CCDC34 (coiled-coil domain containing 34)

Gene

• Entrez ID: 91057
• Gene name: Coiled-coil domain containing 34
• Gene symbol: CCDC34
• Synonyms (NCBI Gene): L15, NY-REN-41, RAMA3, SPGF76
• Chromosome: 11
• Chromosome location: 11p14.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030787	hsa-miR-21-5p	Microarray	18591254
MIRT868841	hsa-miR-3920	CLIP-seq
MIRT868842	hsa-miR-4468	CLIP-seq
MIRT868843	hsa-miR-4762-3p	CLIP-seq
MIRT868844	hsa-miR-618	CLIP-seq
MIRT868845	hsa-miR-132	CLIP-seq
MIRT868846	hsa-miR-21	CLIP-seq
MIRT868847	hsa-miR-212	CLIP-seq
MIRT868848	hsa-miR-3148	CLIP-seq
MIRT868849	hsa-miR-3622b-5p	CLIP-seq
MIRT868850	hsa-miR-3668	CLIP-seq
MIRT868851	hsa-miR-3924	CLIP-seq
MIRT868852	hsa-miR-4282	CLIP-seq
MIRT868853	hsa-miR-4428	CLIP-seq
MIRT868854	hsa-miR-4452	CLIP-seq
MIRT868855	hsa-miR-4653-3p	CLIP-seq
MIRT868856	hsa-miR-4668-5p	CLIP-seq
MIRT868857	hsa-miR-4704-3p	CLIP-seq
MIRT868858	hsa-miR-4756-3p	CLIP-seq
MIRT868859	hsa-miR-4779	CLIP-seq
MIRT868860	hsa-miR-548n	CLIP-seq
MIRT868861	hsa-miR-561	CLIP-seq
MIRT868862	hsa-miR-590-5p	CLIP-seq
MIRT868863	hsa-miR-938	CLIP-seq
MIRT868846	hsa-miR-21	CLIP-seq
MIRT868850	hsa-miR-3668	CLIP-seq
MIRT868851	hsa-miR-3924	CLIP-seq
MIRT868862	hsa-miR-590-5p	CLIP-seq
MIRT868863	hsa-miR-938	CLIP-seq
MIRT868848	hsa-miR-3148	CLIP-seq
MIRT868852	hsa-miR-4282	CLIP-seq
MIRT2446421	hsa-miR-656	CLIP-seq
MIRT2498162	hsa-miR-30a	CLIP-seq
MIRT2498163	hsa-miR-30b	CLIP-seq
MIRT2498164	hsa-miR-30c	CLIP-seq
MIRT2498165	hsa-miR-30d	CLIP-seq
MIRT2498166	hsa-miR-30e	CLIP-seq
MIRT2498167	hsa-miR-488	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005929	Component	Cilium	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	IMP	34348960
GO:0031514	Component	Motile cilium	IEA
GO:0042995	Component	Cell projection	IEA
GO:0097225	Component	Sperm midpiece	IDA	34348960
GO:0097225	Component	Sperm midpiece	IEA

Other IDs

• MIM: 612324
• HGNC: 25079
• e!Ensembl: ENSG00000109881

Protein

• UniProt ID: Q96HJ3
• Protein name: Coiled-coil domain-containing protein 34 (Renal carcinoma antigen NY-REN-41)
• Protein function: Involved in spermatogenesis. Has a probable role in anterograde intraflagellar transport which is essential for the formation of sperm flagella.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13904	DUF4207	60 → 321	Domain of unknown function (DUF4207)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in sperm. {ECO:0000269|PubMed:34348960}.
• Sequence:

  MWAAGRWGPTFPSSYAGFSADCRPRSRPSSDSCSVPMTGARGQGLEVVRSPSPPLPLSCS
  NSTRSLLSPLGHQSFQFDEDDGDGEDEEDVDDEEDVDEDAHDSEAKVASLRGMELQGCAS
  TQVESENNQEEQKQVRLPESRLTPWEVWFIGKEKEERDRLQLKALEELNQQLEKRKEMEE
  REKRKIIAEEKHKEWVQKKNEQKRKEREQKINKEMEEKAAKELEKEYLQEKAKEKYQEWL
  KKKNAEECERKKKEKEKEKQQQAEIQEKKEIAEKKFQEWLENAKHKPRPAAKSYGYANGK
  LTGFYSGNSYPEPAFYNPIPWKPIHMPPPKEAKDLSGRKSKRPVISQPHKSSSLVIHKAR
  SNLCLGTLCRIQR

• Sequence length: 373

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Spermatogenic failure 76	Pathogenic	rs773019149, rs2494726862	RCV002292196 RCV002292197	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	29257799		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	26312564		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26312564		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30458457		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30458457		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29115580		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29115580		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29115580	Stimulate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29397026	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	29115580, 29397026		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29115580	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29397026, 30458457	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	29115580		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	26312564		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29257799, 30458457		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30458457		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29115580		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29257799	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29397026		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	29115580, 29397026	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30458457	Associate	★☆☆☆☆ Found in Text Mining only