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Aliases for C3orf58 Gene

Aliases for C3orf58 Gene

  • Chromosome 3 Open Reading Frame 58 2 3 5
  • Hypoxia And Akt Induced Stem Cell Factor 2 3
  • Hypoxia And AKT-Induced Stem Cell Factor 3 4
  • Golgi Protein Of 49 KDa 3 4
  • Deleted In Autism 1 2 3
  • GoPro49 3 4
  • DIA1 3 4
  • HASF 3 4
  • Deleted In Autism Protein 1 3
  • UPF0672 Protein C3orf58 3
  • Golgi Protein GoPro49 3

External Ids for C3orf58 Gene

Previous GeneCards Identifiers for C3orf58 Gene

  • GC03P145174
  • GC03P143690
  • GC03P141062

Summaries for C3orf58 Gene

GeneCards Summary for C3orf58 Gene

C3orf58 (Chromosome 3 Open Reading Frame 58) is a Protein Coding gene. Diseases associated with C3orf58 include Autism. An important paralog of this gene is CXorf36.

UniProtKB/Swiss-Prot for C3orf58 Gene

  • May play a role in cardiomyocyte proliferation through paracrine signaling and activation of the PPI3K-AKT-CDK7 signaling cascade.

Additional gene information for C3orf58 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 C3orf58 Gene

Genomics for C3orf58 Gene

GeneHancer (GH) Regulatory Elements for C3orf58 Gene

Promoters and enhancers for C3orf58 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I143970 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 564 +2.7 2662 8.1 HDGF PKNOX1 FOXA2 ARNT SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 C3orf58 PBX2P1 CHST2 RNA5SP144
GH03I144028 Enhancer 0.8 ENCODE 8.2 +57.3 57250 1.1 ZSCAN4 BACH1 EBF1 BMI1 BATF IRF4 RELA NFATC1 ATF7 ETV6 C3orf58 RNA5SP144
GH03I143978 Enhancer 0.4 ENCODE dbSUPER 9.5 +8.0 7993 2.1 C3orf58 CHST2 RNA5SP144
GH03I144018 Enhancer 0.3 ENCODE 9.7 +47.3 47337 0.9 FOS C3orf58 ST13P15 RNA5SP144
GH03I143924 Enhancer 0.4 ENCODE 6.9 -46.9 -46910 0.8 JUNB EBF1 RUNX3 C3orf58 GC03P143950 RPS17P10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C3orf58 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C3orf58 gene promoter:

Genomic Locations for C3orf58 Gene

Genomic Locations for C3orf58 Gene
76,922 bases
Plus strand

Genomic View for C3orf58 Gene

Genes around C3orf58 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C3orf58 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C3orf58 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C3orf58 Gene

Proteins for C3orf58 Gene

  • Protein details for C3orf58 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Deleted in autism protein 1
    Protein Accession:
    Secondary Accessions:
    • B2RCF2
    • B7Z1W3

    Protein attributes for C3orf58 Gene

    430 amino acids
    Molecular mass:
    49482 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C3orf58 Gene


neXtProt entry for C3orf58 Gene

Post-translational modifications for C3orf58 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C3orf58 Gene

No data available for DME Specific Peptides for C3orf58 Gene

Domains & Families for C3orf58 Gene

Gene Families for C3orf58 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for C3orf58 Gene


Suggested Antigen Peptide Sequences for C3orf58 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the DIA1 family.
  • Belongs to the DIA1 family.
genes like me logo Genes that share domains with C3orf58: view

Function for C3orf58 Gene

Molecular function for C3orf58 Gene

UniProtKB/Swiss-Prot Function:
May play a role in cardiomyocyte proliferation through paracrine signaling and activation of the PPI3K-AKT-CDK7 signaling cascade.

Phenotypes From GWAS Catalog for C3orf58 Gene

Phenotypes for C3orf58 Gene

genes like me logo Genes that share phenotypes with C3orf58: view

Animal Model Products

CRISPR Products

miRNA for C3orf58 Gene

miRTarBase miRNAs that target C3orf58

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C3orf58 Gene

Localization for C3orf58 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C3orf58 Gene

Cytoplasmic vesicle, COPI-coated vesicle. Golgi apparatus. Secreted.

Subcellular locations from

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 C3orf58 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for C3orf58 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IDA 18651652
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 23784961
GO:0005794 Golgi apparatus IEA --
GO:0030126 COPI vesicle coat IDA 18651652
genes like me logo Genes that share ontologies with C3orf58: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C3orf58 Gene

Pathways & Interactions for C3orf58 Gene

SuperPathways for C3orf58 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C3orf58 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014066 regulation of phosphatidylinositol 3-kinase signaling IDA 23784961
GO:0060038 cardiac muscle cell proliferation IDA 23784961
genes like me logo Genes that share ontologies with C3orf58: view

No data available for Pathways by source and SIGNOR curated interactions for C3orf58 Gene

Drugs & Compounds for C3orf58 Gene

No Compound Related Data Available

Transcripts for C3orf58 Gene

Unigene Clusters for C3orf58 Gene

Chromosome 3 open reading frame 58:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for C3orf58 Gene

No ASD Table

Relevant External Links for C3orf58 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C3orf58 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C3orf58 Gene

Protein differential expression in normal tissues from HIPED for C3orf58 Gene

This gene is overexpressed in Lung (35.8) and Peripheral blood mononuclear cells (13.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C3orf58 Gene

Protein tissue co-expression partners for C3orf58 Gene

NURSA nuclear receptor signaling pathways regulating expression of C3orf58 Gene:


SOURCE GeneReport for Unigene cluster for C3orf58 Gene:


Evidence on tissue expression from TISSUES for C3orf58 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with C3orf58: 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 C3orf58 Gene

Orthologs for C3orf58 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C3orf58 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia C3orf58 34
  • 100 (a)
C23H3orf58 33
  • 97.29 (n)
(Pan troglodytes)
Mammalia C3orf58 34
  • 100 (a)
C3H3orf58 33
  • 99.69 (n)
(Ornithorhynchus anatinus)
Mammalia C3orf58 34
  • 98 (a)
(Monodelphis domestica)
Mammalia C3orf58 34
  • 97 (a)
(Bos Taurus)
Mammalia C1H3orf58 33 34
  • 96.51 (n)
(Rattus norvegicus)
Mammalia RGD1309079 33
  • 94.57 (n)
(Mus musculus)
Mammalia 1190002N15Rik 33 16 34
  • 93.72 (n)
(Gallus gallus)
Aves C3orf58 34
  • 90 (a)
C3ORF58 33
  • 86.25 (n)
(Anolis carolinensis)
Reptilia C3orf58 34
  • 95 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c3orf58 33
  • 82.75 (n)
Str.7045 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16182 33
(Danio rerio)
Actinopterygii C24H3orf58 (2 of 2) 34
  • 82 (a)
C2H3orf58 (1 of 2) 34
  • 78 (a)
dia1b 33
  • 70.71 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 22 (a)
Species where no ortholog for C3orf58 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 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 C3orf58 Gene

Gene Tree for C3orf58 (if available)
Gene Tree for C3orf58 (if available)

Paralogs for C3orf58 Gene

Paralogs for C3orf58 Gene

(1) SIMAP similar genes for C3orf58 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with C3orf58: view

Variants for C3orf58 Gene

Sequence variations from dbSNP and Humsavar for C3orf58 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000282858 -- 143,981,515(+) T/C/G intron_variant
rs1000527954 -- 143,970,950(+) C/A upstream_transcript_variant
rs1000871116 -- 143,972,133(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000938516 -- 143,972,000(+) G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000942739 -- 143,972,246(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C3orf58 Gene

Variant ID Type Subtype PubMed ID
esv2321998 CNV deletion 18987734
esv2726004 CNV deletion 23290073
esv2726005 CNV deletion 23290073
esv2726007 CNV deletion 23290073
esv3423880 CNV insertion 20981092
esv3893777 CNV gain 25118596
nsv238021 CNV deletion 16902084
nsv518814 CNV gain 19592680
nsv591922 CNV loss 21841781

Variation tolerance for C3orf58 Gene

Residual Variation Intolerance Score: 20.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.12; 22.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C3orf58 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C3orf58 Gene

Disorders for C3orf58 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C3orf58 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards


  • Note=Genetic variations in C3orf58 may be associated with susceptibility to autism (PubMed:18621663). {ECO:0000269 PubMed:18621663}.

Additional Disease Information for C3orf58

genes like me logo Genes that share disorders with C3orf58: view

No data available for Genatlas for C3orf58 Gene

Publications for C3orf58 Gene

  1. C3orf58, a novel paracrine protein, stimulates cardiomyocyte cell-cycle progression through the PI3K-AKT-CDK7 pathway. (PMID: 23784961) Beigi F … Dzau VJ (Circulation research 2013) 2 3 4 58
  2. HASF is a stem cell paracrine factor that activates PKC epsilon mediated cytoprotection. (PMID: 24269490) Huang J … Dzau VJ (Journal of molecular and cellular cardiology 2014) 2 3 58
  3. Characterization of the deleted in autism 1 protein family: implications for studying cognitive disorders. (PMID: 21283809) Aziz A … Bishop NE (PloS one 2011) 2 3 58
  4. Expression of the novel Golgi protein GoPro49 is developmentally regulated during mesenchymal differentiation. (PMID: 18651652) Takatalo M … Rönnholm R (Developmental dynamics : an official publication of the American Association of Anatomists 2008) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for C3orf58 Gene

Sources for C3orf58 Gene

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