TMEM35A

protein-coding

transmembrane protein 35A

Gene summary

Enables acetylcholine receptor regulator activity. Involved in chaperone-mediated protein complex assembly and positive regulation of protein localization to cell surface. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

TMEM35

MANE transcript

NM_021637.3

Inheritance

—

ClinVar variants

U:4B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chrX:101,078,879-101,096,367

External References & Databases

Ensembl (ENSG00000126950)

Transcript & Mutation Effects

hg38 • Region Span ~17.5 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 TMEM35A variants in ClinVar

1 Conditions Cataloged

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_021637.3. 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			2 clinvar	1 clinvar		3
missense			1 clinvar			1
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	4	1	0	5

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_021637.3	RefSeq	NP_067650.1	2	MANE Select
ENST00000372930.5	Ensembl	ENSP00000362021.4	2	MANE Select
ENST00001097824.1	Ensembl	ENSP00000767630.1	3	Standard
ENST00001133469.1	Ensembl	ENSP00000810128.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

molecular_function

Cellular Component

cellular_component
peroxisomal membrane
integral component of membrane
cytoplasmic vesicle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000372930
Coding exons: 2
Length: 17645
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.07	45	70.2	0.641	0.00000577	1061
Missense (PolyPhen)		13	26.368	0.49302		468
Synonymous	0.592	24	28.0	0.858	0.00000206	379
Loss of Function	1.73	0	3.49	0.00	3.50e-7	51

Population LoF Frequency

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

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: A soluble peptide released by shedding may interact with NGFR and modulate neurite outgrowth. {ECO:0000250}.;

Intolerance Scores

RVIS EVS: 0.01
RVIS percentile EVS: 54.63

Essentials

Essential (gene trap): N