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Aliases for C3orf30 Gene

Aliases for C3orf30 Gene

  • Chromosome 3 Open Reading Frame 30 2 3 5
  • Uncharacterized Protein C3orf30 3
  • TSCPA 3

External Ids for C3orf30 Gene

Previous GeneCards Identifiers for C3orf30 Gene

  • GC03P120348
  • GC03P118864
  • GC03P116240

Summaries for C3orf30 Gene

GeneCards Summary for C3orf30 Gene

C3orf30 (Chromosome 3 Open Reading Frame 30) is a Protein Coding gene. Diseases associated with C3orf30 include Spermatogenic Failure, X-Linked, 1 and Cryptorchidism, Unilateral Or Bilateral. An important paralog of this gene is ENSG00000251012.

Additional gene information for C3orf30 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C3orf30 Gene

Genomics for C3orf30 Gene

GeneHancer (GH) Regulatory Elements for C3orf30 Gene

Promoters and enhancers for C3orf30 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
GH03I119146 Promoter 0.6 EPDnew 550.8 -0.1 -110 0.1 CTCF ENSG00000251012 C3orf30 IGSF11 UPK1B GC03M119012
GH03I119147 Promoter 0.5 EPDnew 550.8 +0.0 1 0.1 IGSF11 ENSG00000251012 C3orf30
GH03I119119 Enhancer 0.3 ENCODE 9 -25.6 -25576 1.3 POU5F1 C3orf30 IGSF11 GC03M119012
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C3orf30 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C3orf30 gene promoter:

Genomic Locations for C3orf30 Gene

Genomic Locations for C3orf30 Gene
chr3:119,146,150-119,160,042
(GRCh38/hg38)
Size:
13,893 bases
Orientation:
Plus strand
chr3:118,864,997-118,878,889
(GRCh37/hg19)

Genomic View for C3orf30 Gene

Genes around C3orf30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C3orf30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C3orf30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C3orf30 Gene

Proteins for C3orf30 Gene

  • Protein details for C3orf30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96M34-CC030_HUMAN
    Recommended name:
    Uncharacterized protein C3orf30
    Protein Accession:
    Q96M34
    Secondary Accessions:
    • A1L4B7

    Protein attributes for C3orf30 Gene

    Size:
    536 amino acids
    Molecular mass:
    60162 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C3orf30 Gene

Post-translational modifications for C3orf30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C3orf30 Gene

No data available for DME Specific Peptides for C3orf30 Gene

Domains & Families for C3orf30 Gene

Gene Families for C3orf30 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C3orf30 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C3orf30 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C3orf30: view

No data available for UniProtKB/Swiss-Prot for C3orf30 Gene

Function for C3orf30 Gene

Phenotypes for C3orf30 Gene

GenomeRNAi human phenotypes for C3orf30:
genes like me logo Genes that share phenotypes with C3orf30: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C3orf30 Gene

Localization for C3orf30 Gene

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 C3orf30 gene
Compartment Confidence
nucleus 3
cytosol 2
golgi apparatus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for C3orf30 Gene

Pathways & Interactions for C3orf30 Gene

SuperPathways for C3orf30 Gene

No Data Available

Interacting Proteins for C3orf30 Gene

Gene Ontology (GO) - Biological Process for C3orf30 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C3orf30 Gene

Drugs & Compounds for C3orf30 Gene

No Compound Related Data Available

Transcripts for C3orf30 Gene

mRNA/cDNA for C3orf30 Gene

Unigene Clusters for C3orf30 Gene

Chromosome 3 open reading frame 30:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C3orf30 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b
SP1:
SP2: - -
SP3: -

Relevant External Links for C3orf30 Gene

GeneLoc Exon Structure for
C3orf30
ECgene alternative splicing isoforms for
C3orf30

Expression for C3orf30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C3orf30 Gene

mRNA differential expression in normal tissues according to GTEx for C3orf30 Gene

This gene is overexpressed in Testis (x52.6).

Protein differential expression in normal tissues from HIPED for C3orf30 Gene

This gene is overexpressed in Heart (57.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C3orf30 Gene



Protein tissue co-expression partners for C3orf30 Gene

NURSA nuclear receptor signaling pathways regulating expression of C3orf30 Gene:

C3orf30

SOURCE GeneReport for Unigene cluster for C3orf30 Gene:

Hs.730099
genes like me logo Genes that share expression patterns with C3orf30: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C3orf30 Gene

Orthologs for C3orf30 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C3orf30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C3H3orf30 33
  • 99.13 (n)
dog
(Canis familiaris)
Mammalia C33H3orf30 33
  • 67.04 (n)
C3orf30 34
  • 41 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C1H3orf30 33
  • 63.92 (n)
C3orf30 34
  • 47 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 4930435E12Rik 33 16 34
  • 62.35 (n)
rat
(Rattus norvegicus)
Mammalia RGD1306995 33
  • 61.26 (n)
chicken
(Gallus gallus)
Aves C3orf30 34
  • 24 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C3orf30 34
  • 80 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C5H3orf30 34
  • 37 (a)
OneToOne
Species where no ortholog for C3orf30 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C3orf30 Gene

ENSEMBL:
Gene Tree for C3orf30 (if available)
TreeFam:
Gene Tree for C3orf30 (if available)

Paralogs for C3orf30 Gene

Paralogs for C3orf30 Gene

genes like me logo Genes that share paralogs with C3orf30: view

Variants for C3orf30 Gene

Sequence variations from dbSNP and Humsavar for C3orf30 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000892004 -- 119,151,167(+) C/G intron_variant
rs1001376912 -- 119,145,615(+) T/C upstream_transcript_variant
rs1002524184 -- 119,144,689(+) AAAAAAAA/AAAAAAAAA upstream_transcript_variant
rs1002660393 -- 119,151,075(+) C/T intron_variant
rs1003312681 -- 119,147,908(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C3orf30 Gene

Variant ID Type Subtype PubMed ID
esv25249 CNV loss 19812545
esv3597552 CNV loss 21293372
esv3597553 CNV loss 21293372
nsv829692 CNV loss 17160897

Variation tolerance for C3orf30 Gene

Residual Variation Intolerance Score: 96.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.91; 89.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C3orf30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C3orf30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C3orf30 Gene

Disorders for C3orf30 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C3orf30 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spermatogenic failure, x-linked, 1
  • spgfx1
cryptorchidism, unilateral or bilateral
  • undescended testis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C3orf30

genes like me logo Genes that share disorders with C3orf30: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C3orf30 Gene

Publications for C3orf30 Gene

  1. Expression profile of a novel germ cell-specific gene, TSCPA, in mice and human. (PMID: 19821082) Yu Z … Cai Z (Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban 2009) 2 3 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for C3orf30 Gene

Sources for C3orf30 Gene

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