ELOVL2

ELOVL fatty acid elongase 2

Basic information

Region (hg38): 6:10980758-11044305

Links

ENSG00000197977 ∙ NCBI:54898 ∙ OMIM:611814 ∙ HGNC:14416 ∙ Uniprot:Q9NXB9 ∙ 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 ELOVL2 gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ELOVL2 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in ELOVL2

This is a list of pathogenic ClinVar variants found in the ELOVL2 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-10983801-T-C		not specified	Uncertain significance (Aug 18, 2023)
6-10983864-G-T		not specified	Uncertain significance (Jun 11, 2021)
6-10983888-T-A		not specified	Uncertain significance (Jun 02, 2023)
6-10989704-T-C		not specified	Uncertain significance (Dec 20, 2023)
6-10989708-C-T		not specified	Uncertain significance (Jun 24, 2022)
6-10989716-T-C		not specified	Uncertain significance (Dec 20, 2023)
6-10989737-G-A		not specified	Uncertain significance (Jul 06, 2021)
6-10989782-C-G		not specified	Uncertain significance (Nov 07, 2022)
6-10989828-C-T		not specified	Uncertain significance (Feb 28, 2024)
6-10990397-T-C		not specified	Uncertain significance (Sep 21, 2023)
6-10995088-T-C		not specified	Uncertain significance (Jul 27, 2022)
6-10995103-T-C		not specified	Uncertain significance (Jan 03, 2022)
6-10995106-G-A		not specified	Uncertain significance (Apr 19, 2023)
6-10995109-A-C		not specified	Uncertain significance (Jan 03, 2024)
6-11000089-G-A		not specified	Uncertain significance (Dec 22, 2023)
6-11000090-G-C		not specified	Uncertain significance (Feb 22, 2023)
6-11005518-G-A		not specified	Uncertain significance (Aug 13, 2021)
6-11010748-C-T		not specified	Uncertain significance (Dec 06, 2021)
6-11010778-T-C		not specified	Uncertain significance (Jan 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ELOVL2	protein_coding	protein_coding	ENST00000354666	8	63556

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.37e-10	0.154	125678	0	69	125747	0.000274

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0749	162	165	0.984	0.00000888	1955
Missense in Polyphen		73	77.37	0.94352		910
Synonymous	0.406	56	60.0	0.933	0.00000373	529
Loss of Function	0.408	15	16.8	0.893	8.62e-7	190

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000509	0.000508
Ashkenazi Jewish	0.00	0.00
East Asian	0.000928	0.000925
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.000928	0.000925
South Asian	0.000672	0.000588
Other	0.000667	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n- 6) acyl-CoA. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). May participate in the production of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. {ECO:0000255|HAMAP-Rule:MF_03202, ECO:0000269|PubMed:12371743, ECO:0000269|PubMed:20937905}.
• Pathway: Biosynthesis of unsaturated fatty acids - Homo sapiens (human);Fatty acid elongation - Homo sapiens (human);Ectoderm Differentiation;Metabolism of lipids;Fatty acyl-CoA biosynthesis;alpha-linolenic acid (ALA) metabolism;Linoleic acid (LA) metabolism;alpha-linolenic (omega3) and linoleic (omega6) acid metabolism;Metabolism;Fatty acid metabolism;docosahexaenoate biosynthesis III (mammals);Synthesis of very long-chain fatty acyl-CoAs (Consensus)

Recessive Scores

• pRec: 0.180

Intolerance Scores

• loftool: 0.819
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.16

Haploinsufficiency Scores

• pHI: 0.870
• hipred: N
• hipred_score: 0.394
• ghis: 0.555

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.511

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Elovl2
• Phenotype: homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; reproductive system phenotype

Gene ontology

• Biological process: unsaturated fatty acid biosynthetic process;fatty acid elongation, saturated fatty acid;sphingolipid biosynthetic process;fatty acid elongation, monounsaturated fatty acid;fatty acid elongation, polyunsaturated fatty acid;long-chain fatty-acyl-CoA biosynthetic process;alpha-linolenic acid metabolic process;very long-chain fatty acid biosynthetic process;linoleic acid metabolic process
• Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane;integral component of endoplasmic reticulum membrane
• Molecular function: protein binding;fatty acid elongase activity;3-oxo-arachidoyl-CoA synthase activity;3-oxo-cerotoyl-CoA synthase activity;3-oxo-lignoceronyl-CoA synthase activity;very-long-chain 3-ketoacyl-CoA synthase activity