNC119B Gene

Structural Variations from Database of Genomic Variants (DGV) for UNC119B Gene

Variant ID Type Subtype PubMed ID
esv2658765 CNV deletion 23128226
esv3630930 CNV loss 21293372
nsv1143712 CNV deletion 24896259
nsv521928 CNV gain 19592680

Variation tolerance for UNC119B Gene

Residual Variation Intolerance Score: 35.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UNC119B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UNC119B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UNC119B Gene

Disorders for UNC119B Gene

MalaCards: The human disease database

(7) MalaCards diseases for UNC119B Gene - From: DISEASES

Disorder Aliases PubMed IDs
joubert syndrome 22
  • jbts22
retinitis pigmentosa 2
  • rp2
optic disk drusen
  • drusen of optic disc
joubert syndrome 1
  • jbts1
nephronophthisis
  • medullary cystic disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UNC119B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with UNC119B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UNC119B Gene

Publications for UNC119B Gene

  1. Uncoordinated (UNC)119: coordinating the trafficking of myristoylated proteins. (PMID: 23000199) Constantine R … Baehr W (Vision research 2012) 2 3
  2. An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. (PMID: 22085962) Wright KJ … Jackson PK (Genes & development 2011) 3 4
  3. Human metabolic individuality in biomedical and pharmaceutical research. (PMID: 21886157) Suhre K … Gieger C (Nature 2011) 3 41
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  5. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 3 4

Products for UNC119B Gene

Sources for UNC119B Gene