GEM

GTP binding protein overexpressed in skeletal muscle, the group of RGK type GTPase family

Basic information

Region (hg38): 8:94249253-94262350

Links

ENSG00000164949 ∙ NCBI:2669 ∙ OMIM:600164 ∙ HGNC:4234 ∙ Uniprot:P55040 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GEM gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GEM gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			18		2	20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	2

Variants in GEM

This is a list of pathogenic ClinVar variants found in the GEM region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-94250399-G-A		not specified	Uncertain significance (Mar 20, 2024)
8-94250413-G-A		not specified	Uncertain significance (Aug 08, 2023)
8-94250417-T-C		not specified	Uncertain significance (Mar 11, 2024)
8-94250450-G-A		not specified	Uncertain significance (Apr 22, 2024)
8-94250462-C-G		not specified	Uncertain significance (Nov 27, 2024)
8-94250462-C-T		not specified	Uncertain significance (Oct 06, 2024)
8-94250473-C-T		not specified	Uncertain significance (Jun 11, 2024)
8-94250485-A-G		not specified	Uncertain significance (Jun 02, 2023)
8-94250558-A-G		not specified	Uncertain significance (Sep 04, 2024)
8-94252088-C-T		not specified	Uncertain significance (Apr 26, 2023)
8-94252111-T-C		not specified	Uncertain significance (Nov 24, 2024)
8-94252136-C-T		not specified	Uncertain significance (Nov 03, 2022)
8-94252147-C-T		not specified	Uncertain significance (Nov 22, 2023)
8-94253067-G-A		not specified	Uncertain significance (Mar 07, 2025)
8-94253071-C-T		not specified	Uncertain significance (Sep 24, 2024)
8-94260191-C-T		not specified	Uncertain significance (Nov 03, 2022)
8-94260265-A-G		not specified	Uncertain significance (Jun 28, 2022)
8-94260321-G-C			Benign (Jun 14, 2018)
8-94260392-G-A			Benign (Jun 08, 2018)
8-94260443-G-A		not specified	Uncertain significance (Mar 09, 2025)
8-94260464-C-T		not specified	Uncertain significance (Jul 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GEM	protein_coding	protein_coding	ENST00000297596	4	13098

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.18e-8	0.343	125597	0	151	125748	0.000601

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.117	183	188	0.976	0.0000116	1949
Missense in Polyphen		78	78.608	0.99227		735
Synonymous	0.868	60	69.2	0.867	0.00000376	579
Loss of Function	0.741	14	17.3	0.808	0.00000135	129

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000301	0.000301
Ashkenazi Jewish	0.00	0.00
East Asian	0.00267	0.00267
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000766	0.000756
Middle Eastern	0.00267	0.00267
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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.

Recessive Scores

• pRec: 0.116

Intolerance Scores

• loftool: 0.844
• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.51

Haploinsufficiency Scores

• pHI: 0.417
• hipred: N
• hipred_score: 0.350
• ghis: 0.535

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.750

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Gem
• Phenotype: homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; reproductive system phenotype

Gene ontology

• Biological process: mitotic cell cycle;immune response;signal transduction;cell surface receptor signaling pathway;chromosome organization;metaphase plate congression;negative regulation of high voltage-gated calcium channel activity
• Cellular component: nucleus;plasma membrane;cytoplasmic side of plasma membrane;midbody;spindle midzone;mitotic spindle
• Molecular function: magnesium ion binding;GTPase activity;calcium channel regulator activity;protein binding;calmodulin binding;GTP binding;GDP binding