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  2. POU4F3 - POU class 4 homeobox 3 Gene

POU4F3 - POU class 4 homeobox 3 Gene

中文名称:POU 4 类同源盒 3

种属: Homo sapiens

同用名: BRN3C; DFNA15; DFNA42; DFNA52

基因 ID: 5459 | 基因类型: protein coding

关于 POU4F3

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:146,338,839-146,341,728 (from NCBI)

This gene has 1 transcript (splice variant), 203 orthologues, 17 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码 POU 域转录因子家族的成员。已观察到 POU 结构域蛋白在控制多个系统中的细胞身份方面发挥重要作用。这种蛋白质存在于视网膜中,可能在确定或维持一小部分视觉系统神经元的身份方面发挥作用。该基因的缺陷是常染色体显性遗传 15 型非综合征性感音神经性耳聋的原因。[RefSeq 提供,2009 年 3 月]

This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009]

POU4F3 基因产物(1)

mRNA Protein Name
NM_002700.3 NP_002691.1 POU domain, class 4, transcription factor 3
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
15465029 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
15465029 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
15465029 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
28790396 GOA
located in nucleus IDA
IDA: 通过直接分析推断
28790396 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

POU4F3 蛋白结构

Pou

Pou: Pou domain - N-terminal to homeobox domain (181 - 256)

Homeobox

Homeobox: Homeobox domain (275 - 331)

  • 0
  • 100
  • 200
  • 300
  • 338 a.a.
蛋白主名 其他名称

POU domain, class 4, transcription factor 3

brain-3C

POU4F3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra POU4F3 Q15319 NHLRC4 Homo sapiens P0CG21
Y2H Array
32296183
Intra POU4F3 Q15319 NHLRC4 Homo sapiens P0CG21
Y2H Prey Pooling
32296183
Intra POU4F3 Q15319 KRTAP6-3 Homo sapiens Q3LI67
Y2H Array
32296183
Intra POU4F3 Q15319 KRTAP6-3 Homo sapiens Q3LI67
Y2H Prey Pooling
32296183
Intra POU4F3 Q15319 GOLGA2 Homo sapiens Q08379
Y2H Array
32296183
Intra POU4F3 Q15319 GOLGA2 Homo sapiens Q08379
Y2H Prey Pooling
32296183
Intra POU4F3 Q15319 PLA2G10 Homo sapiens O15496
Y2H Prey Pooling
32296183
Intra POU4F3 Q15319 PLA2G10 Homo sapiens O15496
Y2H Array
32296183
Intra POU4F3 Q15319 DUSP21 Homo sapiens Q9H596
Y2H Array
32296183
Intra POU4F3 Q15319 DUSP21 Homo sapiens Q9H596
Y2H Prey Pooling
32296183
Intra POU4F3 Q15319 DUSP21 Homo sapiens Q9H596
Validated Y2H
32296183
Intra POU4F3 Q15319 KRT31 Homo sapiens Q15323
Y2H Prey Pooling
32296183
Intra POU4F3 Q15319 KRT31 Homo sapiens Q15323
Y2H Array
32296183
Intra POU4F3 Q15319 KRT31 Homo sapiens Q15323
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Deafness, Autosomal Dominant 15

DFNA15

Autosomal Dominant Nonsyndromic Deafness 15

Autosomal Dominant Deafness 15

Deafness, Autosomal Dominant, 15

Deafness, Autosomal Dominant, Type 15

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Deafness, Autosomal Dominant 52

DFNA52

Autosomal Dominant Nonsyndromic Deafness 52

Deafness, Autosomal Dominant 42

Dfna42

Autosomal Dominant Deafness 52

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Deafness, Autosomal Dominant 9

DFNA9

Autosomal Dominant Nonsyndromic Deafness 9

Autosomal Dominant Deafness 9

Deafness, Autosomal Dominant, 9

Deafness, Autosomal Dominant, Type 9

Deafness, Autosomal Recessive 76

DFNB76

Autosomal Recessive Nonsyndromic Deafness 76

Autosomal Recessive Deafness 76

Deafness, Autosomal Recessive, 76

Deafness, Autosomal Recessive, Type 76

Deafness, Autosomal Recessive 101

DFNB101

Autosomal Recessive Nonsyndromic Deafness 101

Autosomal Recessive Deafness 101

Deafness, Autosomal Recessive, 101

Deafness, Autosomal Recessive, Type 101

Deafness, Autosomal Dominant 44

DFNA44

Autosomal Dominant Nonsyndromic Deafness 44

Autosomal Dominant Deafness 44

Deafness, Autosomal Dominant, 44

Deafness, Autosomal Dominant, Type 44

Thrombophlebitis Migrans
Deafness, Autosomal Dominant 50

DFNA50

Autosomal Dominant Nonsyndromic Deafness 50

Autosomal Dominant Deafness 50

Deafness, Autosomal Dominant, Type 50

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

Drug-Induced Hearing Loss

Drug Induced Hearing Loss

Deafness, Autosomal Dominant 41

DFNA41

Autosomal Dominant Nonsyndromic Deafness 41

Autosomal Dominant Deafness 41

Deafness, Autosomal Dominant, 41

Deafness, Autosomal Dominant, Type 41

Deafness, Autosomal Dominant 18

DFNA18

Autosomal Dominant Nonsyndromic Deafness 18

Autosomal Dominant Deafness 18

Deafness, Autosomal Dominant 22

DFNA22

Deafness, Autosomal Dominant 22, With Hypertrophic Cardiomyopathy

Autosomal Dominant Nonsyndromic Deafness 22

Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome

Autosomal Dominant Deafness 22

Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome

Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome

Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome

DFNHCM

Deafness, Autosomal Dominant, 22

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22

Deafness, Autosomal Dominant, Type 22

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Deafness, Autosomal Dominant 2b

DFNA2B

Autosomal Dominant Nonsyndromic Deafness 2b

Autosomal Dominant Deafness 2b

Deafness, Autosomal Dominant, 2b

Deafness, Autosomal Dominant, Type 2b

Deafness, X-Linked 2

Progressive Deafness With Stapes Fixation

DFNX2

Dfn3

Nance Deafness

Perilymphatic Gusher-Deafness Syndrome

Stapedo-Vestibular Ankylosis

Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear

X-Linked Deafness 2

X-Linked Mixed Conductive And Neurosensory Deafness

X-Linked Mixed Conductive And Sensorineural Deafness

Deafness 3 Conductive With Stapes Fixation

Deafness Conductive With Stapes Fixation

Deafness Mixed With Perilymphatic Gusher

Thies-Reis Syndrome

Deafness, Conductive, With Stapes Fixation

Deafness 3, Conductive, With Stapes Fixation

Deafness, Mixed, With Perilymphatic Gusher

Conductive Deafness 3 With Stapes Fixation

Conductive Deafness With Stapes Fixation

Mixed Deafness With Perilymphatic Gusher

X-Linked Deafness Type 2

X-Linked Mixed Conductive And Neurosensory Hearing Loss

X-Linked Mixed Conductive And Sensorineural Hearing Loss

X-Linked Sensorineural Deafness

X-Linked Stapes Gusher Syndrome

Deafness Mixed With Perilymphatic Gusher, X-Linked

Dfn 3 Nonsyndromic Hearing Loss And Deafness

Gusher Syndrome

Thies Reis Syndrome

Progressive Hearing Loss With Stapes Fixation

Deafness, X-Linked, 2

Deafness Mixed With Perilymph Gusher X-Linked

Deafness, X-Linked, Type 2

Progressive Hearing Loss Stapes Fixation

Deafness, Autosomal Dominant 11

DFNA11

Autosomal Dominant Nonsyndromic Deafness 11

Autosomal Dominant Deafness 11

Deafness, Autosomal Dominant, 11

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11

Deafness, Autosomal Dominant, Type 11

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Keratitis, Hereditary

Keratitis

Autosomal Dominant Keratitis

Hereditary Keratitis

Dominantly Inherited Keratitis

Keratitis Hereditary

KERH

X-Linked Nonsyndromic Deafness

X-Linked Deafness

Deafness, X-Linked

Deafness, Autosomal Dominant 16

DFNA16

Autosomal Dominant Nonsyndromic Deafness 16

Autosomal Dominant Deafness 16

Deafness, Autosomal Recessive 1b

DFNB1B

Autosomal Recessive Nonsyndromic Deafness 1b

Autosomal Recessive Deafness 1b

Deafness, Autosomal Recessive, 1b

Deafness Digenic Gjb2/Gjb6

Deafness Neurosensory Autosomal Recessive 1

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

Nsrd1

Deafness, Autosomal Recessive, Type 1b

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

Deafness, Autosomal Dominant 10

DFNA10

Autosomal Dominant Nonsyndromic Deafness 10

Autosomal Dominant Deafness 10

Deafness, Autosomal Dominant, 10

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10

Deafness, Autosomal Dominant, Type 10

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia

Konigsmark Syndrome

DFNA1

Autosomal Dominant Nonsyndromic Deafness 1

Lfhl1

Deafness, Autosomal Dominant 1

Autosomal Dominant Deafness 1

Autosomal Dominant Deafness 1, With Or Without Thrombocytopenia

Hereditary Low Frequency Hearing Loss 1

Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome

Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome

Hereditary Low-Frequency Hearing Loss

Hereditary Low-Frequency Sensorineural Hearing Loss

Lfsnhl1

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1

Deafness, Autosomal Dominant, Type 1

Inner Ear Disease

Labyrinthine Dysfunction

Diseases Of Inner Ear

Labyrinthine Disease

Abnormality Of The Inner Ear

Labyrinth Diseases

Labyrinthine Disorder

Nonfunctioning Labyrinth

Labyrinthine Loss Of Function

Labyrinthine Syndrome

Labyrinthine Disorder Nos

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

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

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

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus POU4F3 RGD RGD:1310459
Bos taurus POU4F3 VGNC VGNC:33179
Mus musculus POU4F3 MGD MGI:102523
Canis familiaris POU4F3 VGNC VGNC:44832
Felis catus POU4F3 VGNC VGNC:68969