SMCO2 (single-pass membrane protein with coiled-coil domains 2)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
341346
Gene name Gene Name - the full gene name approved by the HGNC.
Single-pass membrane protein with coiled-coil domains 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMCO2
Synonyms (NCBI Gene) Gene synonyms aliases
C12orf70
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p11.23
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
GO ID Ontology Definition Evidence Reference
GO:0016020 Component Membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID A6NFE2
Protein name Single-pass membrane and coiled-coil domain-containing protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14992 TMCO5 11 → 342 TMCO5 family Family
Sequence
Sequence length 343
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 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
Hyperopia Hyperopia N/A N/A GWAS