OTOGL - otogelin like Gene

中文名称：耳明胶样

种属: Homo sapiens

同用名: DFNB84B; C12orf64

基因 ID: 283310 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质属于 otogelin 家族。该基因在脊椎动物的内耳中表达，在胚胎阶段表达水平最高，在成体阶段表达水平最低。斑马鱼的基因敲除研究表明，该基因对于正常的内耳功能至关重要。该基因的突变与常染色体隐性耳聋有关。[RefSeq 提供，2012 年 12 月]

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 基因产物(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

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32814053	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

OTOGL 蛋白结构

VWD

TIL

VWD

TIL

VWD

AbfB

VWD

0
400
800
1200
1600
2000
2332 a.a.

蛋白主名

其他名称

otogelin-like protein

关联疾病

疾病名称

别名

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

疾病名称	别名
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.	产品名	作用方式	纯度	是否罕见病
HY-RS09863	OTOGL Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS22703	Otogl Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS29217	Otogl Rat Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

OTOGL - otogelin like Gene

关于 OTOGL

功能概要

OTOGL 基因产物(4)

OTOGL 蛋白结构

关联疾病

直系同源

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OTOGL - otogelin like Gene

关于 OTOGL

功能概要

OTOGL 基因产物(4)

OTOGL 蛋白结构

关联疾病

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直系同源

热门区域

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