Expression of OTOF in cancer - Summary - The Human Protein Atlas

CANCER ATLAS

Gene description

Otoferlin

Protein class

Disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

HPA007502	HPA012410

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