Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	113444
Gene name	Small integral membrane protein 12
Gene symbol	SMIM12
Synonyms (NCBI Gene)	C1orf212
Chromosome	1
Chromosome location	1p34.3

Show/Hide all (57)

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
MIRT482869	hsa-miR-153-5p	HITS-CLIP	23313552
MIRT482867	hsa-miR-2276-5p	HITS-CLIP	23313552
MIRT482868	hsa-miR-518c-5p	HITS-CLIP	23313552
MIRT276760	hsa-miR-6798-3p	HITS-CLIP	23313552
MIRT482866	hsa-miR-5696	HITS-CLIP	23313552
MIRT482865	hsa-miR-579-3p	HITS-CLIP	23313552
MIRT482864	hsa-miR-664b-3p	HITS-CLIP	23313552
MIRT482863	hsa-miR-516b-5p	HITS-CLIP	23313552
MIRT340568	hsa-miR-2681-5p	HITS-CLIP	23313552
MIRT683562	hsa-miR-4676-5p	HITS-CLIP	23313552
MIRT683561	hsa-miR-575	HITS-CLIP	23313552
MIRT683560	hsa-miR-4755-3p	HITS-CLIP	23313552
MIRT683559	hsa-miR-6722-5p	HITS-CLIP	23313552
MIRT683558	hsa-miR-4662a-5p	HITS-CLIP	23313552
MIRT482871	hsa-miR-4640-3p	PAR-CLIP	23592263
MIRT482870	hsa-miR-1250-3p	PAR-CLIP	23592263
MIRT482869	hsa-miR-153-5p	PAR-CLIP	23592263
MIRT482867	hsa-miR-2276-5p	PAR-CLIP	23592263
MIRT482868	hsa-miR-518c-5p	PAR-CLIP	23592263
MIRT276760	hsa-miR-6798-3p	PAR-CLIP	23592263
MIRT482866	hsa-miR-5696	PAR-CLIP	23592263
MIRT482865	hsa-miR-579-3p	PAR-CLIP	23592263
MIRT482864	hsa-miR-664b-3p	PAR-CLIP	23592263
MIRT482863	hsa-miR-516b-5p	PAR-CLIP	23592263
MIRT340568	hsa-miR-2681-5p	PAR-CLIP	23592263
MIRT482871	hsa-miR-4640-3p	HITS-CLIP	23313552
MIRT482870	hsa-miR-1250-3p	HITS-CLIP	23313552
MIRT482869	hsa-miR-153-5p	HITS-CLIP	23313552
MIRT482867	hsa-miR-2276-5p	HITS-CLIP	23313552
MIRT482868	hsa-miR-518c-5p	HITS-CLIP	23313552
MIRT276760	hsa-miR-6798-3p	HITS-CLIP	23313552
MIRT482866	hsa-miR-5696	HITS-CLIP	23313552
MIRT482865	hsa-miR-579-3p	HITS-CLIP	23313552
MIRT482864	hsa-miR-664b-3p	HITS-CLIP	23313552
MIRT482863	hsa-miR-516b-5p	HITS-CLIP	23313552
MIRT340568	hsa-miR-2681-5p	HITS-CLIP	23313552
MIRT683562	hsa-miR-4676-5p	HITS-CLIP	23313552
MIRT683561	hsa-miR-575	HITS-CLIP	23313552
MIRT683560	hsa-miR-4755-3p	HITS-CLIP	23313552
MIRT683559	hsa-miR-6722-5p	HITS-CLIP	23313552
MIRT683558	hsa-miR-4662a-5p	HITS-CLIP	23313552
MIRT482871	hsa-miR-4640-3p	PAR-CLIP	23592263
MIRT482870	hsa-miR-1250-3p	PAR-CLIP	23592263
MIRT482869	hsa-miR-153-5p	PAR-CLIP	23592263
MIRT482867	hsa-miR-2276-5p	PAR-CLIP	23592263
MIRT482868	hsa-miR-518c-5p	PAR-CLIP	23592263
MIRT276760	hsa-miR-6798-3p	PAR-CLIP	23592263
MIRT482866	hsa-miR-5696	PAR-CLIP	23592263
MIRT482865	hsa-miR-579-3p	PAR-CLIP	23592263
MIRT482864	hsa-miR-664b-3p	PAR-CLIP	23592263
MIRT482863	hsa-miR-516b-5p	PAR-CLIP	23592263
MIRT340568	hsa-miR-2681-5p	PAR-CLIP	23592263

Show/Hide all (3)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0016020	Component	Membrane	IEA

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

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

MWPVFWTVVRTYAPYVTFPVAFVVGAVGYHLEWFIRGKDPQPVEEEKSISERREDRKLDE
LLGKDHTQVVSLKDKLEFAPKAVLNRNRPEKN

Sequence length

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NARCOLEPSY-CATAPLEXY SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Deafness, Autosomal Dominant 2B	Deafness	CLINVAR_DG	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	CLINVAR_DG	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)	Deafness	CLINVAR_DG	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)	DEAFNESS, DIGENIC	CLINVAR_DG	★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	CLINVAR_DG	★★★★★ ★☆☆☆☆ Found in Text Mining only
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1	Erythrokeratodermia Variabilis Et Progressiva	CLINVAR_DG	★★★★★ ★☆☆☆☆ Found in Text Mining only
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2	Erythrokeratodermia Variabilis Et Progressiva	CLINVAR_DG	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINVAR_DG	★★★★★ ★☆☆☆☆ Found in Text Mining only

SMIM12 (small integral membrane protein 12)