REM2

RRAD and GEM like GTPase 2, the group of RGK type GTPase family

Basic information

Region (hg38): 14:22883222-22887678

Links

ENSG00000139890

∙ NCBI:161253 ∙ OMIM:616955 ∙ HGNC:20248 ∙ Uniprot:Q8IYK8 ∙ 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 REM2 gene.

not_specified (44 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the REM2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000173527.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			42 clinvar	2 clinvar		44
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	42	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
REM2	protein_coding	protein_coding	ENST00000267396	5	4522

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000106	0.587	124427	0	228	124655	0.000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.26	148	198	0.748	0.0000120	2153
Missense in Polyphen		45	68.279	0.65906		786
Synonymous	1.02	71	82.8	0.857	0.00000489	736
Loss of Function	0.809	9	12.0	0.748	6.96e-7	137

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000887	0.000886
Ashkenazi Jewish	0.00278	0.00279
East Asian	0.000447	0.000445
Finnish	0.000418	0.000418
European (Non-Finnish)	0.00134	0.00134
Middle Eastern	0.000447	0.000445
South Asian	0.0000654	0.0000654
Other	0.00133	0.00132

dbNSFP

Source: dbNSFP

Function: FUNCTION: Binds GTP saturably and exhibits a low intrinsic rate of GTP hydrolysis. {ECO:0000250|UniProtKB:Q9WTY2}.;

Recessive Scores

pRec: 0.107

Intolerance Scores

loftool: 0.598
rvis_EVS: -0.07
rvis_percentile_EVS: 48.35

Haploinsufficiency Scores

pHI: 0.417
hipred: N
hipred_score: 0.330
ghis: 0.499

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.288

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Rem2
Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);

Zebrafish Information Network

Gene name: rem2
Affected structure: head
Phenotype tag: abnormal
Phenotype quality: decreased size

Gene ontology

Biological process: signal transduction;negative regulation of high voltage-gated calcium channel activity
Cellular component: plasma membrane
Molecular function: GTPase activity;calcium channel regulator activity;GTP binding