• Gene id: 9905

Gene Summary

• Gene Symbol: SGSM2   Gene   UCSC   Ensembl
• Aliases: RUTBC1
• Gene name: small G protein signaling modulator 2
• Alternate names: small G protein signaling modulator 2, RUN and TBC1 domain containing 1, small G protein signaling modulator 2 protein,
• Gene location: 17p13.3 (2336491: 2381073)     Exons: 28     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided b
• OMIM: 611418

Protein Summary

• Protein general information: O43147  
  • Name: Small G protein signaling modulator 2 (RUN and TBC1 domain containing protein 1)
  • Length: 1006  
  • Mass: 113285
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MGSAEDAVKEKLLWNVKKEVKQIMEEAVTRKFVHEDSSHIIALCGAVEACLLHQLRRRAAGFLRSDKMAALFTKV
  GKTCPVAGEICHKVQELQQQAEGRKPSGVSQEALRRQGSASGKAPALSPQALKHVWVRTALIEKVLDKVVQYLAE
  NCSKYYEKEALLADPVFGPILASLLVGPCALEYTKLKTADHYWTDPSADELVQRHRIRGPPTRQDSPAKRPALGI
  RKRHSSGSASEDRLAACARECVESLHQNSRTRLLYGKNHVLVQPKEDMEAVPGYLSLHQSAESLTLKWTPNQLMN
  GTLGDSELEKSVYWDYALVVPFSQVVCIHCHQQKSGGTLVLVSQDGIQRPPLHFPQGGHLLSFLSCLENGLLPRG
  QLEPPLWTQQGKGKVFPKLRKRSSIRSVDMEEMGTGRATDYVFRIIYPGHRHEHNAGDMIEMQGFGPSLPAWHLE
  PLCSQGSSCLSCSSSSSPHATPSHCSCIPDRLPLRLLCESMKRQIVSRAFYGWLAHCRHLSTVRTHLSALVHHSV
  IPPDRPPGASAGLTKDVWSKYQKDKKNYKELELLRQVYYGGIEHEIRKDVWPFLLGHYKFGMSKKEMEQVDAVVA
  ARYQQVLAEWKACEVVVRQREREAHPATRTKFSSGSSIDSHVQRLIHRDSTISNDVFISVDDLEPPEPQDPEDSR
  PKPEQEAGPGTPGTAVVEQQHSVEFDSPDSGLPSSRNYSVASGIQSSLDEGQSVGFEEEDGGGEEGSSGPGPAAH
  TLREPQDPSQEKPQAGELEAGEELAAVCAAAYTIELLDTVALNLHRIDKDVQRCDRNYWYFTPPNLERLRDVMCS
  YVWEHLDVGYVQGMCDLLAPLLVTLDNDQLAYSCFSHLMKRMSQNFPNGGAMDTHFANMRSLIQILDSELFELMH
  QNGDYTHFYFCYRWFLLDFKRELLYEDVFAVWEVIWAARHISSEHFVLFIALALVEAYREIIRDNNMDFTDIIKF
  FNERAEHHDAQEILRIARDLVHKVQMLIENK

• Structural information:
  • Protein Domains: (34..19-)
    (/note="RUN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00178-)
    (566..93-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR000195  IPR035969  IPR004012  IPR037213  IPR037745   IPR021935  
  • Prosite: PS50826 PS50086
  • CDD: cd15784
  • STRING: ENSP00000268989
• Other Databases: GeneCards:  SGSM2  Malacards:  SGSM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0042470	melanosome	IDA	cellular component
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0005096	GTPase activator activity	IMP	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0042470	melanosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IMP	molecular function
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0034499	late endosome to Golgi transport	IMP	biological process
GO:0017137	Rab GTPase binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq