SERTM2

protein-coding

serine rich and transmembrane domain containing 2

Gene summary

Predicted to be involved in nervous system development. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

LINC00890

MANE transcript

NM_001354473.2

Inheritance

—

ClinVar variants

B:2

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chrX:111,511,645-111,522,399

External References & Databases

Ensembl (ENSG00000260802)

Transcript & Mutation Effects

hg38 • Region Span ~10.8 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 SERTM2 variants in ClinVar

1 Conditions Cataloged

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001354473.2. 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				1 clinvar		1
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	2	0	2

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001354473.2	RefSeq	NP_001341402.1	1	MANE Select
ENST00000569275.2	Ensembl	ENSP00000490917.2	1	MANE Select
ENST00001132334.1	Ensembl	ENSP00000814956.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

integral component of membrane

dbNSFP Gene Annotations

Source: dbNSFP