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DFNX2
MCID: DFN036
MIFTS: 44

Deafness, X-Linked 2 (DFNX2)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Deafness, X-Linked 2

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MalaCards integrated aliases for Deafness, X-Linked 2:

Name: Deafness, X-Linked 2 57 20 29 13 6
Nance Deafness 57 12 20 72
Dfnx2 57 12 20 72
Dfn3 57 12 20 72
Perilymphatic Gusher-Deafness Syndrome 57 20 72
Sensorineural Deafness, Profound, with or Without a Conductive Component, Associated with a Unique Developmental Abnormality of the Ear 57 20
X-Linked Mixed Conductive and Sensorineural Deafness 12 72
X-Linked Mixed Conductive and Neurosensory Deafness 12 72
Deafness 3 Conductive with Stapes Fixation 20 72
Deafness Conductive with Stapes Fixation 20 72
Deafness Mixed with Perilymphatic Gusher 20 72
X-Linked Deafness 2 12 15
Deafness X-Linked 2 with Non-Syndromic Mental Retardation 72
X-Linked Mixed Conductive and Sensorineural Hearing Loss 12
X-Linked Mixed Conductive and Neurosensory Hearing Loss 12
Deafness 3, Conductive, with Stapes Fixation; Dfn3 57
Deafness Mixed with Perilymph Gusher X-Linked 72
Deafness 3, Conductive, with Stapes Fixation 57
Dfn 3 Nonsyndromic Hearing Loss and Deafness 20
Deafness, Conductive, with Stapes Fixation 57
Deafness, Mixed, with Perilymphatic Gusher 57
Conductive Deafness 3 with Stapes Fixation 12
Conductive Deafness with Stapes Fixation 12
Mixed Deafness with Perilymphatic Gusher 12
Progressive Hearing Loss Stapes Fixation 70
X-Linked Sensorineural Deafness 12
X-Linked Stapes Gusher Syndrome 12
Deafness, X-Linked, Type 2 39
X-Linked Deafness Type 2 12
Deafness, X-Linked, 2 72
Gusher Syndrome 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

Miscellaneous:
leakage of fluid ('gusher') if the stapes is disturbed
female carriers may have mild hearing impairment


HPO:

31
deafness, x-linked 2:
Inheritance x-linked recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0111737
OMIM® 57 304400
OMIM Phenotypic Series 57 PS304500
MeSH 44 D046089
SNOMED-CT via HPO 68 44057004
UMLS 70 C1844678
Sources

Summaries for Deafness, X-Linked 2

About this section
OMIM® : 57 DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by de Kok et al., 1995 and Song et al., 2010). See also choroideremia, deafness, and mental retardation (303110), a contiguous gene deletion syndrome involving the POU3F4 and CHM (300390) genes on Xq21; isolated choroideremia (303100) is caused by mutation in the CHM gene. (304400) (Updated 05-Apr-2021)

MalaCards based summary : Deafness, X-Linked 2, also known as nance deafness, is related to deafness, x-linked 1 and nonsyndromic hearing loss. An important gene associated with Deafness, X-Linked 2 is POU3F4 (POU Class 3 Homeobox 4), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include bone and brain, and related phenotypes are conductive hearing impairment and stapes ankylosis

Disease Ontology : 12 An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has material basis in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1.

UniProtKB/Swiss-Prot : 72 Deafness, X-linked, 2: A form of deafness characterized by both conductive hearing loss resulting from stapes (perilymphatic gusher) fixation, and progressive sensorineural deafness.

Sources

Related Diseases for Deafness, X-Linked 2

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Diseases in the Y-Linked Deafness family:

Deafness, X-Linked 3 Deafness, X-Linked 4
Deafness, X-Linked 6 Deafness, X-Linked 7
Deafness, X-Linked 2 Deafness, X-Linked 1
Deafness, Y-Linked 1 Deafness, Y-Linked 2
X-Linked Nonsyndromic Deafness

Diseases related to Deafness, X-Linked 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 deafness, x-linked 1 32.1 TIMM8A SMPX PRPS1L1 PRPS1 POU3F4 COL4A6
2 nonsyndromic hearing loss 31.2 SLC26A4 PRPS1 POU4F3 POU3F4 GJB6 GJB3
3 branchiootic syndrome 1 30.7 SLC26A4 GJB2 EYA1
4 x-linked non-syndromic sensorineural deafness type dfn 30.6 SMPX PRPS1 COL4A6
5 rare genetic deafness 30.3 SLC26A4 POU3F4 GJB2 EYA1
6 phosphoribosylpyrophosphate synthetase superactivity 30.3 PRPS1L1 PRPS1
7 sensorineural hearing loss 29.1 TIMM8A SMPX SLC26A4 PRPS1 POU4F3 POU3F4
8 x-linked nonsyndromic deafness 28.5 TIMM8A SMPX SLC26A4 SATL1 RPS6KA6 PRPS1L1
9 deafness mixed with perilymphatic gusher, x-linked 11.5
10 deafness-hypogonadism syndrome 11.1
11 deafness x-linked, dfn3 11.0
12 choroideremia 10.9
13 nonsyndromic hearing loss and deafness, dfna3 10.4 GJB6 GJB2
14 x-linked charcot-marie-tooth disease 10.4 PRPS1 GJB2
15 purulent labyrinthitis 10.4 GJB6 GJB2
16 viral labyrinthitis 10.4 GJB6 GJB2
17 charcot-marie-tooth disease type 5 10.4 PRPS1L1 PRPS1
18 hypotrichosis-deafness syndrome 10.4 GJB3 GJB2
19 congenital cytomegalovirus 10.3 GJB6 GJB2
20 mental retardation, x-linked, syndromic, martin-probst type 10.3 TIMM8A POU3F4
21 charcot-marie-tooth disease, x-linked recessive, 5 10.3 PRPS1L1 PRPS1 POU3F4
22 hereditary lymphedema ic 10.3 GJB3 GJB2
23 arts syndrome 10.3 PRPS1L1 PRPS1 POU3F4
24 serous labyrinthitis 10.3 SLC26A4 GJB2
25 labyrinthitis 10.3 SLC26A4 GJB6 GJB2
26 charcot-marie-tooth disease, x-linked dominant, 6 10.3 SMPX PRPS1
27 deafness, autosomal dominant 24 10.3 POU4F3 GJB3
28 autosomal recessive nonsyndromic deafness 3 10.3 SLC26A4 GJB2
29 deafness, autosomal dominant 51 10.3 SMPX GJB3
30 charcot-marie-tooth disease type x 10.3 PRPS1L1 PRPS1 AIFM1
31 erythrokeratoderma 10.3 GJB3 GJB2
32 pseudoainhum 10.3 GJB6 GJB3 GJB2
33 deafness, autosomal dominant 56 10.3 SLC26A4 GJB2
34 nonsyndromic hearing loss and deafness, dfnb1 10.3 GJB6 GJB3 GJB2
35 dfnb1 10.3 GJB6 GJB3 GJB2
36 deafness, autosomal dominant 41 10.3 SLC26A4 POU4F3 GJB2
37 deafness, autosomal dominant 3a 10.3 GJB6 GJB3 GJB2
38 knuckle pads 10.3 GJB6 GJB3 GJB2
39 mohr-tranebjaerg syndrome 10.3 TIMM8A SMPX POU3F4
40 bart-pumphrey syndrome 10.3 GJB6 GJB3 GJB2
41 deafness, autosomal dominant 6 10.3 SLC26A4 POU4F3 GJB2
42 keratoderma, palmoplantar, with deafness 10.3 GJB6 GJB3 GJB2
43 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3
44 hypothalamic hamartomas 10.3
45 mollaret meningitis 10.3
46 deafness, autosomal dominant 2b 10.3 POU4F3 GJB3 GJB2
47 deafness, autosomal dominant 20 10.3 SMPX SLC26A4 POU4F3
48 charcot-marie-tooth disease x-linked recessive 4 10.3 TIMM8A PRPS1 AIFM1
49 deafness, autosomal dominant 2a 10.3 POU4F3 GJB3 GJB2
50 palmoplantar keratoderma and congenital alopecia 1 10.3 GJB6 GJB3 GJB2

Graphical network of the top 20 diseases related to Deafness, X-Linked 2:



Diseases related to Deafness, X-Linked 2
Sources

Symptoms & Phenotypes for Deafness, X-Linked 2

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Human phenotypes related to Deafness, X-Linked 2:

31
# Description HPO Frequency HPO Source Accession
1 conductive hearing impairment 31 HP:0000405
2 stapes ankylosis 31 HP:0000381
3 dilatated internal auditory canal 31 HP:0004458
4 progressive sensorineural hearing impairment 31 HP:0000408

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, conductive
stapes fixation
deafness, profound
hearing loss, sensorineural, progressive
wide bulbous internal auditory meatus
more

Clinical features from OMIM®:

304400 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, X-Linked 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.76 EYA1 GJB2 GJB3 GJB6 POU3F4 POU4F3
2 nervous system MP:0003631 9.7 AIFM1 CHM EPHA4 EYA1 GJB2 GJB6
3 normal MP:0002873 9.23 CHM COL4A6 EPHA4 EYA1 GJB2 POU4F3
Sources

Drugs & Therapeutics for Deafness, X-Linked 2

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Search Clinical Trials , NIH Clinical Center for Deafness, X-Linked 2

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Genetic Tests for Deafness, X-Linked 2

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Genetic tests related to Deafness, X-Linked 2:

# Genetic test Affiliating Genes
1 Deafness, X-Linked 2 29 GJB2 GJB6 POU3F4
Sources

Anatomical Context for Deafness, X-Linked 2

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MalaCards organs/tissues related to Deafness, X-Linked 2:

40
Bone, Brain
Sources

Publications for Deafness, X-Linked 2

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Articles related to Deafness, X-Linked 2:

(show all 48)
# Title Authors PMID Year
1
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. 6 57
7581392 1995
2
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. 57 6
7839145 1995
3
A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity. 57 6
1783396 1991
4
Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice. 6 61
23606368 2013
5
Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation. 6
23076972 2013
6
Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA. 57
20412083 2010
7
Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants. 57
19438930 2009
8
Sex-linked deafness. 57
18005182 2008
9
Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness. 57
17935254 2007
10
Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness. 57
10464101 1999
11
The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation. 6
9298820 1997
12
A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene. 57
8589693 1995
13
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions. 57
7981685 1994
14
A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome. 57
1362559 1992
15
Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21. 57
1511979 1992
16
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3). 57
1609803 1992
17
X-linked deafness, stapes gushers and a distinctive defect of the inner ear. 57
1922747 1991
18
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. 57
2491012 1989
19
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK. 57
2904400 1988
20
X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34. 57
3243543 1988
21
Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion. 57
3438052 1987
22
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. 57
3476958 1987
23
Audiologic features of the X-linked progressive mixed deafness syndrome with perilymphatic gusher during stapes gusher. 57
4039896 1985
24
X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery. 57
3977755 1985
25
Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery). 57
6662621 1983
26
Choroideremia, obesity, and congenital deafness. 57
7258279 1981
27
X-linked deafness in a South African kindred. 57
4821674 1974
28
Sex-linked congenital deafness. 57
5822288 1969
29
Cerebrospinal fluid otorrhea and the congenitally fixed stapes. 57
5642491 1968
30
Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness. 57
5865628 1965
31
Pou3f4-expressing otic mesenchyme cells promote spiral ganglion neuron survival in the postnatal mouse cochlea. 61
31994726 2020
32
A Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations. 61
32409310 2020
33
Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers. 61
31786483 2020
34
[Presentation of a rare case of hereditary hearing loss with X-linked recessive inheritance associated with the POU3F4 gene]. 61
32885640 2020
35
Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes. 61
31063410 2019
36
Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families. 61
30176854 2018
37
X-Linked Sensorineural Hearing Loss: A Literature Review. 61
30065609 2018
38
A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2). 61
29287890 2018
39
Facial nerve stimulation following cochlear implantation for X-linked stapes gusher syndrome leading to identification of a novel POU3F4 mutation. 61
27863625 2016
40
Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III. 61
26600195 2016
41
Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss. 61
27941975 2016
42
De novo large genomic deletions involving POU3F4 in incomplete partition type III inner ear anomaly in East Asian populations and implications for genetic counseling. 61
24608376 2015
43
X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care. 61
24687041 2014
44
X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4. 61
24096866 2014
45
Pou3f4-mediated regulation of ephrin-b2 controls temporal bone development in the mouse. 61
25299585 2014
46
Audiological and surgical evidence for the presence of a third window effect for the conductive hearing loss in DFNX2 deafness irrespective of types of mutations. 61
23400403 2013
47
Otic mesenchyme cells regulate spiral ganglion axon fasciculation through a Pou3f4/EphA4 signaling pathway. 61
22243746 2012
48
Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss. 61
21193157 2010
Sources

Variations for Deafness, X-Linked 2

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ClinVar genetic disease variations for Deafness, X-Linked 2:

6 (show top 50) (show all 55)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POU3F4 NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu) SNV Pathogenic 402272 rs1060499806 GRCh37: X:82764177-82764177
GRCh38: X:83509169-83509169
2 POU3F4 NM_000307.5(POU3F4):c.877C>G (p.Leu293Val) SNV Pathogenic 417622 rs780027419 GRCh37: X:82764209-82764209
GRCh38: X:83509201-83509201
3 GJB2 NM_004004.6(GJB2):c.283G>A (p.Val95Met) SNV Pathogenic 44735 rs111033299 GRCh37: 13:20763438-20763438
GRCh38: 13:20189299-20189299
4 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) SNV Pathogenic 44749 rs76434661 GRCh37: 13:20763305-20763305
GRCh38: 13:20189166-20189166
5 POU3F4 NM_000307.5(POU3F4):c.249dup (p.Gly84fs) Duplication Pathogenic 560726 rs1569280138 GRCh37: X:82763578-82763579
GRCh38: X:83508570-83508571
6 POU3F4 NM_000307.5(POU3F4):c.975G>A (p.Trp325Ter) SNV Pathogenic 599350 rs1569280385 GRCh37: X:82764307-82764307
GRCh38: X:83509299-83509299
7 POU3F4 NM_000307.5(POU3F4):c.950dup (p.Leu317fs) Duplication Pathogenic 41457 rs398122516 GRCh37: X:82764280-82764281
GRCh38: X:83509272-83509273
8 POU3F4 NM_000307.5(POU3F4):c.1060del (p.Thr354fs) Deletion Pathogenic 41458 rs398122517 GRCh37: X:82764389-82764389
GRCh38: X:83509381-83509381
9 POU3F4 NM_000307.4(POU3F4):c.896delA (p.Lys299Serfs) Deletion Pathogenic 156303 rs267606974 GRCh37: X:82764227-82764227
GRCh38: X:83509219-83509219
10 POU3F4 NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter) SNV Pathogenic 236062 rs878853242 GRCh37: X:82763567-82763567
GRCh38: X:83508559-83508559
11 POU3F4 NM_000307.5(POU3F4):c.853_854del (p.Ile285fs) Deletion Pathogenic 43352 rs397516336 GRCh37: X:82764185-82764186
GRCh38: X:83509177-83509178
12 GJB2 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) SNV Pathogenic 188830 rs104894413 GRCh37: 13:20763590-20763590
GRCh38: 13:20189451-20189451
13 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) SNV Pathogenic 17005 rs104894398 GRCh37: 13:20763582-20763582
GRCh38: 13:20189443-20189443
14 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Pathogenic 17002 rs104894396 GRCh37: 13:20763650-20763650
GRCh38: 13:20189511-20189511
15 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 GRCh37: 13:20763294-20763294
GRCh38: 13:20189155-20189155
16 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Pathogenic 17016 rs80338945 GRCh37: 13:20763452-20763452
GRCh38: 13:20189313-20189313
17 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) SNV Pathogenic 17001 rs80338944 GRCh37: 13:20763490-20763490
GRCh38: 13:20189351-20189351
18 GJB2 NM_004004.6(GJB2):c.1A>G (p.Met1Val) SNV Pathogenic 44729 rs111033293 GRCh37: 13:20763720-20763720
GRCh38: 13:20189581-20189581
19 GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Pathogenic 17029 rs80338940 GRCh37: 13:20766921-20766921
GRCh38: 13:20192782-20192782
20 GJB2 NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) SNV Pathogenic 265481 rs774518779 GRCh37: 13:20763215-20763215
GRCh38: 13:20189076-20189076
21 GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) SNV Pathogenic 44763 rs111033294 GRCh37: 13:20763104-20763104
GRCh38: 13:20188965-20188965
22 POU3F4 NM_000307.5(POU3F4):c.170G>A (p.Trp57Ter) SNV Pathogenic 627470 rs1454033665 GRCh37: X:82763502-82763502
GRCh38: X:83508494-83508494
23 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Pathogenic 17007 rs80338950 GRCh37: 13:20763170-20763170
GRCh38: 13:20189031-20189031
24 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) SNV Pathogenic 5544 rs104894415 GRCh37: 13:20797589-20797589
GRCh38: 13:20223450-20223450
25 GJB2 NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) SNV Pathogenic 550195 rs371024165 GRCh37: 13:20763627-20763627
GRCh38: 13:20189488-20189488
26 GJB2 NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) SNV Pathogenic 163514 rs727503066 GRCh37: 13:20763342-20763342
GRCh38: 13:20189203-20189203
27 POU3F4 NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly) SNV Pathogenic 11684 rs104894924 GRCh37: X:82764299-82764299
GRCh38: X:83509291-83509291
28 POU3F4 NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser) SNV Pathogenic 11683 rs104894923 GRCh37: X:82764322-82764322
GRCh38: X:83509314-83509314
29 POU3F4 NM_000307.5(POU3F4):c.935C>T (p.Ala312Val) SNV Pathogenic 11682 rs387906502 GRCh37: X:82764267-82764267
GRCh38: X:83509259-83509259
30 POU3F4 NM_000307.5(POU3F4):c.862_865del (p.Val289fs) Deletion Pathogenic 11681 rs730882189 GRCh37: X:82764191-82764194
GRCh38: X:83509183-83509186
31 POU3F4 NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu) SNV Pathogenic 11680 rs104894922 GRCh37: X:82764332-82764332
GRCh38: X:83509324-83509324
32 POU3F4 NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp) SNV Pathogenic 11679 rs104894921 GRCh37: X:82764282-82764282
GRCh38: X:83509274-83509274
33 POU3F4 NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter) SNV Pathogenic 11678 rs104894920 GRCh37: X:82763936-82763936
GRCh38: X:83508928-83508928
34 POU3F4 NM_000307.5(POU3F4):c.648del (p.Leu217fs) Deletion Pathogenic 11677 rs1555984570 GRCh37: X:82763977-82763977
GRCh38: X:83508969-83508969
35 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile) SNV Likely pathogenic 17023 rs72474224 GRCh37: 13:20763612-20763612
GRCh38: 13:20189473-20189473
36 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) SNV Likely pathogenic 44740 rs104894408 GRCh37: 13:20763687-20763687
GRCh38: 13:20189548-20189548
37 POU3F4 NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe) SNV Uncertain significance 913161 GRCh37: X:82763723-82763723
GRCh38: X:83508715-83508715
38 POU3F4 NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu) SNV Uncertain significance 913162 GRCh37: X:82763862-82763862
GRCh38: X:83508854-83508854
39 POU3F4 NM_000307.5(POU3F4):c.585A>G (p.Glu195=) SNV Uncertain significance 913163 GRCh37: X:82763917-82763917
GRCh38: X:83508909-83508909
40 POU3F4 NM_000307.5(POU3F4):c.*297T>C SNV Uncertain significance 914803 GRCh37: X:82764715-82764715
GRCh38: X:83509707-83509707
41 GJB6 NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) SNV Uncertain significance 426683 rs750540794 GRCh37: 13:20797441-20797441
GRCh38: 13:20223302-20223302
42 GJB2 NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) SNV Uncertain significance 44765 rs111033194 GRCh37: 13:20763051-20763051
GRCh38: 13:20188912-20188912
43 GJB2 NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) SNV Uncertain significance 44764 rs375599392 GRCh37: 13:20763058-20763058
GRCh38: 13:20188919-20188919
44 POU3F4 NM_000307.5(POU3F4):c.*41C>A SNV Uncertain significance 368733 rs1057516008 GRCh37: X:82764459-82764459
GRCh38: X:83509451-83509451
45 POU3F4 NM_000307.5(POU3F4):c.*192T>C SNV Uncertain significance 368736 rs775863791 GRCh37: X:82764610-82764610
GRCh38: X:83509602-83509602
46 POU3F4 NM_000307.5(POU3F4):c.*141T>C SNV Uncertain significance 368735 rs368408951 GRCh37: X:82764559-82764559
GRCh38: X:83509551-83509551
47 GJB2 NM_004004.6(GJB2):c.188T>C (p.Val63Ala) SNV Uncertain significance 177751 rs727504309 GRCh37: 13:20763533-20763533
GRCh38: 13:20189394-20189394
48 POU3F4 NM_000307.5(POU3F4):c.24C>T (p.Pro8=) SNV Likely benign 811912 rs756362293 GRCh37: X:82763356-82763356
GRCh38: X:83508348-83508348
49 POU3F4 NM_000307.5(POU3F4):c.*105C>T SNV Likely benign 368734 rs777244703 GRCh37: X:82764523-82764523
GRCh38: X:83509515-83509515
50 POU3F4 NM_000307.5(POU3F4):c.753G>A (p.Leu251=) SNV Benign 368732 rs779713849 GRCh37: X:82764085-82764085
GRCh38: X:83509077-83509077

UniProtKB/Swiss-Prot genetic disease variations for Deafness, X-Linked 2:

72
# Symbol AA change Variation ID SNP ID
1 POU3F4 p.Ala312Val VAR_003782 rs387906502
2 POU3F4 p.Leu317Trp VAR_003783 rs104894921
3 POU3F4 p.Arg323Gly VAR_003784 rs104894924
4 POU3F4 p.Arg330Ser VAR_003785 rs104894923
5 POU3F4 p.Lys334Glu VAR_003786 rs104894922

Sources

Expression for Deafness, X-Linked 2

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Search GEO for disease gene expression data for Deafness, X-Linked 2.
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Pathways for Deafness, X-Linked 2

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Pathways related to Deafness, X-Linked 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Gap junction trafficking 65
Show member pathways
 10.79 GJB6 GJB3 GJB2
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GO Terms for Deafness, X-Linked 2

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Cellular components related to Deafness, X-Linked 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribose phosphate diphosphokinase complex GO:0002189 9.16 PRPS1L1 PRPS1
2 gap junction GO:0005921 9.13 GJB6 GJB3 GJB2
3 connexin complex GO:0005922 8.8 GJB6 GJB3 GJB2

Biological processes related to Deafness, X-Linked 2 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.67 TBX1 POU4F3 EYA1
2 nucleoside metabolic process GO:0009116 9.6 PRPS1L1 PRPS1
3 purine nucleotide biosynthetic process GO:0006164 9.59 PRPS1L1 PRPS1
4 middle ear morphogenesis GO:0042474 9.58 TBX1 EYA1
5 pharyngeal system development GO:0060037 9.58 TBX1 EYA1
6 cell communication GO:0007154 9.58 GJB6 GJB3 GJB2
7 aorta morphogenesis GO:0035909 9.57 TBX1 EYA1
8 nucleotide biosynthetic process GO:0009165 9.56 PRPS1L1 PRPS1
9 gap junction assembly GO:0016264 9.55 GJB6 GJB2
10 outer ear morphogenesis GO:0042473 9.54 TBX1 EYA1
11 cell communication by electrical coupling GO:0010644 9.52 GJB6 GJB2
12 ribonucleoside monophosphate biosynthetic process GO:0009156 9.51 PRPS1L1 PRPS1
13 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.48 TBX1 POU3F4
14 gap junction-mediated intercellular transport GO:1990349 9.46 GJB6 GJB2
15 inner ear development GO:0048839 9.46 POU4F3 POU3F4 GJB6 GJB2
16 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 9.43 PRPS1L1 PRPS1
17 cochlea morphogenesis GO:0090103 9.43 TBX1 POU3F4 EYA1
18 semicircular canal morphogenesis GO:0048752 9.37 TBX1 EYA1
19 cellular biosynthetic process GO:0044249 9.32 PRPS1L1 PRPS1
20 sensory perception of sound GO:0007605 9.17 TBX1 SLC26A4 POU4F3 POU3F4 GJB6 GJB2
21 ear morphogenesis GO:0042471 9.13 TBX1 GJB6 EYA1

Molecular functions related to Deafness, X-Linked 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribose phosphate diphosphokinase activity GO:0004749 9.16 PRPS1L1 PRPS1
2 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJB6 GJB2
3 gap junction channel activity GO:0005243 8.8 GJB6 GJB3 GJB2
Sources

Sources for Deafness, X-Linked 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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