TMEM92 (transmembrane protein 92)

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Gene Gene information from NCBI Gene database.
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Entrez ID 162461
Gene name Transmembrane protein 92
Gene symbol TMEM92
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q21.33
SNPs SNP information provided by dbSNP.
1
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SNP ID Visualize variation Clinical significance Consequence
rs730882247 A>G Likely-pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
71 Show/Hide all (71)
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miRTarBase ID miRNA Experiments Reference
MIRT652361 hsa-miR-5196-3p HITS-CLIP 23824327
MIRT652360 hsa-miR-6814-5p HITS-CLIP 23824327
MIRT652359 hsa-miR-150-5p HITS-CLIP 23824327
MIRT652358 hsa-miR-532-3p HITS-CLIP 23824327
MIRT652357 hsa-miR-2116-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IBA
GO:0005654 Component Nucleoplasm IDA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
619604 26579 ENSG00000167105
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UXU6
Protein name Transmembrane protein 92
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11669 WBP-1 32 → 141 WW domain-binding protein 1 Family
Sequence 
MSQAWVPGLAPTLLFSLLAGPQKIAAKCGLILACPKGFKCCGDSCCQENELFPGPVRIFV
IIFLVILSVFCICGLAKCFCRNCREPEPDSPVDCRGPLELPSIIPPERVRVSLSAPPPPY
SEVILKPSLGPTPTEPPPPYSFRPEEYTGDQRGIDNPAF
Sequence length 159
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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
Bilateral squint Likely pathogenic rs730882247 RCV000162187
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar atrophy Likely pathogenic rs730882247 RCV000162187
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Likely pathogenic rs730882247 RCV000162187
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus Likely pathogenic rs730882247 RCV000162187
★★★★★
★★★★☆
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 Reference Evidence Score
NERVOUS SYSTEM DISORDER — Disgenet, GenCC
Disgenet, GenCC 		—
★★★★★
★★☆☆☆
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
Cerebellar atrophy Cerebellar atrophy CLINVAR_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Developmental Delay CLINVAR_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus Hydrocephalus CLINVAR_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sort by:
SKOR2 1 shared diseaseNervous system disease 2 shared evidence sourcesDisgenet (Nervous system disease), GenCC (Nervous system disease) Related via 1 shared disease including Nervous system disease — evidence mostly Disgenet. TOMM70 1 shared diseaseNervous system disease 2 shared evidence sourcesDisgenet (Nervous system disease), GenCC (Nervous system disease) Related via 1 shared disease including Nervous system disease — evidence mostly Disgenet. PNPLA6 2 shared diseasesCerebellar atrophy, Nervous system disease 2 shared evidence sourcesDisgenet (Cerebellar atrophy), Disgenet (Nervous system disease) Related via 2 shared diseases including Cerebellar atrophy, Nervous system disease — evidence mostly Disgenet.
Dysarthria Linked via 2 of 3 related genesSKOR2, PNPLA6 Alzheimer disease Linked via 1 of 3 related genesSKOR2 Metabolic syndrome Linked via 1 of 3 related genesSKOR2 Intellectual disability Linked via 1 of 3 related genesSKOR2 Diabetes mellitus type 2 Linked via 1 of 3 related genesSKOR2