Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9639
Gene name Gene Name - the full gene name approved by the HGNC.
Rho guanine nucleotide exchange factor 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARHGEF10
Synonyms (NCBI Gene) Gene synonyms aliases
GEF10, SNCV
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608136 14103 ENSG00000104728
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease N/A N/A ClinVar
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Mental Depression Clinical depression N/A N/A GWAS
Associations from Text Mining Disease 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