TMEM214

transmembrane protein 214

Basic information

Region (hg38): 2:27032910-27041694

Links

ENSG00000119777 ∙ NCBI:54867 ∙ OMIM:615301 ∙ HGNC:25983 ∙ Uniprot:Q6NUQ4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TMEM214 gene.

• not_specified (83 variants)
• not_provided (5 variants)
• Autism (1 variants)
• Flexion_contracture (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM214 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017727.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense			85	1	1	87
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	85	1	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM214	protein_coding	protein_coding	ENST00000238788	17	8786

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.50e-10	0.992	124758	0	46	124804	0.000184

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.731	313	352	0.890	0.0000195	4437
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000468	0.000468
Ashkenazi Jewish	0.00	0.00
East Asian	0.000389	0.000389
Finnish	0.000510	0.000510
European (Non-Finnish)	0.0000795	0.0000794
Middle Eastern	0.000389	0.000389
South Asian	0.000294	0.000294
Other	0.00	0.00

dbNSFP

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

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.414
• ghis: 0.553

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.506

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem214

Gene ontology

• Biological process: apoptotic process
• Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane;Golgi apparatus;cytosol;cytoplasmic microtubule;integral component of membrane