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Aliases for STAC3 Gene

Aliases for STAC3 Gene

  • SH3 And Cysteine Rich Domain 3 2 3 5
  • SH3 And Cysteine-Rich Domain-Containing Protein 3 3
  • NAM 3

External Ids for STAC3 Gene

Previous GeneCards Identifiers for STAC3 Gene

  • GC12M055924
  • GC12M055925
  • GC12M057637
  • GC12M054676

Summaries for STAC3 Gene

Entrez Gene Summary for STAC3 Gene

  • The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]

GeneCards Summary for STAC3 Gene

STAC3 (SH3 And Cysteine Rich Domain 3) is a Protein Coding gene. Diseases associated with STAC3 include Native American Myopathy and Pleomorphic Adenoma Carcinoma. GO annotations related to this gene include identical protein binding. An important paralog of this gene is STAC.

UniProtKB/Swiss-Prot for STAC3 Gene

  • In skeletal muscles contraction, may play a role in neuromuscular synaptic transmission.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STAC3 Gene

Genomics for STAC3 Gene

Regulatory Elements for STAC3 Gene

Enhancers for STAC3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G057242 1.8 FANTOM5 Ensembl ENCODE dbSUPER 0.4 +8.0 7999 2.0 PKNOX1 ATF1 SIN3A ZNF2 ZNF48 GLIS2 GATA2 ZNF143 KLF7 ZNF548 NEMP1 ARHGAP9 BAZ2A CTDSP2 NXPH4 RN7SL809P RNU6-343P STAT2 INHBE RBMS2
GH12G057248 1 Ensembl ENCODE 0.7 +2.1 2093 1.4 HDGF CTCF TAL1 ZBTB40 TCF12 POLR2A EGR1 NFYB RELB RNF2 ARHGAP9 NXPH4 INHBE MYO1A LRP1 STAT6 MARS ENSG00000224713 STAC3 GC12P057242
GH12G057245 1.2 ENCODE dbSUPER 0.4 +6.0 5961 0.2 PKNOX1 ZNF2 YY2 REST ZNF662 ZNF491 ZNF518A ZNF610 GLIS1 ZNF624 ENSG00000257740 ANKRD52 LOC283387 NAB2 TSPAN31 NXPH4 ZBTB39 NEMP1 ARHGEF25 B4GALNT1
GH12G057263 1.1 Ensembl ENCODE 0.4 -13.7 -13660 2.9 NFIB RAD21 ELK1 ZNF143 RELB IKZF2 ZNF654 ZNF362 REST GATAD2B ARHGAP9 ENSG00000270039 STAC3 PIR33837
GH12G057250 0.6 ENCODE 0.7 +0.1 80 1.5 CAVIN1 DDX20 PYGO2 PTTG1 GTF2A2 RELA ZNF592 IRF9 CREB3 ARHGAP9 STAC3 GC12P057242
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STAC3 on UCSC Golden Path with GeneCards custom track

Genomic Location for STAC3 Gene

Chromosome:
12
Start:
57,243,453 bp from pter
End:
57,251,193 bp from pter
Size:
7,741 bases
Orientation:
Minus strand

Genomic View for STAC3 Gene

Genes around STAC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STAC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STAC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STAC3 Gene

Proteins for STAC3 Gene

  • Protein details for STAC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MF2-STAC3_HUMAN
    Recommended name:
    SH3 and cysteine-rich domain-containing protein 3
    Protein Accession:
    Q96MF2
    Secondary Accessions:
    • B4DUK9
    • Q96HU5

    Protein attributes for STAC3 Gene

    Size:
    364 amino acids
    Molecular mass:
    41507 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for STAC3 Gene

    Alternative splice isoforms for STAC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STAC3 Gene

Post-translational modifications for STAC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for STAC3 Gene

Domains & Families for STAC3 Gene

Protein Domains for STAC3 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with STAC3: view

No data available for Gene Families and UniProtKB/Swiss-Prot for STAC3 Gene

Function for STAC3 Gene

Molecular function for STAC3 Gene

UniProtKB/Swiss-Prot Function:
In skeletal muscles contraction, may play a role in neuromuscular synaptic transmission.

Gene Ontology (GO) - Molecular Function for STAC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0042802 identical protein binding IPI 16189514
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with STAC3: view
genes like me logo Genes that share phenotypes with STAC3: view

Human Phenotype Ontology for STAC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STAC3 Gene

MGI Knock Outs for STAC3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for STAC3 Gene

Localization for STAC3 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 STAC3 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2
golgi apparatus 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for STAC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with STAC3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for STAC3 Gene

Pathways & Interactions for STAC3 Gene

SuperPathways for STAC3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for STAC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IMP 23736855
GO:0007274 neuromuscular synaptic transmission IMP 23736855
GO:0035556 intracellular signal transduction IEA --
GO:0048741 skeletal muscle fiber development IEA --
genes like me logo Genes that share ontologies with STAC3: view

No data available for Pathways by source and SIGNOR curated interactions for STAC3 Gene

Drugs & Compounds for STAC3 Gene

(4) Additional Compounds for STAC3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Hexadecanoyl-3-(11-eicosenoyl)-sn-glycerol
  • 1-Palmitoyl-3-eicosenoyl-sn-glycerol
  • DAG(16:0/0:0/20:1)
  • DAG(16:0/0:0/20:1n9)
  • DAG(16:0/0:0/20:1w9)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with STAC3: view

Transcripts for STAC3 Gene

Unigene Clusters for STAC3 Gene

SH3 and cysteine rich domain 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for STAC3 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1:
SP2: - - - - -
SP3: -
SP4:

Relevant External Links for STAC3 Gene

GeneLoc Exon Structure for
STAC3
ECgene alternative splicing isoforms for
STAC3

Expression for STAC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for STAC3 Gene

mRNA differential expression in normal tissues according to GTEx for STAC3 Gene

This gene is overexpressed in Muscle - Skeletal (x47.2).

NURSA nuclear receptor signaling pathways regulating expression of STAC3 Gene:

STAC3

SOURCE GeneReport for Unigene cluster for STAC3 Gene:

Hs.417595

Evidence on tissue expression from TISSUES for STAC3 Gene

  • Muscle(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STAC3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with STAC3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for STAC3 Gene

Orthologs for STAC3 Gene

This gene was present in the common ancestor of animals.

Orthologs for STAC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STAC3 34 35
  • 99.82 (n)
dog
(Canis familiaris)
Mammalia STAC3 34 35
  • 93.76 (n)
cow
(Bos Taurus)
Mammalia STAC3 34 35
  • 93.74 (n)
rat
(Rattus norvegicus)
Mammalia Stac3 34
  • 90.65 (n)
mouse
(Mus musculus)
Mammalia Stac3 34 16 35
  • 90.34 (n)
lizard
(Anolis carolinensis)
Reptilia STAC3 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stac3 34
  • 73.71 (n)
zebrafish
(Danio rerio)
Actinopterygii stac3 34 35
  • 66.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG43729 35
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 20 (a)
OneToMany
Species where no ortholog for STAC3 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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 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 STAC3 Gene

ENSEMBL:
Gene Tree for STAC3 (if available)
TreeFam:
Gene Tree for STAC3 (if available)

Paralogs for STAC3 Gene

Paralogs for STAC3 Gene

(3) SIMAP similar genes for STAC3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with STAC3: view

Variants for STAC3 Gene

Sequence variations from dbSNP and Humsavar for STAC3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs140291094 Pathogenic, Native American myopathy (NAM) [MIM:255995] 57,244,322(+) GCCAC(C/G)ATTCT nc-transcript-variant, reference, missense
rs139002404 Likely benign 57,249,637(+) GTCAT(C/T)CTGCA intron-variant, nc-transcript-variant, utr-variant-5-prime
rs146313451 Likely benign 57,248,783(+) ACAGC(A/G)AAGCC intron-variant, nc-transcript-variant, reference, missense
rs148939626 Likely benign 57,249,117(+) TTATC(A/G)TTGAC intron-variant, nc-transcript-variant, reference, synonymous-codon
rs61747067 Likely benign 57,243,884(+) CCGCC(C/G)GCTTC nc-transcript-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for STAC3 Gene

Variant ID Type Subtype PubMed ID
dgv96n21 CNV loss 19592680
nsv482992 CNV gain+loss 15286789
nsv519293 CNV loss 19592680
nsv952189 CNV deletion 24416366

Variation tolerance for STAC3 Gene

Residual Variation Intolerance Score: 44.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STAC3 Gene

Human Gene Mutation Database (HGMD)
STAC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STAC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STAC3 Gene

Disorders for STAC3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for STAC3 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
native american myopathy
  • congenital myopathy - cleft palate - malignant hyperthermia
pleomorphic adenoma carcinoma
  • carcinoma ex pleomorphic adenoma
kleine-levin hibernation syndrome
  • kleine-levin syndrome
recurrent hypersomnia
  • primary recurrent hypersomnia
- elite association - COSMIC cancer census association via MalaCards
Search STAC3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STAC3_HUMAN
  • Native American myopathy (NAM) [MIM:255995]: A disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. {ECO:0000269 PubMed:23736855}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for STAC3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STAC3
genes like me logo Genes that share disorders with STAC3: view

No data available for Genatlas for STAC3 Gene

Publications for STAC3 Gene

  1. Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractility. (PMID: 23818578) Nelson B.R. … Olson E.N. (Proc. Natl. Acad. Sci. U.S.A. 2013) 2 3 64
  2. Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. (PMID: 23736855) Horstick E.J. … Kuwada J.Y. (Nat Commun 2013) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for STAC3 Gene

Sources for STAC3 Gene

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