Gene Gene information from NCBI Gene database.
Entrez ID 23365
Gene name Rho guanine nucleotide exchange factor 12
Gene symbol ARHGEF12
Synonyms (NCBI Gene)
LARGPRO2792
Chromosome 11
Chromosome location 11q23.3
Summary Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This pr
miRNA miRNA information provided by mirtarbase database.
488
miRTarBase ID miRNA Experiments Reference
MIRT030993 hsa-miR-21-5p Microarray 18591254
MIRT047997 hsa-miR-30c-5p CLASH 23622248
MIRT036542 hsa-miR-1225-3p CLASH 23622248
MIRT705580 hsa-miR-329-3p HITS-CLIP 23313552
MIRT705579 hsa-miR-362-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0001664 Function G protein-coupled receptor binding IBA
GO:0001664 Function G protein-coupled receptor binding IDA 15755723
GO:0001664 Function G protein-coupled receptor binding IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 11094164
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604763 14193 ENSG00000196914
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NZN5
Protein name Rho guanine nucleotide exchange factor 12 (Leukemia-associated RhoGEF)
Protein function May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and G
PDB 1TXD , 1X86 , 2OMJ , 2OS6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 73 145 PDZ domain Domain
PF09128 RGS-like 368 558 Regulator of G protein signalling-like domain Domain
PF00621 RhoGEF 791 975 RhoGEF domain Domain
PF17838 PH_16 1004 1132 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Isoform 2 is found in jejunum and testis.
Sequence
MSGTQSTITDRFPLKKPIRHGSILNRESPTDKKQKVERIASHDFDPTDSSSKKTKSSSEE
SRSEIYGLVQRCVIIQKDDNGFGLTVSGDNPVFVQSVKEDGAAMRAGVQTGDRIIKVNGT
LVTHSNHLEVVKLIKSGSYVALTVQ
GRPPGSPQIPLADSEVEPSVIGHMSPIMTSPHSPG
ASGNMERITSPVLMGEENNVVHNQKVEILRKMLQKEQERLQLLQEDYNRTPAQRLLKEIQ
EAKKHIPQLQEQLSKATGSAQDGAVVTPSRPLGDTLTVSEAETDPGDVLGRTDCSSGDAS
RPSSDNADSPKSGPKERIYLEENPEKSETIQDTDTQSLVGSPSTRIAPHIIGAEDDDFGT
EHEQINGQCSCFQSIELLKSRPAHLAVFLHHVVSQFDPATLLCYLYSDLYKHTNSKETRR
IFLEFHQFFLDRSAHLKVSVPDEMSADLEKRRPELIPEDLHRHYIQTMQERVHPEVQRHL
EDFRQKRSMGLTLAESELTKLDAERDKDRLTLEKERTCAEQIVAKIEEVLMTAQAVEEDK
SSTMQYVILMYMKHLGVK
VKEPRNLEHKRGRIGFLPKIKQSMKKDKEGEEKGKRRGFPSI
LGPPRRPSRHDNSAIGRAMELQKARHPKHLSTPSSVSPEPQDSAKLRQSGLANEGTDAGY
LPANSMSSVASGASFSQEGGKENDTGSKQVGETSAPGDTLDGTPRTLNTVFDFPPPPLDQ
VQEEECEVERVTEHGTPKPFRKFDSVAFGESQSEDEQFENDLETDPPNWQQLVSREVLLG
LKPCEIKRQEVINELFYTERAHVRTLKVLDQVFYQRVSREGILSPSELRKIFSNLEDILQ
LHIGLNEQMKAVRKRNETSVIDQIGEDLLTWFSGPGEEKLKHAAATFCSNQPFALEMIKS
RQKKDSRFQTFVQDAESNPLCRRLQLKDIIPTQMQRLTKYPLLLDNIAKYTEWPTEREKV
KKAADHCRQILNYVN
QAVKEAENKQRLEDYQRRLDTSSLKLSEYPNVEELRNLDLTKRKM
IHEGPLVWKVNRDKTIDLYTLLLEDILVLLQKQDDRLVLRCHSKILASTADSKHTFSPVI
KLSTVLVRQVATDNKALFVISMSDNGAQIYELVAQTVSEKTVWQDLICRMAA
SVKEQSTK
PIPLPQSTPGEGDNDEEDPSKLKEEQHGISVTGLQSPDRDLGLESTLISSKPQSHSLSTS
GKSEVRDLFVAERQFAKEQHTDGTLKEVGEDYQIAIPDSHLPVSEERWALDALRNLGLLK
QLLVQQLGLTEKSVQEDWQHFPRYRTASQGPQTDSVIQNSENIKAYHSGEGHMPFRTGTG
DIATCYSPRTSTESFAPRDSVGLAPQDSQASNILVMDHMIMTPEMPTMEPEGGLDDSGEH
FFDAREAHSDENPSEGDGAVNKEEKDVNLRISGNYLILDGYDPVQESSTDEEVASSLTLQ
PMTGIPAVESTHQQQHSPQNTHSDGAISPFTPEFLVQQRWGAMEYSCFEIQSPSSCADSQ
SQIMEYIHKIEADLEHLKKVEESYTILCQRLAGSALTDKHSDKS
Sequence length 1544
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Vascular smooth muscle contraction
Axon guidance
Platelet activation
C-type lectin receptor signaling pathway
Regulation of actin cytoskeleton
Pathogenic Escherichia coli infection
Yersinia infection
Tuberculosis
Human cytomegalovirus infection
Pathways in cancer
Proteoglycans in cancer
  NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events
Sema4D induced cell migration and growth-cone collapse
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Glaucoma Uncertain significance rs2498071485 RCV003225265
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 19734946
Cell Transformation Neoplastic Associate 30217930
Colorectal Neoplasms Associate 19734946, 26258642
Congenital Abnormalities Associate 33084842
Glaucoma Associate 25637523
Glaucoma Open Angle Associate 25637523, 38242088
Glioblastoma Associate 32693062
Glioma Associate 32693062
Heart Defects Congenital Associate 33084842
Heart Diseases Associate 26483157