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CCDC50 - coiled-coil domain containing 50 Gene

Also Known as YMER; C3orf6; DFNA44

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 152137

About CCDC50

Cytogenetic location: 3q28 Genomic coordinates (GRCh38): 3:191,329,394-191,398,659 (from NCBI)

This gene has 3 transcripts (splice variants), 193 orthologues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 19.1), ovary (RPKM 13.4) and 25 other tissues.

Summary

This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

CCDC50 Products (2)

mRNA	Protein	Name
NM_174908.4	NP_777568.1	coiled-coil domain-containing protein 50 short isoform
NM_178335.3	NP_848018.1	coiled-coil domain-containing protein 50 long isoform

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18029035	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	23418353	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within sensory perception of sound	IMP IMP: Inferred from mutant phenotype	17503326	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CCDC50 Protein Structure

CCDC50_N

0
100
200
306 a.a.

Protein Preferred Names	Protein Names
coiled-coil domain-containing protein 50	protein Ymer

CCDC50 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CCDC50	Q8IVM0	ARRDC3	Homo sapiens	Q96B67	Validated Y2H	32296183
Intra	CCDC50	Q8IVM0	RIPK1	Homo sapiens	Q13546	Pull Down	18029035
Intra	CCDC50	Q8IVM0	SH3GL1	Homo sapiens	Q99961	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Deafness, Autosomal Dominant 44	DFNA44 Autosomal Dominant Nonsyndromic Deafness 44 Autosomal Dominant Deafness 44 Deafness, Autosomal Dominant, 44 Deafness, Autosomal Dominant, Type 44
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Deafness, Autosomal Dominant 13	DFNA13 Autosomal Dominant Nonsyndromic Deafness 13 Autosomal Dominant Deafness 13 Deafness, Autosomal Dominant, 13 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 13 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 13 Deafness, Autosomal Dominant, Type 13
Deafness, Autosomal Dominant 10	DFNA10 Autosomal Dominant Nonsyndromic Deafness 10 Autosomal Dominant Deafness 10 Deafness, Autosomal Dominant, 10 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10 Deafness, Autosomal Dominant, Type 10
Deafness, Autosomal Dominant 16	DFNA16 Autosomal Dominant Nonsyndromic Deafness 16 Autosomal Dominant Deafness 16
Deafness, Autosomal Dominant 18	DFNA18 Autosomal Dominant Nonsyndromic Deafness 18 Autosomal Dominant Deafness 18
Deafness, Autosomal Recessive 102	DFNB102 Autosomal Recessive Nonsyndromic Deafness 102 Autosomal Recessive Deafness 102 Deafness, Autosomal Recessive, 102 Deafness, Autosomal Recessive, Type 102
Spastic Paraplegia 14, Autosomal Recessive	SPG14 Hereditary Spastic Paraplegia 14 Autosomal Recessive Spastic Paraplegia Type 14 Autosomal Recessive Spastic Paraplegia 14 Spastic Paraplegia 14
Deafness, Autosomal Dominant 51	Chromosome 9q21.11 Duplication Syndrome DFNA51 Autosomal Dominant Nonsyndromic Deafness 51 Autosomal Dominant Deafness 51 Deafness, Autosomal Dominant, Type 51
Deafness, Autosomal Dominant 2b	DFNA2B Autosomal Dominant Nonsyndromic Deafness 2b Autosomal Dominant Deafness 2b Deafness, Autosomal Dominant, 2b Deafness, Autosomal Dominant, Type 2b
Autosomal Dominant Nonsyndromic Deafness 74	Dfna74
Deafness, Autosomal Dominant 24	DFNA24 Autosomal Dominant Nonsyndromic Deafness 24 Autosomal Dominant Deafness 24
Deafness, Autosomal Dominant 15	DFNA15 Autosomal Dominant Nonsyndromic Deafness 15 Autosomal Dominant Deafness 15 Deafness, Autosomal Dominant, 15 Deafness, Autosomal Dominant, Type 15
Deafness, Autosomal Dominant 50	DFNA50 Autosomal Dominant Nonsyndromic Deafness 50 Autosomal Dominant Deafness 50 Deafness, Autosomal Dominant, Type 50
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Gastritis, Familial Giant Hypertrophic	Menetrier Disease Gastric Mucosal Hypertrophy Giant Hypertrophic Gastritis Hypertrophic Gastropathy Gastritis, Hypertrophic Familial Giant Hypertrophic Gastritis Giant Rugal Hypertrophy Of Stomach Hypertrophic Gastritis Gastroenteropathy, Protein Losing Giant Hypertrophic Gastropathy Giant Hypertrophy Of The Gastric Mucosa Hypoproteinemic Hypertrophic Gastropathy Menetrier'S Disease Giant Hypertrophic Hypersecretory Gastritis
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02048	CCDC50 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CCDC50	MGD	MGI:1914751
Macaca mulatta	CCDC50	VGNC	VGNC:70820
Felis catus	CCDC50	VGNC	VGNC:60503
Bos taurus	CCDC50	VGNC	VGNC:26898
Rattus norvegicus	CCDC50	RGD	RGD:727841
Canis familiaris	CCDC50	VGNC	VGNC:38840
Others	CCDC50	NCBI