1. Gene
  2. CCDC90B - coiled-coil domain containing 90B Gene

CCDC90B - coiled-coil domain containing 90B Gene

Homo sapiens

Also known as MDS011; MDS025

Gene ID: 60492 | Gene type: protein coding

About CCDC90B

This gene has 19 transcripts (splice variants), 205 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 14.9), adrenal (RPKM 10.5) and 25 other tissues.

Summary

Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

CCDC90B Products(6)

mRNA Protein Name
NM_001286116.2 NP_001273045.2 coiled-coil domain-containing protein 90B, mitochondrial isoform c
NM_001286117.3 NP_001273046.1 coiled-coil domain-containing protein 90B, mitochondrial isoform c
NM_001286118.3 NP_001273047.1 coiled-coil domain-containing protein 90B, mitochondrial isoform d
NM_001286119.3 NP_001273048.1 coiled-coil domain-containing protein 90B, mitochondrial isoform d
NM_001286120.3 NP_001273049.1 coiled-coil domain-containing protein 90B, mitochondrial isoform e
NM_021825.5 NP_068597.2 coiled-coil domain-containing protein 90B, mitochondrial isoform 1 precursor

CCDC90B Protein Structure

DUF1640

DUF1640: Protein of unknown function (DUF1640) (60 - 254)

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

coiled-coil domain-containing protein 90B, mitochondrial

Related Diseases

Diseases Alias
Oculoauricular Syndrome

OCACS

Schorderet-Munier-Franceschetti Syndrome

Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, And Anomalies Of The External Ear

Oculoauricular Syndrome, Schorderet Type

Oculo-Auricular Syndrome

Osteochondrosis

Osteochondritis

Apophysitis

Epiphysitis

Osteochondritis Juvenilis

Epiphyseal Necrosis

Juvenile Osteochondrosis Of Tibial Tubercle

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]

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

Orthologs Information

Species Symbol Source ID
Bos taurus CCDC90B VGNC VGNC:26931
Mus musculus CCDC90B MGD MGI:1913615
Rattus norvegicus CCDC90B RGD RGD:1308637
Canis familiaris CCDC90B VGNC VGNC:38871
Macaca mulatta CCDC90B VGNC VGNC:70886
Felis catus CCDC90B VGNC VGNC:60527