Gene Gene information from NCBI Gene database.
Entrez ID 84908
Gene name Family with sequence similarity 136 member A
Gene symbol FAM136A
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p13.3
Summary This gene encodes a mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial epithelium of the cristaampullaris. A mutation in this ge
miRNA miRNA information provided by mirtarbase database.
408
miRTarBase ID miRNA Experiments Reference
MIRT026311 hsa-miR-192-5p Sequencing 20371350
MIRT029130 hsa-miR-26b-5p Sequencing 20371350
MIRT052030 hsa-let-7b-5p CLASH 23622248
MIRT049500 hsa-miR-92a-3p CLASH 23622248
MIRT712504 hsa-miR-490-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616275 25911 ENSG00000035141
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96C01
Protein name Protein FAM136A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05811 DUF842 5 132 Eukaryotic protein of unknown function (DUF842) Family
Sequence
Sequence length 138
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
Meniere disease Pathogenic rs690016537 RCV000149519
★★★★☆
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
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAM136A-related disorder Uncertain significance; Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME 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
Meniere Disease Meniere Disease GENOMICS_ENGLAND_DG 25305078
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myasthenia Gravis Myasthenia Gravis BEFREE 30696470
★☆☆☆☆
Found in Text Mining only
Myasthenia Gravis Myasthenia gravis Pubtator 30696470 Associate
★☆☆☆☆
Found in Text Mining only
Ophthalmoplegia Ophthalmoplegia Pubtator 30696470 Associate
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 28559012 Associate
★☆☆☆☆
Found in Text Mining only