OTOGL - otogelin like Gene

Also Known as DFNB84B; C12orf64

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 283310

About OTOGL

Cytogenetic location: 12q21.31 Genomic coordinates (GRCh38): 12:80,099,537-80,380,880 (from NCBI)

This gene has 8 transcripts (splice variants), 179 orthologues, 19 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 2.9), heart (RPKM 0.7) and 3 other tissues.

Summary

The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]

OTOGL Products (4)

mRNA	Protein	Name
NM_001368062.3	NP_001354991.2	otogelin-like protein isoform 2 precursor
NM_001378609.3	NP_001365538.2	otogelin-like protein isoform 1 precursor
NM_001378610.3	NP_001365539.2	otogelin-like protein isoform 1 precursor
NM_173591.7	NP_775862.4	otogelin-like protein isoform 1 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	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

OTOGL Protein Structure

VWD

TIL

VWD

TIL

VWD

AbfB

VWD

0
400
800
1200
1600
2000
2332 a.a.

Protein Preferred Names	Protein Names
otogelin-like protein

Related Diseases

Diseases	Alias
Deafness, Autosomal Recessive 84b	DFNB84B Autosomal Recessive Nonsyndromic Deafness 84b Autosomal Recessive Deafness 84b Deafness, Autosomal Recessive, 84b Deafness, Autosomal Recessive, Type 84b
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
Deafness, Autosomal Recessive 18b	DFNB18B Autosomal Recessive Nonsyndromic Deafness 18b Autosomal Recessive Deafness 18b Deafness, Autosomal Recessive, 18b Deafness, Autosomal Recessive, Type 18b
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 4b	DFNA4B Autosomal Dominant Nonsyndromic Deafness 4b Autosomal Dominant Deafness 4b Deafness, Autosomal Dominant, 4b Deafness, Autosomal Dominant, Type 4b
Vestibulocochlear Nerve Disease	Vestibulocochlear Nerve Diseases Acoustic Nerve Disease Cochlear Nerve Diseases Disturbance Of Vestibulocochlear Nerve Auditory Nerve Disorder Disorder Of Acoustovestibular Nerve Disorder Of Eighth Nerve Eighth Cranial Nerve Disorder Disease Of Eighth Cranial Nerve Disease Of Acoustic Nerve Disease Of Auditory Nerve Disorder Of 8th Cranial Nerve Auditory Nerve Lesion Cochlear Nerve Disorder
Vestibular Neuronitis	Vestibular Neuritis Epidemic Neurolabyrinthitis
Von Willebrand Disease, Type 2	Von Willebrand Disease Type 2m Von Willebrand Disease Type 2 Von Willebrand Disease Type 2a Von Willebrand Disease Type 2b Von Willebrand Disease Type 2n VWD2 Von Willebrand'S Disease 2 Von Willebrand Disease Type Ii Von Willebrand Disease, Type Ii Vwd, Type 2 Von Willebrand Disease, Types 2a, 2b, 2m, And 2n Vwd Type 2 Von Willebrand Disease 2 Von Willebrand Disease Normandy Variant Von Willebrand Disease Type 2 Malmo Von Willebrand Disease Type I New York Von Willebrand Factor Deficiency Type 2 Vwd2a Vwd2b Vwd2m Vwd2n Von Willebrand Disease, Type 2a, 2b, 2m, And 2n Von Willebrand Disease, Type 2a Von Willebrand Disease, Type 2b Von Willebrand Disease, Type 2n
Von Willebrand Disease, Type 3	Von Willebrand Disease Type 3 VWD3 Von Willebrand'S Disease 3 Von Willebrand Disease Type Iii Von Willebrand Disease, Type Iii Vwd, Type 3 Vwd Type 3 Von Willebrand Disease 3 Von Willebrand Disease Recessive Form Von Willebrand Factor Deficiency Type 3
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]
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09863	OTOGL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22703	Otogl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29217	Otogl Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	OTOGL	VGNC	VGNC:32486
Canis familiaris	OTOGL	VGNC	VGNC:108231
Rattus norvegicus	OTOGL	RGD	RGD:1589018
Mus musculus	OTOGL	MGD	MGI:3647600
Macaca mulatta	OTOGL	VGNC	VGNC:100084
Others	OTOGL	NCBI