Gene Gene information from NCBI Gene database.
Entrez ID 54867
Gene name Transmembrane protein 214
Gene symbol TMEM214
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p23.3
miRNA miRNA information provided by mirtarbase database.
189
miRTarBase ID miRNA Experiments Reference
MIRT051346 hsa-miR-15a-5p CLASH 23622248
MIRT491476 hsa-miR-634 PAR-CLIP 23592263
MIRT491477 hsa-miR-2392 PAR-CLIP 23592263
MIRT491475 hsa-miR-4802-5p PAR-CLIP 23592263
MIRT491473 hsa-miR-4457 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005794 Component Golgi apparatus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615301 25983 ENSG00000119777
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6NUQ4
Protein name Transmembrane protein 214
Protein function Critical mediator, in cooperation with CASP4, of endoplasmic reticulum-stress induced apoptosis. Required or the activation of CASP4 following endoplasmic reticulum stress.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10151 TMEM214 8 684 TMEM214, C-terminal, caspase 4 activator Family
Sequence
Sequence length 689
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANXIETY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Flexion contracture Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations