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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27184846	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

CCDC90B Protein Structure

DUF1640

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02065	CCDC90B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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