LAMB4

protein-coding

laminin subunit beta 4, the group of Laminin subunits

Gene summary

Predicted to be an extracellular matrix structural constituent. Predicted to be involved in substrate adhesion-dependent cell spreading. Predicted to be located in extracellular region. Predicted to be part of laminin-121 trimer. Predicted to be active in basement membrane and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_007356.3

Inheritance

—

ClinVar variants

U:243B:38

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.83

Max pathogenic AF

—

Genomic locus

chr7:108,023,548-108,130,361

External References & Databases

Ensembl (ENSG00000091128)

Transcript & Mutation Effects

hg38 • Region Span ~106.8 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 LAMB4 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 253

not providedTotal: 26

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_007356.3. 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				4 clinvar	12 clinvar	16
missense			238 clinvar	17 clinvar	3 clinvar	258
nonsense						0
start loss						0
frameshift					1 clinvar	1
splice donor/acceptor (+/-2bp)			5 clinvar		1 clinvar	6
Total	0	0	243	21	17	281

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_007356.3	RefSeq	NP_031382.2	33	MANE Select
ENST00000388781.8	Ensembl	ENSP00000373433.3	33	MANE Select
NM_001318046.2	RefSeq	NP_001304975.1	33	Standard
NM_001318047.2	RefSeq	NP_001304976.1	22	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

PI3K-Akt signaling pathway - Homo sapiens (human)
ECM-receptor interaction - Homo sapiens (human)
Focal adhesion - Homo sapiens (human)
Small cell lung cancer - Homo sapiens (human)
Amoebiasis - Homo sapiens (human)

Biological Process

cell adhesion

Cellular Component

basement membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000388781
Coding exons: 33
Length: 106809
Individuals with no LoFs: 125256
Homozygous LoFs: 6
Heterozygous LoFs: 486
Defined: 125748
p: 0.00196

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.146	974	961	1.01	0.0000518	11554
Missense (PolyPhen)		273	282.06	0.96787		3526
Synonymous	1.29	327	358	0.913	0.0000203	3272
Loss of Function	1.48	73	88.0	0.830	0.00000444	1106

Population LoF Frequency

Population	CAF	p-value	Status
African	0.017	0.017	notable
Latino/Admixed American	0.0012	0.0011	notable
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.0014	0.0014	notable
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00097	0.00096	rare
South Asian	0.0014	0.0012	notable
Other	0.00066	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.;

Recessive Scores

pRec: 0.261

Intolerance Scores

LoFtool: 0.899
RVIS EVS: -1.55
RVIS percentile EVS: 3.24

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.353

Gene Damage Prediction

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