Gene Gene information from NCBI Gene database.
Entrez ID 256472
Gene name Transmembrane protein 151A
Gene symbol TMEM151A
Synonyms (NCBI Gene)
DYT36EKD3TMEM151
Chromosome 11
Chromosome location 11q13.2
miRNA miRNA information provided by mirtarbase database.
130
miRTarBase ID miRNA Experiments Reference
MIRT718487 hsa-miR-4722-3p HITS-CLIP 19536157
MIRT718486 hsa-miR-6727-3p HITS-CLIP 19536157
MIRT718485 hsa-miR-6747-3p HITS-CLIP 19536157
MIRT718484 hsa-miR-3653-5p HITS-CLIP 19536157
MIRT718483 hsa-miR-1976 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005783 Component Endoplasmic reticulum IMP 34518509
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0016020 Component Membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620108 28497 ENSG00000179292
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N4L1
Protein name Transmembrane protein 151A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14857 TMEM151 26 373 TMEM151 family Family
Sequence
Sequence length 468
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Episodic kinesigenic dyskinesia 3 Pathogenic rs1229777829, rs2495260968, rs138482881, rs2495261927, rs2495261382, rs1857487337, rs1857505875, rs2495260613, rs916841534 RCV003152480
RCV003152481
RCV003152482
RCV003152483
RCV003152484
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPISODIC KINESIGENIC DYSKINESIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma Pubtator 37259023 Associate
★☆☆☆☆
Found in Text Mining only
Familial paroxysmal dystonia Paroxysmal dystonia Pubtator 39454747 Associate
★☆☆☆☆
Found in Text Mining only
Polycystic Ovary Syndrome Polycystic Ovary Syndrome CTD_human_DG 21411543
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sclerocystic Ovaries Sclerocystic Ovaries CTD_human_DG 21411543
★☆☆☆☆
Found in Text Mining only