EML2

EMAP like 2, the group of WD repeat domain containing|MicroRNA protein coding host genes|EMAP like

Basic information

Region (hg38): 19:45606994-45645602

Links

ENSG00000125746 ∙ NCBI:24139 ∙ OMIM:617494 ∙ HGNC:18035 ∙ Uniprot:O95834 ∙ 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 EML2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EML2 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				3		3
missense			51			51
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	51	3	0

Variants in EML2

This is a list of pathogenic ClinVar variants found in the EML2 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-45607375-A-C			Likely benign (Jun 01, 2022)
19-45609722-T-C		not specified	Uncertain significance (Jan 16, 2024)
19-45609726-A-T		not specified	Uncertain significance (Dec 30, 2023)
19-45609729-C-A		not specified	Uncertain significance (Aug 21, 2023)
19-45609787-G-T		not specified	Uncertain significance (Oct 04, 2022)
19-45613547-C-A		not specified	Uncertain significance (Apr 26, 2023)
19-45613618-G-A		not specified	Uncertain significance (Jun 29, 2022)
19-45614619-C-T		not specified	Uncertain significance (Sep 13, 2023)
19-45614662-C-T		not specified	Uncertain significance (Apr 23, 2024)
19-45614666-C-T			Likely benign (May 01, 2022)
19-45614697-T-A		not specified	Uncertain significance (Aug 17, 2022)
19-45614698-C-A		not specified	Uncertain significance (Jul 19, 2023)
19-45615810-A-G		not specified	Uncertain significance (Mar 22, 2023)
19-45615828-T-C		not specified	Uncertain significance (Dec 20, 2023)
19-45615832-T-G		not specified	Uncertain significance (May 02, 2024)
19-45616495-C-T		not specified	Uncertain significance (Mar 01, 2024)
19-45616549-T-C		not specified	Uncertain significance (May 04, 2023)
19-45616558-T-G		not specified	Uncertain significance (Nov 30, 2021)
19-45616819-C-T		not specified	Uncertain significance (Jul 14, 2021)
19-45617679-C-T		not specified	Uncertain significance (Jan 18, 2023)
19-45617688-G-A		not specified	Uncertain significance (Sep 01, 2021)
19-45619079-A-G		not specified	Uncertain significance (Jan 17, 2024)
19-45619163-G-A		not specified	Uncertain significance (Aug 15, 2023)
19-45619177-C-A		not specified	Uncertain significance (Mar 29, 2022)
19-45619186-A-C		not specified	Uncertain significance (Jul 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EML2	protein_coding	protein_coding	ENST00000587152	22	38636

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.76e-19	0.158	125669	0	79	125748	0.000314

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.131	495	503	0.984	0.0000294	5414
Missense in Polyphen		155	155.58	0.99627		1667
Synonymous	-0.202	225	221	1.02	0.0000140	1800
Loss of Function	1.41	34	44.1	0.771	0.00000218	500

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000268	0.000266
Ashkenazi Jewish	0.00170	0.00169
East Asian	0.000435	0.000435
Finnish	0.000324	0.000323
European (Non-Finnish)	0.000204	0.000193
Middle Eastern	0.000435	0.000435
South Asian	0.000523	0.000523
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Tubulin binding protein that inhibits microtubule nucleation and growth, resulting in shorter microtubules. {ECO:0000269|PubMed:11694528}.

Recessive Scores

• pRec: 0.114

Intolerance Scores

• loftool: 0.881
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.49

Haploinsufficiency Scores

• pHI: 0.172
• hipred: N
• hipred_score: 0.247
• ghis: 0.574

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.924

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eml2
• Phenotype: vision/eye phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: visual perception;sensory perception of sound;regulation of microtubule nucleation;negative regulation of microtubule polymerization
• Cellular component: cytoplasm;microtubule;microtubule associated complex;microtubule cytoskeleton;mitotic spindle
• Molecular function: signaling receptor binding;protein binding;microtubule binding;protein C-terminus binding;tubulin binding