Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	79879
Gene name	Coiled-coil domain containing 134
Gene symbol	CCDC134
Synonyms (NCBI Gene)	OI22
Chromosome	22
Chromosome location	22q13.2

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

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)

Show/Hide Causal Diseases (3)

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)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

CCDC134 (coiled-coil domain containing 134)