• Gene id: 94134

Gene Summary

• Gene Symbol: ARHGAP12   Gene   UCSC   Ensembl
• Gene name: Rho GTPase activating protein 12
• Alternate names: rho GTPase-activating protein 12, rho-type GTPase-activating protein 12,
• Gene location: 10p11.22 (31928875: 31805397)     Exons: 20     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively s

Protein Summary

• Protein general information: Q8IWW6  
  • Name: Rho GTPase activating protein 12 (Rho type GTPase activating protein 12)
  • Length: 846  
  • Mass: 96254
• Sequence:

  MKMADRSGKIIPGQVYIEVEYDYEYEAKDRKIVIKQGERYILVKKTNDDWWQVKPDENSKAFYVPAQYVKEVTRK
  ALMPPVKQVAGLPNNSTKIMQSLHLQRSTENVNKLPELSSFGKPSSSVQGTGLIRDANQNFGPSYNQGQTVNLSL
  DLTHNNGKFNNDSHSPKVSSQNRTRSFGHFPGPEFLDVEKTSFSQEQSCDSAGEGSERIHQDSESGDELSSSSTE
  QIRATTPPNQGRPDSPVYANLQELKISQSALPPLPGSPAIQINGEWETHKDSSGRCYYYNRGTQERTWKPPRWTR
  DASISKGDFQNPGDQELLSSEENYYSTSYSQSDSQCGSPPRGWSEELDERGHTLYTSDYTNEKWLKHVDDQGRQY
  YYSADGSRSEWELPKYNASSQQQREIIKSRSLDRRLQEPIVLTKWRHSTIVLDTNDKESPTASKPCFPENESSPS
  SPKHQDTASSPKDQEKYGLLNVTKIAENGKKVRKNWLSSWAVLQGSSLLFTKTQGSSTSWFGSNQSKPEFTVDLK
  GATIEMASKDKSSKKNVFELKTRQGTELLIQSDNDTVINDWFKVLSSTINNQAVETDEGIEEEIPDSPGIEKHDK
  EKEQKDPKKLRSFKVSSIDSSEQKKTKKNLKKFLTRRPTLQAVREKGYIKDQVFGSNLANLCQRENGTVPKFVKL
  CIEHVEEHGLDIDGIYRVSGNLAVIQKLRFAVNHDEKLDLNDSKWEDIHVITGALKMFFRELPEPLFTFNHFNDF
  VNAIKQEPRQRVAAVKDLIRQLPKPNQDTMQILFRHLRRVIENGEKNRMTYQSIAIVFGPTLLKPEKETGNIAVH
  TVYQNQIVELILLELSSIFGR

• Structural information:
  • Protein Domains: (12..7-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (265..29-)
    (/note="WW-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (358..39-)
    (/note="WW-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (46-)
  • Interpro: IPR035491  IPR011993  IPR001849  IPR008936  IPR000198   IPR036028  IPR001452  IPR001202  IPR036020  
  • Prosite: PS50003 PS50238 PS50002 PS50020
  • CDD: cd12070 cd00201
  • STRING: ENSP00000345808
• Other Databases: GeneCards:  ARHGAP12  Malacards:  ARHGAP12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0043087	regulation of GTPase activity	IBA	biological process
GO:0001891	phagocytic cup	IDA	cellular component
GO:0051058	negative regulation of small GTPase mediated signal transduction	IMP	biological process
GO:0007015	actin filament organization	IMP	biological process
GO:0006911	phagocytosis, engulfment	IMP	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0002011	morphogenesis of an epithelial sheet	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R