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Aliases for C5orf30 Gene

Aliases for C5orf30 Gene

  • Chromosome 5 Open Reading Frame 30 2 3 5
  • UNC119-Binding Protein 2

External Ids for C5orf30 Gene

Previous GeneCards Identifiers for C5orf30 Gene

  • GC05P102623
  • GC05P097775

Summaries for C5orf30 Gene

GeneCards Summary for C5orf30 Gene

C5orf30 (Chromosome 5 Open Reading Frame 30) is a Protein Coding gene. Diseases associated with C5orf30 include Rheumatoid Arthritis.

UniProtKB/Swiss-Prot for C5orf30 Gene

  • Probably plays a role in trafficking of proteins via its interaction with UNC119 and UNC119B cargo adapters: may help the release of UNC119 and UNC119B cargo or the recycling of UNC119 and UNC119B (PubMed:22085962). May play a role in ciliary membrane localization via its interaction with UNC119B and protein transport into photoreceptor cells (PubMed:22085962).

Additional gene information for C5orf30 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C5orf30 Gene

Genomics for C5orf30 Gene

GeneHancer (GH) Regulatory Elements for C5orf30 Gene

Promoters and enhancers for C5orf30 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
GH05I103257 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 550.8 +2.0 1998 5.6 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 YY1 ZNF213 ZNF143 KLF13 C5orf30 PPIP5K2 GC05P103272
GH05I103449 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 1.8 +193.0 193036 3.5 SMARCE1 MEIS2 STAT1 FOXA1 GATA3 ZNF766 JUND POLR2A CUX1 ENSG00000248203 GIN1 C5orf30 ENSG00000250567 PDZPH1P
GH05I103542 Enhancer 0.2 FANTOM5 6.3 +284.2 284195 0.1 LINC02115 C5orf30 NUDT12
GH05I103544 Enhancer 0.2 FANTOM5 3.5 +286.0 286034 0.4 C5orf30 LINC02115 NUDT12
GH05I103271 Enhancer 0.6 Ensembl 0.4 +13.2 13199 0.6 SCRT1 ZNF639 MAFG BACH1 EP300 MAFF ZNF316 GATA3 SCRT2 NFE2 GC05P103272 PPIP5K2 C5orf30
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C5orf30 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C5orf30 gene promoter:

Genomic Locations for C5orf30 Gene

Genomic Locations for C5orf30 Gene
chr5:103,258,702-103,278,660
(GRCh38/hg38)
Size:
19,959 bases
Orientation:
Plus strand
chr5:102,594,403-102,614,361
(GRCh37/hg19)

Genomic View for C5orf30 Gene

Genes around C5orf30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C5orf30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C5orf30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C5orf30 Gene

Proteins for C5orf30 Gene

  • Protein details for C5orf30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96GV9-CE030_HUMAN
    Recommended name:
    UNC119-binding protein C5orf30
    Protein Accession:
    Q96GV9

    Protein attributes for C5orf30 Gene

    Size:
    206 amino acids
    Molecular mass:
    23083 Da
    Quaternary structure:
    • Interacts with UNC119 and UNC119B; interaction preferentially takes place when UNC119 and UNC119B are unliganded with myristoylated proteins.

neXtProt entry for C5orf30 Gene

Post-translational modifications for C5orf30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C5orf30 Gene

No data available for DME Specific Peptides for C5orf30 Gene

Domains & Families for C5orf30 Gene

Gene Families for C5orf30 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C5orf30 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C5orf30 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96GV9

UniProtKB/Swiss-Prot:

CE030_HUMAN :
  • Belongs to the UNC119-binding protein family.
Family:
  • Belongs to the UNC119-binding protein family.
genes like me logo Genes that share domains with C5orf30: view

Function for C5orf30 Gene

Molecular function for C5orf30 Gene

UniProtKB/Swiss-Prot Function:
Probably plays a role in trafficking of proteins via its interaction with UNC119 and UNC119B cargo adapters: may help the release of UNC119 and UNC119B cargo or the recycling of UNC119 and UNC119B (PubMed:22085962). May play a role in ciliary membrane localization via its interaction with UNC119B and protein transport into photoreceptor cells (PubMed:22085962).
UniProtKB/Swiss-Prot Induction:
Up-regulated by hypoxia (PubMed:26316022). Down-regulated by TNF (PubMed:26316022).

Phenotypes From GWAS Catalog for C5orf30 Gene

Gene Ontology (GO) - Molecular Function for C5orf30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22085962
genes like me logo Genes that share ontologies with C5orf30: view
genes like me logo Genes that share phenotypes with C5orf30: view

Animal Models for C5orf30 Gene

MGI Knock Outs for C5orf30:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C5orf30 Gene

Localization for C5orf30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C5orf30 Gene

Cytoplasm. Cell projection, cilium. Note=Localizes to the transition zone and proximal cilium in addition to being found throughout the cytoplasm. {ECO:0000269 PubMed:22085962}.

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 C5orf30 gene
Compartment Confidence
nucleus 4
mitochondrion 2
cytosol 2

Gene Ontology (GO) - Cellular Components for C5orf30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 22085962
GO:0005929 cilium IEA --
GO:0035869 ciliary transition zone IDA 22085962
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with C5orf30: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C5orf30 Gene

Pathways & Interactions for C5orf30 Gene

SuperPathways for C5orf30 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C5orf30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0010764 negative regulation of fibroblast migration IEA --
GO:0015031 protein transport IEA --
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly ISS --
genes like me logo Genes that share ontologies with C5orf30: view

No data available for Pathways by source and SIGNOR curated interactions for C5orf30 Gene

Drugs & Compounds for C5orf30 Gene

No Compound Related Data Available

Transcripts for C5orf30 Gene

Unigene Clusters for C5orf30 Gene

Chromosome 5 open reading frame 30:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C5orf30 Gene

No ASD Table

Relevant External Links for C5orf30 Gene

GeneLoc Exon Structure for
C5orf30
ECgene alternative splicing isoforms for
C5orf30

Expression for C5orf30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C5orf30 Gene

Protein differential expression in normal tissues from HIPED for C5orf30 Gene

This gene is overexpressed in Lung (59.9) and Platelet (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C5orf30 Gene



Protein tissue co-expression partners for C5orf30 Gene

NURSA nuclear receptor signaling pathways regulating expression of C5orf30 Gene:

C5orf30

SOURCE GeneReport for Unigene cluster for C5orf30 Gene:

Hs.482976

mRNA Expression by UniProt/SwissProt for C5orf30 Gene:

Q96GV9-CE030_HUMAN
Tissue specificity: High expression in normal macrophages, monocytes, and cultured rheumatoid arthritis synovial fibroblasts (RASFs), with lower expression in B- and T-cells, and little to no expression in other tissues and cell lines (PubMed:26316022).

Evidence on tissue expression from TISSUES for C5orf30 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with C5orf30: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for C5orf30 Gene

Orthologs for C5orf30 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C5orf30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C5orf30 34
  • 100 (a)
OneToOne
C5H5orf30 33
  • 99.19 (n)
cow
(Bos Taurus)
Mammalia C7H5orf30 33 34
  • 92.07 (n)
oppossum
(Monodelphis domestica)
Mammalia C5orf30 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia D1Ertd622e 33 16 34
  • 89.16 (n)
rat
(Rattus norvegicus)
Mammalia RGD1562136 33
  • 87.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C5orf30 34
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C5orf30 34
  • 84 (a)
OneToOne
C3H5orf30 33
  • 77.61 (n)
chicken
(Gallus gallus)
Aves C5orf30 34
  • 89 (a)
OneToOne
C5ORF30 33
  • 79.61 (n)
lizard
(Anolis carolinensis)
Reptilia C5orf30 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c5orf30 33
  • 75.98 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.20270 33
zebrafish
(Danio rerio)
Actinopterygii C10H5orf30 34
  • 72 (a)
OneToOne
zgc:194281 33
  • 68.3 (n)
Species where no ortholog for C5orf30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for C5orf30 Gene

ENSEMBL:
Gene Tree for C5orf30 (if available)
TreeFam:
Gene Tree for C5orf30 (if available)

Paralogs for C5orf30 Gene

No data available for Paralogs for C5orf30 Gene

Variants for C5orf30 Gene

Sequence variations from dbSNP and Humsavar for C5orf30 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000005826 -- 103,257,929(+) A/G upstream_transcript_variant
rs1000098595 -- 103,258,309(+) T/C upstream_transcript_variant
rs1000243541 -- 103,263,681(+) A/C intron_variant
rs1000654048 -- 103,277,697(+) T/G 3_prime_UTR_variant
rs1000981437 -- 103,265,141(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C5orf30 Gene

Variant ID Type Subtype PubMed ID
esv3606059 CNV gain 21293372
esv3606062 CNV gain 21293372
esv3606063 CNV loss 21293372
esv3606064 CNV gain 21293372
nsv4936 CNV insertion 18451855
nsv507280 OTHER sequence alteration 20534489

Variation tolerance for C5orf30 Gene

Residual Variation Intolerance Score: 49.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C5orf30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C5orf30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C5orf30 Gene

Disorders for C5orf30 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C5orf30 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
rheumatoid arthritis
  • ra
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C5orf30

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 C5orf30: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C5orf30 Gene

Publications for C5orf30 Gene

  1. C5orf30 is a negative regulator of tissue damage in rheumatoid arthritis. (PMID: 26316022) Muthana M … Wilson AG (Proceedings of the National Academy of Sciences of the United States of America 2015) 2 3 4 58
  2. An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. (PMID: 22085962) Wright KJ … Jackson PK (Genes & development 2011) 2 3 4 58
  3. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. (PMID: 20453842) Stahl EA … Plenge RM (Nature genetics 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for C5orf30 Gene

Sources for C5orf30 Gene

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