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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	340990
Gene name Gene Name - the full gene name approved by the HGNC.	Otogelin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	OTOG
Synonyms (NCBI Gene) Gene synonyms aliases	DFNB18B, MLEMP, OTGN
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p15.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

Protein

UniProt ID

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

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Deafness	Autosomal recessive nonsyndromic hearing loss 18B	rs866476223, rs1029389440, rs1565129771, rs397514607, rs751369871, rs397514608, rs530874854, rs876657656, rs554847663, rs574007567, rs772430523, rs1157646266	N/A
deafness	Deafness	rs1565127413	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs1565127413	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
hearing impairment	Hearing impairment	N/A	N/A	ClinVar
Meniere Disease	meniere disease	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)