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  2. POU3F4 - POU class 3 homeobox 4 Gene

POU3F4 - POU class 3 homeobox 4 Gene

中文名称:POU 3 类同源盒 4

种属: Homo sapiens

同用名: BRN4; DFN3; OTF9; BRN-4; DFNX2; OCT-9; OTF-9; BRAIN-4

基因 ID: 5456 | 基因类型: protein coding

关于 POU3F4

Cytogenetic location: Xq21.1 Genomic coordinates (GRCh38): X:83,508,290-83,512,127 (from NCBI)

This gene has 1 transcript (splice variant), 177 orthologues, 17 paralogues and is associated with 3 phenotypes.

功能概要

该基因编码 POU-III 类神经转录因子的成员。这个家族成员在内耳发育中发挥作用。该蛋白质被认为参与诱导纹状体神经元前体分化的表观遗传信号的介导。该基因的突变与 X 染色体相关的非综合征性混合性耳聋有关。[RefSeq 提供,2012 年 12 月]

This gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epigenetic signals which induce striatal neuron-precursor differentiation. Mutations in this gene are associated with X chromosome-linked nonsyndromic mixed deafness. [provided by RefSeq, Dec 2012]

POU3F4 基因产物(1)

mRNA Protein Name
NM_000307.5 NP_000298.3 POU domain, class 3, transcription factor 4

POU3F4 蛋白结构

Pou

Pou: Pou domain - N-terminal to homeobox domain (187 - 260)

Homeobox

Homeobox: Homeobox domain (279 - 335)

  • 0
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  • 300
  • 361 a.a.
蛋白主名 其他名称

POU domain, class 3, transcription factor 4

brain-specific homeobox/POU domain protein 4

关联疾病

疾病名称 别名
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

Chromosome Xq21 Deletion Syndrome

Choroideremia, Deafness, And Mental Retardation

Ayazi Syndrome

Xq21 Deletion Syndrome

Xq21 Microdeletion Syndrome

Del

Monosomy Xq21

Deafness, Nonsyndromic Sensorineural, Mitochondrial

Mitochondrial Non-Syndromic Sensorineural Hearing Loss

Mitochondrial Nonsyndromic Sensorineural Deafness

Mitochondrial Non-Syndromic Sensorineural Deafness

Isolated Mitochondrial Neurosensory Deafness

Isolated Mitochondrial Neurosensory Hearing Loss

Isolated Mitochondrial Sensorineural Deafness

Isolated Mitochondrial Sensorineural Hearing Loss

Mitochondrial Non-Syndromic Neurosensory Deafness

Mitochondrial Non-Syndromic Neurosensory Hearing Loss

Deafness, Sensorineural, Mitochondrial

DFNM

Rare Genetic Deafness

Rare Genetic Hearing Loss

Hereditary Hearing Loss And Deafness
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

Deafness, X-Linked 4

DFNX4

Dfn6

Deafness, Nonsyndromic Sensorineural Progressive 6

X-Linked Deafness 4

Deafness, X-Linked 6, Progressive

Nonsyndromic Sensorineural Progressive Deafness 6

X-Linked Progressive Deafness 6

Deafness, X-Linked, 4

Deafness Nonsyndromic Sensorineural Progressive 6

Deafness X-Linked 6 Progressive

Deafness, X-Linked, Type 4

X-Linked Nonsyndromic Deafness

X-Linked Deafness

Deafness, X-Linked

Deafness, X-Linked 3

DFNX3

Dfn4

X-Linked Deafness 3

Deafness, X-Linked 4, Congenital Sensorineural

Congenital Sensorineural X-Linked Deafness 4

Deafness, X-Linked 5, With Peripheral Neuropathy

Deafness, X-Linked 5

DFNX5

Aunx1

Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy

X-Linked Deafness 5

X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1

X-Linked Hsan With Deafness

X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy

X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness

X-Linked Hsan With Hearing Loss

X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss

Deafness, X-Linked, 5, With Peripheral Neuropathy

Deafness, X-Linked, Type 5

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, X-Linked 1

DFNX1

Dfn2

Deafness, X-Linked 2, Sensorineural Congenital

X-Linked Deafness 1

X-Linked Sensorineural Congenital Deafness 2

Deafness, X-Linked, 1

Congenital Sensorineural Deafness X-Linked 2

Deafness, X-Linked, Type 1

Deafness, Autosomal Dominant 15

DFNA15

Autosomal Dominant Nonsyndromic Deafness 15

Autosomal Dominant Deafness 15

Deafness, Autosomal Dominant, 15

Deafness, Autosomal Dominant, Type 15

Deafness And Myopia

High Myopia-Sensorineural Deafness Syndrome

DFNMYP

Deafness And Myopia Syndrome

Deafness, Cochlear, Plus

High Myopia And Sensorineural Deafness

Myopia And Deafness

High Myopia-Sensorineural Hearing Loss Syndrome

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

Partington Syndrome

X-Linked Reticulate Pigmentary Disorder

PRTS

Partington X-Linked Mental Retardation Syndrome

Mrxs1

Mrx36

Intellectual Developmental Disorder, X-Linked, Syndromic 1

Partington Disease

Pdr

Partington-Mulley Syndrome

Russell-Silver Syndrome, X-Linked

Mental Retardation, X-Linked, Syndromic 1

Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures

Mental Retardation, X-Linked 36

X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations

X-Linked Russell-Silver Syndrome

Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome

Intellectual Disability, X-Linked, Syndromic 1

Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures

Partington X-Linked Intellectual Disability Syndrome

X-Linked Intellectual Deficit-Dystonia-Dysarthria

X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures

Familial Cutaneous Amyloidosis

X-Linked Cutaneous Amyloidosis

Xlpdr

X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome

Pigmentary Disorder, Reticulate, With Systemic Manifestations

Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

CMTX5

Rosenberg-Chutorian Syndrome

Charcot-Marie-Tooth Disease X-Linked Recessive 5

Optic Atrophy, Polyneuropathy, And Deafness

Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5

Cmt5x

X-Linked Charcot-Marie-Tooth Disease Type 5

Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5

Optic Atrophy Polyneuropathy Deafness

Optic Atrophy With Polyneuropathy And Deafness

Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5

Deafness, Autosomal Dominant 21

DFNA21

Autosomal Dominant Nonsyndromic Deafness 21

Autosomal Dominant Deafness 21

Deafness, Autosomal Dominant, 21

Deafness, Autosomal Recessive 49

DFNB49

Autosomal Recessive Nonsyndromic Deafness 49

Autosomal Recessive Deafness 49

Deafness, Autosomal Recessive, 49

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 49

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 49

Deafness, Autosomal Recessive, Type 49

Deafness, X-Linked 7

X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome

DFNX7

X-Linked Deafness 7

Deafness, X-Linked, 7

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Deafness, Autosomal Recessive 110

DFNB110

Autosomal Recessive Nonsyndromic Deafness 110

Autosomal Recessive Deafness 110

Deafness, Autosomal Recessive, 110

Arts Syndrome

ARTS

Mrxsarts

Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision

Mrxs18

Lethal Ataxia With Deafness And Optic Atrophy

Fatal X-Linked Ataxia With Deafness And Loss Of Vision

Mental Retardation, X-Linked, Syndromic, Arts Type

Mental Retardation, X-Linked, Syndromic 18

Syndromic X-Linked Mental Retardation 18

Syndromic X-Linked Mental Retardation Arts Type

Lethal Ataxia-Deafness-Optic Atrophy

X-Linked Fatal Ataxia With Deafness And Loss Of Vision

Ataxia-Deafness-Optic Atrophy, Lethal

Lethal Ataxia With Hearing Loss And Optic Atrophy

Art

Vestibular Disease

Vestibular Diseases

Vertigo, Vestibular Disorder

Vestibular Disorder

Diseases Of Inner Ear

Mohr-Tranebjaerg Syndrome

Deafness-Dystonia-Optic Neuronopathy Syndrome

Jensen Syndrome

Deafness Dystonia Syndrome

MTS

Dds

Deafness-Dystonia-Optic Atrophy Syndrome

Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency

Opticoacoustic Nerve Atrophy With Dementia

Dystonia-Deafness Syndrome

Ddp

Ddon Syndrome

Mohr-Tranebjærg Syndrome

Deafness Dystonia Optic Atrophy Syndrome

Deafness Dystonia Optic Neuronopathy Syndrome

Dystonia Deafness Syndrome

Ddon

Deafness - Dystonia - Optic Neuronopathy Syndrome

Deafness-Dystonia-Optic Neuronopathy Syndrome

Hearing Loss-Dystonia-Optic Neuronopathy Syndrome

Dfn-1

X-Linked Progressive Deafness Type 1

Norrie Disease

Atrophia Bulborum Hereditaria

Episkopi Blindness

Pseudoglioma

ND

Norrie-Warburg Disease

Anderson-Warburg Syndrome

Fetal Iritis Syndrome

Norrie Syndrome

Norrie-Warburg Syndrome

Ndp

Congenital Progressive Oculo-Acoustico-Cerebral Degeneration

Norrie'S Disease

Oligophrenia Microphthalmus

Pseudoglioma Congenita

Whitnall-Norman Syndrome

Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations

Star Syndrome

Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome

Syndactyly With Renal And Anogenital Malformations

STAR

Syndactyly, Telecanthus, Anogenital And Renal Malformations

Toe Syndactyly, Telecanthus, Anogenital And Renal Malformations

Pendred Syndrome

Goiter-Deafness Syndrome

Deafness With Goiter

PDS

Thyroid Dyshormonogenesis 2b

Tdh2b

Autosomal Recessive Sensorineural Hearing Impairment And Goiter

Pendred'S Syndrome

Thyroid Hormonogenesis, Genetic Defect In, 2b

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b

Congenital Hypothyroidism Due To Dyshormonogenesis 2b

Genetic Defect In Thyroid Hormonogenesis 2b

Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter

Goiter-Hearing Loss Syndrome

Goitre-Deafness Syndrome

Goitre Deafness

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

Waardenburg Syndrome, Type 1

Waardenburg Syndrome Type 1

WS1

Waardenburg Syndrome Type I

Waardenburg Syndrome With Dystopia Canthorum

Waardenburg'S Syndrome Type 1

Waardenburg Syndrome 1

Waardenburg Syndrome, Type I

Waardenburg Syndrome

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

Branchiootorenal Syndrome

Branchio-Oto-Renal Syndrome

Bor Syndrome

Branchiootorenal Dysplasia

Melnick-Fraser Syndrome

Branchiootorenal Spectrum Disorders

Branchio-Otorenal Dysplasia

Branchio Oto Renal Syndrome

Branchiootorenal/Branchiootic Syndrome

Bo Syndrome

Bor

Bos

Branchio-Otorenal Syndrome

Branchiootic Syndrome

Branchiootorenal Syndrome

Branchiootic Syndrome 1

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Otosclerosis

Otospongiosis

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

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

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
Bos taurus POU3F4 VGNC VGNC:33177
Rattus norvegicus POU3F4 RGD RGD:61947
Macaca mulatta POU3F4 VGNC VGNC:76224
Mus musculus POU3F4 MGD MGI:101894
Felis catus POU3F4 VGNC VGNC:68966
Canis familiaris POU3F4 VGNC VGNC:44830