EPB41L4B

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

Basic information

Region (hg38): 9:109171974-109321059

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.

not_specified (102 variants)
not_provided (2 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. These statistics are base on transcript: NM_000019114.5. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			99 clinvar	2 clinvar		101
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	100	3	0

Loading clinvar variants...

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