Gene Gene information from NCBI Gene database.
Entrez ID 94134
Gene name Rho GTPase activating protein 12
Gene symbol ARHGAP12
Synonyms (NCBI Gene)
-
Chromosome 10
Chromosome location 10p11.22
Summary 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
miRNA miRNA information provided by mirtarbase database.
1037
miRTarBase ID miRNA Experiments Reference
MIRT016782 hsa-miR-335-5p Microarray 18185580
MIRT019545 hsa-miR-340-5p Sequencing 20371350
MIRT020135 hsa-miR-130b-3p Sequencing 20371350
MIRT021547 hsa-miR-142-3p Microarray 17612493
MIRT021898 hsa-miR-128-3p Microarray 17612493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0001891 Component Phagocytic cup IDA 26465210
GO:0002011 Process Morphogenesis of an epithelial sheet IMP 23201090
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610577 16348 ENSG00000165322
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWW6
Protein name Rho GTPase-activating protein 12 (Rho-type GTPase-activating protein 12)
Protein function GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14604 SH3_9 19 70 Variant SH3 domain Domain
PF16618 SH3-WW_linker 71 266 Disordered
PF00169 PH 464 575 PH domain Domain
PF00620 RhoGAP 670 821 RhoGAP domain Domain
Sequence
MKMADRSGKIIPGQVYIEVEYDYEYEAKDRKIVIKQGERYILVKKTNDDWWQVKPDENSK
AFYVPAQYVK
EVTRKALMPPVKQVAGLPNNSTKIMQSLHLQRSTENVNKLPELSSFGKPS
SSVQGTGLIRDANQNFGPSYNQGQTVNLSLDLTHNNGKFNNDSHSPKVSSQNRTRSFGHF
PGPEFLDVEKTSFSQEQSCDSAGEGSERIHQDSESGDELSSSSTEQIRATTPPNQGRPDS
PVYANLQELKISQSALPPLPGSPAIQ
INGEWETHKDSSGRCYYYNRGTQERTWKPPRWTR
DASISKGDFQNPGDQELLSSEENYYSTSYSQSDSQCGSPPRGWSEELDERGHTLYTSDYT
NEKWLKHVDDQGRQYYYSADGSRSEWELPKYNASSQQQREIIKSRSLDRRLQEPIVLTKW
RHSTIVLDTNDKESPTASKPCFPENESSPSSPKHQDTASSPKDQEKYGLLNVTKIAENGK
KVRKNWLSSWAVLQGSSLLFTKTQGSSTSWFGSNQSKPEFTVDLKGATIEMASKDKSSKK
NVFELKTRQGTELLIQSDNDTVINDWFKVLSSTIN
NQAVETDEGIEEEIPDSPGIEKHDK
EKEQKDPKKLRSFKVSSIDSSEQKKTKKNLKKFLTRRPTLQAVREKGYIKDQVFGSNLAN
LCQRENGTVPKFVKLCIEHVEEHGLDIDGIYRVSGNLAVIQKLRFAVNHDEKLDLNDSKW
EDIHVITGALKMFFRELPEPLFTFNHFNDFVNAIKQEPRQRVAAVKDLIRQLPKPNQDTM
QILFRHLRRVIENGEKNRMTYQSIAIVFGPTLLKPEKETGN
IAVHTVYQNQIVELILLEL
SSIFGR
Sequence length 846
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Rho GTPase cycle
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 30997486
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 40053455 Associate
★☆☆☆☆
Found in Text Mining only
Idiopathic Pulmonary Fibrosis Pulmonary Fibrosis BEFREE 30997486
★☆☆☆☆
Found in Text Mining only
Idiopathic Pulmonary Fibrosis Idiopathic pulmonary fibrosis Pubtator 30997486 Associate
★☆☆☆☆
Found in Text Mining only
Pulmonary Disease Chronic Obstructive Chronic obstructive pulmonary disease Pubtator 30997486 Associate
★☆☆☆☆
Found in Text Mining only