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	57639
Gene name	Coiled-coil domain containing 146
Gene symbol	CCDC146
Synonyms (NCBI Gene)	MBO2SPGF94
Chromosome	7
Chromosome location	7q11.23

Show/Hide all (14)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017684	hsa-miR-335-5p	Microarray	18185580
MIRT868370	hsa-miR-1178	CLIP-seq
MIRT868371	hsa-miR-146a	CLIP-seq
MIRT868372	hsa-miR-146b-5p	CLIP-seq
MIRT868373	hsa-miR-23a	CLIP-seq
MIRT868374	hsa-miR-23b	CLIP-seq
MIRT868375	hsa-miR-23c	CLIP-seq
MIRT868376	hsa-miR-3622a-3p	CLIP-seq
MIRT868377	hsa-miR-3622b-3p	CLIP-seq
MIRT868378	hsa-miR-4461	CLIP-seq
MIRT868379	hsa-miR-4773	CLIP-seq
MIRT868380	hsa-miR-5096	CLIP-seq
MIRT868381	hsa-miR-580	CLIP-seq
MIRT868382	hsa-miR-589	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 29892012, 30094225, 31515488, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	30094225
GO:0005814	Component	Centriole	IDA	25074808, 38441556
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IDA	38441556
GO:0005930	Component	Axoneme	IEA
GO:0006997	Process	Nucleus organization	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	IMP	38441556
GO:0007286	Process	Spermatid development	ISS
GO:0007288	Process	Sperm axoneme assembly	IEA
GO:0007288	Process	Sperm axoneme assembly	ISS
GO:0007338	Process	Single fertilization	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030496	Component	Midbody	IDA	38441556
GO:0030496	Component	Midbody	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0036064	Component	Ciliary basal body	IDA	38441556
GO:0036126	Component	Sperm flagellum	IDA	38441556
GO:0036126	Component	Sperm flagellum	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0120212	Component	Sperm head-tail coupling apparatus	IEA
GO:0120212	Component	Sperm head-tail coupling apparatus	ISS
GO:0120316	Process	Sperm flagellum assembly	IEA
GO:0120316	Process	Sperm flagellum assembly	ISS
GO:1905198	Process	Manchette assembly	IEA
GO:1905198	Process	Manchette assembly	ISS

MIM	HGNC	e!Ensembl
619829	29296	ENSG00000135205

Q8IYE0

Protein name

Coiled-coil domain-containing protein 146

Protein function

Essential for sperm flagellum biogenesis and male fertility.

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:38441556}.

Sequence

MEDSSTDTEKEEEEEKDEKDQEPIYAIVPTINIQDERFVDLSETPAFIFLHELHAMGKLP
GTRMAALKAKYTLLHDAVMSTQESEVQLLQNAKRFTEQIQQQQFHLQQADNFPEAFSTEV
SKMREQLLKYQNEYNAVKEREFHNQYRLNSLKEEKIIIVKEFEKITKPGEMEKKMKILRE
STEELRKEIMQKKLEIKNLREDLASKQKQLLKEQKELEELLGHQVVLKDEVAHHQTIPVQ
IGKEIEKITRKKVEMEKKKIVLEQEVKTLNDSLKKVENKVSAIVDEKENVIKEVEGKRAL
LEIKEREHNQLVKLLELARENEATSLTERGILDLNLRNSLIDKQNYHDELSRKQREKERD
FRNLRKMELLLKVSWDALRQTQALHQRLLLEMEAIPKDDSTLSERRRELHKEVEVAKRNL
AQQKIISEMESKLVEQQLAEENKLLKEQENMKELVVNLLRMTQIKIDEKEQKSKDFLKAQ
QKYTNIVKEMKAKDLEIRIHKKKKCEIYRRLREFAKLYDTIRNERNKFVNLLHKAHQKVN
EIKERHKMSLNELEILRNSAVSQERKLQNSMLKHANNVTIRESMQNDVRKIVSKLQEMKE
KKEAQLNNIDRLANTITMIEEEMVQLRKRYEKAVQHRNESGVQLIEREEEICIFYEKINI
QEKMKLNGEIEIHLLEEKIQFLKMKIAEKQRQICVTQKLLPAKRSLDADLAVLQIQFSQC
TDRIKDLEKQFVKPDGENRARFLPGKDLTEKEMIQKLDKLELQLAKKEEKLLEKDFIYEQ
VSRLTDRLCSKTQGCKQDTLLLAKKMNGYQRRIKNATEKMMALVAELSMKQALTIELQKE
VREKEDFIFTCNSRIEKGLPLNKEIEKEWLKVLRDEEMHALAIAEKSQEFLEADNRQLPN
GVYTTAEQRPNAYIPEADATLPLPKPYGALAPFKPSEPGANMRHIRKPVIKPVEI

Sequence length

955

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
Male infertility due to sperm motility disorder	Pathogenic	rs1327651159, rs371350411	RCV003779234 RCV003881709	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with spermatogenesis disorder due to single gene mutation	Pathogenic	rs371350411, rs1327651159	RCV003761683 RCV003761684	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 94	Pathogenic	rs1327651159, rs371350411	RCV004577042 RCV004577046	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

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.
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC EYE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROVASCULAR COMPLICATIONS OF DIABETES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	30670769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36038676	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33430853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30670769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CCDC146 (coiled-coil domain containing 146)