CCDC134 - coiled-coil domain containing 134 Gene

Homo sapiens

Also known as OI22

Gene ID: 79879 | Gene type: protein coding

About CCDC134

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:41,800,679-41,832,164 (from NCBI)

This gene has 2 transcripts (splice variants), 200 orthologues and is associated with 1 phenotype. Ubiquitous expression in adrenal (RPKM 4.9), bone marrow (RPKM 4.2) and 24 other tissues.

Summary

Predicted to act upstream of or within angiogenesis and animal organ development. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

CCDC134 Products(3)

mRNA	Protein	Name
NM_001304797.2	NP_001291726.1	coiled-coil domain-containing protein 134 isoform 2 precursor
NM_001382346.1	NP_001369275.1	coiled-coil domain-containing protein 134 isoform 1 precursor
NM_024821.5	NP_079097.1	coiled-coil domain-containing protein 134 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22644376	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in regulation of ossification	IMP IMP: Inferred from mutant phenotype	32181939	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

CCDC134 Protein Structure

ERK-JNK_inhib

0
100
200
229 a.a.

Protein Preferred Names

Protein Names

coiled-coil domain-containing protein 134

Recombinant CCDC134 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7762	CCDC134 Protein, Human (HEK293, His)	Q9H6E4 (T23-L229)	≥95%

Related Diseases

Diseases

Alias

Osteogenesis Imperfecta, Type Xxii

OI22	Osteogenesis Imperfecta 22

Osteogenesis Imperfecta, Type Xvii

Osteogenesis Imperfecta Type 17	OI17
Osteogenesis Imperfecta Type Xvii	Osteogenesis Imperfecta 17

Ehlers-Danlos Syndrome, Hypermobility Type

Ehlers-Danlos Syndrome, Type 3	Ehlers-Danlos Syndrome, Type Iii
EDSHMB	Eds Iii
Benign Hypermobility Syndrome	Ehlers-Danlos Syndrome Hypermobility Type
Eds3	Type Iii Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome Type 3	Es-D3

Osteogenesis Imperfecta, Type Vii

Osteogenesis Imperfecta Type 7	Osteogenesis Imperfecta Type Vii
OI7	Oi Type Vii
Oi, Type Vii	Osteogenesis Imperfecta, Type Iib, Formerly
Oi2b, Formerly	Oi Type 7
Osteogenesis Imperfecta 7	Oi2b
Oi-Iib	Oi Type Iib
Oi-Vii	Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive
Osteogenesis Imperfecta Type Ii Autosomal Recessive	Osteogenesis Imperfecta Type Iib

Osteogenesis Imperfecta, Type Iv

Osteogenesis Imperfecta Type 4	Osteogenesis Imperfecta Type Iv
OI4	Oi, Type Iv
Osteogenesis Imperfecta With Normal Sclerae	Oi Type Iv
Oi Type 4	Osteogenesis Imperfecta With Normal Sclera
Common Variable Oi With Normal Sclerae	Osteogenesis Imperfecta 4
Oi-Iv

Osteogenesis Imperfecta, Type Iii

Osteogenesis Imperfecta Type Iii	OI3
Oi, Type Iii	Osteogenesis Imperfecta Type 3
Oi Type Iii	Oi Type 3
Progressive Deforming Osteogenesis Imperfecta	Severe Osteogenesis Imperfecta
Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae	Progressively Deforming Osteogenesis Imperfecta With Normal Sclera
Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae	Progressively Deforming Oi
Osteogenesis Imperfecta 3	Oi-Iii
Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - 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-RS02028	CCDC134 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CCDC134	MGD	MGI:1923707
Bos taurus	CCDC134	VGNC	VGNC:26847
Felis catus	CCDC134	VGNC	VGNC:83516
Macaca mulatta	CCDC134	VGNC	VGNC:70867
Rattus norvegicus	CCDC134	RGD	RGD:1559657
Others	CCDC134	NCBI

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