Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
113444
Gene name Gene Name - the full gene name approved by the HGNC.
Small integral membrane protein 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMIM12
Synonyms (NCBI Gene) Gene synonyms aliases
C1orf212
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023086 hsa-miR-124-3p Microarray 18668037
MIRT048730 hsa-miR-96-5p CLASH 23622248
MIRT038325 hsa-miR-130b-5p CLASH 23622248
MIRT482871 hsa-miR-4640-3p HITS-CLIP 23313552
MIRT482870 hsa-miR-1250-3p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0016021 Component Integral component of membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID Q96EX1
Protein name Small integral membrane protein 12
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15990 UPF0767 1 87 UPF0767 family Family
Sequence
Sequence length 92
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Deafness DEAFNESS, AUTOSOMAL RECESSIVE (disorder), DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder), Deafness, Autosomal Dominant 2B rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822
View all (1019 more)
Deafness, digenic DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) rs121908851, rs80338939, rs80338943
Erythrokeratodermia variabilis Erythrokeratodermia variabilis rs1114167450, rs1114167451, rs752611378, rs1114167452
Erythrokeratodermia variabilis et progressiva ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 rs80358207, rs80358206, rs80358210, rs80358211, rs80358213, rs74315315, rs74315316, rs74315317, rs74315321, rs28937583
Unknown
Disease term Disease name Evidence References Source
Narcolepsy Narcolepsy GWAS