TMEM114 (transmembrane protein 114)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 283953
Gene name Transmembrane protein 114
Gene symbol TMEM114
Synonyms (NCBI Gene)
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Chromosome 16
Chromosome location 16p13.2
Summary This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with congenital and juvenile cataract disorders. Alternative spli
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Gene ontology Other IDs Protein Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT2461626 hsa-miR-1224-5p CLIP-seq
MIRT2461627 hsa-miR-1304 CLIP-seq
MIRT2461628 hsa-miR-3185 CLIP-seq
MIRT2461629 hsa-miR-3915 CLIP-seq
MIRT2461630 hsa-miR-3928 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IEA
GO:0005923 Component Bicellular tight junction IEA
GO:0016020 Component Membrane IEA
GO:0016324 Component Apical plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611579 33227 ENSG00000232258
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
B3SHH9
Protein name Transmembrane protein 114 (Claudin-26)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13903 Claudin_2 17 → 208 PMP-22/EMP/MP20/Claudin tight junction Family
Sequence
Sequence length 223
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Associated diseases
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Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
TMEM114-related disorder Likely benign rs1902422735, rs2505945151 RCV003897429
RCV003966977