GAREM2

GRB2 associated regulator of MAPK1 subtype 2

Basic information

Region (hg38): 2:26173087-26189663

Previous symbols: [ "FAM59B", "GAREML" ]

Links

ENSG00000157833 ∙ NCBI:150946 ∙ OMIM:617999 ∙ HGNC:27172 ∙ Uniprot:Q75VX8 ∙ 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 GAREM2 gene.

• Inborn genetic diseases (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GAREM2 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in GAREM2

This is a list of pathogenic ClinVar variants found in the GAREM2 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-26183002-C-G		not specified	Uncertain significance (Nov 09, 2021)
2-26183060-G-A		not specified	Uncertain significance (Sep 01, 2021)
2-26183092-G-A		not specified	Uncertain significance (Jul 06, 2021)
2-26184408-T-G		not specified	Uncertain significance (Sep 17, 2021)
2-26184779-G-A		not specified	Uncertain significance (Aug 02, 2021)
2-26185059-A-C		not specified	Uncertain significance (Aug 16, 2021)
2-26185065-A-C		not specified	Uncertain significance (Aug 10, 2021)
2-26185167-G-A		not specified	Uncertain significance (Aug 13, 2021)
2-26187386-G-A		not specified	Uncertain significance (Nov 08, 2021)
2-26187532-T-C		not specified	Uncertain significance (Sep 17, 2021)
2-26187535-G-A		not specified	Uncertain significance (Aug 09, 2021)
2-26187671-C-A		not specified	Uncertain significance (Jul 13, 2021)
2-26188082-G-A		not specified	Uncertain significance (Jul 09, 2021)
2-26188148-G-T		not specified	Uncertain significance (Jul 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GAREM2	protein_coding	protein_coding	ENST00000401533	6	16573

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.439	0.561	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.73	264	356	0.742	0.0000224	5456
Missense in Polyphen		109	185.89	0.58636		2554
Synonymous	0.772	149	161	0.923	0.0000106	1983
Loss of Function	3.13	4	18.5	0.216	0.00000106	277

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable adapter protein that may provide a link between cell surface epidermal growth factor receptor and the MAPK/ERK signaling pathway. {ECO:0000250}.

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Garem2