TMEM201

protein-coding

transmembrane protein 201

Gene summary

Predicted to enable actin filament binding activity and lamin binding activity. Involved in several processes, including centrosome localization; positive regulation of endothelial cell migration; and protein localization to nuclear envelope. Located in cortical endoplasmic reticulum; nucleus; and spindle pole centrosome. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001130924.3

Inheritance

—

ClinVar variants

U:111B:15

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.11

Max pathogenic AF

—

Genomic locus

chr1:9,588,911-9,614,877

External References & Databases

Ensembl (ENSG00000188807)

Transcript & Mutation Effects

hg38 • Region Span ~26.0 kb

Loading mutation effect viewer...

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 TMEM201 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 111

not providedTotal: 12

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001130924.3. 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 clinvar	4 clinvar	6
missense			104 clinvar	7 clinvar	3 clinvar	114
nonsense						0
start loss						0
frameshift			3 clinvar			3
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	111	8	7	126

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 26 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001130924.3	RefSeq	NP_001124396.2	11	MANE Select
ENST00000340381.11	Ensembl	ENSP00000344503.6	11	MANE Select
NM_001010866.4	RefSeq	NP_001010866.1	6	Standard
ENST00000340305.10	Ensembl	ENSP00000344772.5	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

fibroblast migration
nuclear migration along microtubule

Molecular Function

lamin binding
actin filament binding

Cellular Component

spindle pole
integral component of nuclear inner membrane
cytoplasm
nuclear membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000340381
Coding exons: 11
Length: 26004
Individuals with no LoFs: 125507
Homozygous LoFs: 0
Heterozygous LoFs: 6
Defined: 125513
p: 0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.33	350	427	0.819	0.0000296	4211
Missense (PolyPhen)		145	180.68	0.80254		1818
Synonymous	0.315	197	203	0.972	0.0000148	1483
Loss of Function	4.29	3	27.1	0.111	0.00000144	292

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	0.00016	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000093	0.0000088	rare
South Asian	0.000066	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Involved in nuclear movement during fibroblast polarization and migration. Proposed to be involved in actin- dependent nuclear movement via association with transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow (By similarity). Overexpression can recruit Ran GTPase to the nuclear periphery (PubMed:27541860). {ECO:0000250|UniProtKB:A2A8U2, ECO:0000305|PubMed:27541860}.;

Intolerance Scores

LoFtool: 0.0119
RVIS EVS: 0.04
RVIS percentile EVS: 57.41

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.473

Gene Damage Prediction

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