2. Gene
  3. CCDC50 - coiled-coil domain containing 50 Gene

CCDC50 - coiled-coil domain containing 50 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as YMER; C3orf6; DFNA44

Gene ID: 152137 | Gene type: protein coding

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

CCDC50 Protein Structure

CCDC50_N

CCDC50_N: Coiled-coil domain-containing protein 50 N-terminus (1 - 130)

  • 0
  • 100
  • 200
  • 306 a.a.
Protein Preferred Names Protein Names

coiled-coil domain-containing protein 50

protein Ymer

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02048 CCDC50 Human Pre-designed siRNA Set A / 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