GMIP

GEM interacting protein, the group of AH/BAR family Rho GTPase activating proteins

Basic information

Region (hg38): 19:19629476-19643657

Links

ENSG00000089639 ∙ NCBI:51291 ∙ OMIM:609694 ∙ HGNC:24852 ∙ Uniprot:Q9P107 ∙ 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 GMIP gene.

• not_specified (116 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GMIP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016573.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3		3
missense			111	5		116
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	111	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GMIP	protein_coding	protein_coding	ENST00000203556	21	14192

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.88e-10	1.00	125703	0	45	125748	0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.48	434	606	0.716	0.0000407	6143
Missense in Polyphen		128	209.88	0.60987		2009
Synonymous	1.67	233	268	0.870	0.0000191	2055
Loss of Function	3.16	24	47.5	0.505	0.00000254	506

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000706	0.000702
Ashkenazi Jewish	0.00	0.00
East Asian	0.000112	0.000109
Finnish	0.0000973	0.0000924
European (Non-Finnish)	0.000214	0.000211
Middle Eastern	0.000112	0.000109
South Asian	0.0000658	0.0000653
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Stimulates, in vitro and in vivo, the GTPase activity of RhoA. {ECO:0000269|PubMed:12093360}.
• Pathway: Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases (Consensus)

Recessive Scores

• pRec: 0.127

Intolerance Scores

• loftool: 0.604
• rvis_EVS: 0.32
• rvis_percentile_EVS: 72.83

Haploinsufficiency Scores

• pHI: 0.429
• hipred: Y
• hipred_score: 0.595
• ghis: 0.567

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.736

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gmip

Gene ontology

• Biological process: negative regulation of GTPase activity;intracellular signal transduction;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction
• Cellular component: nucleoplasm;cytosol;plasma membrane
• Molecular function: GTPase activator activity;protein binding;metal ion binding