Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84908
Gene name Gene Name - the full gene name approved by the HGNC.
Family with sequence similarity 136 member A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FAM136A
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616275 25911 ENSG00000035141
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Meniere Disease meniere disease rs690016537 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Myasthenia Gravis Associate 30696470
Ophthalmoplegia Associate 30696470
Squamous Cell Carcinoma of Head and Neck Associate 28559012