TMC2 - transmembrane channel like 2 Gene

Homo sapiens

Also known as C20orf145

Gene ID: 117532 | Gene type: protein coding

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	Reference	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

Bioactive Molecules (1)

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

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