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This gene encodes a protein containing an SH3 domain and a zinc finger domain. The encoded protein has been shown to regulate calcium channel inactivation in a human cell line. Reduced expression of this gene has been observed in human heart failure. [provided by RefSeq, May 2017]
STAC2 (SH3 And Cysteine Rich Domain 2) is a Protein Coding gene. Diseases associated with STAC2 include Myopathy, Congenital, Bailey-Bloch and Hypokalemic Periodic Paralysis, Type 1. An important paralog of this gene is STAC.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0031234 | extrinsic component of cytoplasmic side of plasma membrane | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003009 | skeletal muscle contraction | IBA | 21873635 |
GO:0035556 | intracellular signal transduction | IEA | -- |
GO:1901387 | positive regulation of voltage-gated calcium channel activity | IBA,ISS | -- |
GO:1903078 | positive regulation of protein localization to plasma membrane | IBA,ISS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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Diglycerides Group B |
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Diglycerides Group C |
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Diglycerides Group D |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | STAC2 30 31 |
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OneToOne | |
Dog (Canis familiaris) |
Mammalia | STAC2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | STAC2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Stac2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Stac2 30 |
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Oppossum (Monodelphis domestica) |
Mammalia | STAC2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | STAC2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | STAC2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | stac2 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | CG43729 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
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OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs201455475 | Uncertain Significance: Severe Myopia | 39,218,056(-) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
rs761169200 | Uncertain Significance: not provided | 39,215,212(-) | TCCACCTTC/T | FRAMESHIFT_VARIANT | |
rs863223351 | Likely Pathogenic: Childhood-Onset Schizophrenia | 39,218,007(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
rs952472797 | Uncertain Significance: not provided | 39,218,025(-) | G/C | MISSENSE_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1146669 | OTHER | inversion | 26484159 |
nsv833441 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
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myopathy, congenital, bailey-bloch |
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hypokalemic periodic paralysis, type 1 |
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leukoencephalopathy with vanishing white matter |
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giant cell glioblastoma |
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malignant hyperthermia |
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