OTOG - otogelin Gene

Also Known as OTGN; MLEMP; DFNB18B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 340990

About OTOG

Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38): 11:17,547,259-17,646,044 (from NCBI)

This gene has 6 transcripts (splice variants), 184 orthologues, 19 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

Summary

The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]

OTOG Products (2)

mRNA	Protein	Name
NM_001277269.2	NP_001264198.1	otogelin isoform a precursor
NM_001292063.2	NP_001278992.1	otogelin isoform b precursor

OTOG Protein Structure

VWD

TIL

VWD

AbfB

VWD

0
500
1000
1500
2000
2500
2925 a.a.

Protein Preferred Names	Protein Names
otogelin

Related Diseases

Diseases	Alias
Deafness, Autosomal Recessive 18b	DFNB18B Autosomal Recessive Nonsyndromic Deafness 18b Autosomal Recessive Deafness 18b Deafness, Autosomal Recessive, 18b Deafness, Autosomal Recessive, Type 18b
Rare Genetic Deafness	Rare Genetic Hearing Loss
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
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
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Autosomal Dominant Nonsyndromic Deafness 78	Dfna78
Deafness, Autosomal Recessive 84b	DFNB84B Autosomal Recessive Nonsyndromic Deafness 84b Autosomal Recessive Deafness 84b Deafness, Autosomal Recessive, 84b Deafness, Autosomal Recessive, Type 84b
Non-Syndromic Genetic Deafness	Nonsyndromic Genetic Hearing Loss Isolated Genetic Deafness Isolated Genetic Hearing Loss Non-Syndromic Genetic Hearing Loss
Nonsyndromic Hearing Loss	Nonsyndromic Deafness Nonsyndromic Hearing Impairment Nonsyndromic Hearing Loss And Deafness Deafness, Nonsyndromic Isolated Deafness
Deafness, Autosomal Recessive
Combined Oxidative Phosphorylation Deficiency 11	COXPD11 Combined Oxidative Phosphorylation Defect Type 11 Infantile Encephaloneuromyopathy Due To Mitochondrial Translation Defect Encephaloneuromyopathy, Infantile, Due To Mitochondrial Translation Defect Combined Oxidative Phosphorylation Deficiency, Type 11
Deafness, Autosomal Recessive 21	DFNB21 Autosomal Recessive Nonsyndromic Deafness 21 Autosomal Recessive Deafness 21 Deafness, Autosomal Recessive, 21 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 21 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 21 Deafness, Autosomal Recessive, Type 21
Peripheral Vertigo	Vertigo, Peripheral
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]
Vestibular Disease	Vestibular Diseases Vertigo, Vestibular Disorder Vestibular Disorder Diseases Of Inner Ear
Lethal Restrictive Dermopathy	Hyperkeratosis-Contracture Syndrome Tight Skin Contracture Syndrome Tight Skin Contracture Syndrome, Lethal Dermopathy, Restrictive, Lethal
Septicemic Plague	Plague, Septicemic
Deafness, Autosomal Dominant 4b	DFNA4B Autosomal Dominant Nonsyndromic Deafness 4b Autosomal Dominant Deafness 4b Deafness, Autosomal Dominant, 4b Deafness, Autosomal Dominant, Type 4b
Myoclonic Epilepsy, Juvenile 4	EJM4 Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 Myoclonic Epilepsy, Juvenile, 4 Juvenile Myoclonic Epilepsy 4
Deafness, Autosomal Recessive 66	DFNB66 Autosomal Recessive Nonsyndromic Deafness 66 Autosomal Recessive Deafness 66 Deafness, Autosomal Recessive, 66 Deafness, Autosomal Recessive, Type 66
Deafness, Autosomal Dominant 13	DFNA13 Autosomal Dominant Nonsyndromic Deafness 13 Autosomal Dominant Deafness 13 Deafness, Autosomal Dominant, 13 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 13 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 13 Deafness, Autosomal Dominant, Type 13
Pleomorphic Rhabdomyosarcoma	Adult Pleomorphic Rhabdomyosarcoma Anaplastic Rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma, Adult Type
Usher Syndrome, Type Id	Usher Syndrome Type 1d USH1D Usher Syndrome, Type 1d Usher Syndrome Type Id Usher Syndrome, Type Id/F, Digenic Usher Syndrome, Type 1d/F Digenic Usher Syndrome 1d Usher'S Syndrome Type 1d Usher Syndrome 1d/F USH1DF Ush1d/F Usher'S Syndrome Type 1h Usher Syndrome 1h Usher Syndrome Type Ih Usher Syndrome, Type 1d/F
Deafness, Autosomal Recessive 16	DFNB16 Autosomal Recessive Nonsyndromic Deafness 16 Autosomal Recessive Deafness 16 Deafness, Autosomal Recessive, 16 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 16 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 16 Deafness, Autosomal Recessive, Type 16
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged Vestibular Aqueduct DFNB4 Neurosensory Nonsyndromic Recessive Deafness 4 Enlarged Vestibular Aqueduct Syndrome Nsrd4 Autosomal Recessive Nonsyndromic Deafness 4 Dilated Vestibular Aqueduct Dva Enlarged Vestibular Aqueduct, Digenic Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct Large Vestibular Aqueduct Syndrome Deafness, Autosomal Recessive, 4 Deafness Neurosensory Autosomal Recessive 4 Eva Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Superior Semicircular Canal Dehiscence	Superior Canal Dehiscence Syndrome Superior Semicircular Canal Dehiscence Syndrome Canal Dehiscence Syndrome Superior Canal Dehiscence Superior Canal Syndrome Third Mobile Window Syndrome Scds Anemia, Sickle Cell
Usher Syndrome, Type Iic	Usher Syndrome Type 2c USH2C Usher Syndrome, Type 2c Usher Syndrome, Type Iic, Gpr98/Pdzd7 Digenic Usher Syndrome Type Iic Usher Syndrome, Type 2c, Gpr98/Pdzd7 Digenic Usher Syndrome 2c Usher'S Syndrome Type 2c Usher Syndrome Type Iic Gpr98/Pdzd7 Digenic
Deafness, Autosomal Dominant 9	DFNA9 Autosomal Dominant Nonsyndromic Deafness 9 Autosomal Dominant Deafness 9 Deafness, Autosomal Dominant, 9 Deafness, Autosomal Dominant, Type 9
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Erythrokeratodermia Variabilis Et Progressiva 1	Erythrokeratodermia Variabilis Erythrokeratodermia Variabilis Et Progressiva Greither Disease Ekv Ekvp PSEK Erythrokeratodermia Variabilis With Erythema Gyratum Repens Keratosis Palmoplantaris Transgrediens Et Progrediens Transgrediens Et Progrediens Palmoplantar Keratoderma EKVP1 Erythrokeratodermia, Progressive Symmetric Erythrokeratodermia Figurata, Congenital Familial, In Plaques Keratoderma Palmoplantaris Transgrediens Keratosis Extremitatum Hereditaria Progrediens Erythrokeratodermia Variabilis, Mendes Da Costa Type Progressive Symmetric Erythrokeratodermia Erythrokeratodermia Figurata Variabilis Greither'S Disease Ekv-P Erythrokeratodermia Variabilis Of Mendes Da Costa Progressive Symmetrical Erythrokeratoderma Of Gottron Progressive Diffuse Ppk Progressive Diffuse Palmoplantar Keratoderma Transgrediens Et Progrediens Ppk Darier-Gottron Disease Erythrokeratodermia Progressiva Symmetrica Progressive Symmetric Erythrokeratodermia, Gottron Type Congenital Familial Erythrokeratodermia Figurata In Plaques Erythrokeratodermia Progressive Symmetric Erythrokeratodermia Variabilis Mendes Da Costa Type
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
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
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

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-RS09862	OTOG Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	OTOG	VGNC	VGNC:32485
Rattus norvegicus	OTOG	RGD	RGD:1306610
Felis catus	OTOG	VGNC	VGNC:68663
Mus musculus	OTOG	MGD	MGI:1202064
Macaca mulatta	OTOG	VGNC	VGNC:101371
Canis familiaris	OTOG	VGNC	VGNC:44177
Others	OTOG	NCBI