MXRA8

protein-coding

matrix remodeling associated 8, the group of V-set domain containing

Gene summary

Predicted to be involved in establishment of glial blood-brain barrier. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_032348.4

Inheritance

—

ClinVar variants

P:1U:86B:15

Top phenotype

MXRA8-related disorder

gnomAD constraint

pLI —, LoF o/e 0.71

Max pathogenic AF

—

Genomic locus

chr1:1,352,689-1,361,777

External References & Databases

Ensembl (ENSG00000162576)

Transcript & Mutation Effects

hg38 • Region Span ~9.1 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 MXRA8 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 82

MXRA8-related disorderTotal: 11

not providedTotal: 2

Abnormal brain morphologyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032348.4. 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	7 clinvar	1 clinvar	9
missense		1 clinvar	82 clinvar	5 clinvar	2 clinvar	90
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	1	86	12	3	102

Highest pathogenic variant AF is 6.861233e-7

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 22 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032348.4	RefSeq	NP_115724.1	10	MANE Select
ENST00000309212.11	Ensembl	ENSP00000307887.6	10	MANE Select
NM_001282582.2	RefSeq	NP_001269511.1	10	Standard
NM_001282583.2	RefSeq	NP_001269512.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Post-translational protein phosphorylation
Post-translational protein modification
Metabolism of proteins
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)

Biological Process

viral process
post-translational protein modification
cellular protein metabolic process
establishment of glial blood-brain barrier

Molecular Function

molecular_function

Cellular Component

endoplasmic reticulum lumen
cell surface
integral component of membrane
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000309212
Coding exons: 10
Length: 9089
Individuals with no LoFs: 125387
Homozygous LoFs: 0
Heterozygous LoFs: 19
Defined: 125406
p: 0.0000758

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.05	208	255	0.815	0.0000167	2748
Missense (PolyPhen)		73	113.37	0.6439		1264
Synonymous	-1.51	143	122	1.17	0.00000895	928
Loss of Function	1.15	13	18.3	0.711	8.41e-7	221

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000064	0.000062	rare
Latino/Admixed American	0.000059	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000059	0.000054	rare
Finnish	0.000097	0.000092	rare
European (Non-Finnish)	0.000087	0.000080	rare
South Asian	0.00013	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in the maturation and maintenance of blood-brain barrier. {ECO:0000250}.;

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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