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] See more...

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 4
  • MGC2793 2
  • MYPBB 3
  • STAC3 5
  • 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 Myopathy, Congenital, Bailey-Bloch and Stac3 Disorder. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is STAC.

UniProtKB/Swiss-Prot Summary for STAC3 Gene

  • Required for normal excitation-contraction coupling in skeletal muscle and for normal muscle contraction in response to membrane depolarization. Required for normal Ca(2+) release from the sarcplasmic reticulum, which ultimately leads to muscle contraction. Probably functions via its effects on muscle calcium channels (PubMed:23736855, PubMed:29078335). Increases CACNA1S channel activity, in addition to its role in enhancing the expression of CACNA1S at the cell membrane. Has a redundant role in promoting the expression of the calcium channel CACNA1S at the cell membrane (By similarity). Slows down the inactivation rate of the calcium channel CACNA1C (PubMed:29078335).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STAC3 Gene

Genomics for STAC3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for STAC3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STAC3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STAC3

Top Transcription factor binding sites by QIAGEN in the STAC3 gene promoter:
  • Elk-1
  • Evi-1
  • HOXA3
  • HOXA5
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Spz1

Genomic Locations for STAC3 Gene

Genomic Locations for STAC3 Gene
chr12:57,243,453-57,251,188
(GRCh38/hg38)
Size:
7,736 bases
Orientation:
Minus strand
chr12:57,637,236-57,644,976
(GRCh37/hg19)
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:
    • Interacts (via SH3 domains) with the calcium channels CACNA1S and CACNA1C (PubMed:29078335). Component of a calcium channel complex with CACNA1S and CACNB1. Component of a calcium channel complex with CACNA1C and CACNB1 (By similarity).

    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

Gene Families for STAC3 Gene

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

Protein Domains for STAC3 Gene

InterPro:
Blocks:
  • SH3 domain signature
  • Variant SH3
ProtoNet:

Suggested Antigen Peptide Sequences for STAC3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57601, highly similar to SH3 and cysteine-rich domain-containing protein 3 (B4DUK9_HUMAN)
  • SH3 and cysteine-rich domain-containing protein 3 (STAC3_HUMAN)
genes like me logo Genes that share domains with STAC3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for STAC3 Gene

Function for STAC3 Gene

Molecular function for STAC3 Gene

UniProtKB/Swiss-Prot Function:
Required for normal excitation-contraction coupling in skeletal muscle and for normal muscle contraction in response to membrane depolarization. Required for normal Ca(2+) release from the sarcplasmic reticulum, which ultimately leads to muscle contraction. Probably functions via its effects on muscle calcium channels (PubMed:23736855, PubMed:29078335). Increases CACNA1S channel activity, in addition to its role in enhancing the expression of CACNA1S at the cell membrane. Has a redundant role in promoting the expression of the calcium channel CACNA1S at the cell membrane (By similarity). Slows down the inactivation rate of the calcium channel CACNA1C (PubMed:29078335).

Phenotypes From GWAS Catalog for STAC3 Gene

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:
  • Stac3 Stac3<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STAC3

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

Localization for STAC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STAC3 Gene

Cytoplasm. Cell membrane, sarcolemma. Peripheral membrane protein. Cytoplasmic side. Cell membrane, sarcolemma, T-tubule. Note=Co-localizes with CACNA1S and CACNA1C on T-tubules. {ECO:0000250 UniProtKB:Q8BZ71}.

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
plasma membrane 4
golgi apparatus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STAC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IEA --
GO:0005891 voltage-gated calcium channel complex ISS --
genes like me logo Genes that share ontologies with STAC3: view

Pathways & Interactions for STAC3 Gene

PathCards logo

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 IBA,IMP 23736855
GO:0007274 neuromuscular synaptic transmission IMP 23736855
GO:0035556 intracellular signal transduction IEA --
GO:0048741 skeletal muscle fiber development IEA --
GO:1901387 positive regulation of voltage-gated calcium channel activity IBA,ISS --
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
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (5Z,8Z,11Z)-icosa-5,8,11,14-tetraenoic acid
  • DG(15:0/0:0/20:4n6)
  • Diacylglycerol(15:0/0:0/20:4)
  • DG(35:4)
  • DAG(15:0/0:0/20:4)
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with STAC3: view

Transcripts for STAC3 Gene

mRNA/cDNA for STAC3 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STAC3

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

Expression for STAC3 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STAC3

SOURCE GeneReport for Unigene cluster for STAC3 Gene:

Hs.417595

Evidence on tissue expression from TISSUES for STAC3 Gene

  • Muscle(4.9)
  • Nervous system(2.5)
  • Skin(2.4)
  • Blood(2.2)
  • Intestine(2.2)
  • Liver(2.1)
  • Heart(2)
  • Kidney(2)

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
Regions:
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

No data available for 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 30 31
  • 99.82 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia STAC3 30 31
  • 93.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia STAC3 30 31
  • 93.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Stac3 30
  • 90.65 (n)
Mouse
(Mus musculus)
Mammalia Stac3 30 17 31
  • 90.34 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia STAC3 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia stac3 30
  • 73.71 (n)
Zebrafish
(Danio rerio)
Actinopterygii stac3 30 31
  • 66.98 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG43729 31
  • 6 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 20 (a)
OneToMany
Species where no ortholog for STAC3 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)
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for STAC3: view image

Paralogs for STAC3 Gene

Paralogs for STAC3 Gene

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

  • STAC3_HUMAN
  • B4DUK9_HUMAN
  • G3V2L9_HUMAN
  • G3V5D4_HUMAN
genes like me logo Genes that share paralogs with STAC3: view

Variants for STAC3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STAC3 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
639920 Uncertain Significance: Bailey-Bloch congenital myopathy 57,243,911(-) C/G SPLICE_ACCEPTOR_VARIANT
644215 Uncertain Significance: Bailey-Bloch congenital myopathy 57,249,205(-) C/A MISSENSE_VARIANT,INTRON_VARIANT
644689 Uncertain Significance: Bailey-Bloch congenital myopathy 57,249,611(-) G/T MISSENSE_VARIANT,INTRON_VARIANT
646124 Uncertain Significance: Bailey-Bloch congenital myopathy 57,246,833(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
646361 Uncertain Significance: Bailey-Bloch congenital myopathy 57,248,158(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for STAC3 Gene

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)

Additional Variant Information for STAC3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for STAC3 Gene

MalaCards: The human disease database

(13) MalaCards diseases for STAC3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopathy, congenital, bailey-bloch
  • mypbb
stac3 disorder
  • myopathy, congenital, bailey-bloch
carey-fineman-ziter syndrome
  • cfzs
malignant hyperthermia
  • mhs
myopathy, congenital
  • batten-turner congenital myopathy
- 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
  • Myopathy, congenital, Bailey-Bloch (MYPBB) [MIM:255995]: An autosomal recessive 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, ECO:0000269 PubMed:28777491, ECO:0000269 PubMed:29078335}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with STAC3: view

No data available for Genatlas for STAC3 Gene

Publications for STAC3 Gene

  1. Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. (PMID: 28777491) Telegrafi A … Sobreira NLM (American journal of medical genetics. Part A 2017) 3 4
  2. Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. (PMID: 23736855) Horstick EJ … Kuwada JY (Nature communications 2013) 3 4
  3. Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractility. (PMID: 23818578) Nelson BR … Olson EN (Proceedings of the National Academy of Sciences of the United States of America 2013) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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) 3 4

Products for STAC3 Gene

Sources for STAC3 Gene