GMFB

protein-coding

glia maturation factor beta

Gene summary

Predicted to enable Arp2/3 complex binding activity. Predicted to be involved in actin filament debranching and negative regulation of Arp2/3 complex-mediated actin nucleation. Predicted to act upstream of or within learning and locomotory behavior. Predicted to be active in cortical actin cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_004124.3

Inheritance

—

ClinVar variants

U:13B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.51

Max pathogenic AF

—

Genomic locus

chr14:54,474,484-54,489,025

External References & Databases

Ensembl (ENSG00000197045)

Transcript & Mutation Effects

hg38 • Region Span ~14.5 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 GMFB variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 13

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004124.3. 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				1 clinvar		1
missense			12 clinvar			12
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	13	1	0	14

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004124.3	RefSeq	NP_004115.1	7	MANE Select
ENST00000358056.8	Ensembl	ENSP00000350757.3	7	MANE Select
ENST00000553333.1	Ensembl	ENSP00000451920.1	7	Standard
ENST00000554247.5	Ensembl	ENSP00000451473.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein phosphorylation
negative regulation of protein kinase activity
signal transduction
nervous system development
learning

Molecular Function

actin binding
protein kinase inhibitor activity
enzyme activator activity
growth factor activity
Arp2/3 complex binding

Cellular Component

actin cortical patch

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000358056
Coding exons: 7
Length: 14713
Individuals with no LoFs: 125711
Homozygous LoFs: 0
Heterozygous LoFs: 6
Defined: 125717
p: 0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.31	44	76.2	0.578	0.00000429	931
Missense (PolyPhen)		7	26.635	0.26281		316
Synonymous	-1.26	33	25.0	1.32	0.00000138	239
Loss of Function	1.44	5	9.88	0.506	5.15e-7	125

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000036	0.000035	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: This protein causes differentiation of brain cells, stimulation of neural regeneration, and inhibition of proliferation of tumor cells.;

Recessive Scores

pRec: 0.192

Intolerance Scores

LoFtool: 0.178
RVIS EVS: -0.01
RVIS percentile EVS: 52.85

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.733

Gene Damage Prediction

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