CCDC134 - coiled-coil domain containing 134 Gene

Also Known as OI22

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79879

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
22644376 GOA
Biological Process GO Annotation Evidence References 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

ERK-JNK_inhib: ERK and JNK pathways, inhibitor (32 - 224)

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

coiled-coil domain-containing protein 134

CCDC134 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CCDC134 Q9H6E4 TADA2A Homo sapiens O75478
Y2H
22644376
Intra
CCDC134 Q9H6E4 TADA2A Homo sapiens O75478
Pull Down
22644376
Intra
CCDC134 Q9H6E4 TADA2A Homo sapiens O75478
IF
22644376
Intra
CCDC134 Q9H6E4 TADA2A Homo sapiens O75478
Anti Tag CoIP
22644376
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CCDC134 Proteins

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

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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02028 CCDC134 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21993 Ccdc134 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28510 Ccdc134 Rat Pre-designed siRNA Set A Pre-designed Set / 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