OTOGL Gene
protein-coding GIFtS: 39
GCID: GC12P080603
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otogelin-like(Previous name: chromosome 12 open reading frame 64 )
(Previous symbol: C12orf64)
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Aliases
for OTOGL gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Otogelin-Like1 | | C12orf641 2 3 | | FLJ905791 | | Chromosome 12 Open Reading Frame 641 | | DFNB84B2 | | Otogelin-Like Protein2 |
Export aliases for OTOGL gene to outside databases |
Summaries
for OTOGL gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for OTOGL:
The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrateswith the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafishsuggest that this gene is essential for normal inner ear function. Mutations in this gene are associated withautosomal recessive deafness. (provided by RefSeq, Dec 2012)
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Genomic Views
for OTOGL gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_029419.12
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for OTOGL
Other transcription factors
Search SABiosciences Chromatin IP Primers for OTOGL
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OTOGL |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q21.31 Ensembl cytogenetic band: 12q21.31 HGNC cytogenetic band: 12q21.31OTOGL Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P080603: view genomic region
(about GC identifiers)
Start:
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80,603,233 bp from pter |
End:
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80,772,870 bp from pter |
Size:
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169,638 bases |
Orientation:
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plus strand |
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Proteins
for OTOGL gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: OTOGL_HUMAN, Q3ZCN5 (See
protein sequence)Recommended Name: Otogelin-like protein precursor Size: 2332 amino acids; 262091 Da
Subcellular location: Secreted (Potential)
Sequence caution: Sequence=BAC04877.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=BAC11376.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: F8W0C3 Q495U8 Q8N8G5 Q8NC28Explore the universe of human proteins at neXtProt for OTOGL: NX_Q3ZCN5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q3ZCN5
OTOGL Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_775862.3
ENSEMBL proteins: ENSP00000447211 ENSP00000298820 ENSP00000449094 ENSP00000449296 ENSP00000449641 ENSP00000400895
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0005576 | extracellular region |
IEA | -- |
OTOGL for ontologies About GeneDecksing
OTOGL Antibody Products:
Assay Products for OTOGL: |
Protein
Domains /
Families
for OTOGL gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
OTOGL for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q3ZCN5ProtoNet protein and cluster: Q3ZCN5 1 Blocks protein family: IPB006207 Cystine knot
UniProtKB/Swiss-Prot: OTOGL_HUMAN, Q3ZCN5Similarity: Belongs to the otogelin familySimilarity: Contains 1 CTCK (C-terminal cystine knot-like) domainSimilarity: Contains 2 TIL (trypsin inhibitory-like) domainsSimilarity: Contains 4 VWFD domains |
Function
for OTOGL gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTOGL |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0046556 | alpha-N-arabinofuranosidase activity |
IEA | -- |
OTOGL for ontologies About GeneDecksing
|
Pathways & Interactions
for OTOGL gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OTOGL
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0046373 | L-arabinose metabolic process |
IEA | -- |
OTOGL for ontologies About GeneDecksing
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Drugs & Compounds
for OTOGL gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for OTOGL
Search CenterWatch for drugs/clinical trials and news about OTOGL 
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Transcripts
for OTOGL gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
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REFSEQ mRNAs for OTOGL gene: NM_173591.3 Unigene Cluster for OTOGL: Otogelin-like Hs.723594 [show with all ESTs]Unigene Representative Sequence: NM_1735916 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000547103 ENST00000298820 ENST00000546620(uc021rba.1 uc009zsg.2)
ENST00000551340 ENST00000550182 ENST00000458043(uc001szd.3)
Additional cDNA sequence: AK075060.1 AK096852.1 BC101016.2 BC101017.2 BC101018.1 6 DOTS entries: DT.100017853 DT.121174692 DT.121169785 DT.121138253 DT.121182053 DT.97822690 14 AceView cDNA sequences: BX107089 AI521692 BF195945 CA952597 BE874953 AK075060 NM_173591 AK096852 BM793455 AI984824 BI495850 CA952802 BI495851 BM829684
GeneLoc Exon Structure
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Expression
for OTOGL gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| OTOGL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See OTOGL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for OTOGL
SOURCE GeneReport for Unigene cluster: Hs.723594
UniProtKB/Swiss-Prot: OTOGL_HUMAN, Q3ZCN5Tissue 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 inbrain, kidney, heart and retina. Relatively low levels in lung, spleen and duodenum. Not detected in adult skeletalmuscle, liver, nor testis
SABiosciences Custom PCR Arrays for OTOGL
Primer
Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OTOGL
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat OTOGL | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OTOGL | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OTOGL | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTOGL |
Orthologs
for OTOGL gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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This gene was present in the common ancestor of chordates.
Orthologs for OTOGL gene from 3/13 species (see all 13) About this table
ENSEMBL Gene Tree for OTOGL (if available)
TreeFam Gene Tree for OTOGL (if available) |
Paralogs
for OTOGL gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for OTOGL gene
- MUC5AC2 TECTA2 OTOG2 MUC22 MUC62 MUC5B2 MUC192 FCGBP2
- VWF2 BMPER2
1 SIMAP similar gene for OTOGL using alignment to 6 protein entries: OTOGL_HUMAN (see all proteins):OTOG
OTOGL for paralogs About GeneDecksing
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Genomic Variants
for OTOGL gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
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| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for OTOGL (80603233 - 80772870 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for OTOGL: --
Human Gene Mutation Database (HGMD): OTOGL
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OTOGL |
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Disorders
/ Diseases
for OTOGL gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
 OTOGL for disorders About MalaCards
OTOGL for disorders About GeneDecksing
OMIM gene information: 614925
OMIM disorders: --
UniProtKB/Swiss-Prot: OTOGL_HUMAN, Q3ZCN5
Defects in OTOGL are the cause of Deafness, autosomal recessive, 84B (DFNB84B) [MIM:614944]. A form ofnon-syndromic deafness characterized by congenital, non-progressive, sensorineural, symmetric hearing loss. Vestibularhypofunction is rarely observed
Export disorders for OTOGL gene to outside databases
|
Publications
for OTOGL gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for OTOGL gene integrated from 9 sources:
(articles sorted by number of sources associating them with OTOGL) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. (PubMed id 23122586)1, 2 Yariz K.O.... Tekin M. (2012)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
- The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
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External Searches for OTOGL gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing OTOGL gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing OTOGL gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing OTOGL gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for OTOGL | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for OTOGL gene:
Search GeneIP for patents involving OTOGL
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for OTOGL gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for OTOGL | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OTOGL | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OTOGL | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for OTOGL | | Browse 3'-UTR reporter clones for miRNA target validation | | | Browse OriGene untagged cDNA clones in CMV expression vector | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OTOGL | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for OTOGL | | OriGene Custom Protein Services for OTOGL | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat OTOGL | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OTOGL | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OTOGL | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OTOGL | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OTOGL | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OTOGL |
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 |  |  |  | |
| | | | Search Tocris compounds for OTOGL |
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 | | | OTOGL Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTOGL |
|  |  |  | | | | Search ThermoFisher Antibodies for OTOGL |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat OTOGL |
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