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	2669
Gene name	GTP binding protein overexpressed in skeletal muscle
Gene symbol	GEM
Synonyms (NCBI Gene)	KIR
Chromosome	8
Chromosome location	8q22.1
Summary	The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicin

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017623	hsa-miR-335-5p	Microarray	18185580
MIRT029336	hsa-miR-26b-5p	Microarray	19088304
MIRT716922	hsa-miR-5692a	HITS-CLIP	19536157
MIRT716921	hsa-miR-3121-3p	HITS-CLIP	19536157
MIRT716920	hsa-miR-3920	HITS-CLIP	19536157
MIRT716919	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT716917	hsa-miR-3671	HITS-CLIP	19536157
MIRT716918	hsa-miR-607	HITS-CLIP	19536157
MIRT716915	hsa-miR-3679-3p	HITS-CLIP	19536157
MIRT440580	hsa-miR-544a	HITS-CLIP	24374217
MIRT440580	hsa-miR-544a	HITS-CLIP	24374217
MIRT716922	hsa-miR-5692a	HITS-CLIP	19536157
MIRT716921	hsa-miR-3121-3p	HITS-CLIP	19536157
MIRT716920	hsa-miR-3920	HITS-CLIP	19536157
MIRT716919	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT716917	hsa-miR-3671	HITS-CLIP	19536157
MIRT716918	hsa-miR-607	HITS-CLIP	19536157
MIRT716915	hsa-miR-3679-3p	HITS-CLIP	19536157
MIRT1016096	hsa-miR-1206	CLIP-seq
MIRT1016097	hsa-miR-1272	CLIP-seq
MIRT1016098	hsa-miR-3653	CLIP-seq
MIRT1016099	hsa-miR-3658	CLIP-seq
MIRT1016100	hsa-miR-4282	CLIP-seq
MIRT1016101	hsa-miR-4477a	CLIP-seq
MIRT1016102	hsa-miR-1343	CLIP-seq
MIRT1016103	hsa-miR-3155	CLIP-seq
MIRT2000790	hsa-miR-3163	CLIP-seq
MIRT2000791	hsa-miR-3662	CLIP-seq
MIRT2000792	hsa-miR-450b-5p	CLIP-seq
MIRT2000793	hsa-miR-3148	CLIP-seq
MIRT2000794	hsa-miR-3153	CLIP-seq
MIRT2000791	hsa-miR-3662	CLIP-seq
MIRT1016100	hsa-miR-4282	CLIP-seq
MIRT2000792	hsa-miR-450b-5p	CLIP-seq
MIRT2000795	hsa-miR-4646-5p	CLIP-seq
MIRT2000796	hsa-miR-4668-5p	CLIP-seq
MIRT2000797	hsa-miR-507	CLIP-seq
MIRT2000798	hsa-miR-518a-5p	CLIP-seq
MIRT2000799	hsa-miR-522	CLIP-seq
MIRT2000800	hsa-miR-527	CLIP-seq
MIRT2000801	hsa-miR-557	CLIP-seq
MIRT2234263	hsa-miR-1243	CLIP-seq
MIRT2234264	hsa-miR-1278	CLIP-seq
MIRT2234265	hsa-miR-1470	CLIP-seq
MIRT2234266	hsa-miR-2278	CLIP-seq
MIRT2234267	hsa-miR-3121-5p	CLIP-seq
MIRT2234268	hsa-miR-3185	CLIP-seq
MIRT2234269	hsa-miR-3654	CLIP-seq
MIRT2000791	hsa-miR-3662	CLIP-seq
MIRT2234270	hsa-miR-3973	CLIP-seq
MIRT2234271	hsa-miR-4273	CLIP-seq
MIRT2234272	hsa-miR-4468	CLIP-seq
MIRT2000792	hsa-miR-450b-5p	CLIP-seq
MIRT2234273	hsa-miR-4667-3p	CLIP-seq
MIRT2234274	hsa-miR-4677-5p	CLIP-seq
MIRT2234275	hsa-miR-4709-3p	CLIP-seq
MIRT2000797	hsa-miR-507	CLIP-seq
MIRT2000798	hsa-miR-518a-5p	CLIP-seq
MIRT2000799	hsa-miR-522	CLIP-seq
MIRT2000800	hsa-miR-527	CLIP-seq
MIRT2234276	hsa-miR-548k	CLIP-seq
MIRT2000801	hsa-miR-557	CLIP-seq
MIRT2234277	hsa-miR-578	CLIP-seq
MIRT2234278	hsa-miR-645	CLIP-seq
MIRT2000791	hsa-miR-3662	CLIP-seq
MIRT1016097	hsa-miR-1272	CLIP-seq
MIRT2538298	hsa-miR-1322	CLIP-seq
MIRT2538299	hsa-miR-3613-3p	CLIP-seq
MIRT2538300	hsa-miR-4325	CLIP-seq
MIRT2538301	hsa-miR-4452	CLIP-seq
MIRT2000792	hsa-miR-450b-5p	CLIP-seq
MIRT2538302	hsa-miR-4762-3p	CLIP-seq
MIRT2538303	hsa-miR-4803	CLIP-seq
MIRT2000797	hsa-miR-507	CLIP-seq
MIRT2538304	hsa-miR-548c-3p	CLIP-seq
MIRT2000801	hsa-miR-557	CLIP-seq
MIRT2538305	hsa-miR-876-3p	CLIP-seq
MIRT1016097	hsa-miR-1272	CLIP-seq
MIRT2538298	hsa-miR-1322	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000278	Process	Mitotic cell cycle	IMP	22964304
GO:0000287	Function	Magnesium ion binding	IDA	17107948
GO:0003924	Function	GTPase activity	IDA	17107948
GO:0003924	Function	GTPase activity	IEA
GO:0005246	Function	Calcium channel regulator activity	IBA
GO:0005515	Function	Protein binding	IPI	12093360, 14701738, 16189514, 17052716, 19060904, 20679232, 25416956, 30833792, 30886144, 31515488, 32296183, 35122502
GO:0005516	Function	Calmodulin binding	IEA
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IDA	17107948
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	TAS	7912851
GO:0005634	Component	Nucleus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006955	Process	Immune response	TAS	7912851
GO:0007165	Process	Signal transduction	TAS	7912851, 8825643
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	7912851
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	7912851
GO:0016020	Component	Membrane	IEA
GO:0019003	Function	GDP binding	IDA	17052716, 17107948
GO:0030496	Component	Midbody	IDA	22964304
GO:0051233	Component	Spindle midzone	IDA	22964304
GO:0051276	Process	Chromosome organization	IMP	22964304
GO:0051310	Process	Metaphase chromosome alignment	IMP	22964304
GO:0072686	Component	Mitotic spindle	IDA	22964304

MIM	HGNC	e!Ensembl
600164	4234	ENSG00000164949

P55040

Protein name

GTP-binding protein GEM (GTP-binding mitogen-induced T-cell protein) (RAS-like protein KIR)

Protein function

Could be a regulatory protein, possibly participating in receptor-mediated signal transduction at the plasma membrane. Has guanine nucleotide-binding activity but undetectable intrinsic GTPase activity.

PDB

2CJW , 2G3Y , 2HT6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00071	Ras	77 → 241	Ras family	Domain

Tissue specificity

TISSUE SPECIFICITY: Most abundant in thymus, spleen, kidney, lung, and testis. Less abundant in heart, brain, liver and skeletal muscle.

Sequence

MTLNNVTMRQGTVGMQPQQQRWSIPADGRHLMVQKEPHQYSHRNRHSATPEDHCRRSWSS
DSTDSVISSESGNTYYRVVLIGEQGVGKSTLANIFAGVHDSMDSDCEVLGEDTYERTLMV
DGESATIILLDMWENKGENEWLHDHCMQVGDAYLIVYSITDRASFEKASELRIQLRRARQ
TEDIPIILVGNKSDLVRCREVSVSEGRACAVVFDCKFIETSAAVQHNVKELFEGIVRQVR
LRRDSKEKNERRLAYQKRKESMPRKARRFWGKIVAKNNKNMAFKLKSKSCHDLSVL

Sequence length

296

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 (3)

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.
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

GEM (GTP binding protein overexpressed in skeletal muscle)