• Gene id: 342667

Gene Summary

• Gene Symbol: STAC2   Gene   UCSC   Ensembl
• Aliases: 24b2, 24b2/STAC2
• Gene name: SH3 and cysteine rich domain 2
• Alternate names: SH3 and cysteine-rich domain-containing protein 2, SRC homology 3 and cysteine-rich domain-containing protein 2,
• Gene location: 17q12 (39225944: 39210535)     Exons: 12     NC_000017.11
• Gene summary(Entrez): 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. [pro
• OMIM: 109770

Protein Summary

• Protein general information: Q6ZMT1  
  • Name: SH3 and cysteine rich domain containing protein 2 (24b2/STAC2) (Src homology 3 and cysteine rich domain containing protein 2)
  • Length: 411  
  • Mass: 45009
• Sequence:

  MTEMSEKENEPDDAATHSPPGTVSALQETKLQRFKRSLSLKTILRSKSLENFFLRSGSELKCPTEVLLTPPTPLP
  PPSPPPTASDRGLATPSPSPCPVPRPLAALKPVRLHSFQEHVFKRASPCELCHQLIVGNSKQGLRCKMCKVSVHL
  WCSEEISHQQCPGKTSTSFRRNFSSPLLVHEPPPVCATSKESPPTGDSGKVDPVYETLRYGTSLALMNRSSFSST
  SESPTRSLSERDELTEDGEGSIRSSEEGPGDSASPVFTAPAESEGPGPEEKSPGQQLPKATLRKDVGPMYSYVAL
  YKFLPQENNDLALQPGDRIMLVDDSNEDWWKGKIGDRVGFFPANFVQRVRPGENVWRCCQPFSGNKEQGYMSLKE
  NQICVGVGRSKDADGFIRVSSGKKRGLVPVDALTEI

• Structural information:
  • Protein Domains: (292..35-)
    (/note="SH3-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (354..41-)
    (/note="SH3-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR002219  IPR036028  IPR001452  IPR039688  IPR035509  
  • Prosite: PS50002 PS00479 PS50081
  • CDD: cd00029 cd11985
  • PDB: 6B26 6B27 6B28
  • PDBsum: 6B26 6B27 6B28
  • STRING: ENSP00000327509
• Other Databases: GeneCards:  STAC2  Malacards:  STAC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1901387	positive regulation of voltage-gated calcium channel activity	IBA	biological process
GO:1903078	positive regulation of protein localization to plasma membrane	IBA	biological process
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IBA	cellular component
GO:0003009	skeletal muscle contraction	IBA	biological process
GO:1901387	positive regulation of voltage-gated calcium channel activity	ISS	biological process
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	ISS	cellular component
GO:1903078	positive regulation of protein localization to plasma membrane	ISS	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1903078	positive regulation of protein localization to plasma membrane	IEA	biological process
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IEA	cellular component
GO:1901387	positive regulation of voltage-gated calcium channel activity	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq