EPB41L4B

protein-coding

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

Gene summary

Predicted to be a structural constituent of cytoskeleton. Involved in several processes, including positive regulation of cell adhesion; positive regulation of keratinocyte migration; and wound healing. Acts upstream of or within actomyosin structure organization. Located in apical part of cell and cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_019114.5

Inheritance

—

ClinVar variants

U:122B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.12

Max pathogenic AF

—

Genomic locus

chr9:109,171,974-109,321,059

External References & Databases

Ensembl (ENSG00000095203)

Transcript & Mutation Effects

hg38 • Region Span ~149.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to EPB41L4B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 110

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_019114.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	1 clinvar		3
missense			109 clinvar	2 clinvar		111
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			10 clinvar			10
Total	0	0	122	3	0	125

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 37 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_019114.5	RefSeq	NP_061987.3	26	MANE Select
ENST00000374566.8	Ensembl	ENSP00000363694.3	26	MANE Select
NM_001385623.1	RefSeq	NP_001372552.1	25	Standard
NM_018424.3	RefSeq	NP_060894.2	16	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Tight junction - Homo sapiens (human)
Glucocorticoid Receptor Pathway
Nuclear Receptors Meta-Pathway

Biological Process

positive regulation of gene expression
regulation of keratinocyte proliferation
actomyosin structure organization
wound healing
positive regulation of cell adhesion

Molecular Function

structural constituent of cytoskeleton
cytoskeletal protein binding

Cellular Component

cytoplasm
cytosol
cytoskeleton
plasma membrane
bicellular tight junction

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000374566
Coding exons: 26
Length: 148990
Individuals with no LoFs: 124786
Homozygous LoFs: 0
Heterozygous LoFs: 8
Defined: 124794
p: 0.0000321

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.25	395	471	0.838	0.0000266	5823
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000027	0.000026	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.107

Intolerance Scores

LoFtool: 0.0301
RVIS EVS: -0.71
RVIS percentile EVS: 14.71

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.190

Gene Damage Prediction

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