TMEM214

protein-coding

transmembrane protein 214

Gene summary

Predicted to be involved in apoptotic process. Located in cytoplasmic microtubule and endoplasmic reticulum. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_017727.5

Inheritance

—

ClinVar variants

U:104B:5

Top phenotype

Autism

gnomAD constraint

pLI —, LoF o/e 0.56

Max pathogenic AF

—

Genomic locus

chr2:27,032,910-27,041,694

External References & Databases

Ensembl (ENSG00000119777)

Transcript & Mutation Effects

hg38 • Region Span ~8.8 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 TMEM214 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 94

not providedTotal: 5

AutismTotal: 1

Flexion contractureTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_017727.5. 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	2
missense			99 clinvar	2 clinvar	1 clinvar	102
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	104	2	3	109

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 42 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_017727.5	RefSeq	NP_060197.4	17	MANE Select
ENST00000238788.14	Ensembl	ENSP00000238788.9	17	MANE Select
NM_001083590.2	RefSeq	NP_001077059.1	16	Standard
ENST00000321326.11	Ensembl	ENSP00000319469.7	17	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

apoptotic process

Cellular Component

endoplasmic reticulum
endoplasmic reticulum membrane
Golgi apparatus
cytosol
cytoplasmic microtubule

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000238788
Coding exons: 17
Length: 8786
Individuals with no LoFs: 124758
Homozygous LoFs: 0
Heterozygous LoFs: 46
Defined: 124804
p: 0.000184

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.731	313	352	0.890	0.0000195	4437
Missense (PolyPhen)		137	163.1	0.83997		2011
Synonymous	-0.951	160	145	1.10	0.00000784	1412
Loss of Function	2.51	21	37.6	0.558	0.00000197	413

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00032	0.00032	rare
Latino/Admixed American	0.00014	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00039	0.00039	rare
Finnish	0.00051	0.00051	rare
European (Non-Finnish)	0.000079	0.000079	rare
South Asian	0.00029	0.00029	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Critical mediator, in cooperation with CASP4, of endoplasmic reticulum-stress induced apoptosis. Required or the activation of CASP4 following endoplasmic reticulum stress. {ECO:0000269|PubMed:23661706}.;

Recessive Scores

pRec: 0.103

Intolerance Scores

LoFtool: 0.299
RVIS EVS: -0.46
RVIS percentile EVS: 23.57

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.506

Gene Damage Prediction

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