Gene Gene information from NCBI Gene database.
Entrez ID 120935
Gene name Coiled-coil domain containing 38
Gene symbol CCDC38
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q23.1
miRNA miRNA information provided by mirtarbase database.
134
miRTarBase ID miRNA Experiments Reference
MIRT018106 hsa-miR-335-5p Microarray 18185580
MIRT508325 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT514619 hsa-miR-410-3p HITS-CLIP 21572407
MIRT508324 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT508323 hsa-miR-567 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0001675 Process Acrosome assembly IEA
GO:0001675 Process Acrosome assembly ISS
GO:0002177 Component Manchette IEA
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q502W7
Protein name Coiled-coil domain-containing protein 38
Protein function Essential for male fertility. Required for sperm flagellum biogenesis. Also required for acrosome biogenesis. Required for the attachment of developing acrosomes to the nucleus during spermiogenesis and may be involved in the transport of fibrou
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13863 DUF4200 112 230 Domain of unknown function (DUF4200) Family
Sequence
MSSNLLPTLNSGGKVKDGSTKEDRPYKIFFRDLFLVKENEMAAKETEKFMNRNMKVYQKT
TFSSRMKSHSYLSQLAFYPKRSGRSFEKFGPGPAPIPRLIEGSDTKRTVHEFINDQRDRF
LLEYALSTKRNTIKKFEKDIAMRERQLKKAEKKLQDDALAFEEFLRENDQRSVDALKMAA
QETINKLQMTAELKKASMEVQAVKSEIAKTEFLLREYMKYGFFLLQMSPK
HWQIQQALKR
AQASKSKANIILPKILAKLSLHSSNKEGILEESGRTAVLSEDASQGRDSQGKPSRSLTRT
PEKKKSNLAESFGSEDSLEFLLDDEMDVDLEPALYFKEPEELLQVLRELEEQNLTLFQYS
QDVDENLEEVNKREKVIQDKTNSNIEFLLEQEKMLKANCVREEEKAAELQLKSKLFSFGE
FNSDAQEILIDSLSKKITQVYKVCIGDAEDDGLNPIQKLVKVESRLVELCDLIESIPKEN
VEAIERMKQKEWRQKFRDEKMKEKQRHQQERLKAALEKAVAQPKKKLGRRLVFHSKPPSG
NKQQLPLVNETKTKSQEEEYFFT
Sequence length 563
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
LUPUS NEPHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Pulmonary Disease Chronic Obstructive Chronic obstructive pulmonary disease Pubtator 24786987 Associate
★☆☆☆☆
Found in Text Mining only