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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	340990
Gene name	Otogelin
Gene symbol	OTOG
Synonyms (NCBI Gene)	DFNB18BMLEMPOTGN
Chromosome	11
Chromosome location	11p15.1
Summary	The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the an

Show/Hide all (30)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34547529	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs61736002	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs117005078	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142799217	G>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs183470913	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs189947237	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs191662816	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs191722806	A>G	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200998174	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397514607	C>T	Pathogenic	Missense variant, coding sequence variant
rs397514608	C>G,T	Pathogenic, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs554847663	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs560339163	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs574007567	C>G	Pathogenic	Coding sequence variant, stop gained
rs577674003	C>G,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs772430523	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs866476223	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs876657656	->ACTGGACACCCA	Likely-pathogenic	Stop gained, coding sequence variant
rs876657657	G>-	Pathogenic-likely-pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs897822685	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs930688767	C>T	Pathogenic	Stop gained, coding sequence variant
rs934194113	A>G	Likely-pathogenic	Splice acceptor variant
rs1029389440	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1157646266	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1193023501	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1393191930	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1401870617	T>C	Likely-pathogenic	Splice donor variant
rs1407028917	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1565127413	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565129771	G>A	Likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all (20)

miRTarBase ID	miRNA	Experiments	Reference
MIRT667085	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT667084	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT667083	hsa-miR-3140-5p	HITS-CLIP	23824327
MIRT667082	hsa-miR-4680-3p	HITS-CLIP	23824327
MIRT667081	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT667080	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT667079	hsa-miR-1200	HITS-CLIP	23824327
MIRT667078	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT667077	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT667076	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT667085	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT667084	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT667083	hsa-miR-3140-5p	HITS-CLIP	23824327
MIRT667082	hsa-miR-4680-3p	HITS-CLIP	23824327
MIRT667081	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT667080	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT667079	hsa-miR-1200	HITS-CLIP	23824327
MIRT667078	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT667077	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT667076	hsa-miR-7152-5p	HITS-CLIP	23824327

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence
GO:0005201	Function	Extracellular matrix structural constituent	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0046373	Process	L-arabinose metabolic process	IEA
GO:0046556	Function	Alpha-L-arabinofuranosidase activity	IEA

MIM	HGNC	e!Ensembl
604487	8516	ENSG00000188162

Q6ZRI0

Protein name

Otogelin

Protein function

Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization o

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00094	VWD	152 → 302	von Willebrand factor type D domain	Family
PF08742	C8	349 → 416	C8 domain	Domain
PF00094	VWD	514 → 669	von Willebrand factor type D domain	Family
PF08742	C8	712 → 776	C8 domain	Domain
PF01826	TIL	780 → 844	Trypsin Inhibitor like cysteine rich domain	Domain
PF00094	VWD	986 → 1132	von Willebrand factor type D domain	Family
PF08742	C8	1172 → 1239	C8 domain	Domain
PF05270	AbfB	1277 → 1396	Alpha-L-arabinofuranosidase B (ABFB) domain	Domain
PF00094	VWD	2112 → 2266	von Willebrand factor type D domain	Family
PF08742	C8	2305 → 2369	C8 domain	Domain

Sequence

MGVLASALCWLLCVWLPWGEQAAESLRVQRLGERVVDSGRSGARGMRNVKGMRNGPAQTR
VSSSSSHQEATLAMGDKATVVGGQQAEAPDSVAMSSWERRLHRAKCAPSYLFSCFNGGEC
VHPAFCDCRRFNATGPRCQMVYNAGPERDSICRAWGQHHVETFDGLYYYLSGKGSYTLVG
RHEPEGQSFSIQVHNDPQCGSSPYTCSRAVSLFFVGEQEIHLAKEVTHGGMRVQLPHVMG
SARLQQLAGYVIVRHQSAFTLAWDGASAVYIKMSPELLGWTHGLCGNNNADPKDDLVTSS
GKLTDDVVEFVHSWQEQAPNQPPGPTTSSLPRPPCLQQNPGTMQGVYEQCEALLRPPFDA
CHAYVSPLPFTASCTSDLCQSMGDVATWCRALAEYARACAQAGRPLQGWRTQLRQCTVHC
KEKAFTYNECIACCPASCHPRASCVDSEIACVDGCYCPNGLIFEDGGCVAPAECPCEFHG
TLYPPGSVVKEDCNTCTCTSGKWECSTAVCPAECSVTGDIHFTTFDGRRYTFPATCQYIL
AKSRSSGTFTVTLQNAPCGLNQDGACVQSVSVILHQDPRRQVTLTQAGDVLLFDQYKIIP
PYTDDAFEIRRLSSVFLRVRTNVGVRVLYDREGLRLYLQVDQRWVEDTVGLCGTFNGNTQ
DDFLSPVGVPESTPQLFGNSWKTLSACSPLVSGSPLDPCDVHLQAASYSVQACSVLTGEM
FAPCSAFLSPVPYFEQCRRDACRCGQPCLCATLAHYAHLCRRHGLPVDFRARLPACALSC
EASKEYSPCVAPCGRTCQDLASPEACGVDGGDDLSRDECVEGCACPPDTYLDTQADLCVP
RNQCSCHFQGVDYPPGDSDIPSLGHCHCKDGVMSCDSRAPAAACPAGQVFVNCSDLHTDL
ELSRERTCEQQLLNLSVSARGPCLSGCACPQGLLRHGDACFLPEECPCTWKGKEYFPGDQ
VMSPCHTCVCQRGSFQCTLHPCASTCTAYGDRHYRTFDGLPFDFVGACKVHLVKSTSDVS
FSVIVENVNCYSSGMICRKFISINVGNSLIVFDDDSGNPSPESFLDDKQEVHTWRVGFFT
LVHFPQEHITLLWDQRTTVHVQAGPQWQGQLAGLCGNFDLKTINEMRTPENLELTNPQEF
GSSWAAVECPDTLDPRDMCVLNPLREPFAKKECSILLSEVFEICHPVVDVTWFYSNCLTD
TCGCSQGGDCECFCASVSAYAHQCCQHGVAVDWRTPRLCPYDCDFFNKVLGKGPYQLSSL
AAGGALVGMKAVGDDIVLVRTEDVAPADIVSFLLTAALYKAKAHDPDVVSLEAADRPNFF
LHVTANGSLELAKWQGRDTFQQHASFLLHRGTRQAGLVALESLAKPSSFLYVSGAVLALR
LYEHTEVFRRGTLFRLLDAKPSGAAYPICEWRYDACASPCFQTCRDPRAASCRDVPRVEG
CVPVCPTPQVLDEVTQRCVYLEDCVEPAVWVPTEALGNETLPPSQGLPTPSDEEPQLSQE
SPRTPTHRPALTPAAPLTTALNPPVTATEEPVVSPGPTQTTLQQPLELTASQLPAGPTES
PASKGVTASLLAIPHTPESSSLPVALQTPTPGMVSGAMETTRVTVIFAGSPNITVSSRSP
PAPRFPLMTKAVTVRGHGSLPVRTTPPQPSLTASPSSRPVASPGAISRSPTSSGSHKAVL
TPAVTKVISRTGVPQPTQAQSASSPSTPLTVAGTAAEQVPVSPLATRSLEIVLSTEKGEA
GHSQPMGSPASPQPHPLPSAPPRPAQHTTMATRSPALPPETPAAASLSTATDGLAATPFM
SLESTRPSQLLSGLPPDTSLPLAKVGTSAPVATPGPKASVITTPLQPQATTLPAQTLSPV
LPFTPAAMTQAHPPTHIAPPAAGTAPGLLLGATLPTSGVLPVAEGTASMVSVVPRKSTTG
KVAILSKQVSLPTSMYGSAEGGPTELTPATSHPLTPLVAEPEGAQAGTALPVPTSYALSR
VSARTAPQDSMLVLLPQLAEAHGTSAGPHLAAEPVDEATTEPSGRSAPALSIVEGLAEAL
ATTTEANTSTTCVPIAEQDCVRHICLEGQLIRVNQSQHCPQGAAPPRCGILGLAVRVGGD
RCCPLWECACRCSIFPDLSFVTFDGSHVALFKEAIYILSQSPDEMLTVHVLDCKSANLGH
LNWPPFCLVMLNMTHLAHQVTIDRFNRKVTVDLQPVWPPVSRYGFRIEDTGHMYMILTPS
DIQIQWLHSSGLMIVEASKTSKAQGHGLCGICDGDAANDLTLKDGSVVGGAEDPAPFLDS
WQVPSSLTSVGQTRFRPDSCATTDCSPCLRMVSNRTFSACHRFVPPESFCELWIRDTKYV
QQPCVALTVYVAMCHKFHVCIEWRRSDYCPFLCSSDSTYQACVTACEPPKTCQDGILGPL
DPEHCQVLGEGCVCSEGTILHRRHSALCIPEAKCACTDSMGVPRALGETWNSSLSGCCQH
QCQAPDTIVPVDLGCPSPRPESCLRFGEVALLLPTKDPCCLGTVCVCNQTLCEGLAPTCR
PGHRLLTHFQEDSCCPSYSCECDPDLCEAELVPSCRQDQILITGRLGDSCCTSYFCACGD
CPDSIPECQEGEALTVHRNTTELCCPLYQCVCENFRCPQVQCGLGTALVEVWSPDRCCPY
KSCECDCDTIPVPRCHLWEKSQLDEEFMHSVENVCGCAKYECVKAPVCLSRELGVMQPGQ
TVVELSADGVCHTSRCTTVLDPLTNFYQINTTSVLCDIHCEANQEYEHPRDLAACCGSCR
NVSCLFTFPNGTTSLFLPGASWIADCARHHCSSTPLGAVLVRSPISCPPLNETECAKVGG
SVVPSLEGCCRTCKEDGRSCKKVTIRMTIRKNECRSSTPVNLVSCDGRCPSASIYNYNIN
TYARFCKCCREVGLQRRSVQLFCATNATWVPYTVQEPTDCACQWS

Sequence length

2925

Interactions

View interactions

327

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 18B	Likely pathogenic; Pathogenic	rs778222536, rs1853463147, rs2134009776, rs1416960576, rs1478013002, rs2134088808, rs2134090994, rs2497432294, rs1234811014, rs876657656, rs1038769707, rs2497553300, rs982536669, rs1243348441, rs34547529 View all (19 more)	RCV001784774 RCV001784775 RCV001784778 RCV001784780 RCV001784781 RCV001784782 RCV001782555 RCV002472131 RCV004577959 RCV005252819 RCV003155561 RCV003155562 RCV003155563 RCV003155564 RCV003226714 RCV003388743 RCV003881717 RCV003992095 RCV004549022 RCV004595019 RCV000477813 RCV000033038 RCV000033039 RCV000033040 RCV000593230 RCV002476351 RCV001786405 RCV000624828 RCV000761323 RCV001089570 RCV001289558 RCV005359922 RCV001254600 RCV001269339
Deafness	Likely pathogenic; Pathogenic	rs1565127413	RCV000679830
Hearing impairment	Likely pathogenic; Pathogenic	rs1051388148, rs2134007236	RCV001375418 RCV001726713
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs1565127413	RCV001291230
Intellectual disability	Likely pathogenic; Pathogenic	rs554847663	RCV001007897
Nonsyndromic genetic hearing loss	Likely pathogenic	rs2134091591	RCV001449807
OTOG-related disorder	Pathogenic; Likely pathogenic	rs761287044, rs34547529, rs539684481, rs1476485007, rs1225726040, rs1854053830, rs1157646266, rs751369871	RCV004753304 RCV004753667 RCV003402261 RCV003414332 RCV003391541 RCV003896364 RCV003403413 RCV003945802
Rare genetic deafness	Likely pathogenic; Pathogenic	rs778222536, rs1234811014, rs876657657, rs876657656, rs2497368023, rs2497504527, rs1854232508, rs2497608352, rs2478541571, rs2497531947, rs554847663, rs897822685, rs772430523, rs1157646266, rs1193023501 View all (5 more)	RCV004017865 RCV004017948 RCV000218007 RCV000214336 RCV004018165 RCV004018166 RCV004018167 RCV004018201 RCV004018225 RCV004018332 RCV000616086 RCV000600685 RCV000614011 RCV000610410 RCV000608772 RCV000603000 RCV000825539 RCV004017786 RCV001195541 RCV001195626
Seizure	Likely pathogenic; Pathogenic	rs554847663	RCV001007897

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs114425694	RCV005921657
Autosomal recessive disease	Uncertain significance	rs745785866, rs764439865	RCV005626665 RCV005626779
Cervical cancer	Likely benign; Benign	rs7105215, rs114425694	RCV005916191 RCV005921658
Hearing loss	Uncertain significance	rs188832359	RCV000509298
Lung cancer	Benign	rs720460	RCV005922065
Meniere disease	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs552304627, rs61978648, rs61734214, rs7936354, rs117005078, rs145689709, rs117380920, rs61736002, rs76461792, rs117315845, rs61997203, rs2134027384	RCV001254781 RCV001254782 RCV005623314 RCV005623315 RCV001254784 RCV001254785 RCV001254786 RCV001254787 RCV001254788 RCV001254789 RCV001254790 RCV001254783
Ovarian serous cystadenocarcinoma	Benign	rs2023484, rs61880563	RCV005919668 RCV005921886

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Deafness	Associate	24378291, 30139988, 32048449, 35248088
Developmental Dysplasia of the Hip	Associate	36454308
Hearing Loss	Associate	23122587, 34118384
Hearing Loss Conductive	Associate	24378291
Hearing Loss Noise Induced	Associate	30947719
Hearing Loss Sensorineural	Associate	32244554
Meniere Disease	Associate	38519595
Nonsyndromic sensorineural hearing loss	Associate	23122587
Vestibular Diseases	Associate	23122587
Walker Warburg Syndrome	Associate	38519595

OTOG (otogelin)