Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55160
Gene name	Rho guanine nucleotide exchange factor 10 like
Gene symbol	ARHGEF10L
Synonyms (NCBI Gene)	GrinchGEF
Chromosome	1
Chromosome location	1p36.13
Summary	This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs149908903	G>A,T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant

113

Show/Hide all (113)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043172	hsa-miR-324-5p	CLASH	23622248
MIRT043172	hsa-miR-324-5p	CLASH	23622248
MIRT795306	hsa-miR-323b-3p	CLIP-seq
MIRT795307	hsa-miR-499a-5p	CLIP-seq
MIRT1934811	hsa-miR-329	CLIP-seq
MIRT1934812	hsa-miR-342-3p	CLIP-seq
MIRT1934813	hsa-miR-362-3p	CLIP-seq
MIRT1934814	hsa-miR-603	CLIP-seq
MIRT2174587	hsa-miR-1226	CLIP-seq
MIRT2174588	hsa-miR-1268	CLIP-seq
MIRT2174589	hsa-miR-1268b	CLIP-seq
MIRT2174590	hsa-miR-3184	CLIP-seq
MIRT1934811	hsa-miR-329	CLIP-seq
MIRT1934812	hsa-miR-342-3p	CLIP-seq
MIRT1934813	hsa-miR-362-3p	CLIP-seq
MIRT2174591	hsa-miR-377	CLIP-seq
MIRT2174592	hsa-miR-423-5p	CLIP-seq
MIRT2174593	hsa-miR-4459	CLIP-seq
MIRT2174594	hsa-miR-4474-3p	CLIP-seq
MIRT2174595	hsa-miR-4690-3p	CLIP-seq
MIRT2174596	hsa-miR-4779	CLIP-seq
MIRT1934814	hsa-miR-603	CLIP-seq
MIRT2174597	hsa-miR-644	CLIP-seq
MIRT2174598	hsa-miR-665	CLIP-seq
MIRT1934812	hsa-miR-342-3p	CLIP-seq
MIRT2174595	hsa-miR-4690-3p	CLIP-seq
MIRT1934814	hsa-miR-603	CLIP-seq
MIRT2426421	hsa-miR-150	CLIP-seq
MIRT795306	hsa-miR-323b-3p	CLIP-seq
MIRT2426422	hsa-miR-338-3p	CLIP-seq
MIRT2426423	hsa-miR-3655	CLIP-seq
MIRT2426424	hsa-miR-369-3p	CLIP-seq
MIRT2426425	hsa-miR-374a	CLIP-seq
MIRT2426426	hsa-miR-374b	CLIP-seq
MIRT2426427	hsa-miR-4530	CLIP-seq
MIRT2426428	hsa-miR-4643	CLIP-seq
MIRT2426429	hsa-miR-466	CLIP-seq
MIRT2426430	hsa-miR-4713-5p	CLIP-seq
MIRT2426431	hsa-miR-4789-3p	CLIP-seq
MIRT2426432	hsa-miR-4789-5p	CLIP-seq
MIRT795307	hsa-miR-499a-5p	CLIP-seq
MIRT2426433	hsa-miR-511	CLIP-seq
MIRT2426434	hsa-miR-532-3p	CLIP-seq
MIRT2426435	hsa-miR-618	CLIP-seq
MIRT2174588	hsa-miR-1268	CLIP-seq
MIRT2174589	hsa-miR-1268b	CLIP-seq
MIRT2443930	hsa-miR-1289	CLIP-seq
MIRT2443931	hsa-miR-3198	CLIP-seq
MIRT2443932	hsa-miR-4294	CLIP-seq
MIRT2443933	hsa-miR-4309	CLIP-seq
MIRT2443934	hsa-miR-4312	CLIP-seq
MIRT2443935	hsa-miR-432	CLIP-seq
MIRT2174594	hsa-miR-4474-3p	CLIP-seq
MIRT2443936	hsa-miR-604	CLIP-seq
MIRT2174597	hsa-miR-644	CLIP-seq
MIRT2443937	hsa-miR-647	CLIP-seq
MIRT2478097	hsa-miR-1202	CLIP-seq
MIRT2174588	hsa-miR-1268	CLIP-seq
MIRT2174589	hsa-miR-1268b	CLIP-seq
MIRT2443930	hsa-miR-1289	CLIP-seq
MIRT2478098	hsa-miR-1294	CLIP-seq
MIRT2478099	hsa-miR-129-5p	CLIP-seq
MIRT2478100	hsa-miR-1296	CLIP-seq
MIRT2478101	hsa-miR-2113	CLIP-seq
MIRT2478102	hsa-miR-2682	CLIP-seq
MIRT2478103	hsa-miR-3136-3p	CLIP-seq
MIRT2174590	hsa-miR-3184	CLIP-seq
MIRT2443931	hsa-miR-3198	CLIP-seq
MIRT1934811	hsa-miR-329	CLIP-seq
MIRT1934813	hsa-miR-362-3p	CLIP-seq
MIRT2478104	hsa-miR-378g	CLIP-seq
MIRT2478105	hsa-miR-3972	CLIP-seq
MIRT2174592	hsa-miR-423-5p	CLIP-seq
MIRT2478106	hsa-miR-4282	CLIP-seq
MIRT2443932	hsa-miR-4294	CLIP-seq
MIRT2443933	hsa-miR-4309	CLIP-seq
MIRT2443934	hsa-miR-4312	CLIP-seq
MIRT2478107	hsa-miR-4316	CLIP-seq
MIRT2443935	hsa-miR-432	CLIP-seq
MIRT2174593	hsa-miR-4459	CLIP-seq
MIRT2174594	hsa-miR-4474-3p	CLIP-seq
MIRT2478108	hsa-miR-449c	CLIP-seq
MIRT2478109	hsa-miR-4512	CLIP-seq
MIRT2478110	hsa-miR-4514	CLIP-seq
MIRT2478111	hsa-miR-4645-5p	CLIP-seq
MIRT2478112	hsa-miR-4673	CLIP-seq
MIRT2478113	hsa-miR-4692	CLIP-seq
MIRT2478114	hsa-miR-4714-5p	CLIP-seq
MIRT2478115	hsa-miR-4755-3p	CLIP-seq
MIRT2478116	hsa-miR-4766-5p	CLIP-seq
MIRT2174596	hsa-miR-4779	CLIP-seq
MIRT2478117	hsa-miR-599	CLIP-seq
MIRT2443936	hsa-miR-604	CLIP-seq
MIRT2174597	hsa-miR-644	CLIP-seq
MIRT2443937	hsa-miR-647	CLIP-seq
MIRT2174598	hsa-miR-665	CLIP-seq
MIRT2174588	hsa-miR-1268	CLIP-seq
MIRT2174589	hsa-miR-1268b	CLIP-seq
MIRT2174590	hsa-miR-3184	CLIP-seq
MIRT1934811	hsa-miR-329	CLIP-seq
MIRT1934813	hsa-miR-362-3p	CLIP-seq
MIRT2174592	hsa-miR-423-5p	CLIP-seq
MIRT2478106	hsa-miR-4282	CLIP-seq
MIRT2174593	hsa-miR-4459	CLIP-seq
MIRT2174594	hsa-miR-4474-3p	CLIP-seq
MIRT2478114	hsa-miR-4714-5p	CLIP-seq
MIRT2478116	hsa-miR-4766-5p	CLIP-seq
MIRT2174596	hsa-miR-4779	CLIP-seq
MIRT2443936	hsa-miR-604	CLIP-seq
MIRT2174597	hsa-miR-644	CLIP-seq
MIRT2443937	hsa-miR-647	CLIP-seq
MIRT2174598	hsa-miR-665	CLIP-seq
MIRT2478114	hsa-miR-4714-5p	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005096	Function	GTPase activator activity	IDA	16112081
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	16112081
GO:0005829	Component	Cytosol	TAS
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0032933	Process	SREBP signaling pathway	IBA
GO:0032933	Process	SREBP signaling pathway	IDA	16112081
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051496	Process	Positive regulation of stress fiber assembly	IBA
GO:0051496	Process	Positive regulation of stress fiber assembly	IDA	16112081
GO:0051496	Process	Positive regulation of stress fiber assembly	IEA

MIM	HGNC	e!Ensembl
612494	25540	ENSG00000074964

Q9HCE6

Protein name

Rho guanine nucleotide exchange factor 10-like protein (GrinchGEF)

Protein function

Acts as a guanine nucleotide exchange factor (GEF) for RHOA, RHOB and RHOC.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00621	RhoGEF	320 → 501	RhoGEF domain	Domain
PF19057	PH_19	525 → 681		Domain
PF19056	WD40_2	789 → 1279		Repeat

Tissue specificity

TISSUE SPECIFICITY: Detected in heart, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:16112081}.

Sequence

MASSNPPPQPAIGDQLVPGVPGPSSEAEDDPGEAFEFDDSDDEEDTSAALGVPSLAPERD
TDPPLIHLDSIPVTDPDPAAAPPGTGVPAWVSNGDAADAAFSGARHSSWKRKSSRRIDRF
TFPALEEDVIYDDVPCESPDAHQPGAERNLLYEDAHRAGAPRQAEDLGWSSSEFESYSED
SGEEAKPEVEVEPAKHRVSFQPKLSPDLTRLKERYARTKRDILALRVGGRDMQELKHKYD
CKMTQLMKAAKSGTKDGLEKTRMAVMRKVSFLHRKDVLGDSEEEDMGLLEVSVSDIKPPA
PELGPMPEGLSPQQVVRRHILGSIVQSEGSYVESLKRILQDYRNPLMEMEPKALSARKCQ
VVFFRVKEILHCHSMFQIALSSRVAEWDSTEKIGDLFVASFSKSMVLDVYSDYVNNFTSA
MSIIKKACLTKPAFLEFLKRRQVCSPDRVTLYGLMVKPIQRFPQFILLLQDMLKNTPRGH
PDRLSLQLALTELETLAEKLNEQKRLADQVAEIQQLTKSVSDRSSLNKLLTSGQRQLLLC
ETLTETVYGDRGQLIKSKERRVFLLNDMLVCANINFKPANHRGQLEISSLVPLGPKYVVK
WNTALPQVQVVEVGQDGGTYDKDNVLIQHSGAKKASASGQAQNKVYLGPPRLFQELQDLQ
KDLAVVEQITLLISTLHGTYQNLNMTVAQDWCLALQRLMRVKEEEIHSANKCRLRLLLPG
KPDKSGRPISFMVVFITPNPLSKISWVNRLHLAKIGLREENQPGWLCPDEDKKSKAPFWC
PILACCIPAFSSRALSLQLGALVHSPVNCPLLGFSAVSTSLPQGYLWVGGGQEGAGGQVE
IFSLNRPSPRTVKSFPLAAPVLCMEYIPELEEEAESRDESPTVADPSATVHPTICLGLQD
GSILLYSSVDTGTQCLVSCRSPGLQPVLCLRHSPFHLLAGLQDGTLAAYPRTSGGVLWDL
ESPPVCLTVGPGPVRTLLSLEDAVWASCGPRVTVLEATTLQPQQSFEAHQDEAVSVTHMV
KAGSGVWMAFSSGTSIRLFHTETLEHLQEINIATRTTFLLPGQKHLCVTSLLICQGLLWV
GTDQGVIVLLPVPRLEGIPKITGKGMVSLNGHCGPVAFLAVATSILAPDILRSDQEEAEG
PRAEEDKPDGQAHEPMPDSHVGRELTRKKGILLQYRLRSTAHLPGPLLSMREPAPADGAA
LEHSEEDGSIYEMADDPDIWVRSRPCARDAHRKEICSVAIISGGQGYRNFGSALGSSGRQ
APCGETDSTLLIWQVPLML

Sequence length

1279

Interactions

View interactions

	Reactome
			NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral visual impairment and intellectual disability	Likely pathogenic	rs149908903	RCV000210382

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Teratoma	Uncertain significance	rs1304791222	RCV003221369

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinogenesis	Stimulate	32154766
Carcinoma Ovarian Epithelial	Associate	29979793
Leukemia Myeloid Acute	Associate	38180276
Stomach Neoplasms	Associate	32154766
Vision Disorders	Associate	26350515

ARHGEF10L (Rho guanine nucleotide exchange factor 10 like)