TMEM14A

transmembrane protein 14A, the group of Transmembrane protein 14 family

Basic information

Region (hg38): 6:52671113-52686588

Links

ENSG00000096092 ∙ NCBI:28978 ∙ OMIM:616870 ∙ HGNC:21076 ∙ Uniprot:Q9Y6G1 ∙ 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 TMEM14A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM14A gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in TMEM14A

This is a list of pathogenic ClinVar variants found in the TMEM14A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-52677136-G-A		not specified	Uncertain significance (Sep 17, 2021)
6-52677139-A-T		not specified	Uncertain significance (Jul 19, 2022)
6-52681863-T-A		not specified	Uncertain significance (Jun 18, 2021)
6-52681876-G-A		not specified	Uncertain significance (Aug 29, 2022)
6-52684101-A-G		not specified	Uncertain significance (Mar 05, 2024)
6-52684114-G-A		not specified	Uncertain significance (Jun 07, 2023)
6-52684156-C-T		not specified	Uncertain significance (Aug 17, 2021)
6-52686020-A-T		not specified	Uncertain significance (Mar 11, 2022)
6-52686032-G-C		not specified	Uncertain significance (May 08, 2024)
6-52686033-T-G		not specified	Uncertain significance (Aug 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM14A	protein_coding	protein_coding	ENST00000211314	4	15480

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0234	0.784	125723	0	21	125744	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.635	44	57.6	0.764	0.00000314	626
Missense in Polyphen		12	22.479	0.53382		241
Synonymous	1.16	15	21.9	0.686	0.00000125	212
Loss of Function	0.953	3	5.39	0.557	3.24e-7	63

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000502	0.000502
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits apoptosis via negative regulation of the mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway. {ECO:0000269|PubMed:21723035}.

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.704
• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.64

Haploinsufficiency Scores

• pHI: 0.106
• hipred: N
• hipred_score: 0.398
• ghis: 0.596

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.640

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem14a

Gene ontology

• Biological process: apoptotic process;negative regulation of apoptotic process;negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway
• Cellular component: endoplasmic reticulum membrane;integral component of membrane;mitochondrial membrane
• Molecular function: protein binding