Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9381
Gene name	Otoferlin
Gene symbol	OTOF
Synonyms (NCBI Gene)	AUNB1DFNB6DFNB9FER1L2NSRD9
Chromosome	2
Chromosome location	2p23.3
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28937591	G>C	Pathogenic	Coding sequence variant, missense variant
rs80356576	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, missense variant
rs80356584	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs80356585	G>A,C,T	Uncertain-significance, pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs80356586	A>G	Pathogenic, likely-pathogenic, association	Coding sequence variant, genic upstream transcript variant, missense variant
rs80356587	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs80356588	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs80356589	C>A	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs80356590	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, upstream transcript variant, stop gained, genic upstream transcript variant
rs80356591	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs80356593	G>A	Pathogenic, association	Coding sequence variant, stop gained
rs80356594	C>T	Pathogenic	Splice donor variant
rs80356595	G>A	Pathogenic	Coding sequence variant, stop gained
rs80356596	A>G	Pathogenic	Coding sequence variant, missense variant
rs80356597	T>G	Pathogenic	Splice acceptor variant
rs80356598	C>T	Pathogenic	Coding sequence variant, stop gained
rs80356599	A>C	Pathogenic	Splice donor variant
rs80356600	A>T	Pathogenic	Coding sequence variant, stop gained
rs80356602	C>G	Pathogenic	Splice donor variant
rs80356604	C>T	Pathogenic	Splice donor variant
rs80356605	C>G,T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs80356606	G>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs111033330	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs111033341	A>C	Uncertain-significance, likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs111033342	C>A,T	Likely-pathogenic	Splice acceptor variant
rs111033349	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs111033370	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs111033373	C>T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs111033383	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs111033384	C>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs111033405	A>G	Likely-pathogenic, association	Coding sequence variant, missense variant
rs111033446	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs111033447	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant
rs111033455	T>C	Likely-pathogenic	Splice acceptor variant
rs121908598	G>C	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs139525746	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs139779680	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, genic upstream transcript variant
rs141235641	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Coding sequence variant, synonymous variant
rs143141993	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Intron variant, missense variant, coding sequence variant
rs143939430	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs144800506	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147321712	G>A,T	Likely-benign, pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, stop gained
rs149766574	C>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, missense variant, coding sequence variant
rs150452778	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs181805996	A>T	Pathogenic, likely-benign	Missense variant, genic upstream transcript variant, coding sequence variant
rs186810296	C>A,T	Uncertain-significance, pathogenic, benign	Splice donor variant
rs199766465	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199848801	G>A	Pathogenic	Coding sequence variant, stop gained
rs200147906	C>G,T	Pathogenic	Splice donor variant
rs201326023	C>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs201329629	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs201613240	T>G	Likely-pathogenic	Splice acceptor variant
rs202086317	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, genic upstream transcript variant
rs368148603	TCTTCT>-,TCT,TCTTCTTCT,TCTTCTTCTTCT	Likely-pathogenic, uncertain-significance	Coding sequence variant, inframe deletion, inframe insertion
rs368790049	G>A	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs370132645	A>C	Pathogenic	Splice donor variant
rs370609551	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs372713647	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs397515435	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs397515579	CC>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs397515580	->C	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs397515581	G>-,GG	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs397515582	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs397515583	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs397515584	C>G,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, stop gained
rs397515585	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs397515586	A>C	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs397515587	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs397515588	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs397515589	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs397515590	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs397515591	C>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs397515592	G>T	Pathogenic	Coding sequence variant, stop gained
rs397515593	G>A,T	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs397515594	CC>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515595	->AGCT	Pathogenic	Coding sequence variant, frameshift variant
rs397515596	CGGCAAAGAGGCTGCGGGC>TGCGCTCGGAG	Pathogenic	Coding sequence variant, frameshift variant
rs397515597	CT>-	Association, pathogenic	Coding sequence variant, frameshift variant
rs397515598	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs397515599	A>G	Pathogenic	Coding sequence variant, missense variant
rs397515600	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs397515601	C>A	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs397515602	C>A	Pathogenic	Coding sequence variant, stop gained
rs397515604	->A	Pathogenic	Coding sequence variant, frameshift variant
rs397515605	C>T	Pathogenic	Coding sequence variant, missense variant
rs397515606	A>C	Pathogenic	Coding sequence variant, missense variant
rs397515607	TCC>-	Association, likely-pathogenic	Coding sequence variant, inframe deletion
rs397515608	C>T	Pathogenic	Coding sequence variant, missense variant
rs397515609	->G	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs397515610	G>A,C,T	Pathogenic	Stop gained, genic upstream transcript variant, missense variant, coding sequence variant, synonymous variant
rs397515611	C>A,G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs483353049	C>A,G	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs483353050	T>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs530821443	G>A	Pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs727503352	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs727504639	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs727504936	G>A	Pathogenic	Stop gained, coding sequence variant
rs727505359	C>-	Likely-pathogenic	3 prime UTR variant, coding sequence variant, frameshift variant
rs753580324	G>A,C	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs758918226	C>T	Pathogenic	Splice donor variant
rs781688103	G>A	Pathogenic	Coding sequence variant, missense variant
rs879255246	C>G,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518840	T>C	Likely-pathogenic	Splice acceptor variant
rs1060499805	G>A	Pathogenic	Coding sequence variant, stop gained
rs1064795233	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, stop gained
rs1064795376	ACTGAAGTCTTGC>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1207102900	A>G	Pathogenic	Stop lost, intron variant, terminator codon variant
rs1274464930	C>G,T	Pathogenic	Splice donor variant
rs1403112959	A>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1443739332	TTAGAAATCTTGCGCA>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1553353527	CCGAGGCCGCTGGGGCCGGG>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant
rs1553356452	C>T	Pathogenic	Genic upstream transcript variant, intron variant
rs1558464965	C>A	Pathogenic	Coding sequence variant, missense variant
rs1558472243	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1558480402	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1558482554	C>A	Pathogenic	Stop gained, coding sequence variant
rs1558485249	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558488902	A>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1558489384	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1558490542	A>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1558492758	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1572399804	C>-	Pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT718121	hsa-miR-6736-3p	HITS-CLIP	19536157
MIRT718120	hsa-miR-4267	HITS-CLIP	19536157
MIRT718119	hsa-miR-1184	HITS-CLIP	19536157
MIRT718118	hsa-miR-4640-5p	HITS-CLIP	19536157
MIRT718117	hsa-miR-4726-5p	HITS-CLIP	19536157
MIRT718116	hsa-miR-7977	HITS-CLIP	19536157
MIRT718121	hsa-miR-6736-3p	HITS-CLIP	19536157
MIRT718120	hsa-miR-4267	HITS-CLIP	19536157
MIRT718119	hsa-miR-1184	HITS-CLIP	19536157
MIRT718118	hsa-miR-4640-5p	HITS-CLIP	19536157
MIRT718117	hsa-miR-4726-5p	HITS-CLIP	19536157
MIRT718116	hsa-miR-7977	HITS-CLIP	19536157
MIRT1207201	hsa-miR-1207-5p	CLIP-seq
MIRT1207202	hsa-miR-1224-5p	CLIP-seq
MIRT1207203	hsa-miR-1254	CLIP-seq
MIRT1207204	hsa-miR-1908	CLIP-seq
MIRT1207205	hsa-miR-1909	CLIP-seq
MIRT1207206	hsa-miR-2861	CLIP-seq
MIRT1207207	hsa-miR-3064-5p	CLIP-seq
MIRT1207208	hsa-miR-3116	CLIP-seq
MIRT1207209	hsa-miR-3150a-3p	CLIP-seq
MIRT1207210	hsa-miR-3175	CLIP-seq
MIRT1207211	hsa-miR-3197	CLIP-seq
MIRT1207212	hsa-miR-34a	CLIP-seq
MIRT1207213	hsa-miR-34c-5p	CLIP-seq
MIRT1207214	hsa-miR-3612	CLIP-seq
MIRT1207215	hsa-miR-3652	CLIP-seq
MIRT1207216	hsa-miR-3689a-3p	CLIP-seq
MIRT1207217	hsa-miR-3689c	CLIP-seq
MIRT1207218	hsa-miR-4254	CLIP-seq
MIRT1207219	hsa-miR-4300	CLIP-seq
MIRT1207220	hsa-miR-4430	CLIP-seq
MIRT1207221	hsa-miR-4443	CLIP-seq
MIRT1207222	hsa-miR-4446-3p	CLIP-seq
MIRT1207223	hsa-miR-4492	CLIP-seq
MIRT1207224	hsa-miR-4498	CLIP-seq
MIRT1207225	hsa-miR-449a	CLIP-seq
MIRT1207226	hsa-miR-449b	CLIP-seq
MIRT1207227	hsa-miR-4505	CLIP-seq
MIRT1207228	hsa-miR-4651	CLIP-seq
MIRT1207229	hsa-miR-4667-5p	CLIP-seq
MIRT1207230	hsa-miR-4700-5p	CLIP-seq
MIRT1207231	hsa-miR-4728-5p	CLIP-seq
MIRT1207232	hsa-miR-4731-5p	CLIP-seq
MIRT1207233	hsa-miR-4751	CLIP-seq
MIRT1207234	hsa-miR-4763-3p	CLIP-seq
MIRT1207235	hsa-miR-486-3p	CLIP-seq
MIRT1207236	hsa-miR-608	CLIP-seq
MIRT1207237	hsa-miR-650	CLIP-seq
MIRT1207238	hsa-miR-661	CLIP-seq
MIRT1207239	hsa-miR-663	CLIP-seq
MIRT1207240	hsa-miR-762	CLIP-seq
MIRT1207241	hsa-miR-920	CLIP-seq
MIRT1207242	hsa-miR-939	CLIP-seq
MIRT1207202	hsa-miR-1224-5p	CLIP-seq
MIRT1207209	hsa-miR-3150a-3p	CLIP-seq
MIRT1207210	hsa-miR-3175	CLIP-seq
MIRT1207212	hsa-miR-34a	CLIP-seq
MIRT1207213	hsa-miR-34c-5p	CLIP-seq
MIRT1207225	hsa-miR-449a	CLIP-seq
MIRT1207226	hsa-miR-449b	CLIP-seq
MIRT1207233	hsa-miR-4751	CLIP-seq
MIRT1207235	hsa-miR-486-3p	CLIP-seq
MIRT1207238	hsa-miR-661	CLIP-seq
MIRT1207242	hsa-miR-939	CLIP-seq
MIRT1207202	hsa-miR-1224-5p	CLIP-seq
MIRT1207212	hsa-miR-34a	CLIP-seq
MIRT1207213	hsa-miR-34c-5p	CLIP-seq
MIRT1207225	hsa-miR-449a	CLIP-seq
MIRT1207226	hsa-miR-449b	CLIP-seq
MIRT1207233	hsa-miR-4751	CLIP-seq
MIRT1207235	hsa-miR-486-3p	CLIP-seq
MIRT1207238	hsa-miR-661	CLIP-seq
MIRT1207202	hsa-miR-1224-5p	CLIP-seq
MIRT1207212	hsa-miR-34a	CLIP-seq
MIRT1207213	hsa-miR-34c-5p	CLIP-seq
MIRT1207225	hsa-miR-449a	CLIP-seq
MIRT1207226	hsa-miR-449b	CLIP-seq
MIRT1207233	hsa-miR-4751	CLIP-seq
MIRT1207235	hsa-miR-486-3p	CLIP-seq
MIRT1207238	hsa-miR-661	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	ISS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	26707827
GO:0005829	Component	Cytosol	TAS	10192385
GO:0005886	Component	Plasma membrane	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	TAS	10192385
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10192385
GO:0016079	Process	Synaptic vesicle exocytosis	ISS
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046928	Process	Regulation of neurotransmitter secretion	IBA
GO:0061025	Process	Membrane fusion	TAS	10192385

MIM	HGNC	e!Ensembl
603681	8515	ENSG00000115155

Q9HC10

Protein name

Otoferlin (Fer-1-like protein 2)

Protein function

Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	5 → 100	C2 domain	Domain
PF00168	C2	254 → 357	C2 domain	Domain
PF08151	FerI	360 → 410	FerI (NUC094) domain	Domain
PF00168	C2	417 → 530	C2 domain	Domain
PF08150	FerB	842 → 917	FerB (NUC096) domain	Domain
PF00168	C2	960 → 1059	C2 domain	Domain
PF00168	C2	1492 → 1596	C2 domain	Domain
PF00168	C2	1732 → 1868	C2 domain	Domain
PF16165	Ferlin_C	1894 → 1994	Ferlin C-terminus	Family

Tissue specificity

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

MALLIHLKTVSELRGRGDRIAKVTFRGQSFYSRVLENCEDVADFDETFRWPVASSIDRNE
MLEIQVFNYSKVFSNKLIGTFRMVLQKVVEESHVEVTDTLIDDNNAIIKTSLCVEVRYQA
TDGTVGSWDDGDFLGDESLQEEEKDSQETDGLLPGSRPSSRPPGEKSFRRAGRSVFSAMK
LGKNRSHKEEPQRPDEPAVLEMEDLDHLAIRLGDGLDPDSVSLASVTALTTNVSNKRSKP
DIKMEPSAGRPMDYQVSITVIEARQLVGLNMDPVVCVEVGDDKKYTSMKESTNCPYYNEY
FVFDFHVSPDVMFDKIIKISVIHSKNLLRSGTLVGSFKMDVGTVYSQPEHQFHHKWAILS
DPDDISSGLKGYVKCDVAVVGKGDNIKTPHKANETDEDDIEGNLLLPEGVPPERQWARFY
VKIYRAEGLPRMNTSLMANVKKAFIGENKDLVDPYVQVFFAGQKGKTSVQKSSYEPLWNE
QVVFTDLFPPLCKRMKVQIRDSDKVNDVAIGTHFIDLRKISNDGDKGFLPTLGPAWVNMY
GSTRNYTLLDEHQDLNEGLGEGVSFRARLLLGLAVEIVDTSNPELTSSTEVQVEQATPIS
ESCAGKMEEFFLFGAFLEASMIDRRNGDKPITFEVTIGNYGNEVDGLSRPQRPRPRKEPG
DEEEVDLIQNASDDEAGDAGDLASVSSTPPMRPQVTDRNYFHLPYLERKPCIYIKSWWPD
QRRRLYNANIMDHIADKLEEGLNDIQEMIKTEKSYPERRLRGVLEELSCGCCRFLSLADK
DQGHSSRTRLDRERLKSCMRELENMGQQARMLRAQVKRHTVRDKLRLCQNFLQKLRFLAD
EPQHSIPDIFIWMMSNNKRVAYARVPSKDLLFSIVEEETGKDCAKVKTLFLKLPGKRGFG
SAGWTVQAKVELYLWLGLSKQRKEFLCGLPCGFQEVKAAQGLGLHAFPPVSLVYTKKQAF
QLRAHMYQARSLFAADSSGLSDPFARVFFINQSQCTEVLNETLCPTWDQMLVFDNLELYG
EAHELRDDPPIIVIEIYDQDSMGKADFMGRTFAKPLVKMADEAYCPPRFPPQLEYYQIYR
GNATAGDLLAAFELLQIGPAGKADLPPINGPVDVDRGPIMPVPMGIRPVLSKYRVEVLFW
GLRDLKRVNLAQVDRPRVDIECAGKGVQSSLIHNYKKNPNFNTLVKWFEVDLPENELLHP
PLNIRVVDCRAFGRYTLVGSHAVSSLRRFIYRPPDRSAPSWNTTVRLLRRCRVLCNGGSS
SHSTGEVVVTMEPEVPIKKLETMVKLDATSEAVVKVDVAEEEKEKKKKKKGTAEEPEEEE
PDESMLDWWSKYFASIDTMKEQLRQQEPSGIDLEEKEEVDNTEGLKGSMKGKEKARAAKE
EKKKKTQSSGSGQGSEAPEKKKPKIDELKVYPKELESEFDNFEDWLHTFNLLRGKTGDDE
DGSTEEERIVGRFKGSLCVYKVPLPEDVSREAGYDSTYGMFQGIPSNDPINVLVRVYVVR
ATDLHPADINGKADPYIAIRLGKTDIRDKENYISKQLNPVFGKSFDIEASFPMESMLTVA
VYDWDLVGTDDLIGETKIDLENRFYSKHRATCGIAQTYSTHGYNIWRDPMKPSQILTRLC
KDGKVDGPHFGPPGRVKVANRVFTGPSEIEDENGQRKPTDEHVALLALRHWEDIPRAGCR
LVPEHVETRPLLNPDKPGIEQGRLELWVDMFPMDMPAPGTPLDISPRKPKKYELRVIIWN
TDEVVLEDDDFFTGEKSSDIFVRGWLKGQQEDKQDTDVHYHSLTGEGNFNWRYLFPFDYL
AAEEKIVISKKESMFSWDETEYKIPARLTLQIWDADHFSADDFLGAIELDLNRFPRGAKT
AKQCTMEMATGEVDVPLVSIFKQKRVKGWWPLLARNENDEFELTGKVEAELHLLTAEEAE
KNPVGLARNEPDPLEKPNRPDTSFIWFLNPLKSARYFLWHTYRWLLLKLLLLLLLLLLLA
LFLYSVPGYLVKKILGA

Sequence length

1997

Interactions

View interactions

	Reactome
			Insertion of tail-anchored proteins into the endoplasmic reticulum membrane

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Auditory neuropathy	Likely pathogenic; Pathogenic	rs2148050495, rs2148051770, rs2148021052, rs2465272346, rs2465498743, rs1320406513, rs2465473118, rs1665126718, rs2465585150, rs2465540556, rs1665364799, rs1207567940, rs779969253, rs898393464, rs762660468 View all (7 more)	RCV003483834 RCV003483833 RCV003483835 RCV003484468 RCV003484469 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Auditory neuropathy spectrum disorder	Pathogenic; Likely pathogenic	rs2465584922, rs564169177, rs2465272460, rs2465272620, rs201326023, rs199766465, rs397515605, rs397515608	RCV003984977 RCV003984978 RCV003984980 RCV003984986 RCV003984844 RCV003984816 RCV003984817 RCV003984818 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Auditory neuropathy, autosomal recessive, 1	Likely pathogenic; Pathogenic	rs80356605, rs80356602, rs121908598, rs80356596, rs80356586, rs80356587	RCV000006510 RCV000006514 RCV000006515 RCV000006516 RCV000006517 RCV002293239 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive nonsyndromic hearing loss 9	Pathogenic; Likely pathogenic	rs2148023735, rs529721333, rs2148023761, rs2148047301, rs1240121049, rs2148050495, rs2148051770, rs2148056311, rs2148078546, rs2148046428, rs2148020419, rs2148021052, rs2148023717, rs751564248, rs2148056188 View all (87 more)	RCV001822932 RCV001822931 RCV001822921 RCV001822904 RCV001822903 View all (98 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bilateral sensorineural hearing impairment	Likely pathogenic; Pathogenic	rs1487432642, rs2148024902, rs1005694756, rs2148028248, rs2148046428, rs2148060407, rs80356591, rs781688103, rs111033383, rs111033405, rs1443739332, rs397515589, rs201329629, rs397515596, rs397515598, rs199848801, rs397515609 View all (2 more)	RCV001730842 RCV001730839 RCV001730840 RCV001730841 RCV001730845 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness	Likely pathogenic; Pathogenic	rs1558480402, rs1558490542	RCV000679828 RCV000679829	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation	Likely pathogenic; Pathogenic	rs1464318474, rs2148055230	RCV001814554 RCV001814398	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1	Pathogenic	rs1558486388	RCV005897390	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs1172714485, rs1249447410, rs1057518840, rs147321712	RCV001375269 RCV001375268 RCV000415433 RCV000414855	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs1005694756, rs2148028248, rs200147906, rs879255246, rs80356590, rs1558480402, rs1558490542, rs1558464965, rs1558488902, rs143939430, rs397515605	RCV004719043 RCV004719044 RCV001291228 RCV000239359 RCV001291117 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monogenic hearing loss	Pathogenic	rs199848801	RCV005859486	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic genetic hearing loss	Likely pathogenic; Pathogenic	rs483353050, rs145208539, rs142111099, rs727505359, rs80356600, rs80356593, rs139416718, rs759366568, rs747471303, rs111033342, rs80356590, rs80356591, rs397515435, rs1558490542, rs80356585 View all (7 more)	RCV003230408 RCV003120739 RCV003313044 RCV001731488 RCV005055505 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OTOF-related disorder	Pathogenic; Likely pathogenic	rs80356593, rs80356590, rs80356594, rs201326023, rs80356585, rs111033383, rs111033405, rs397515591	RCV004751204 RCV003894816 RCV004730852 RCV003420162 RCV003430650 RCV003398611 RCV004751243 RCV003905022 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic deafness	Pathogenic; Likely pathogenic	rs727504639, rs370132645, rs727504936, rs727505359, rs111033384, rs727503352, rs200147906, rs397515597, rs80356600, rs80356593, rs80356586, rs80356590, rs80356591, rs111033341, rs111033383 View all (13 more)	RCV000155900 RCV000155257 RCV000156331 RCV000156924 RCV000154421 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Likely pathogenic; Pathogenic	rs758918226	RCV005902150	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tricho-oculo-dermo-vertebral syndrome	Likely pathogenic; Pathogenic	rs1558464965, rs2465523922, rs1477293410, rs1553356452	RCV003155554 RCV003155555 RCV003155556 RCV003155557	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood onset hearing loss	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 3	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 9	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pendred syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENDREDS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (43)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	24746455	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	24814232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory Neuropathy	BEFREE	12324385, 14635104, 18381613, 19461658, 20211493, 20224275, 20230791, 20504331, 22575033, 25900720, 27177047, 27652356, 30482216		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Auditory neuropathy	Auditory neuropathy	Pubtator	15637703, 16371502, 19636622, 24746455, 25900720, 27652356, 30482216, 32555439, 34424407, 34536124, 38456936, 40004445	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Auditory Neuropathy Autosomal Dominant 1	Auditory neuropathy	Pubtator	31827501	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory neuropathy spectrum disorder	Auditory neuropathy	BEFREE	12324385, 14635104, 18381613, 19461658, 20211493, 20224275, 20230791, 20504331, 21935370, 22575033, 24001616, 24053799, 24135434, 25900720, 26632695 View all (9 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22302350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cochlear Diseases	Cochlear diseases	Pubtator	30482216, 33908410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy and perceptive deafness	Corneal dystrophy	Pubtator	33908410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deaf Mutism	Deafness	CTD_human_DG	17967520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	19250381, 19636622, 20822952, 22607986, 24053799, 25900720, 27573290, 27652356, 30139988, 31581539, 31992338, 32048449, 33095980, 33908410, 34325055, 34335733, 35248088 View all (2 more)	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness Autosomal Recessive 59	Deafness	Pubtator	21935370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 9	Deafness	Pubtator	21935370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Acquired	Deafness	CTD_human_DG	17967520		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	12127154, 12469219, 18772196, 27177047		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	CLINVAR_DG	27082237		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT	Deafness	BEFREE	12324385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 9	Deafness	CLINGEN_DG	10192385, 11483641, 12127154, 17055430, 19417007, 24135434		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 9	Deafness	GENOMICS_ENGLAND_DG	10192385, 19417007, 9657592		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 9	Deafness	UNIPROT_DG	10192385, 12127154, 16097006, 16283880, 16371502, 18381613, 26437881		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 9	Deafness	CLINVAR_DG	12114484, 12127154, 14635104, 16371502, 20224275, 20230791, 20504331, 21557232, 21935370, 24746455, 24814232, 27018795, 28766844		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 9	Deafness	BEFREE	12324385, 12469219, 16097006, 19004828, 24814232, 30782832		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 9	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatomyositis	Dermatomyositis	Pubtator	34997119, 37445728	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	34194829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	20822952, 21935370, 24053799, 24135434, 26632695, 30482216, 31095577, 31827501, 33426078, 33908410, 34097718, 34424407, 34536124, 36166228, 36988134, 39684270, 40004445 View all (2 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	15637703, 16371502, 19636622, 19888295, 21935370, 24135434, 27082237, 27573290, 27652356, 29048421, 29293505, 29434063, 31095577, 31250571, 31835641 View all (12 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	20146813, 24135434, 24746455, 31095577, 36837553, 8593615	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	35853923	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	33908410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	10843812, 18381613, 19004828, 22906306, 24053799, 24814232, 27068579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINVAR_DG	27082237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	CTD_human_DG	17967520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prelingual sensorineural hearing impairment	Sensorineural hearing loss	BEFREE	10903124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound hearing impairment	Hearing Impairment	BEFREE	14635104, 27652356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	16097006, 21557232, 31095577, 8593615		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	CLINGEN_DG	10192385, 11483641, 12127154, 17055430, 19417007, 24135434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	36837553, 36988134	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	19186249		★★★★★ ★☆☆☆☆ Found in Text Mining only

OTOF (otoferlin)