POU4F3 - POU class 4 homeobox 3 Gene

Also Known as BRN3C; DFNA15; DFNA42; DFNA52

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5459

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_002700.3 NP_002691.1 POU domain, class 4, transcription factor 3
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
15465029 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
15465029 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
15465029 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
28790396 GOA
located in nucleus IDA
IDA: Inferred from direct assay
28790396 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

POU4F3 Protein Structure

Pou

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

Homeobox

Homeobox: Homeobox domain (275 - 331)

  • 0
  • 100
  • 200
  • 300
  • 338 a.a.
Protein Preferred Names Protein Names

POU domain, class 4, transcription factor 3

  • brain-3C

POU4F3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
POU4F3 Q15319 NHLRC4 Homo sapiens P0CG21 32296183
Intra
POU4F3 Q15319 NHLRC4 Homo sapiens P0CG21 32296183
Intra
POU4F3 Q15319 KRTAP6-3 Homo sapiens Q3LI67 32296183
Intra
POU4F3 Q15319 KRTAP6-3 Homo sapiens Q3LI67 32296183
Intra
POU4F3 Q15319 GOLGA2 Homo sapiens Q08379 32296183
Intra
POU4F3 Q15319 GOLGA2 Homo sapiens Q08379 32296183
Intra
POU4F3 Q15319 PLA2G10 Homo sapiens O15496 32296183
Intra
POU4F3 Q15319 PLA2G10 Homo sapiens O15496 32296183
Intra
POU4F3 Q15319 DUSP21 Homo sapiens Q9H596 32296183
Intra
POU4F3 Q15319 DUSP21 Homo sapiens Q9H596 32296183
Intra
POU4F3 Q15319 DUSP21 Homo sapiens Q9H596 32296183
Intra
POU4F3 Q15319 KRT31 Homo sapiens Q15323 32296183
Intra
POU4F3 Q15319 KRT31 Homo sapiens Q15323 32296183
Intra
POU4F3 Q15319 KRT31 Homo sapiens Q15323 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

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

Orthologs Information

Species Symbol Source 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
Others POU4F3 NCBI