ENAH

ENAH actin regulator, the group of ENAH/VASPs

Basic information

Region (hg38): 1:225486764-225653142

Links

ENSG00000154380 ∙ NCBI:55740 ∙ OMIM:609061 ∙ HGNC:18271 ∙ Uniprot:Q8N8S7 ∙ 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 ENAH gene.

• Inborn genetic diseases (14 variants)
• not provided (6 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENAH 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				1		1
missense			14	1		15
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region				2	1	3
non coding					1	1
Total	0	0	14	2	2

Variants in ENAH

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

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

Position	Type	Phenotype	Significance	ClinVar
1-225498336-CA-C			Benign (Dec 31, 2019)
1-225507964-G-A		not specified	Uncertain significance (Aug 22, 2023)
1-225512688-G-A		not specified	Uncertain significance (May 24, 2023)
1-225512916-C-G		not specified	Uncertain significance (May 04, 2022)
1-225512970-T-G		not specified	Uncertain significance (Sep 17, 2021)
1-225514636-G-A		not specified	Uncertain significance (Jul 09, 2021)
1-225514661-C-G		not specified	Uncertain significance (Sep 17, 2021)
1-225514768-G-A		not specified	Uncertain significance (Sep 16, 2021)
1-225514778-C-A		not specified	Uncertain significance (Jun 29, 2023)
1-225514872-T-G			Likely benign (Apr 04, 2018)
1-225514886-G-A		not specified	Uncertain significance (Jun 06, 2022)
1-225514888-C-A		not specified	Uncertain significance (Nov 09, 2023)
1-225517225-G-A		not specified	Uncertain significance (Oct 25, 2023)
1-225517276-T-C		not specified	Uncertain significance (Dec 20, 2023)
1-225517285-G-A		not specified	Uncertain significance (Mar 02, 2023)
1-225519206-G-A			Likely benign (Apr 23, 2018)
1-225519323-C-A		not specified	Uncertain significance (Mar 05, 2024)
1-225519325-C-A		not specified	Uncertain significance (Jan 26, 2022)
1-225519331-ATCCAGGCGTTCCTGCCGC-A			Benign (Dec 31, 2019)
1-225519347-C-T		not specified	Uncertain significance (May 24, 2023)
1-225519402-G-A		not specified	Uncertain significance (Feb 10, 2023)
1-225519528-G-A		not specified	Uncertain significance (Feb 26, 2024)
1-225519564-G-T		not specified	Uncertain significance (Feb 05, 2024)
1-225519569-G-A			Likely benign (Dec 31, 2019)
1-225519569-GA-G		not specified	Benign (Jul 17, 2015)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENAH	protein_coding	protein_coding	ENST00000366844	15	166308

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000577	125739	0	8	125747	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.74	228	315	0.725	0.0000177	3768
Missense in Polyphen		59	87.341	0.67552		1089
Synonymous	0.206	107	110	0.975	0.00000531	1179
Loss of Function	5.29	2	36.5	0.0548	0.00000199	421

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000723	0.0000439
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. ENAH induces the formation of F-actin rich outgrowths in fibroblasts. Acts synergistically with BAIAP2-alpha and downstream of NTN1 to promote filipodia formation (By similarity). {ECO:0000250, ECO:0000269|PubMed:11696321, ECO:0000269|PubMed:18158903}.
• Pathway: Regulation of actin cytoskeleton - Homo sapiens (human);Axon guidance - Homo sapiens (human);Regulation of Actin Cytoskeleton;Developmental Biology;Generation of second messenger molecules;TCR signaling;TCR;Immune System;Adaptive Immune System;Signaling by ROBO receptors;Axon guidance;Stabilization and expansion of the E-cadherin adherens junction;CDC42 signaling events;E-cadherin signaling in the nascent adherens junction (Consensus)

Intolerance Scores

• loftool: 0.180
• rvis_EVS: -0.62
• rvis_percentile_EVS: 17.16

Haploinsufficiency Scores

• pHI: 0.977
• hipred: Y
• hipred_score: 0.819
• ghis: 0.570

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.753

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Enah
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); embryo phenotype

Gene ontology

• Biological process: axon guidance
• Cellular component: cytosol;cytoskeleton;plasma membrane;focal adhesion;lamellipodium;cell junction;filopodium;synapse
• Molecular function: actin binding;protein binding;SH3 domain binding;WW domain binding