OTOGL (otogelin like)

Gene

• Entrez ID: 283310
• Gene name: Otogelin like
• Gene symbol: OTOGL
• Synonyms (NCBI Gene): C12orf64, DFNB84B
• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 614925
• HGNC: 26901
• e!Ensembl: ENSG00000165899

Protein

• UniProt ID: 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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive nonsyndromic hearing loss 84B	Likely pathogenic; Pathogenic	rs2137876491, rs572666403, rs374272301, rs2138034575, rs2137943672, rs1277996676, rs1343148883, rs754134498, rs876657658, rs766753922, rs759174628, rs1888382829, rs537664532, rs370730786, rs2541018989, rs777911261, rs768620276, rs1233562246, rs397514588, rs902734999, rs1477766714, rs371465450, rs764178233, rs952235302, rs763898293, rs1592613721, rs376104832	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic	rs1565920060	RCV004577919	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meniere disease	Likely pathogenic; Pathogenic	rs766753922	RCV004567497	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Pathogenic	rs754300929	RCV006252576	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic genetic hearing loss	Likely pathogenic	rs1398515998	RCV004018283	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OTOGL-related disorder	Likely pathogenic; Pathogenic	rs370730786, rs758437499, rs2541196393, rs1476896214, rs397514588	RCV003401277 RCV003399761 RCV003416990 RCV003896633 RCV003894841	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM ORIGIN VERTIGO	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 84B	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OCULAR HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL VERTIGO	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESTIBULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASCAT_DG	29885931		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	BEFREE	24378291		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	24378291	Associate	★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Dominant 13	Deafness	BEFREE	24378291		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 84B	Deafness	GENOMICS_ENGLAND_DG	23122586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 84B	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 84B	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	34360009, 40004452	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Conductive	Conductive hearing loss	Pubtator	24378291	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	25719458	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	29885931		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	23122586, 23850727, 25719458, 25829320, 28426234		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	23850727		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	23122586, 25829320, 28426234		★☆☆☆☆ Found in Text Mining only
Vestibular Diseases	Vestibular disease	Pubtator	40004452	Associate	★☆☆☆☆ Found in Text Mining only