EPB41L4B

erythrocyte membrane protein band 4.1 like 4B, the group of FERM domain containing

Basic information

Region (hg38): 9:109171973-109321059

Links

ENSG00000095203 ∙ NCBI:54566 ∙ OMIM:610340 ∙ HGNC:19818 ∙ Uniprot:Q9H329 ∙ 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 EPB41L4B gene.

• Inborn genetic diseases (33 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPB41L4B 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			32	1		33
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	1	0

Variants in EPB41L4B

This is a list of pathogenic ClinVar variants found in the EPB41L4B region.

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

Position	Type	Phenotype	Significance	ClinVar
9-109174600-A-G		not specified	Uncertain significance (Jul 22, 2022)
9-109176554-G-A		not specified	Uncertain significance (Dec 20, 2021)
9-109176632-G-A		not specified	Likely benign (Aug 22, 2023)
9-109176691-G-C		not specified	Uncertain significance (Feb 06, 2023)
9-109182784-G-A		not specified	Uncertain significance (Sep 06, 2022)
9-109185496-G-A		not specified	Uncertain significance (Oct 05, 2023)
9-109192339-C-T		not specified	Uncertain significance (Aug 02, 2021)
9-109194293-G-A		not specified	Uncertain significance (Dec 28, 2022)
9-109194373-G-T		not specified	Uncertain significance (Feb 16, 2023)
9-109200310-T-A		not specified	Uncertain significance (Sep 22, 2023)
9-109200312-C-T		not specified	Uncertain significance (Apr 18, 2023)
9-109203673-C-T		not specified	Uncertain significance (Apr 25, 2023)
9-109208040-T-C		not specified	Uncertain significance (Jan 23, 2024)
9-109208046-C-T		not specified	Uncertain significance (Jan 04, 2022)
9-109213776-G-T		not specified	Uncertain significance (Jun 21, 2021)
9-109216946-T-C		not specified	Uncertain significance (Jan 31, 2023)
9-109217005-T-C		not specified	Uncertain significance (Aug 04, 2023)
9-109217010-C-A		not specified	Uncertain significance (Jan 19, 2024)
9-109217080-C-T		not specified	Uncertain significance (Aug 26, 2022)
9-109217107-C-T		not specified	Uncertain significance (Nov 29, 2021)
9-109217108-G-A		not specified	Uncertain significance (Feb 06, 2023)
9-109247785-T-C		not specified	Uncertain significance (Jun 29, 2023)
9-109253545-C-T		not specified	Uncertain significance (Nov 09, 2021)
9-109255549-T-G		not specified	Uncertain significance (May 16, 2022)
9-109255571-G-A		not specified	Uncertain significance (Sep 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EPB41L4B	protein_coding	protein_coding	ENST00000374566	26	148990

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000276	124786	0	8	124794	0.0000321

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.25	395	471	0.838	0.0000266	5823
Missense in Polyphen		119	182.4	0.65241		2291
Synonymous	1.26	162	184	0.881	0.0000111	1803
Loss of Function	5.76	6	49.9	0.120	0.00000262	593

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000870	0.0000870
Ashkenazi Jewish	0.0000998	0.0000993
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000265	0.0000265
Middle Eastern	0.00	0.00
South Asian	0.0000333	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Up-regulates the activity of the Rho guanine nucleotide exchange factor ARHGEF18 (By similarity). Involved in the regulation of the circumferential actomyosin belt in epithelial cells (PubMed:22006950). Promotes cellular adhesion, migration and motility in vitro and may play a role in wound healing (PubMed:23664528). May have a role in mediating cytoskeletal changes associated with steroid-induced cell differentiation (PubMed:14521927). {ECO:0000250|UniProtKB:Q9JMC8, ECO:0000269|PubMed:14521927, ECO:0000269|PubMed:22006950, ECO:0000269|PubMed:23664528}.
• Pathway: Tight junction - Homo sapiens (human);Glucocorticoid Receptor Pathway;Nuclear Receptors Meta-Pathway (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.0301
• rvis_EVS: -0.71
• rvis_percentile_EVS: 14.71

Haploinsufficiency Scores

• pHI: 0.565
• hipred: N
• hipred_score: 0.463
• ghis: 0.457

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.190

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Epb41l4b
• Phenotype: hearing/vestibular/ear phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: positive regulation of gene expression;regulation of keratinocyte proliferation;actomyosin structure organization;wound healing;positive regulation of cell adhesion;positive regulation of keratinocyte migration
• Cellular component: cytoplasm;cytosol;cytoskeleton;plasma membrane;bicellular tight junction;apical part of cell
• Molecular function: structural constituent of cytoskeleton;cytoskeletal protein binding