Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	84253
Gene name	GTPase activating Rap/RanGAP domain like 3
Gene symbol	GARNL3
Synonyms (NCBI Gene)	bA356B19.1
Chromosome	9
Chromosome location	9q33.3

miRTarBase ID	miRNA	Experiments	Reference
MIRT048979	hsa-miR-92a-3p	CLASH	23622248

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Q5VVW2

Protein name

GTPase-activating Rap/Ran-GAP domain-like protein 3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00780	CNH	493 → 797	CNH domain	Family
PF02145	Rap_GAP	220 → 401	Rap/ran-GAP	Family

Sequence

MVVDFCRRFVARSLCIILMKHFCSSSVSEDLGCRRGDFSRKHYGSVELLISSDADGAIQR
AGRFRVENGSSDENATALPGTWRRTDVHLENPEYHTRWYFKYFLGQVHQNYIGNDAEKSP
FFLSVTLSDQNNQRVPQYRAILWRKTGTQKICLPYSPTKTLSVKSILSAMNLDKFEKGPR
EIFHPEIQKDLLVLEEQEGSVNFKFGVLFAKDGQLTDDEMFSNEIGSEPFQKFLNLLGDT
ITLKGWTGYRGGLDTKNDTTGIHSVYTVYQGHEIMFHVSTMLPYSKENKQQVERKRHIGN
DIVTIVFQEGEESSPAFKPSMIRSHFTHIFALVRYNQQNDNYRLKIFSEESVPLFGPPLP
TPPVFTDHQEFRDFLLVKLINGEKATLETPTFAQKRRRTLDMLIRSLHQDLMPDLHKNML
NRRSFSDVLPESPKSARKKEEARQAEFVRIGQALKLKSIVRGDAPSSLAASGICKKEPWE
PQCFCSNFPHEAVCADPWGQALLVSTDAGVLLVDDDLPSVPVFDRTLPVKQMHVLETLDL
LVLRADKGKDARLFVFRLSALQKGLEGKQAGKSRSDCRENKLEKTKGCHLYAINTHHSRE
LRIVVAIRNKLLLITRKHNKPSGVTSTSLLSPLSESPVEEFQYIREICLSDSPMVMTLVD
GPAEESDNLICVAYRHQFDVVNESTGEAFRLHHVEANRVNFVAAIDVYEDGEAGLLLCYN
YSCIYKKVCPFNGGSFLVQPSASDFQFCWNQAPYAIVCAFPYLLAFTTDSMEIRLVVNGN
LVHTAVVPQLQLVASRSDIYFTATAAVNEVSSGGSSKGASARNSPQTPPGRDTPVFPSSL
GEGEIQSKNLYKIPLRNLVGRSIERPLKSPLVSKVITPPTPISVGLAAIPVTHSLSLSRM
EIKEIASRTRRELLGLSDEGGPKSEGAPKAKSKPRKRLEESQGGPKPGAVRSSSSDRIPS
GSLESASTSEANPEGHSASSDQDPVADREGSPVSGSSPFQLTAFSDEDIIDLK

Sequence length

1013

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic	rs764279982	RCV001291081	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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.
ASTROCYTOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	18711365, 20351715	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	25188341	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Glioblastoma	Glioblastoma	Pubtator	33423377	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30167849		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40696737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GARNL3 (GTPase activating Rap/RanGAP domain like 3)

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