TMEM114 (transmembrane protein 114)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
283953
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane protein 114
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMEM114
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611579 33227 ENSG00000232258
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS