Gene Gene information from NCBI Gene database.
Entrez ID 9639
Gene name Rho guanine nucleotide exchange factor 10
Gene symbol ARHGEF10
Synonyms (NCBI Gene)
GEF10SNCV
Chromosome 8
Chromosome location 8p23.3
Summary This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Muta
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs28940281 C>T Pathogenic Coding sequence variant, missense variant
rs587777712 G>A,C Likely-pathogenic, uncertain-significance Missense variant, coding sequence variant
rs1585296361 G>T Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
230
miRTarBase ID miRNA Experiments Reference
MIRT021449 hsa-miR-9-5p Microarray 17612493
MIRT026698 hsa-miR-192-5p Microarray 19074876
MIRT795223 hsa-miR-101 CLIP-seq
MIRT795224 hsa-miR-1184 CLIP-seq
MIRT795225 hsa-miR-1205 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 16896804, 19635168, 20042462
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity TAS
GO:0005515 Function Protein binding IPI 19635168
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608136 14103 ENSG00000104728
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15013
Protein name Rho guanine nucleotide exchange factor 10
Protein function May play a role in developmental myelination of peripheral nerves.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00621 RhoGEF 425 606 RhoGEF domain Domain
PF19057 PH_19 629 778 Domain
PF19056 WD40_2 886 1368 Repeat
Sequence
MRPPGFLSRAPSLNRAERGIWSCSMDQREPLPPAPAENEMKYDTNNNEEEEGEQFDFDSG
DEIPEADRQAPSAPETGGAGASEAPAPTGGEDGAGAETTPVAEPTKLVLPMKVNPYSVID
ITPFQEDQPPTPVPSAEEENVGLHVPCGYLVPVPCGYAVPSNLPLLLPAYSSPVIICATS
LDEEAETPEVTEDRQPNSLSSEEPPTSEDQVGREDSALARWAADPANTAWMENPEEAIYD
DVPRENSDSEPDEMIYDDVENGDEGGNSSLEYGWSSSEFESYEEQSDSECKNGIPRSFLR
SNHKKQLSHDLTRLKEHYEKKMRDLMASTVGVVEIQQLRQKHELKMQKLVKAAKDGTKDG
LERTRAAVKRGRSFIRTKSLIAQDHRSSLEEEQNLFIDVDCKHPEAILTPMPEGLSQQQV
VRRYILGSVVDSEKNYVDALKRILEQYEKPLSEMEPKVLSERKLKTVFYRVKEILQCHSL
FQIALASRVSEWDSVEMIGDVFVASFSKSMVLDAYSEYVNNFSTAVAVLKKTCATKPAFL
EFLKQEQEASPDRTTLYSLMMKPIQRFPQFILLLQDMLKNTSKGHPDRLPLQMALTELET
LAEKLN
ERKRDADQRCEVKQIAKAINERYLNKLLSSGSRYLIRSDDMIETVYNDRGEIVK
TKERRVFMLNDVLMCATVSSRPSHDSRVMSSQRYLLKWSVPLGHVDAIEYGSSAGTGEHS
RHLAVHPPESLAVVANAKPNKVYMGPGQLYQDLQNLLHDLNVIGQITQLIGNLKGNYQ
NL
NQSVAHDWTSGLQRLILKKEDEIRAADCCRIQLQLPGKQDKSGRPTFFTAVFNTFTPAIK
ESWVNSLQMAKLALEEENHMGWFCVEDDGNHIKKEKHPLLVGHMPVMVAKQQEFKIECAA
YNPEPYLNNESQPDSFSTAHGFLWIGSCTHQMGQIAIVSFQNSTPKVIECFNVESRILCM
LYVPVEEKRREPGAPPDPETPAVRASDVPTICVGTEEGSISIYKSSQGSKKVRLQHFFTP
EKSTVMSLACTSQSLYAGLVNGAVASYARAPDGSWDSEPQKVIKLGVLPVRSLLMMEDTL
WAASGGQVFIISVETHAVEGQLEAHQEEGMVISHMAVSGVGIWIAFTSGSTLRLFHTETL
KHLQDINIATPVHNMLPGHQRLSVTSLLVCHGLLMVGTSLGVLVALPVPRLQGIPKVTGR
GMVSYHAHNSPVKFIVLATALHEKDKDKSRDSLAPGPEPQDEDQKDALPSGGAGSSLSQG
DPDAAIWLGDSLGSMTQKSDLSSSSGSLSLSHGSSSLEHRSEDSTIYDLLKDPVSLRSKA
RRAKKAKASSALVVCGGQGHRRVHRKARQPHQEELAPTVMVWQIPLLN
I
Sequence length 1369
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
113
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs755542 RCV005914639
ARHGEF10-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs17683288, rs2272611, rs2280886, rs2272708, rs202020429, rs750357141, rs200940106, rs140952059, rs766706725, rs138879766, rs2272608, rs768362270, rs144835192, rs923161632, rs200316904
View all (12 more)
RCV004756276
RCV003984072
RCV003976029
RCV004756278
RCV003951203
RCV003923744
RCV003968842
RCV003978657
RCV003923602
RCV003950919
RCV003970923
RCV003961067
RCV003961225
RCV003391635
RCV003979415
RCV003909371
RCV003959276
RCV003976787
RCV003976947
RCV003915407
RCV003980211
RCV003975302
RCV003928259
RCV003926045
RCV003920507
RCV004756092
RCV003970482
Autosomal dominant slowed nerve conduction velocity Uncertain significance; Conflicting classifications of pathogenicity; no classifications from unflagged records; Likely benign; Benign rs1809808538, rs764859351, rs189989926, rs34036746, rs368730891, rs587777712, rs372309933, rs147531758, rs2537251289, rs2537493035, rs28940281, rs147825414, rs780286151, rs2537005626, rs2537205637
View all (32 more)
RCV001330526
RCV001333768
RCV005040300
RCV005361699
RCV005863662
RCV003137643
RCV002225211
RCV003603043
RCV002290157
RCV002290210
RCV000002634
RCV005399038
RCV003886602
RCV003141491
RCV003141492
RCV005631250
RCV003993603
RCV003994652
RCV004577199
RCV000415093
RCV001330527
RCV000625166
RCV000625164
RCV000521194
RCV000602920
RCV000608905
RCV000616940
RCV000603344
RCV000609339
RCV000625165
RCV000625167
RCV000625168
RCV000722105
RCV000757006
RCV000757007
RCV000785129
RCV001000266
RCV001001862
RCV001001937
RCV005359717
RCV001000249
RCV001000176
RCV001002797
RCV004720288
RCV001196131
RCV001196158
RCV001285987
Charcot-Marie-Tooth disease Conflicting classifications of pathogenicity; Benign; Uncertain significance rs587777712, rs147531758, rs9657362, rs767902219 RCV000144884
RCV000144885
RCV000789723
RCV000789724
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acne Vulgaris Associate 37018476
Amyotrophic Lateral Sclerosis Stimulate 40033250
Autistic Disorder Associate 36150388
Behcet Syndrome Associate 33124559
Charcot Marie Tooth Disease Associate 25164601, 26143528, 34169998
Chromosome 15q trisomy Associate 34247824
Cleft Palate Associate 31372216
Contracture Associate 35260397
Developmental Disabilities Associate 28901431
Diabetic Foot Associate 35260397