• Gene id: 9381

Gene Summary

• Gene Symbol: OTOF   Gene   UCSC   Ensembl
• Aliases: AUNB1, DFNB6, DFNB9, FER1L2, NSRD9
• Gene name: otoferlin
• Alternate names: otoferlin, fer-1-like family member 2, fer-1-like protein 2,
• Gene location: 2p23.3 (26558755: 26457202)     Exons: 48     NC_000002.12
• Gene summary(Entrez): Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and
• OMIM: 603681

Protein Summary

• Protein general information: Q9HC10  
  • Name: Otoferlin (Fer 1 like protein 2)
  • Length: 1997  
  • Mass: 226753
  • Tissue specificity: Isoform 1 and isoform 3 are found in adult brain. Isoform 2 is expressed in the fetus and in adult brain, heart, placenta, skeletal muscle and kidney.
• Sequence:

  MALLIHLKTVSELRGRGDRIAKVTFRGQSFYSRVLENCEDVADFDETFRWPVASSIDRNEMLEIQVFNYSKVFSN
  KLIGTFRMVLQKVVEESHVEVTDTLIDDNNAIIKTSLCVEVRYQATDGTVGSWDDGDFLGDESLQEEEKDSQETD
  GLLPGSRPSSRPPGEKSFRRAGRSVFSAMKLGKNRSHKEEPQRPDEPAVLEMEDLDHLAIRLGDGLDPDSVSLAS
  VTALTTNVSNKRSKPDIKMEPSAGRPMDYQVSITVIEARQLVGLNMDPVVCVEVGDDKKYTSMKESTNCPYYNEY
  FVFDFHVSPDVMFDKIIKISVIHSKNLLRSGTLVGSFKMDVGTVYSQPEHQFHHKWAILSDPDDISSGLKGYVKC
  DVAVVGKGDNIKTPHKANETDEDDIEGNLLLPEGVPPERQWARFYVKIYRAEGLPRMNTSLMANVKKAFIGENKD
  LVDPYVQVFFAGQKGKTSVQKSSYEPLWNEQVVFTDLFPPLCKRMKVQIRDSDKVNDVAIGTHFIDLRKISNDGD
  KGFLPTLGPAWVNMYGSTRNYTLLDEHQDLNEGLGEGVSFRARLLLGLAVEIVDTSNPELTSSTEVQVEQATPIS
  ESCAGKMEEFFLFGAFLEASMIDRRNGDKPITFEVTIGNYGNEVDGLSRPQRPRPRKEPGDEEEVDLIQNASDDE
  AGDAGDLASVSSTPPMRPQVTDRNYFHLPYLERKPCIYIKSWWPDQRRRLYNANIMDHIADKLEEGLNDIQEMIK
  TEKSYPERRLRGVLEELSCGCCRFLSLADKDQGHSSRTRLDRERLKSCMRELENMGQQARMLRAQVKRHTVRDKL
  RLCQNFLQKLRFLADEPQHSIPDIFIWMMSNNKRVAYARVPSKDLLFSIVEEETGKDCAKVKTLFLKLPGKRGFG
  SAGWTVQAKVELYLWLGLSKQRKEFLCGLPCGFQEVKAAQGLGLHAFPPVSLVYTKKQAFQLRAHMYQARSLFAA
  DSSGLSDPFARVFFINQSQCTEVLNETLCPTWDQMLVFDNLELYGEAHELRDDPPIIVIEIYDQDSMGKADFMGR
  TFAKPLVKMADEAYCPPRFPPQLEYYQIYRGNATAGDLLAAFELLQIGPAGKADLPPINGPVDVDRGPIMPVPMG
  IRPVLSKYRVEVLFWGLRDLKRVNLAQVDRPRVDIECAGKGVQSSLIHNYKKNPNFNTLVKWFEVDLPENELLHP
  PLNIRVVDCRAFGRYTLVGSHAVSSLRRFIYRPPDRSAPSWNTTVRLLRRCRVLCNGGSSSHSTGEVVVTMEPEV
  PIKKLETMVKLDATSEAVVKVDVAEEEKEKKKKKKGTAEEPEEEEPDESMLDWWSKYFASIDTMKEQLRQQEPSG
  IDLEEKEEVDNTEGLKGSMKGKEKARAAKEEKKKKTQSSGSGQGSEAPEKKKPKIDELKVYPKELESEFDNFEDW
  LHTFNLLRGKTGDDEDGSTEEERIVGRFKGSLCVYKVPLPEDVSREAGYDSTYGMFQGIPSNDPINVLVRVYVVR
  ATDLHPADINGKADPYIAIRLGKTDIRDKENYISKQLNPVFGKSFDIEASFPMESMLTVAVYDWDLVGTDDLIGE
  TKIDLENRFYSKHRATCGIAQTYSTHGYNIWRDPMKPSQILTRLCKDGKVDGPHFGPPGRVKVANRVFTGPSEIE
  DENGQRKPTDEHVALLALRHWEDIPRAGCRLVPEHVETRPLLNPDKPGIEQGRLELWVDMFPMDMPAPGTPLDIS
  PRKPKKYELRVIIWNTDEVVLEDDDFFTGEKSSDIFVRGWLKGQQEDKQDTDVHYHSLTGEGNFNWRYLFPFDYL
  AAEEKIVISKKESMFSWDETEYKIPARLTLQIWDADHFSADDFLGAIELDLNRFPRGAKTAKQCTMEMATGEVDV
  PLVSIFKQKRVKGWWPLLARNENDEFELTGKVEAELHLLTAEEAEKNPVGLARNEPDPLEKPNRPDTSFIWFLNP
  LKSARYFLWHTYRWLLLKLLLLLLLLLLLALFLYSVPGYLVKKILGA

• Structural information:
  • Protein Domains: (1..9-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (236..35-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (400..53-)
    (/note="C2-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (94-)
  • Interpro: IPR000008  IPR035892  IPR037726  IPR037720  IPR037722   IPR037723  IPR037724  IPR037725  IPR012968  IPR037721  IPR012561  IPR032362  IPR029996  
  • Prosite: PS50004
  • CDD: cd08373 cd04011 cd04018 cd04017 cd04037 cd08374
  • STRING: ENSP00000272371
• Other Databases: GeneCards:  OTOF  Malacards:  OTOF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IBA	molecular function
GO:0016082	synaptic vesicle priming	IBA	biological process
GO:0035612	AP-2 adaptor complex binding	IBA	molecular function
GO:0048787	presynaptic active zone membrane	IBA	cellular component
GO:0007009	plasma membrane organization	IBA	biological process
GO:0030672	synaptic vesicle membrane	IBA	cellular component
GO:0016079	synaptic vesicle exocytosis	ISS	biological process
GO:0005509	calcium ion binding	ISS	molecular function
GO:0030672	synaptic vesicle membrane	ISS	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016079	synaptic vesicle exocytosis	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007605	sensory perception of sound	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061025	membrane fusion	TAS	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Autosomal recessive nonsyndromic deafness 9	PMID:12114484
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R