TMC2 - transmembrane channel like 2 Gene

Also Known as C20orf145

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 117532

About TMC2

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:2,536,573-2,643,580 (from NCBI)

This gene has 3 transcripts (splice variants), 264 orthologues and 7 paralogues. Low expression observed in reference dataset.

Summary

This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]

TMC2 Products (1)

mRNA	Protein	Name
NM_080751.3	NP_542789.2	transmembrane channel-like protein 2

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in detection of mechanical stimulus involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	11850618	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

TMC2 Protein Structure

TMC

0
200
400
600
800
906 a.a.

Protein Preferred Names	Protein Names
transmembrane channel-like protein 2	transmembrane cochlear-expressed gene 2

Related Diseases

Diseases	Alias
Deafness, Autosomal Dominant 36	DFNA36 Autosomal Dominant Nonsyndromic Deafness 36 Autosomal Dominant Deafness 36 Deafness, Autosomal Dominant, 36 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 36 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 36 Deafness, Autosomal Dominant, Type 36
Deafness, Autosomal Recessive 7	DFNB7 Dfnb11 Deafness, Autosomal Recessive 11 Autosomal Recessive Nonsyndromic Deafness 7 Autosomal Recessive Deafness 7 Deafness, Autosomal Recessive, 7 Deafness Neurosensory Autosomal Recessive 11 Deafness Neurosensory Autosomal Recessive 7 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 7 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 7 Deafness, Autosomal Recessive, Type 7
Deafness, Autosomal Recessive 103	DFNB103 Autosomal Recessive Nonsyndromic Deafness 103 Autosomal Recessive Deafness 103 Deafness, Autosomal Recessive, 103 Deafness, Autosomal Recessive, Type 103
Deafness, Autosomal Recessive 67	DFNB67 Autosomal Recessive Nonsyndromic Deafness 67 Autosomal Recessive Deafness 67 Deafness, Autosomal Recessive, 67 Deafness, Autosomal Recessive, Type 67
Usher Syndrome, Type Ij	Usher Syndrome Type 1j USH1J Usher Syndrome Type Ij Usher Syndrome 1j Usher'S Syndrome Type 1j
Deafness, Autosomal Recessive 6	DFNB6 Neurosensory Nonsyndromic Recessive Deafness 6 Nsrd6 Autosomal Recessive Nonsyndromic Deafness 6 Autosomal Recessive Deafness 6 Deafness, Autosomal Recessive, 6 Deafness Neurosensory Autosomal Recessive 6 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 6 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 6 Deafness, Autosomal Recessive, Type 6
Deafness, Autosomal Dominant 25	DFNA25 Autosomal Dominant Nonsyndromic Deafness 25 Autosomal Dominant Deafness 25 Deafness, Autosomal Dominant, 25 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 25 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 25 Deafness, Autosomal Dominant, Type 25
Usher Syndrome, Type Iiia	Usher Syndrome Type 3 Ush3 Usher Syndrome Type 3a USH3A Usher Syndrome, Type Iii Usher Syndrome, Type 3 Usher Syndrome, Type 3a Usher Syndrome Type Iiia Usher Syndrome 3a Usher'S Syndrome Type 3 Usher Syndrome Iii Usher Syndrome Type Iii
Usher Syndrome, Type Ig	Usher Syndrome Type 1g USH1G Usher Syndrome, Type 1g Usher Syndrome Type Ig Usher Syndrome 1g Usher'S Syndrome Type 1g
Acute Hemorrhagic Leukoencephalitis	Ahl Acute Haemorrhagic Leucoencephalitis Of Weston Hurst Leukoencephalitis, Acute Hemorrhagic Acute Hemorrhagic Encephalomyelitis Acute Necrotizing Hemorrhagic Leukoencephalitis Weston-Hurst Syndrome Ahle Acute Haemorrhagic Leucoencephalitis Hurst Disease Acute Haemorrhagic Leukoencephalitis, Postimmunization Or Postvaccinal Postimmunization Or Postvaccinal Leukoencephalopathy
Epidermodysplasia Verruciformis 1	Epidermodysplasia Verruciformis Epidermodysplasia Verruciformis, Susceptibility To, 1 Lutz-Lewandowsky Epidermodysplasia Verruciformis EV1 Lewandowsky-Lutz Syndrome Ev
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Deafness, Autosomal Recessive 63	DFNB63 Autosomal Recessive Nonsyndromic Deafness 63 Autosomal Recessive Deafness 63 Deafness, Autosomal Recessive, 63 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63 Deafness, Autosomal Recessive, Type 63
Usher Syndrome, Type Ic	USH1C Usher Syndrome Type 1c Usher Syndrome, Type 1c Usher Syndrome Type I Acadian Variety Usher Syndrome Type Ic Usher Syndrome, Type I, Acadian Variety Usher Syndrome 1c Acadian Usher Syndrome Usher'S Syndrome Type 1c
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14622	TMC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TMC2	RGD	RGD:1310073
Felis catus	TMC2	VGNC	VGNC:66234
Mus musculus	TMC2	MGD	MGI:2151017
Bos taurus	TMC2	VGNC	VGNC:35918
Macaca mulatta	TMC2	VGNC	VGNC:79039
Canis familiaris	TMC2	VGNC	VGNC:47421
Others	TMC2	NCBI