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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	6014
Gene name	Ras like without CAAX 2
Gene symbol	RIT2
Synonyms (NCBI Gene)	RIBARINROC2
Chromosome	18
Chromosome location	18q12.3
Summary	RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008]

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments
MIRT1307789	hsa-miR-3163	CLIP-seq
MIRT1307790	hsa-miR-3919	CLIP-seq
MIRT1307791	hsa-miR-4282	CLIP-seq
MIRT1307792	hsa-miR-4756-3p	CLIP-seq

Show/Hide all (63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	ISS
GO:0000166	Function	Nucleotide binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	ISS
GO:0003924	Function	GTPase activity	NAS	8824319
GO:0003925	Function	G protein activity	IEA
GO:0005515	Function	Protein binding	IPI	21957239, 32296183
GO:0005516	Function	Calmodulin binding	IBA
GO:0005516	Function	Calmodulin binding	IDA	8918462
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	ISS
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	ISS
GO:0005634	Component	Nucleus	IDA	16122393
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	16122393, 21957239
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	8824319
GO:0007165	Process	Signal transduction	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	NAS	8824319
GO:0007265	Process	Ras protein signal transduction	IBA
GO:0007265	Process	Ras protein signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	ISS
GO:0007268	Process	Chemical synaptic transmission	TAS	8918462
GO:0010976	Process	Positive regulation of neuron projection development	IBA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IGI	16157584
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019003	Function	GDP binding	IBA
GO:0030100	Process	Regulation of endocytosis	IMP	21957239
GO:0030215	Function	Semaphorin receptor binding	IPI	16122393
GO:0032489	Process	Regulation of Cdc42 protein signal transduction	IEA
GO:0032489	Process	Regulation of Cdc42 protein signal transduction	ISS
GO:0032507	Process	Maintenance of protein location in cell	IMP	21957239
GO:0035556	Process	Intracellular signal transduction	IDA	21957239
GO:0042802	Function	Identical protein binding	IDA	21957239
GO:0043005	Component	Neuron projection	IDA	21957239
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	ISS
GO:0044297	Component	Cell body	IEA
GO:0044297	Component	Cell body	ISS
GO:0045121	Component	Membrane raft	IDA	21957239
GO:0045202	Component	Synapse	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0050848	Process	Regulation of calcium-mediated signaling	IEA
GO:0050848	Process	Regulation of calcium-mediated signaling	ISS
GO:0097447	Component	Dendritic tree	IEA
GO:0097447	Component	Dendritic tree	ISS

MIM	HGNC	e!Ensembl
609592	10017	ENSG00000152214

Q99578

Protein name

GTP-binding protein Rit2 (EC 3.6.5.2) (Ras-like protein expressed in neurons) (Ras-like without CAAX protein 2)

Protein function

Binds and exchanges GTP and GDP. Binds and modulates the activation of POU4F1 as gene expression regulator.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00071	Ras	22 → 183	Ras family	Domain

Tissue specificity

TISSUE SPECIFICITY: Neuron-specific.

Sequence

MEVENEASCSPGSASGGSREYKVVMLGAGGVGKSAMTMQFISHQFPDYHDPTIEDAYKTQ
VRIDNEPAYLDILDTAGQAEFTAMREQYMRGGEGFIICYSVTDRQSFQEAAKFKELIFQV
RHTYEIPLVLVGNKIDLEQFRQVSTEEGLSLAQEYNCGFFETSAALRFCIDDAFHGLVRE
IRKKESMPSLMEKKLKRKDSLWKKLKGSLKKKRENMT

Sequence length

217

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)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	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.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenoma	Adenoma	BEFREE	20219115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	30157932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28190241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	26941103, 29860660		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	8637247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	26941103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	20219115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36849394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	28793277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	30157932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30120944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30120944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29973470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17704823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis, Membranoproliferative	Glomerulonephritis	BEFREE	7505528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	BEFREE	28793277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	28793277		★★★★★ ★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	10811645, 17704823, 27609787, 28793277, 8479910, 9166666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	26892569, 29860660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	28793277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26941103, 29860660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASCAT_DG	21738487, 22451204, 25064009, 27182965, 28892059		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASDB_DG	21738487, 22451204		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	23071545	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	23635658, 25457028, 25534083, 25559334, 26188085, 26334395, 26941103, 27889863, 29860660, 30137437, 31818509		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	28190241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	30157932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	24107072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	1517251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	1517251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	22491018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	22491018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20489179, 26941103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	GWASCAT_DG	30738427		★★★★★ ★☆☆☆☆ Found in Text Mining only

RIT2 (Ras like without CAAX 2)