Aliases for STUM Gene

Aliases for STUM Gene

  • Stum, Mechanosensory Transduction Mediator Homolog 2 3 5
  • Protein Stum Homolog 3 4
  • C1orf95 3 4
  • Chromosome 1 Open Reading Frame 95 2
  • Stumble Homolog (Drosophila) 2
  • Stumble Homolog 3
  • DKFZp761P211 2
  • STUM 5

External Ids for STUM Gene

Previous HGNC Symbols for STUM Gene

  • C1orf95

Summaries for STUM Gene

GeneCards Summary for STUM Gene

STUM (Stum, Mechanosensory Transduction Mediator Homolog) is a Protein Coding gene.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STUM Gene

Genomics for STUM Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for STUM 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
GH01J226545 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE 257.5 -0.8 -821 5.4 NCOR1 ZNF600 ZNF580 ZNF223 ZNF10 ZIC2 ZBTB10 REST DEK TRIM22 STUM ACBD3-AS1 H3-3A ACBD3 LOC105373116 PARP1
GH01J226601 Enhancer 0.8 ENCODE CraniofacialAtlas 47.9 +55.0 55047 3.8 ZIC2 HNF4A GLIS1 BHLHE40 ZNF398 SP7 SP1 KLF1 HLF PKNOX1 STUM ITPKB ITPKB-AS1 COQ8A HSALNG0011093 lnc-PSEN2-4
GH01J226588 Enhancer 0.8 Ensembl ENCODE 34 +40.1 40054 4.4 ZNF600 ZIC2 NRF1 GLIS1 ZNF184 HLF EGR2 MAFK ZNF239 CEBPB STUM PARP1 HSALNG0011093 lnc-PSEN2-6 ITPKB
GH01J226402 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.1 -143.1 -143095 6.7 BCLAF1 SP1 ZNF207 NCOR1 ZNF600 MYC JUND ZNF580 ZNF592 ATF2 PARP1 HE855923 ACBD3-AS1 STUM MIXL1 ACBD3 PSEN2 LIN9
GH01J226813 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +269.3 269264 10 ZNF600 IKZF1 JUND ATF2 ZNF10 ZSCAN16 BRCA1 NFIC ZIC2 CEBPB HSALNG0011111-002 piR-52471-001 PSEN2 ITPKB STUM COQ8A HSALNG0011111-001 HSALNG0011109 ENSG00000288674
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Genomic Locations for STUM Gene

Latest Assembly
chr1:226,548,746-226,609,230
(GRCh38/hg38)
Size:
60,485 bases
Orientation:
Plus strand

Previous Assembly
chr1:226,736,465-226,796,931
(GRCh37/hg19 by Entrez Gene)
Size:
60,467 bases
Orientation:
Plus strand

chr1:226,736,501-226,796,915
(GRCh37/hg19 by Ensembl)
Size:
60,415 bases
Orientation:
Plus strand

Genomic View for STUM Gene

Genes around STUM on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for STUM Gene

Proteins for STUM Gene

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

    Protein Symbol:
    Q69YW2-STUM_HUMAN
    Recommended name:
    Protein stum homolog
    Protein Accession:
    Q69YW2
    Secondary Accessions:
    • A6NGL2

    Protein attributes for STUM Gene

    Size:
    141 amino acids
    Molecular mass:
    15007 Da
    Quaternary structure:
    No Data Available

neXtProt entry for STUM Gene

Post-translational modifications for STUM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STUM Gene

No data available for DME Specific Peptides for STUM Gene

Domains & Families for STUM Gene

Gene Families for STUM Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for STUM Gene

InterPro:

Suggested Antigen Peptide Sequences for STUM Gene

GenScript: Design optimal peptide antigens:
  • Uncharacterized membrane protein C1orf95 (CA095_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q69YW2

UniProtKB/Swiss-Prot:

STUM_HUMAN :
  • Belongs to the SPEC3 family. Stum subfamily.
Family:
  • Belongs to the SPEC3 family. Stum subfamily.
genes like me logo Genes that share domains with STUM: view

Function for STUM Gene

Phenotypes From GWAS Catalog for STUM Gene

Gene Ontology (GO) - Molecular Function for STUM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with STUM: view
genes like me logo Genes that share phenotypes with STUM: view

Inhibitory RNAs for research

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

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

Localization for STUM Gene

Subcellular locations from UniProtKB/Swiss-Prot for STUM Gene

Membrane. Multi-pass membrane protein.

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 STUM gene
Compartment Confidence
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for STUM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with STUM: view

Pathways & Interactions for STUM Gene

PathCards logo

SuperPathways for STUM Gene

No Data Available

Interacting Proteins for STUM Gene

Gene Ontology (GO) - Biological Process for STUM Gene

None

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

Drugs & Compounds for STUM Gene

No Compound Related Data Available

Transcripts for STUM Gene

mRNA/cDNA for STUM Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

No ASD Table

Relevant External Links for STUM Gene

GeneLoc Exon Structure for
STUM

Expression for STUM Gene

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

Evidence on tissue expression from TISSUES for STUM Gene

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

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for STUM Gene

Orthologs for STUM Gene

This gene was present in the common ancestor of chordates.

Orthologs for STUM Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C1orf95 30
  • 100 (a)
OneToOne
C1H1orf95 29
  • 99.76 (n)
Cow
(Bos Taurus)
Mammalia MGC151592 30
  • 99 (a)
OneToOne
C16H1orf95 29
  • 95 (n)
Dog
(Canis familiaris)
Mammalia C1orf95 30
  • 95 (a)
OneToOne
C7H1orf95 29
  • 93.29 (n)
Mouse
(Mus musculus)
Mammalia 6330403A02Rik 29 30
  • 91.49 (n)
OneToOne
Stum 16
Rat
(Rattus norvegicus)
Mammalia LOC689499 29
  • 90.78 (n)
Oppossum
(Monodelphis domestica)
Mammalia C1orf95 30
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C1ORF95 29 30
  • 84.31 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C1orf95 30
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100490899 29
  • 83.65 (n)
Zebrafish
(Danio rerio)
Actinopterygii C20H1orf95 30
  • 83 (a)
OneToOne
si:dkeyp-59a8.4 29
  • 81.41 (n)
Species where no ortholog for STUM 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)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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 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 STUM Gene

ENSEMBL:
Gene Tree for STUM (if available)
TreeFam:
Gene Tree for STUM (if available)
Alliance of Genome Resources:
Additional Orthologs for STUM

Paralogs for STUM Gene

No data available for Paralogs for STUM Gene

Variants for STUM Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for STUM Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv470779 CNV loss 18288195
nsv4755 CNV insertion 18451855
nsv477811 CNV novel sequence insertion 20440878
nsv522446 CNV loss 19592680
nsv832781 CNV gain 17160897

Variation tolerance for STUM Gene

Residual Variation Intolerance Score: 40.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.89; 18.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STUM Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
STUM
Leiden Open Variation Database (LOVD)
STUM

SNP Genotyping and Copy Number Assays for research

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 STUM Gene

Disorders for STUM Gene

Additional Disease Information for STUM

No disorders were found for STUM Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for STUM Gene

Publications for STUM Gene

  1. The stum gene is essential for mechanical sensing in proprioceptive neurons. (PMID: 24626929) Desai BS … Cook B (Science (New York, N.Y.) 2014) 2 3
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4

Products for STUM Gene

Sources for STUM Gene