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Aliases for STPG3 Gene

Aliases for STPG3 Gene

  • Sperm-Tail PG-Rich Repeat Containing 3 2 3 5
  • Sperm-Tail PG-Rich Repeat-Containing Protein 3 3 4
  • C9orf173 3 4
  • Chromosome 9 Open Reading Frame 173 2
  • Uncharacterized Protein C9orf173 3
  • Protein STPG3 3

External Ids for STPG3 Gene

Previous HGNC Symbols for STPG3 Gene

  • C9orf173

Summaries for STPG3 Gene

GeneCards Summary for STPG3 Gene

STPG3 (Sperm-Tail PG-Rich Repeat Containing 3) is a Protein Coding gene. Diseases associated with STPG3 include Chromosome 16P13.3 Deletion Syndrome, Proximal.

Additional gene information for STPG3 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 STPG3 Gene

Genomics for STPG3 Gene

GeneHancer (GH) Regulatory Elements for STPG3 Gene

Promoters and enhancers for STPG3 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
GH09I137251 Promoter 0.5 EPDnew 550.8 +0.4 434 0.1 STPG3 FAM166A STPG3-AS1
GH09I136725 Promoter/Enhancer 1.6 Ensembl ENCODE 9.7 -523.4 -523392 4.1 CLOCK MLX DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 NFYC SSRP1 SNHG7 ENSG00000281808 GC09M136753 GC09M136755 GC09M136756 SNORA17A SNORA17B DPH7 EHMT1 ANAPC2
GH09I137267 Enhancer 1.4 Ensembl ENCODE dbSUPER 6.3 +18.0 18020 2.3 HDGF PKNOX1 CLOCK ARNT SIN3A ZNF48 TCF12 POLR2B E2F8 RXRA NELFB EHMT1 ANAPC2 SNHG7 SEC16A SDCCAG3 LOC651337 DPH7 STPG3 TOR4A
GH09I137327 Enhancer 0.7 ENCODE 9.9 +77.2 77204 0.2 KLF1 ARNT KLF17 ZNF324 ZFHX2 EGR1 ATF7 FOS ZBTB20 EGR2 FAM166A STPG3 CCDC183-AS1 GC09M137332 NRARP EXD3
GH09I137417 Enhancer 0.9 FANTOM5 Ensembl dbSUPER 2.9 +166.9 166861 1 ZNF687 POLR2A RB1 ELF1 MYC FAM166A STPG3 ABCA2 LCNL1 EXD3 GC09M137332
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around STPG3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for STPG3 Gene

Genomic Locations for STPG3 Gene
chr9:137,250,840-137,253,483
(GRCh38/hg38)
Size:
2,644 bases
Orientation:
Plus strand
chr9:140,145,713-140,147,934
(GRCh37/hg19)

Genomic View for STPG3 Gene

Genes around STPG3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STPG3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STPG3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STPG3 Gene

Proteins for STPG3 Gene

  • Protein details for STPG3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N7X2-STPG3_HUMAN
    Recommended name:
    Protein STPG3
    Protein Accession:
    Q8N7X2
    Secondary Accessions:
    • A2RU24
    • B7ZM72
    • B7ZM76
    • Q8NEA3

    Protein attributes for STPG3 Gene

    Size:
    389 amino acids
    Molecular mass:
    42877 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for STPG3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STPG3 Gene

Post-translational modifications for STPG3 Gene

No Post-translational modifications

No data available for DME Specific Peptides for STPG3 Gene

Domains & Families for STPG3 Gene

Gene Families for STPG3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for STPG3 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with STPG3: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for STPG3 Gene

Function for STPG3 Gene

genes like me logo Genes that share phenotypes with STPG3: 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 , miRNA , Transcription Factor Targets and HOMER Transcription for STPG3 Gene

Localization for STPG3 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 STPG3 gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for STPG3 Gene

Pathways & Interactions for STPG3 Gene

SuperPathways for STPG3 Gene

No Data Available

Interacting Proteins for STPG3 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000391218%0d%0a9606.ENSP00000353826%0d%0a
Selected Interacting proteins: Q8N7X2-STPG3_HUMAN ENSP00000391218 for STPG3 Gene via IID STRING

Gene Ontology (GO) - Biological Process for STPG3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for STPG3 Gene

Drugs & Compounds for STPG3 Gene

No Compound Related Data Available

Transcripts for STPG3 Gene

mRNA/cDNA for STPG3 Gene

(6) REFSEQ mRNAs :
(1) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for STPG3 Gene

No ASD Table

Relevant External Links for STPG3 Gene

GeneLoc Exon Structure for
STPG3
ECgene alternative splicing isoforms for
STPG3

Expression for STPG3 Gene

NURSA nuclear receptor signaling pathways regulating expression of STPG3 Gene:

STPG3
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for STPG3 Gene

Orthologs for STPG3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for STPG3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf173 33
  • 99.03 (n)
C9orf173 34
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 4933433C11Rik 33 34
  • 74.75 (n)
Stpg3 16
rat
(Rattus norvegicus)
Mammalia LOC499746 33
  • 73.93 (n)
dog
(Canis familiaris)
Mammalia C9orf173 34
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C9orf173 34
  • 40 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 18 (a)
OneToOne
Species where no ortholog for STPG3 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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 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)
  • zebrafish (Danio rerio)

Evolution for STPG3 Gene

ENSEMBL:
Gene Tree for STPG3 (if available)
TreeFam:
Gene Tree for STPG3 (if available)

Paralogs for STPG3 Gene

No data available for Paralogs for STPG3 Gene

Variants for STPG3 Gene

Sequence variations from dbSNP and Humsavar for STPG3 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000357207 -- 137,250,582(+) A/G upstream_transcript_variant
rs1000801398 -- 137,249,230(+) A/G upstream_transcript_variant
rs1000942528 -- 137,253,731(+) C/G downstream_transcript_variant
rs1000952112 -- 137,253,537(+) G/C downstream_transcript_variant
rs1001148781 -- 137,249,393(+) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for STPG3 Gene

Variant ID Type Subtype PubMed ID
dgv13009n54 CNV loss 21841781
dgv13011n54 CNV loss 21841781
esv2422220 CNV deletion 17116639
nsv1161918 CNV duplication 26073780
nsv524322 CNV loss 19592680
nsv951207 CNV deletion 24416366

Variation tolerance for STPG3 Gene

Residual Variation Intolerance Score: 84.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.34; 63.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STPG3 Gene

Human Gene Mutation Database (HGMD)
STPG3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STPG3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STPG3 Gene

Disorders for STPG3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for STPG3 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
chromosome 16p13.3 deletion syndrome, proximal
  • rubinstein-taybi deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search STPG3 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with STPG3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for STPG3 Gene

Publications for STPG3 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 4 58
  5. 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

Products for STPG3 Gene

Sources for STPG3 Gene

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