TMEM43 (transmembrane protein 43)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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79188 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Transmembrane protein 43 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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TMEM43 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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ARVC5, ARVD5, AUNA3, EDMD7, EDMD7; AUNA2, LUMA |
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Chromosome
Chromosome number
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3 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3p25.1 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricula |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||
| UniProt ID | Q9BTV4 | ||||||||||
| Protein name | Transmembrane protein 43 (Protein LUMA) | ||||||||||
| Protein function | May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). Plays a role in the modulation of in | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis. {ECO:0000269|PubMed:18230648}. | ||||||||||
| Sequence |
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| Sequence length | 400 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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