FAM136A - family with sequence similarity 136 member A Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84908

About FAM136A

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:70,295,976-70,302,067 (from NCBI)

This gene has 6 transcripts (splice variants) and 219 orthologues. Ubiquitous expression in duodenum (RPKM 18.8), thyroid (RPKM 18.0) and 25 other tissues.

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 gene has been associated with familial Meniere's disease, a chronic disorder of the inner ear. Several pseudogenes of this gene are found on Other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

FAM136A Products (6)

mRNA	Protein	Name
NM_001329752.2	NP_001316681.1	protein FAM136A isoform 2
NM_001329753.2	NP_001316682.1	protein FAM136A isoform 3
NM_001329755.2	NP_001316684.1	protein FAM136A isoform 4
NM_001329757.2	NP_001316686.1	protein FAM136A isoform 4
NM_001329758.2	NP_001316687.1	protein FAM136A isoform 4
NM_032822.3	NP_116211.2	protein FAM136A isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Referencias	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FAM136A Protein Structure

DUF842

0
100
138 a.a.

Protein Preferred Names	Protein Names
protein FAM136A

FAM136A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	FAM136A	Q96C01	ANKRD11	Homo sapiens	X5D778	Validated Y2H	32296183
Intra	FAM136A	Q96C01	SMARCD1	Homo sapiens	Q96GM5	Validated Y2H	32296183
Intra	FAM136A	Q96C01	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183
Intra	FAM136A	Q96C01	DPY30	Homo sapiens	Q9C005	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Meniere Disease	Meniere'S Disease Otogenic Vertigo Ménière Disease Ménière'S Disease Mnire'S Vertigo Auditory Vertigo Aural Vertigo Meniere'S Syndrome Ménière'S Vertigo Primary Endolymphatic Hydrops Menieres Disease Vertigo, Aural Labyrinth Hydrops Labyrinthine Hydrops Labyrinthine Vertigo Ménière Syndrome Ménière Vertigo Idiopathic Endolymphatic Hydrops
Peripheral Vertigo	Vertigo, Peripheral
Vestibular Disease	Vestibular Diseases Vertigo, Vestibular Disorder Vestibular Disorder Diseases Of Inner Ear
Deafness, Autosomal Dominant 28	DFNA28 Autosomal Dominant Nonsyndromic Deafness 28 Autosomal Dominant Deafness 28 Deafness, Autosomal Dominant, 28 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28 Deafness, Autosomal Dominant, Type 28
Deafness, Autosomal Dominant 9	DFNA9 Autosomal Dominant Nonsyndromic Deafness 9 Autosomal Dominant Deafness 9 Deafness, Autosomal Dominant, 9 Deafness, Autosomal Dominant, Type 9
Vertigo, Benign Recurrent	Benign Paroxysmal Positional Vertigo Bppv Vestibulopathy, Familial BRV Vertigo, Benign Paroxysmal Positional Benign Paroxysmal Positional Nystagmus Benign Recurrent Vertigo Familial Benign Recurrent Vertigo Familial Vestibulopathy Benign Paroxysmal Nystagmus Bppv - [Benign Positional Paroxysmal Vertigo]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS04685	FAM136A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FAM136A	RGD	RGD:1304825
Mus musculus	FAM136A	MGD	MGI:1913738
Others	FAM136A	NCBI