Associated with
Other Information
Genular Protein ID: 1145601721
Symbol: OTOF_HUMAN
Name: Otoferlin
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10192385
Title: A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
PubMed ID: 10192385
DOI: 10.1038/7693
PubMed ID: 10903124
Title: OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.
PubMed ID: 10903124
DOI: 10.1086/303049
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 12114484
Title: Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
PubMed ID: 12114484
DOI: 10.1136/jmg.39.7.502
PubMed ID: 12127154
Title: Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.
PubMed ID: 12127154
PubMed ID: 16097006
Title: A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.
PubMed ID: 16097006
DOI: 10.1002/ajmg.a.30907
PubMed ID: 16283880
Title: Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.
PubMed ID: 16283880
PubMed ID: 16371502
Title: OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
PubMed ID: 16371502
PubMed ID: 16959974
Title: The consensus coding sequences of human breast and colorectal cancers.
PubMed ID: 16959974
PubMed ID: 18381613
Title: A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
PubMed ID: 18381613
DOI: 10.1002/humu.20708
PubMed ID: 26437881
Title: Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.
PubMed ID: 26437881
DOI: 10.1002/ajmg.a.37421
PubMed ID: 27535533
Title: Analysis of protein-coding genetic variation in 60,706 humans.
PubMed ID: 27535533
DOI: 10.1038/nature19057
Sequence Information:
- Length: 1997
- Mass: 226753
- Checksum: 24DE196371FB7385
- Sequence:
MALLIHLKTV SELRGRGDRI AKVTFRGQSF YSRVLENCED VADFDETFRW PVASSIDRNE MLEIQVFNYS KVFSNKLIGT FRMVLQKVVE ESHVEVTDTL IDDNNAIIKT SLCVEVRYQA TDGTVGSWDD GDFLGDESLQ EEEKDSQETD GLLPGSRPSS RPPGEKSFRR AGRSVFSAMK LGKNRSHKEE PQRPDEPAVL EMEDLDHLAI RLGDGLDPDS VSLASVTALT TNVSNKRSKP DIKMEPSAGR PMDYQVSITV IEARQLVGLN MDPVVCVEVG DDKKYTSMKE STNCPYYNEY FVFDFHVSPD VMFDKIIKIS VIHSKNLLRS GTLVGSFKMD VGTVYSQPEH QFHHKWAILS DPDDISSGLK GYVKCDVAVV GKGDNIKTPH KANETDEDDI EGNLLLPEGV PPERQWARFY VKIYRAEGLP RMNTSLMANV KKAFIGENKD LVDPYVQVFF AGQKGKTSVQ KSSYEPLWNE QVVFTDLFPP LCKRMKVQIR DSDKVNDVAI GTHFIDLRKI SNDGDKGFLP TLGPAWVNMY GSTRNYTLLD EHQDLNEGLG EGVSFRARLL LGLAVEIVDT SNPELTSSTE VQVEQATPIS ESCAGKMEEF FLFGAFLEAS MIDRRNGDKP ITFEVTIGNY GNEVDGLSRP QRPRPRKEPG DEEEVDLIQN ASDDEAGDAG DLASVSSTPP MRPQVTDRNY FHLPYLERKP CIYIKSWWPD QRRRLYNANI MDHIADKLEE GLNDIQEMIK TEKSYPERRL RGVLEELSCG CCRFLSLADK DQGHSSRTRL DRERLKSCMR ELENMGQQAR MLRAQVKRHT VRDKLRLCQN FLQKLRFLAD EPQHSIPDIF IWMMSNNKRV AYARVPSKDL LFSIVEEETG KDCAKVKTLF LKLPGKRGFG SAGWTVQAKV ELYLWLGLSK QRKEFLCGLP CGFQEVKAAQ GLGLHAFPPV SLVYTKKQAF QLRAHMYQAR SLFAADSSGL SDPFARVFFI NQSQCTEVLN ETLCPTWDQM LVFDNLELYG EAHELRDDPP IIVIEIYDQD SMGKADFMGR TFAKPLVKMA DEAYCPPRFP PQLEYYQIYR GNATAGDLLA AFELLQIGPA GKADLPPING PVDVDRGPIM PVPMGIRPVL SKYRVEVLFW GLRDLKRVNL AQVDRPRVDI ECAGKGVQSS LIHNYKKNPN FNTLVKWFEV DLPENELLHP PLNIRVVDCR AFGRYTLVGS HAVSSLRRFI YRPPDRSAPS WNTTVRLLRR CRVLCNGGSS SHSTGEVVVT MEPEVPIKKL ETMVKLDATS EAVVKVDVAE EEKEKKKKKK GTAEEPEEEE PDESMLDWWS KYFASIDTMK EQLRQQEPSG IDLEEKEEVD NTEGLKGSMK GKEKARAAKE EKKKKTQSSG SGQGSEAPEK KKPKIDELKV YPKELESEFD NFEDWLHTFN LLRGKTGDDE DGSTEEERIV GRFKGSLCVY KVPLPEDVSR EAGYDSTYGM FQGIPSNDPI NVLVRVYVVR ATDLHPADIN GKADPYIAIR LGKTDIRDKE NYISKQLNPV FGKSFDIEAS FPMESMLTVA VYDWDLVGTD DLIGETKIDL ENRFYSKHRA TCGIAQTYST HGYNIWRDPM KPSQILTRLC KDGKVDGPHF GPPGRVKVAN RVFTGPSEIE DENGQRKPTD EHVALLALRH WEDIPRAGCR LVPEHVETRP LLNPDKPGIE QGRLELWVDM FPMDMPAPGT PLDISPRKPK KYELRVIIWN TDEVVLEDDD FFTGEKSSDI FVRGWLKGQQ EDKQDTDVHY HSLTGEGNFN WRYLFPFDYL AAEEKIVISK KESMFSWDET EYKIPARLTL QIWDADHFSA DDFLGAIELD LNRFPRGAKT AKQCTMEMAT GEVDVPLVSI FKQKRVKGWW PLLARNENDE FELTGKVEAE LHLLTAEEAE KNPVGLARNE PDPLEKPNRP DTSFIWFLNP LKSARYFLWH TYRWLLLKLL LLLLLLLLLA LFLYSVPGYL VKKILGA
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.