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Gene Family: Deafness associated genes (DFN)

Genes contained within the family: 163

Approved Symbol Approved Name Previous Symbols Synonyms Chromosome
DIAPH1 diaphanous related formin 1 DFNA1 hDIA1, LFHL1 5q31.3
GJB3 gap junction protein beta 3 DFNA2, EKV CX31 1p34.3
KCNQ4 potassium voltage-gated channel subfamily Q member 4 DFNA2 Kv7.4 1p34.2
GJB2 gap junction protein beta 2 DFNA3, DFNB1 CX26, NSRD1 13q12.11
GJB6 gap junction protein beta 6 DFNA3, ED2 EDH, HED, CX30 13q12.11
MYH14 myosin heavy chain 14 DFNA4 FLJ13881, KIAA2034, MHC16, MYH17 19q13.33
CEACAM16 carcinoembryonic antigen related cell adhesion molecule 16 DFNA4B 19q13.31-q13.32
GSDME gasdermin E DFNA5 ICERE-1 7p15.3
WFS1 wolframin ER transmembrane glycoprotein DFNA14, DFNA6, DFNA38 DIDMOAD, WFS 4p16.1
DFNA7 deafness, autosomal dominant 7 1q21-q23
TECTA tectorin alpha DFNA8, DFNB21, DFNA12 11q23.3
COCH cochlin DFNA9, DFNA31 COCH-5B2 14q12
EYA4 EYA transcriptional coactivator and phosphatase 4 DFNA10, CMD1J 6q23.2
MYO7A myosin VIIA USH1B, DFNA11, DFNB2 NSRD2 11q13.5
COL11A2 collagen type XI alpha 2 chain DFNB53, DFNA13 HKE5 6p21.32
POU4F3 POU class 4 homeobox 3 DFNA42, DFNA52, DFNA15 BRN3C 5q32
DFNA16 deafness, autosomal dominant 16 2q24
MYH9 myosin heavy chain 9 DFNA17 NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS 22q12.3
DFNA18 deafness, autosomal dominant 18 3q22
DFNA19 deafness, autosomal dominant 19 10
ACTG1 actin gamma 1 DFNA20, DFNA26, ACTG 17q25.3
DFNA21 deafness, autosomal dominant 21 6p24.1-p22.3
MYO6 myosin VI DFNB37, DFNA22 KIAA0389 6q14.1
SIX1 SIX homeobox 1 DFNA23 14q23.1
DFNA24 deafness, autosomal dominant 24 4q35-qter
SLC17A8 solute carrier family 17 member 8 DFNA25 VGLUT3 12q23.1
DFNA27 deafness, autosomal dominant 27 4q12-q13.1
GRHL2 grainyhead like transcription factor 2 DFNA28, TFCP2L3 FLJ13782, BOM 8q22.3
DFNA29 deafness, autosomal dominant 29 reserved
DFNA30 deafness, autosomal dominant 30 15q25-q26
DFNA31 deafness, autosomal dominant 31 6p21
DFNA32 deafness, autosomal dominant 32 11p15
DFNA33 deafness, autosomal dominant 33 13q34-qter
DFNA34 deafness, autosomal dominant 34 1q44
DFNA35 deafness, autosomal dominant 35 reserved
TMC1 transmembrane channel like 1 DFNB11, DFNA36, DFNB7 9q21.13
DFNA37 deafness, autosomal dominant 37 1p21
DSPP dentin sialophosphoprotein DFNA39, DGI1 DMP3 4q22.1
DFNA40 deafness, autosomal dominant 40 16p12
P2RX2 purinergic receptor P2X 2 DFNA41 P2X2 12q24.33
DFNA42 deafness, autosomal dominant 42 DFNA52 5q31.1-q32
DFNA43 deafness, autosomal dominant 43 2p12-p11.1
CCDC50 coiled-coil domain containing 50 C3orf6, DFNA44 Ymer 3q28
DFNA45 deafness, autosomal dominant 45 reserved
DFNA46 deafness, autosomal dominant 46 reserved
DFNA47 deafness, autosomal dominant 47 9p22-p21
DFNA48 deafness, autosomal dominant 48 12q13-q14
DFNA49 deafness, autosomal dominant 49 1q23.2-q23.3
MIR96 microRNA 96 DFNA50, MIRN96 hsa-mir-96 7q32.2
TJP2 tight junction protein 2 DFNA51 ZO-2, X104, ZO2 9q21.11
DFNA53 deafness, autosomal dominant 53 14q11-q12
DFNA54 deafness, autosomal dominant 54 5q31
DFNA55 deafness, autosomal dominant 55 9p13.3.-p13.2
TNC tenascin C HXB, DFNA56 TN, MGC167029 9q33.1
DFNA57 deafness, autosomal dominant 57 19p13.2
DFNA58 deafness, autosomal dominant 58 2p21-p12
DFNA59 deafness, autosomal dominant 59 11p14.2-q12.3
DFNA60 deafness, autosomal dominant 60 2q22.1-q24.1
DFNA61 deafness, autosomal dominant 61 reserved
DFNA62 deafness, autosomal dominant 62 reserved
DFNA63 deafness, autosomal dominant 63 3q25.1-q25.2
DIABLO diablo IAP-binding mitochondrial protein FLJ25049, FLJ10537, DIABLO-S, SMAC, DFNA64 12q24.31
TBC1D24 TBC1 domain family member 24 DFNB86 DFNA65, KIAA1171, TLDC6 16p13.3
CD164 CD164 molecule MUC-24, DFNA66, MGC-24 6q21
OSBPL2 oxysterol binding protein like 2 KIAA0772, ORP-2, DFNA67 20q13.33
HOMER2 homer scaffolding protein 2 DFNA68, HOMER-2A, Vesl-2, HOMER-2B, Cupidin, HOMER-2, CPD 15q25.2
KITLG KIT ligand MGF SLF, SCF, SF, FPH2, DFNA69, KL-1, Kitl 12q21.32
MCM2 minichromosome maintenance complex component 2 CCNL1, CDCL1 DFNA70, KIAA0030, D3S3194, BM28, cdc19 3q21.3
DMXL2 Dmx like 2 KIAA0856, RC3, DFNA71 15q21.2
SLC44A4 solute carrier family 44 member 4 C6orf29 FLJ14491, NG22, DFNA72, TPPT, CTL4 6p21.33
MYO15A myosin XVA MYO15, DFNB3 17p11.2
SLC26A4 solute carrier family 26 member 4 DFNB4 PDS 7q22.3
DFNB5 deafness, autosomal recessive 5 14q12
OTOF otoferlin DFNB9 DFNB6, FER1L2 2p23.3
TMIE transmembrane inner ear DFNB6 3p21.31
TMPRSS3 transmembrane protease, serine 3 DFNB8, DFNB10 21q22.3
CDH23 cadherin related 23 DFNB12, USH1D CDHR23 10q22.1
DFNB13 deafness, autosomal recessive 13 7q34-q36
DFNB14 deafness, autosomal recessive 14 7q31
GIPC3 GIPC PDZ domain containing family member 3 DFNB72, C19orf64, DFNB15 DFNB95 19p13.3
STRC stereocilin DFNB16 15q15.3
DFNB17 deafness, autosomal recessive 17 7q31
USH1C USH1 protein network component harmonin DFNB18 PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C 11p15.1
DFNB19 deafness, autosomal recessive 19 18p11
DFNB20 deafness, autosomal recessive 20 11q25-qter
OTOA otoancorin DFNB22 CT108 16p12.2
PCDH15 protocadherin related 15 USH1F, DFNB23 CDHR15 10q21.1
RDX radixin DFNB24 11q23
GRXCR2 glutaredoxin and cysteine rich domain containing 2 DFNB101 5q32
DFNB26 deafness, autosomal recessive 26 4q31
DFNB27 deafness, autosomal recessive 27 2q24
TRIOBP TRIO and F-actin binding protein DFNB28 HRIHFB2122, KIAA1662, Tara, TAP68 22q13.1
CLDN14 claudin 14 DFNB29 21q22.13
MYO3A myosin IIIA DFNB30 10p12.1
WHRN whirlin DFNB31 CIP98, USH2D, PDZD7B 9q32
DFNB32 deafness, autosomal recessive 32 1p22.1-p13.3
DFNB33 deafness, autosomal recessive 33 10p11.23-q21.1
DFNB34 deafness, autosomal recessive 34 3p22.1
ESRRB estrogen related receptor beta ESRL2, DFNB35 ERR2, ERRbeta, NR3B2, ERRb 14q24.3
ESPN espin DFNB36 1p36.31
DFNB38 deafness, autosomal recessive 38 6q25.3-q27
HGF hepatocyte growth factor DFNB39 SF, F-TCF, HGFB, HPTA 7q21.11
DFNB40 deafness, autosomal recessive 40 22q11.21-q12.1
ILDR1 immunoglobulin like domain containing receptor 1 DFNB42 MGC50831 3q13.33
DFNB43 deafness, autosomal recessive 43 15q24.1-q25.2
ADCY1 adenylate cyclase 1 DFNB44 AC1 7p12.3
DFNB45 deafness, autosomal recessive 45 1q43-q44
DFNB46 deafness, autosomal recessive 46 18p11.32-p11.31
DFNB47 deafness, autosomal recessive 47 2p25.3-p24.2
CIB2 calcium and integrin binding family member 2 USH1J, DFNB48 KIP2 15q25.1
MARVELD2 MARVEL domain containing 2 DFNB49, MRVLDC2 FLJ30532, TRIC 5q13.2
DFNB50 deafness, autosomal recessive 50 12q23-qter
DFNB51 deafness, autosomal recessive 51 11p13-p12
DFNB54 deafness, autosomal recessive 54 1p34.2-p32.1
DFNB55 deafness, autosomal recessive 55 4q12-q13.2
DFNB56 deafness, autosomal recessive 56 reserved
PDZD7 PDZ domain containing 7 PDZK7, DFNB57 FLJ23209, bA108L7.8 10q24.31
DFNB58 deafness, autosomal recessive 58 2q14.2-q14.3
PJVK pejvakin DFNB59 2q31.2
SLC22A4 solute carrier family 22 member 4 DFNB60 OCTN1, MGC34546 5q31.1
SLC26A5 solute carrier family 26 member 5 PRES DFNB61 7q22.1
DFNB62 deafness, autosomal recessive 62 12p13.2-p11.23
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing DFNB63, LRRC51 COMT2, CFAP111 11q13.4
DFNB65 deafness, autosomal recessive 65 20q13.2-q13.32
DCDC2 doublecortin domain containing 2 DFNB66 RU2, KIAA1154, DCDC2A, NPHP19 6p22.3
LHFPL5 LHFPL tetraspan subfamily member 5 DFNB67 MGC33835, dJ510O8.8, Tmhs 6p21.31
S1PR2 sphingosine-1-phosphate receptor 2 DFNB68, EDG5 Gpcr13, H218, AGR16 19p13.2
DFNB69 deafness, autosomal recessive 69 reserved
PNPT1 polyribonucleotide nucleotidyltransferase 1 DFNB70 PNPase, OLD35, old-35 2p16.1
DFNB71 deafness, autosomal recessive 71 8p22-p21.3
BSND barttin CLCNK type accessory beta subunit DFNB73 BART 1p32.3
MSRB3 methionine sulfoxide reductase B3 DFNB74 FLJ36866, DKFZp686C1178 12q14.3
DFNB75 deafness, autosomal recessive 75 reserved
SYNE4 spectrin repeat containing nuclear envelope family member 4 C19orf46, DFNB76 FLJ36445, Nesprin-4, Nesp4 19q13.12
LOXHD1 lipoxygenase homology domains 1 DFNB77 FLJ32670, LH2D1 18q21.1
DFNB78 deafness, autosomal recessive 78 reserved
TPRN taperin DFNB79, C9orf75 FLJ90254 9q34.3
DFNB80 deafness, autosomal recessive 80 2p21-p16.1
DFNB81 deafness, autosomal recessive 81 19p13.3-p13.11
GPSM2 G protein signaling modulator 2 DFNB82 LGN, Pins 1p13.3
DFNB83 deafness, autosomal recessive 83 9p23-p21.2
PTPRQ protein tyrosine phosphatase, receptor type Q DFNB84 12q21.31
DFNB85 deafness, autosomal recessive 85 17p12-q11.2
DFNB87 deafness, autosomal recessive 87 reserved
ELMOD3 ELMO domain containing 3 DFNB88, RBED1, RBM29 FLJ21977 2p11.2
KARS lysyl-tRNA synthetase DFNB89 KARS2, KARS1 16q23.1
DFNB90 deafness, autosomal recessive 90 7p22.1-p15.3
SERPINB6 serpin family B member 6 DFNB91, PI6 PTI, CAP 6p25.2
DFNB92 deafness, autosomal recessive 92 reserved
NARS2 asparaginyl-tRNA synthetase 2, mitochondrial DFNB94 FLJ23441, SLM5 11q14.1
DFNB96 deafness, autosomal recessive 96 1p36.31-p36.13
MET MET proto-oncogene, receptor tyrosine kinase RCCP2, HGFR, DFNB97 7q31
TSPEAR thrombospondin type laminin G domain and EAR repeats C21orf29, DFNB98 MGC11251, TSP-EAR 21q22.3
TMEM132E transmembrane protein 132E DFNB99 17q12
DFNB100 deafness, autosomal recessive 100 reserved
CLIC5 chloride intracellular channel 5 DFNB102 6p21.1
PRPS1 phosphoribosyl pyrophosphate synthetase 1 DFN2 DFNX1, CMTX5 Xq22.3
POU3F4 POU class 3 homeobox 4 DFN3 BRN4, DFNX2, OTF9 Xq21.1
DFNX3 deafness, X-linked 3 DFN4 Xp21.2
SMPX small muscle protein, X-linked DFN6 DFNX4 Xp22.12
AUNX1 auditory neuropathy, X-linked recessive 1 DFNX5 Xq23-q27.3
DFN5 deafness, X-linked 5 reserved
DFN8 deafness, X-linked 8 reserved

Comments

This page lists all the loci named by the HGNC in the DFN/DFNA/DFNB/DFNX deafness series. For cases where the DFN# symbol has been withdrawn because causative mutations have been found, the causative gene is listed on this page, along with the original DFN# symbol(s) in the "previous symbols" field.