Tissue expression of OTOF - Summary - The Human Protein Atlas

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OTOF

TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	OTOF
Gene description	Otoferlin
Protein class	Disease related genes Plasma proteins Predicted intracellular proteins Predicted membrane proteins
Predicted localization	Intracellular,Membrane
Number of transcripts	6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enhanced (bone marrow)
GTEx:	Tissue enriched (caudate)
FANTOM5:	Tissue enriched (caudate)

Protein evidence

Evidence at protein level

Protein expression

Estimation of protein expression could not be performed. View primary data.

DATA RELIABILITY
Data reliability description	RNA-based expert annotation gave inconclusive results. External data suggests expression in basal ganglia.
Reliability score	Uncertain based on 2 antibodies. HPA007502 , HPA012410
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

N/A

Caudate

N/A

N/A

Cerebellum

N/A

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

N/A

Bronchus

N/A

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

N/A

Skin

N/A

Skin

N/A

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (bone marrow)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (caudate)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (caudate)

GENE INFORMATION
Gene name	OTOF (HGNC Symbol)
Synonyms	DFNB6, DFNB9, FER1L2
Description	Otoferlin (HGNC Symbol)
Entrez gene summary	Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Chromosome	2
Cytoband	p23.3
Chromosome location (bp)	26457203 - 26558698
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000115155 (version 83.38)
Entrez gene	9381
UniProt	Q9HC10 (UniProt - Evidence at protein level)
neXtProt	NX_Q9HC10
Antibodypedia	OTOF antibodies

PROTEIN BROWSER

OTOF-001	OTOF-002	OTOF-003	OTOF-004	OTOF-005	OTOF-007

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
OTOF-001 ENSP00000272371 ENST00000272371	Q9HC10 [Direct mapping] Otoferlin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0003674 [molecular_function] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005783 [endoplasmic reticulum] GO:0005789 [endoplasmic reticulum membrane] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0007605 [sensory perception of sound] GO:0016021 [integral component of membrane] GO:0016079 [synaptic vesicle exocytosis] GO:0016323 [basolateral plasma membrane] GO:0030054 [cell junction] GO:0030672 [synaptic vesicle membrane] GO:0032403 [protein complex binding] GO:0035612 [AP-2 adaptor complex binding] GO:0045177 [apical part of cell] GO:0045178 [basal part of cell] GO:0061025 [membrane fusion] GO:0090102 [cochlea development] Show all	1997 aa 226.8 kDa	No	1
OTOF-002 ENSP00000345137 ENST00000338581	Q9HC10 [Direct mapping] Otoferlin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0003674 [molecular_function] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005789 [endoplasmic reticulum membrane] GO:0005829 [cytosol] GO:0007605 [sensory perception of sound] GO:0016021 [integral component of membrane] GO:0016079 [synaptic vesicle exocytosis] GO:0016323 [basolateral plasma membrane] GO:0030054 [cell junction] GO:0030672 [synaptic vesicle membrane] GO:0061025 [membrane fusion] Show all	1230 aa 140.5 kDa	No	1
OTOF-003 ENSP00000344521 ENST00000339598	Q9HC10 [Direct mapping] Otoferlin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0003674 [molecular_function] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005789 [endoplasmic reticulum membrane] GO:0005829 [cytosol] GO:0007605 [sensory perception of sound] GO:0016021 [integral component of membrane] GO:0016079 [synaptic vesicle exocytosis] GO:0016323 [basolateral plasma membrane] GO:0030054 [cell junction] GO:0030672 [synaptic vesicle membrane] GO:0061025 [membrane fusion] Show all	1230 aa 140.3 kDa	No	1
OTOF-004 ENSP00000383906 ENST00000402415	Q9HC10 [Direct mapping] Otoferlin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0003674 [molecular_function] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005789 [endoplasmic reticulum membrane] GO:0005829 [cytosol] GO:0007605 [sensory perception of sound] GO:0016021 [integral component of membrane] GO:0016079 [synaptic vesicle exocytosis] GO:0016323 [basolateral plasma membrane] GO:0030054 [cell junction] GO:0030672 [synaptic vesicle membrane] GO:0061025 [membrane fusion] Show all	1307 aa 148.9 kDa	No	1
OTOF-005 ENSP00000385255 ENST00000403946	Q9HC10 [Direct mapping] Otoferlin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Disease related genes Show all	GO:0003674 [molecular_function] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005789 [endoplasmic reticulum membrane] GO:0005829 [cytosol] GO:0007605 [sensory perception of sound] GO:0016021 [integral component of membrane] GO:0016079 [synaptic vesicle exocytosis] GO:0016323 [basolateral plasma membrane] GO:0030054 [cell junction] GO:0030672 [synaptic vesicle membrane] GO:0061025 [membrane fusion] Show all	1997 aa 226.5 kDa	No	1
OTOF-007 ENSP00000389917 ENST00000426958	H7BZJ5 [Direct mapping] Otoferlin Show all	Predicted intracellular proteins Show all	GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005623 [cell] GO:0016021 [integral component of membrane] GO:0016079 [synaptic vesicle exocytosis] Show all	141 aa 15.9 kDa	No	0

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The Human Protein Atlas

The Human Protein Atlas project is funded
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