OTOG - otogelin Gene

Homo sapiens

Also known as OTGN; MLEMP; DFNB18B

Gene ID: 340990 | Gene type: protein coding

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09862	OTOG Human Pre-designed siRNA Set A		/	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