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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	283310
Gene name	Otogelin like
Gene symbol	OTOGL
Synonyms (NCBI Gene)	C12orf64DFNB84B
Chromosome	12
Chromosome location	12q21.31
Summary	The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this

Show/Hide all (17)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018092	hsa-miR-335-5p	Microarray	18185580
MIRT1207243	hsa-miR-1183	CLIP-seq
MIRT1207244	hsa-miR-4268	CLIP-seq
MIRT1207245	hsa-miR-4446-5p	CLIP-seq
MIRT1207246	hsa-miR-4448	CLIP-seq
MIRT1207247	hsa-miR-4686	CLIP-seq
MIRT1207248	hsa-miR-4755-5p	CLIP-seq
MIRT1207249	hsa-miR-580	CLIP-seq
MIRT1207250	hsa-miR-670	CLIP-seq
MIRT2586139	hsa-miR-4738-3p	CLIP-seq
MIRT2586140	hsa-miR-4775	CLIP-seq
MIRT2586141	hsa-miR-548g	CLIP-seq
MIRT2586142	hsa-miR-590-3p	CLIP-seq
MIRT2586139	hsa-miR-4738-3p	CLIP-seq
MIRT2586140	hsa-miR-4775	CLIP-seq
MIRT2586141	hsa-miR-548g	CLIP-seq
MIRT2586142	hsa-miR-590-3p	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	IBA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0046373	Process	L-arabinose metabolic process	IEA
GO:0046556	Function	Alpha-L-arabinofuranosidase activity	IEA
GO:0055127	Process	Vibrational conductance of sound to the inner ear	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA

MIM	HGNC	e!Ensembl
614925	26901	ENSG00000165899

Q3ZCN5

Protein name

Otogelin-like protein

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00094	VWD	114 → 264	von Willebrand factor type D domain	Family
PF08742	C8	311 → 377	C8 domain	Domain
PF00094	VWD	474 → 626	von Willebrand factor type D domain	Family
PF08742	C8	668 → 732	C8 domain	Domain
PF01826	TIL	736 → 791	Trypsin Inhibitor like cysteine rich domain	Domain
PF00094	VWD	939 → 1086	von Willebrand factor type D domain	Family
PF08742	C8	1126 → 1193	C8 domain	Domain
PF05270	AbfB	1231 → 1350	Alpha-L-arabinofuranosidase B (ABFB) domain	Domain
PF00094	VWD	1515 → 1679	von Willebrand factor type D domain	Family
PF08742	C8	1716 → 1781	C8 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in fetal inner ear and heart. Low levels in fetal skeletal muscle, kidney, spleen and colon. Not detected in fetal liver, lung, brain, nor in fetal stomach. In adult tissues, highest levels in brain, kidney, he

Sequence

MIPWSIFLLHVLLFSLQEYICASSILMGTSKNGFNENRQKRALLAAQFEATSPRYFFHDA
INWGESKIKGSCPYECLNGAFCSKTGTCDCQIFQALGTRCQIIPNMGNGRDGICKTWGQY
HFETFDGIYYYFPGNCSYIFAKDCGDLEPRYTVWVHNSPKCLGSVYSCYRSISLFFSNQE
EIRIYGHEIKKNGISLTLPQTIGQIFIEKLADYILVKTTFGFSLAWDGISGIYLKLSEDH
KGKSCGLCGNYNDIQSDDFIILQEDYTEDIAMFANSWSVQTPDDTKCVLTPSDFPNPCSS
GMPAFEAIFFKCQILLQFPFLSCHEYIDPYLYIASCVNDLCKTDDDETYCRAATEYARAC
SHAGYPIQDWRDDFPACTDKCDDSFVHRDCISCCPPTCTFEKQCLGSNLHCLDGCYCPDG
LVMDNGTCISLENCPCGFHGLAYSVGSKIEQECTECVCVGGVWNCTEQDCPVQCSVVGDS
HFTTFDGRHYSFIGMCQYILVKGTGKDKFTITLQKAPCEQNLGLVCLQSITLILEDDFNK
QVTLGRGGQILTSPNQGFNLNGIVEIQTLSSLFILLKTTFGLKILFAIDGERIYIQLTSA
WKRRTLGLCGTFNGNIRDDFLSPSGMIEGTPQLHANAWRVSSTCFAPVHVPVVDPCNINQ
QNIGYAAHCDVIHQELFAPCHIYISPGLYYQLCRHDACKCGSSCLCNALAHYAYLCGQHG
VPIDFRTQISFCAVVCQKGMLYHHCSSFCLHSCISLSSPEQCSDDCAEGCNCPEGKFYED
TLNFCVPIFHCRCHYRGSVYQPGELIPTPSGLCQCSNGTVKCDELATPSAVHICPEGKEY
FDCRFPDPELPAGGVNCETTCANLAMNFTCTPSSPCISGCVCAPGMAEHRGKCYVPESCP
CIWKDWEYLSGEVIATPCYTCVCRRGMFNCTYYPCPAVCTIYGDRHYYSFDGLEYDYISD
CQVFLIKSADDSDISVIAQNKKCFDNDIVCSKSVLISVGDTEIYLNDTPYKQKQSGFFLE
NKSTYQLWKAGYYIVVYFPEKDITILWDRKTTIHIKVGPQWKNKLSGLCGNFDKCTSNDM
TTSNNLEVRNARVFGDSWALGQCESPDETIKPCEAHQNKFPYAKKECSILYSDIFASCRN
VIDVTSFAKNCHEDTCNCNLGGDCECLCTSIAAYAYKCCQEGISIHWRSSTVCSLDCEYY
NEGLGEGPYMLASYGQSGLVLGANMTSRSVFCLPRSSVHTSLFFYFMITPGLFKEKVSSL
ALVSLESAERPNYFLYVHDNDTLSLELWEANSAFHRRATFFHHQGLWIPGYSAFELYSKK
GFFIIFTDSSVKASKYDDSEEFKHSSSFSIEEIQAAVPYRKMCEWRYEPCATPCFKTCSD
PEALACKFLPPVEGCLPYCPKNMILDEVTLKCVYPRDCIPVIPTEPTLMPPAKPTVPITV
FDMLTPTTGLECEPQKFDPVYDCSQYICLNMEWQLYNWSLNCPKDVEMPDCGFRGRPVQV
NSDICCPEWECPCRCSMLSELSIITFDGNNAALYSMASYILVRIPGEIIVAHIEKCSMNQ
NGNSLKKLAPSGRISGLCFKKLNVTTPIHKIIVNRLARKVEVDSIVVPLPFSSQELSIED
SGSMYVITTPAGLIIKWSHLTGIIDIHFGFRFNLSSYTEGLCGICNEDPDDDLRMQNGTI
ITNMEDIGLFIESWEIEKSFEVTMRRPVRNCTEHDCSQCIDLLNRRIFIPCHDKVSPEDF
CEKMWINYTYFWNYECDALSAYVALCNKFDICIQWRTPDYCSLSCPEGKEYQPCVRPCEA
RTCLNQWFYGHTSCLNLREDCVCKVGTILHRPHSAQCIPEKECACTDSEDQPRTAGEIWN
GGIDECTLYKCLENGSIIPIEPDCDEEPTPVCEREAEVVMGIIDKWTCCSKEVCGCDTTL
CETSIPTCTNSQKLIVGHSPLSCCPQYKCECDPLKCPSISTPECREDQFMIQVRQEEPCC
FSPFCVCESCTKPVPLCHDGEFLTVDLNSTHFCCPQYYCVCEPNLCPMPLLNCAEDMNLV
KENVSGQCCPTWHCECNCENLIMPTCEVGEFTAIDHNFQSDCGCIQYLCEKDDVCVFQEV
SVLNPGQSMIKYLEEDFCYAIECLEEKDNHTGFHTLNFTLVNCSKKCDVHQVYTPSPSDY
GCCGTCKNVSCKFHMENGTSVVYAVGSTWHYNCTTYECVKTDEGAIILNYTMVCPPFNET
ECKMNEGIVKLYNEGCCKICKREERICQKVIIKSVIRKQDCMSQSPINVASCDGKCPSAT
IYNINIESHLRFCKCCRENGVRNLSVPLYCSGNGTEIMYTLQEPIDCTCQWN

Sequence length

2332

Interactions

View interactions

208

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 84B	Likely pathogenic; Pathogenic	rs2137876491, rs572666403, rs374272301, rs2138034575, rs2137943672, rs1277996676, rs1343148883, rs754134498, rs876657658, rs766753922, rs759174628, rs1888382829, rs537664532, rs370730786, rs2541018989 View all (12 more)	RCV001822957 RCV002283555 RCV001784783 RCV001784784 RCV001782557 RCV001782558 RCV002052125 RCV002283830 RCV001786342 RCV002500704 RCV005361236 RCV003155568 RCV004796781 RCV001782780 RCV005002188 RCV002481580 RCV002289684 RCV000033000 RCV000033001 RCV000033002 RCV000585676 RCV000844972 RCV003991032 RCV000625469 RCV000786953 RCV005860168 RCV002481812
Hearing loss, autosomal recessive	Likely pathogenic	rs1565920060	RCV004577919
Meniere disease	Likely pathogenic; Pathogenic	rs766753922	RCV004567497
Monogenic hearing loss	Pathogenic	rs754300929	RCV006252576
Nonsyndromic genetic hearing loss	Likely pathogenic	rs1398515998	RCV004018283
OTOGL-related disorder	Likely pathogenic; Pathogenic	rs370730786, rs758437499, rs2541196393, rs1476896214, rs397514588	RCV003401277 RCV003399761 RCV003416990 RCV003896633 RCV003894841
Rare genetic deafness	Likely pathogenic; Pathogenic	rs2137737853, rs756233978, rs876657658, rs766753922, rs759174628, rs1325710910, rs2541054175, rs190997924, rs377708973, rs764178233, rs772723774, rs1191512072, rs368266167, rs1592726662, rs766971906	RCV001449689 RCV001449690 RCV000220106 RCV000219678 RCV000214404 RCV004018202 RCV004018226 RCV004018325 RCV000825570 RCV000609661 RCV000602574 RCV000826124 RCV000826122 RCV000826123 RCV001449691
See cases	Likely pathogenic; Pathogenic	rs377708973	RCV002252175

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs550464057	-
Cervical cancer	Benign; Conflicting classifications of pathogenicity	rs12298611, rs368712763	RCV005924541 RCV005898694
Cholangiocarcinoma	Benign	rs10862089	RCV005894992
Familial cancer of breast	Benign	rs10862089, rs201877625	RCV005894990 RCV005894993
Gastric cancer	Benign	rs12298611, rs79711087, rs12825060	RCV005924542 RCV005894988 RCV005905787
Hearing impairment	Uncertain significance; Conflicting classifications of pathogenicity	rs776891390, rs373638514, rs759133667, rs201232946, rs183159689	RCV001375090 RCV001375220 RCV001375341 RCV001375303 RCV001375411
Sarcoma	Conflicting classifications of pathogenicity	rs144125797	RCV005894989
Uterine carcinosarcoma	Benign	rs12298611, rs10862089, rs11114396	RCV005924543 RCV005894991 RCV005898722
Uterine corpus endometrial carcinoma	Benign	rs12298611	RCV005924544

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Deafness	Associate	24378291
Genetic Diseases Inborn	Associate	34795337
Hearing Loss	Associate	34360009, 40004452
Hearing Loss Conductive	Associate	24378291
Hearing Loss Sensorineural	Associate	25719458
Hemangioblastoma	Associate	28742274
Neoplasms	Associate	27340278
Vestibular Diseases	Associate	40004452

OTOGL (otogelin like)