Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	79879
Gene name	Coiled-coil domain containing 134
Gene symbol	CCDC134
Synonyms (NCBI Gene)	OI22
Chromosome	22
Chromosome location	22q13.2

91 Show/Hide all (91)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023784	hsa-miR-1-3p	Proteomics	18668040
MIRT032346	hsa-let-7b-5p	Proteomics	18668040
MIRT650062	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT650061	hsa-miR-4267	HITS-CLIP	23824327
MIRT650060	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT650059	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT650056	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT650069	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT650068	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT650067	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT650066	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT650065	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT650064	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT650063	hsa-miR-3943	HITS-CLIP	23824327
MIRT650062	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT650061	hsa-miR-4267	HITS-CLIP	23824327
MIRT650060	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT650059	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT650058	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT650057	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT650056	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT650062	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT650061	hsa-miR-4267	HITS-CLIP	23824327
MIRT650060	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT650059	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT650056	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT650069	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT650068	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT650067	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT650066	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT650065	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT650064	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT650063	hsa-miR-3943	HITS-CLIP	23824327
MIRT650062	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT650061	hsa-miR-4267	HITS-CLIP	23824327
MIRT650060	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT650059	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT650058	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT650057	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT650056	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT868020	hsa-miR-1182	CLIP-seq
MIRT868021	hsa-miR-1207-3p	CLIP-seq
MIRT868022	hsa-miR-214	CLIP-seq
MIRT868023	hsa-miR-3119	CLIP-seq
MIRT868024	hsa-miR-3127-3p	CLIP-seq
MIRT868025	hsa-miR-3157-5p	CLIP-seq
MIRT868026	hsa-miR-3619-5p	CLIP-seq
MIRT868027	hsa-miR-4257	CLIP-seq
MIRT868028	hsa-miR-4291	CLIP-seq
MIRT868029	hsa-miR-4435	CLIP-seq
MIRT868030	hsa-miR-4459	CLIP-seq
MIRT868031	hsa-miR-4493	CLIP-seq
MIRT868032	hsa-miR-4527	CLIP-seq
MIRT868033	hsa-miR-4691-3p	CLIP-seq
MIRT868034	hsa-miR-4722-5p	CLIP-seq
MIRT868035	hsa-miR-761	CLIP-seq
MIRT868036	hsa-miR-922	CLIP-seq
MIRT1957558	hsa-miR-1910	CLIP-seq
MIRT1957559	hsa-miR-24	CLIP-seq
MIRT1957560	hsa-miR-4264	CLIP-seq
MIRT1957561	hsa-miR-455-3p	CLIP-seq
MIRT2194618	hsa-miR-1227	CLIP-seq
MIRT2194619	hsa-miR-15a	CLIP-seq
MIRT2194620	hsa-miR-15b	CLIP-seq
MIRT2194621	hsa-miR-16	CLIP-seq
MIRT2194622	hsa-miR-1914	CLIP-seq
MIRT2194623	hsa-miR-195	CLIP-seq
MIRT868022	hsa-miR-214	CLIP-seq
MIRT2194624	hsa-miR-3151	CLIP-seq
MIRT2194625	hsa-miR-3184	CLIP-seq
MIRT868026	hsa-miR-3619-5p	CLIP-seq
MIRT2194626	hsa-miR-3649	CLIP-seq
MIRT2194627	hsa-miR-423-5p	CLIP-seq
MIRT2194628	hsa-miR-424	CLIP-seq
MIRT2194629	hsa-miR-4489	CLIP-seq
MIRT2194630	hsa-miR-4492	CLIP-seq
MIRT2194631	hsa-miR-4498	CLIP-seq
MIRT2194632	hsa-miR-4505	CLIP-seq
MIRT2194633	hsa-miR-4514	CLIP-seq
MIRT2194634	hsa-miR-4530	CLIP-seq
MIRT2194635	hsa-miR-4640-5p	CLIP-seq
MIRT2194636	hsa-miR-4645-5p	CLIP-seq
MIRT2194637	hsa-miR-4673	CLIP-seq
MIRT2194638	hsa-miR-4685-5p	CLIP-seq
MIRT2194639	hsa-miR-4692	CLIP-seq
MIRT2194640	hsa-miR-4726-5p	CLIP-seq
MIRT2194641	hsa-miR-4755-3p	CLIP-seq
MIRT2194642	hsa-miR-492	CLIP-seq
MIRT2194643	hsa-miR-497	CLIP-seq
MIRT868035	hsa-miR-761	CLIP-seq
MIRT2194644	hsa-miR-762	CLIP-seq

19 Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001890	Process	Placenta development	IEA
GO:0005515	Function	Protein binding	IPI	22644376, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IDA	39509507
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005829	Component	Cytosol	IDA
GO:0016020	Component	Membrane	HDA	19946888
GO:0021591	Process	Ventricular system development	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IDA	39509507
GO:0030278	Process	Regulation of ossification	IMP	32181939
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	39509507
GO:0034126	Process	Positive regulation of MyD88-dependent toll-like receptor signaling pathway	IDA	38670073
GO:0035162	Process	Embryonic hemopoiesis	IEA
GO:0060049	Process	Regulation of protein glycosylation	IDA	39509507
GO:1990402	Process	Embryonic liver development	IEA

MIM	HGNC	e!Ensembl
618788	26185	ENSG00000100147

Q9H6E4

Protein name

Coiled-coil domain-containing protein 134

Protein function

Molecular adapter required to prevent protein hyperglycosylation of HSP90B1: during translation, associates with nascent HSP90B1 and the STT3A catalytic component of the OST-A complex and tethers them to a specialized translocon that forms a mic

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15002	ERK-JNK_inhib	22 → 223	ERK and JNK pathways, inhibitor	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in cervical gland, cervical squamous epithelium, endometrium, stomach, kidney distal convoluted tubule, spermatogenic cells in testis, mammary gland, liver and striated muscle (at protein level) (PubMed:18087676, PubMed:23070

Sequence

MDLLQFLAFLFVLLLSGMGATGTLRTSLDPSLEIYKKMFEVKRREQLLALKNLAQLNDIH
QQYKILDVMLKGLFKVLEDSRTVLTAADVLPDGPFPQDEKLKDAFSHVVENTAFFGDVVL
RFPRIVHYYFDHNSNWNLLIRWGISFCNQTGVFNQGPHSPILSLMAQELGISEKDSNFQN
PFKIDRTEFIPSTDPFQKALREEEKRRKKEEKRKEIRKGPRISRSQSEL

Sequence length

229

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Osteogenesis imperfecta, IIA 22	Pathogenic	rs1255441851	RCV001849093	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recurrent fractures	Pathogenic	rs1255441851	RCV000785184	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe progressive deforming recessive osteogenesis imperfecta (type III)	Pathogenic	rs1255441851	RCV002245667	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (12)
ALZHEIMER DISEASE	—	GWAS catalog	21123754	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	29059683	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	29059683	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	35332129	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCDC134-related condition	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	19233941	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA	—	Disgenet, GenCC Disgenet, GenCC	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XXII	—	Disgenet, HPO Disgenet, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (16)
Alzheimer Disease	Alzheimer disease	Pubtator	31500627	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	21123754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28571739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29548993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	32181939	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Disorders	Growth disorder	Pubtator	32181939	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	19233941		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	19233941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23070808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23070808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29548993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	32181939	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	32181939	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28571739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23070808		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MESD	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	[]	5	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]
P3H1	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	[]	5	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]
PPIB	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	[]	5	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]
TMEM38B	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	[]	5	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]
IFITM5	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	[]	5	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]

CCDC134 (coiled-coil domain containing 134)

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