Otof (otoferlin) - Rat Genome Database

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Gene: Otof (otoferlin) Rattus norvegicus
Analyze
Symbol: Otof
Name: otoferlin
RGD ID: 620646
Description: Predicted to enable AP-2 adaptor complex binding activity and calcium ion binding activity. Involved in cochlea development. Located in apical part of cell and basal part of cell. Biomarker of hypothyroidism. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 9. Orthologous to human OTOF (otoferlin); PARTICIPATES IN auditory mechanotransduction pathway; INTERACTS WITH 6-propyl-2-thiouracil; ammonium chloride; bisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: fer-1-like protein 2
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8631,647,869 - 31,744,476 (+)NCBIGRCr8
mRatBN7.2625,928,018 - 26,024,631 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl625,928,055 - 26,024,631 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx626,220,691 - 26,317,263 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0626,536,572 - 26,633,146 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0626,015,517 - 26,112,617 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0627,328,343 - 27,424,864 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl627,328,406 - 27,424,864 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0637,140,727 - 37,237,155 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4625,912,607 - 26,008,137 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1626,003,001 - 26,007,276 (+)NCBI
Celera625,406,310 - 25,502,501 (+)NCBICelera
Cytogenetic Map6q14NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Thyroid hormone deficiency affects postnatal spiking activity and expression of Ca2+ and K+ channels in rodent inner hair cells. Brandt N, etal., J Neurosci. 2007 Mar 21;27(12):3174-86.
2. Otoferlin couples to clathrin-mediated endocytosis in mature cochlear inner hair cells. Duncker SV, etal., J Neurosci. 2013 May 29;33(22):9508-19. doi: 10.1523/JNEUROSCI.5689-12.2013.
3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
4. Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form. Heidrych P, etal., Hum Mol Genet. 2008 Dec 1;17(23):3814-21. doi: 10.1093/hmg/ddn279. Epub 2008 Sep 4.
5. A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9. Longo-Guess C, etal., Hear Res. 2007 Dec;234(1-2):21-8. Epub 2007 Sep 29.
6. Screening of OTOF mutations in Iran: a novel mutation and review. Mahdieh N, etal., Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1610-5. doi: 10.1016/j.ijporl.2012.07.030. Epub 2012 Aug 18.
7. Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! Marlin S, etal., Biochem Biophys Res Commun. 2010 Apr 9;394(3):737-42. doi: 10.1016/j.bbrc.2010.03.062. Epub 2010 Mar 16.
8. A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy. Matsunaga T, etal., Clin Genet. 2012 Nov;82(5):425-32. doi: 10.1111/j.1399-0004.2012.01897.x. Epub 2012 Jun 1.
9. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
10. Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. Migliosi V, etal., J Med Genet. 2002 Jul;39(7):502-6.
11. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
14. GOA pipeline RGD automated data pipeline
15. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
17. Comprehensive gene review and curation RGD comprehensive gene curation
18. Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). Rodriguez-Ballesteros M, etal., Hum Mutat. 2003 Dec;22(6):451-6.
19. Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Roux I, etal., Cell. 2006 Oct 20;127(2):277-89.
20. The auditory hair cell ribbon synapse: from assembly to function. Safieddine S, etal., Annu Rev Neurosci. 2012;35:509-28. doi: 10.1146/annurev-neuro-061010-113705.
21. Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat. Schug N, etal., Eur J Neurosci. 2006 Dec;24(12):3372-80.
22. A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy. Tekin M, etal., Am J Med Genet A. 2005 Sep 15;138(1):6-10.
23. OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. Yasunaga S, etal., Am J Hum Genet 2000 Sep;67(3):591-600. Epub 2000 Jul 19.
24. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Yasunaga S, etal., Nat Genet. 1999 Apr;21(4):363-9.
Additional References at PubMed
PMID:15632090   PMID:18287496   PMID:20562868   PMID:21216247   PMID:24478316   PMID:25609709   PMID:25701657   PMID:27458190  


Genomics

Comparative Map Data
Otof
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8631,647,869 - 31,744,476 (+)NCBIGRCr8
mRatBN7.2625,928,018 - 26,024,631 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl625,928,055 - 26,024,631 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx626,220,691 - 26,317,263 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0626,536,572 - 26,633,146 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0626,015,517 - 26,112,617 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0627,328,343 - 27,424,864 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl627,328,406 - 27,424,864 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0637,140,727 - 37,237,155 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4625,912,607 - 26,008,137 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1626,003,001 - 26,007,276 (+)NCBI
Celera625,406,310 - 25,502,501 (+)NCBICelera
Cytogenetic Map6q14NCBI
OTOF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38226,457,203 - 26,558,756 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl226,457,203 - 26,558,756 (-)EnsemblGRCh38hg38GRCh38
GRCh37226,680,071 - 26,781,624 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36226,533,575 - 26,635,070 (-)NCBINCBI36Build 36hg18NCBI36
Build 34226,591,722 - 26,612,561NCBI
Celera226,523,620 - 26,625,188 (-)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef226,419,277 - 26,520,993 (-)NCBIHuRef
CHM1_1226,610,235 - 26,711,604 (-)NCBICHM1_1
T2T-CHM13v2.0226,495,826 - 26,597,899 (-)NCBIT2T-CHM13v2.0
Otof
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39530,524,410 - 30,620,073 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl530,524,406 - 30,619,276 (-)EnsemblGRCm39 Ensembl
GRCm38530,367,066 - 30,462,730 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl530,367,062 - 30,461,932 (-)EnsemblGRCm38mm10GRCm38
MGSCv37530,669,351 - 30,764,305 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36530,646,656 - 30,738,483 (-)NCBIMGSCv36mm8
Celera527,843,111 - 27,940,114 (-)NCBICelera
Cytogenetic Map5B1NCBI
cM Map516.48NCBI
Otof
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554698,481,231 - 8,569,265 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554698,480,099 - 8,569,215 (-)NCBIChiLan1.0ChiLan1.0
OTOF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21299,958,484 - 100,060,125 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A99,962,451 - 100,064,093 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A26,454,010 - 26,555,642 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A26,548,972 - 26,566,606 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A26,546,959 - 26,647,278 (-)Ensemblpanpan1.1panPan2
OTOF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11720,518,480 - 20,619,713 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1720,518,813 - 20,614,750 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1720,413,288 - 20,519,116 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01720,840,616 - 21,054,235 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1720,841,059 - 20,936,337 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11720,527,360 - 20,741,118 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01720,538,522 - 20,752,482 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01720,584,774 - 20,680,568 (-)NCBIUU_Cfam_GSD_1.0
Otof
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629264,839,059 - 64,923,648 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364935,916,113 - 5,999,784 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364935,916,113 - 5,999,867 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OTOF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3112,478,027 - 112,581,104 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13112,478,188 - 112,581,105 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23119,511,861 - 119,546,848 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OTOF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11481,080,077 - 81,187,769 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1481,080,462 - 81,186,697 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604530,964,395 - 31,067,698 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Otof
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247388,599,544 - 8,690,412 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247388,599,815 - 8,690,382 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Otof
690 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:63
Count of miRNA genes:57
Interacting mature miRNAs:63
Transcripts:ENSRNOT00000044278
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
738023Alc17Alcohol consumption QTL 173.10.003consumption behavior trait (VT:0002069)ethanol drink intake rate to body weight ratio (CMO:0001616)6127574569Rat
1354616Despr12Despair related QTL 120.0012locomotor behavior trait (VT:0001392)amount of experiment time spent in a discrete space in an experimental apparatus (CMO:0000958)6127574569Rat
1549905Stresp10Stress response QTL 106.830.0066stress-related behavior trait (VT:0010451)number of approaches toward negative stimulus before onset of defensive burying response (CMO:0001960)6127574569Rat
2300176Bmd51Bone mineral density QTL 5111.70.0001femur mineral mass (VT:0010011)bone mineral density (CMO:0001226)6127574569Rat
2300190Bmd52Bone mineral density QTL 5211.20.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)6127574569Rat
1331743Uae28Urinary albumin excretion QTL 284.5urine albumin amount (VT:0002871)urine albumin level (CMO:0000130)6134235784Rat
1578758Tcas9Tongue tumor susceptibility QTL 93.29tongue integrity trait (VT:0010553)number of squamous cell tumors of the tongue with diameter greater than 3 mm (CMO:0001950)6137618905Rat
1598843Cm63Cardiac mass QTL 632.6heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)6139036266Rat
7411603Foco13Food consumption QTL 135.50.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)6141223769Rat
8552962Pigfal16Plasma insulin-like growth factor 1 level QTL 169.4blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)6141223769Rat
7411542Bw127Body weight QTL 1275.50.001body mass (VT:0001259)body weight gain (CMO:0000420)6141223769Rat
9589129Insul24Insulin level QTL 2419.060.001blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)6141223769Rat
9589048Scfw3Subcutaneous fat weight QTL 34.570.001subcutaneous adipose mass (VT:1000472)abdominal subcutaneous fat pad weight (CMO:0002069)6141223769Rat
2293709Bss23Bone structure and strength QTL 235.180.0001femur morphology trait (VT:0000559)femur cross-sectional area (CMO:0001661)6142487980Rat
2293650Bss31Bone structure and strength QTL 315.050.0001femur strength trait (VT:0010010)femur midshaft polar moment of inertia (CMO:0001669)6142487980Rat
2293656Bss28Bone structure and strength QTL 286.790.0001femur morphology trait (VT:0000559)femur midshaft cortical cross-sectional area (CMO:0001663)6142487980Rat
7411584Foco4Food consumption QTL 44.30.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)6142838846Rat
738024Sach5Saccharine consumption QTL 53.90.00039consumption behavior trait (VT:0002069)saccharin intake volume to total fluid intake volume ratio (CMO:0001601)6143394190Rat
2301972Bp325Blood pressure QTL 3254.8arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)6172227641Rat
1300128Rf16Renal function QTL 163.89renal blood flow trait (VT:2000006)absolute change in renal blood flow rate (CMO:0001168)6507449734434305Rat
1300164Rf15Renal function QTL 153.12renal blood flow trait (VT:2000006)absolute change in renal blood flow rate (CMO:0001168)6507449754641141Rat
4145119Mcs25Mammary carcinoma susceptibility QTL 250.0001mammary gland integrity trait (VT:0010552)ratio of deaths to total study population during a period of time (CMO:0001023)610894415110548006Rat
1578665Bss16Bone structure and strength QTL 164.4femur morphology trait (VT:0000559)bone trabecular cross-sectional area (CMO:0002311)61173566972593685Rat
1578668Bmd14Bone mineral density QTL 143.8femur mineral mass (VT:0010011)total volumetric bone mineral density (CMO:0001728)61173566972593685Rat
10401812Kidm54Kidney mass QTL 54kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)61436878859368788Rat
10401800Kidm49Kidney mass QTL 49kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)61436878859368788Rat
1576309Emca7Estrogen-induced mammary cancer QTL 74mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)615107216107351382Rat
1359023Bp272Blood pressure QTL 2722.5arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)61653614027261739Rat
2292589Emca10Estrogen-induced mammary cancer QTL 100.048mammary gland integrity trait (VT:0010552)post-insult time to mammary tumor formation (CMO:0000345)61653614061536140Rat
1354664Slep2Serum leptin concentration QTL 24.49blood leptin amount (VT:0005667)serum leptin level (CMO:0000780)61653614071636405Rat
1641898Colcr4Colorectal carcinoma resistance QTL43.710.0007intestine integrity trait (VT:0010554)well differentiated malignant colorectal tumor surface area measurement (CMO:0002077)62033877762613667Rat
2293839Kiddil2Kidney dilation QTL 24.8kidney pelvis morphology trait (VT:0004194)hydronephrosis severity score (CMO:0001208)62086642281133036Rat
2293841Kiddil4Kidney dilation QTL 44.4kidney pelvis morphology trait (VT:0004194)hydronephrosis severity score (CMO:0001208)62086642281133036Rat

Markers in Region
D6Got19  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2625,988,506 - 25,988,661 (+)MAPPERmRatBN7.2
Rnor_6.0627,388,742 - 27,388,896NCBIRnor6.0
Rnor_5.0637,201,033 - 37,201,187UniSTSRnor5.0
RGSC_v3.4625,972,823 - 25,972,978RGDRGSC3.4
RGSC_v3.4625,972,824 - 25,972,978UniSTSRGSC3.4
RGSC_v3.1625,975,777 - 25,975,931RGD
Celera625,466,376 - 25,466,530UniSTS
RH 3.4 Map694.9UniSTS
RH 3.4 Map694.9RGD
RH 2.0 Map6226.2RGD
Cytogenetic Map6q14UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system reproductive system respiratory system appendage
High
Medium 7
Low 2 51 6
Below cutoff 2 4 6 1 3 1 4 4 6 24 11 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001276720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006239833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_008764534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_008764535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017594387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017594388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039113005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039113006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063262559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF315944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH473947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAXUCZ010000006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENSRNOT00000044278   ⟹   ENSRNOP00000046997
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl625,928,055 - 26,023,822 (+)Ensembl
Rnor_6.0 Ensembl627,328,515 - 27,424,052 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000091159   ⟹   ENSRNOP00000074490
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl625,928,055 - 26,024,631 (+)Ensembl
Rnor_6.0 Ensembl627,328,406 - 27,424,864 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000105491   ⟹   ENSRNOP00000078196
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl625,928,055 - 26,024,631 (+)Ensembl
RefSeq Acc Id: NM_001276720   ⟹   NP_001263649
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8631,647,914 - 31,744,476 (+)NCBI
mRatBN7.2625,928,055 - 26,024,631 (+)NCBI
Rnor_6.0627,328,406 - 27,424,864 (+)NCBI
Rnor_5.0637,140,727 - 37,237,155 (+)NCBI
Celera625,406,310 - 25,502,501 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006239833   ⟹   XP_006239895
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8631,647,890 - 31,744,464 (+)NCBI
mRatBN7.2625,928,020 - 26,024,631 (+)NCBI
Rnor_6.0627,328,343 - 27,424,864 (+)NCBI
Rnor_5.0637,140,727 - 37,237,155 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017594387   ⟹   XP_017449876
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8631,647,891 - 31,744,464 (+)NCBI
mRatBN7.2625,928,020 - 26,024,631 (+)NCBI
Rnor_6.0627,328,343 - 27,424,864 (+)NCBI
Sequence:
RefSeq Acc Id: XM_039113005   ⟹   XP_038968933
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8631,647,890 - 31,743,624 (+)NCBI
mRatBN7.2625,928,020 - 26,024,631 (+)NCBI
RefSeq Acc Id: XM_039113006   ⟹   XP_038968934
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8631,647,890 - 31,743,623 (+)NCBI
mRatBN7.2625,928,020 - 26,024,631 (+)NCBI
RefSeq Acc Id: XM_063262552   ⟹   XP_063118622
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8631,647,890 - 31,744,464 (+)NCBI
RefSeq Acc Id: XM_063262553   ⟹   XP_063118623
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8631,647,869 - 31,741,745 (+)NCBI
RefSeq Acc Id: XM_063262555   ⟹   XP_063118625
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8631,647,890 - 31,741,745 (+)NCBI
RefSeq Acc Id: XM_063262556   ⟹   XP_063118626
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8631,647,891 - 31,744,464 (+)NCBI
RefSeq Acc Id: XM_063262557   ⟹   XP_063118627
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8631,647,890 - 31,741,745 (+)NCBI
RefSeq Acc Id: XM_063262558   ⟹   XP_063118628
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8631,647,891 - 31,741,745 (+)NCBI
RefSeq Acc Id: XM_063262559   ⟹   XP_063118629
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8631,718,022 - 31,741,745 (+)NCBI
RefSeq Acc Id: NP_001263649   ⟸   NM_001276720
- UniProtKB: A0A0G2K867 (UniProtKB/TrEMBL),   A6HAD6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006239895   ⟸   XM_006239833
- Peptide Label: isoform X5
- UniProtKB: Q9ERC5 (UniProtKB/Swiss-Prot),   A6HAD6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_017449876   ⟸   XM_017594387
- Peptide Label: isoform X8
- UniProtKB: A6HAD6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000074490   ⟸   ENSRNOT00000091159
RefSeq Acc Id: ENSRNOP00000046997   ⟸   ENSRNOT00000044278
RefSeq Acc Id: XP_038968933   ⟸   XM_039113005
- Peptide Label: isoform X2
- UniProtKB: A6HAD6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038968934   ⟸   XM_039113006
- Peptide Label: isoform X2
- UniProtKB: A6HAD6 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSRNOP00000078196   ⟸   ENSRNOT00000105491
RefSeq Acc Id: XP_063118623   ⟸   XM_063262553
- Peptide Label: isoform X2
- UniProtKB: A6HAD6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063118622   ⟸   XM_063262552
- Peptide Label: isoform X1
- UniProtKB: A6HAD6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063118627   ⟸   XM_063262557
- Peptide Label: isoform X6
- UniProtKB: A6HAD6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063118625   ⟸   XM_063262555
- Peptide Label: isoform X3
- UniProtKB: A6HAD6 (UniProtKB/TrEMBL),   A0A0G2K867 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063118626   ⟸   XM_063262556
- Peptide Label: isoform X4
- UniProtKB: A6HAD6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063118628   ⟸   XM_063262558
- Peptide Label: isoform X7
- UniProtKB: A6HAD6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063118629   ⟸   XM_063262559
- Peptide Label: isoform X9
Protein Domains
C2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9ERC5-F1-model_v2 AlphaFold Q9ERC5 1-1993 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:620646 AgrOrtholog
BioCyc Gene G2FUF-38309 BioCyc
Ensembl Genes ENSRNOG00000009967 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSRNOG00055019015 UniProtKB/Swiss-Prot
  ENSRNOG00060011790 UniProtKB/Swiss-Prot
  ENSRNOG00065024204 UniProtKB/Swiss-Prot
Ensembl Transcript ENSRNOT00000044278.5 UniProtKB/Swiss-Prot
  ENSRNOT00000091159 ENTREZGENE
  ENSRNOT00000091159.2 UniProtKB/TrEMBL
  ENSRNOT00000105491.1 UniProtKB/TrEMBL
  ENSRNOT00055032427 UniProtKB/Swiss-Prot
  ENSRNOT00060019948 UniProtKB/Swiss-Prot
  ENSRNOT00065041518 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2A_Ferlin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2B_Ferlin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2C_Ferlin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2D_Ferlin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2E_Ferlin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2F_Ferlin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FerIin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferlin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferlin_B-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferlin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:84573 UniProtKB/TrEMBL
NCBI Gene 84573 ENTREZGENE
PANTHER PTHR12546 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12546:SF32 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FerB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FerI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferlin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Otof PhenoGen
PRINTS C2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx ENSRNOG00000009967 RatGTEx
  ENSRNOG00055019015 RatGTEx
  ENSRNOG00060011790 RatGTEx
  ENSRNOG00065024204 RatGTEx
SMART FerB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FerI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49562 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2K867 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5Y9Z3_RAT UniProtKB/TrEMBL
  A6HAD6 ENTREZGENE, UniProtKB/TrEMBL
  OTOF_RAT UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2004-09-10 Otof  otoferlin      Symbol and Name status set to approved 1299863 APPROVED
2002-08-07 Otof  otoferlin      Symbol and Name status set to provisional 70820 PROVISIONAL