CCDC7 (coiled-coil domain containing 7)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 79741
Gene name Coiled-coil domain containing 7
Gene symbol CCDC7
Synonyms (NCBI Gene)
BIOT2BioT2-ABioT2-BBioT2-CC10orf68
Chromosome 10
Chromosome location 10p11.22
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT026707 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
619444 26533 ENSG00000216937
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96M83
Protein name Coiled-coil domain-containing protein 7 (Protein BIOT2)
Protein function May play a role in tumorigenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15368 BioT2 1 → 170 Spermatogenesis family BioT2 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in epithelium of normal cervix and cervical cancer. Overexpressed in early and interim cervical cancer. {ECO:0000269|PubMed:21109960}.
Sequence 
MKPVKHLLTTSNKSANVPALTTKKGLHNLPLSPELKEKHNAKLIHDKIEPMVLRSPPTGE
SILRYALPIPSSKTKNLLPEDEMIGKIIKHLKMVVSTLEETYGHCDQNGEEPFVKHEHEE
LSLSVGDDMNSFLTYCSQFAAQLEEALKEEQNILESLFKWFQWQVNQMEEISKDQTLLQA
EPPKPDKTVILNIAEIVRLVQRFEELKNRLKQRSKSSVKVMLSKTMDKENRPEAVKSCEA
LAQKIEEFLEAHSTDEFKDVSATEPQTAHSMTNRFNAMLKVFENQANMLERAVNDQVLLD
AEYKQMQCDFQLLSEEKLVLENELQKLKDKEKTKPTNNRTKKAVKTVKKKDKGKSEDSEK
KMSPEKEFKIKEDLDQVQKVARLEIENKVLQEQLKQALQEAEKAKHQLNYFLNQEKLLKS
EGKTETTMQVGNSQTKVKGEDSKNIPLEKETRKSLVSDSGGQRTSDKIQEYPQITAQSGR
LIEKSSEKKRSSPAISDLSQILKSQDESAFLESSNEVSVAENQSYKSPSETHDKSLTTVS
SSKEVQDSLSVGTLAQKNETVISPFILPPVLTESKKADVSEEQLQKMTEEQTYQAAEKSQ
ADSEVPDENLMVENKDSVTKVQIEQMKQRTSSMERHEETLTTPQLPEDMVLVSRIQSETK
NLKATRNESFHSHNDVPEENLMLEQDTKSKTEVEVKKQKSFQDNQLSTHNEVPNERLVVE
HQESLSKTKLQIKKQETSTEQPLTTPDKEPNENLILRHQDSMSKSEMQVKEQRTLKGQRI
ITHDEEPGKNLVLEHQDSVSKLEMQIEKTKKLPREKRHSTHDEESGENPMLKHQDSVSKI
QVQLEIQETSEGEGRSIPDKNSMFVHQDSVSKLQMQEKKKITPGRERRNTRIVVPNENVI
SVHQDSKSKLQMQEKKQINSGVERHKTFPLEIKKKDISLEHLLPEEKVLLSRSESQTKKL
QAKVTSRKIKNEAASELPDTAENLPAMYPSISDLIIQFDLNKVVETDIESLRGALGRRLL
NDEFKTQSKSFPGPDIEQLTDAFGRDILKDEFKTRSKSLPETDERLHSTTERGTINDAIK
TQLKRKSYPETVLKHLKGVNGKDIIKHLINIQSKSHGETDKEHLADDTGRGIIKGSINAQ
LKGHQKTDKNFFAYATGRGLMKESTTTQLKSHPETDKEFLADAIGRGIIIGPITTQLKSH
RETDKELLKDAIGRDIIKGPISAQLKSHQETDVEPLTNAIGSSKTIGEIKTQLRTHYDVN
LFKNKDMSVQRQEGIFTRSITPSKFPTKVINLSPFENKEETYEYSSPYVTAPSKAIYRTY
RAGPSFSKDIHLPLLNQLPSGHSKVVTLSQKTIEFTLPTVTNTVGKPTYKVLHAAARKSV
PHPYF
Sequence length 1385
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene miRNA Gene ontology Other IDs Protein 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)
Show/Hide Unknown Diseases (5)
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
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FOCAL SEGMENTAL GLOMERULOSCLEROSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autism Spectrum Disorder Autism Pubtator 24650168 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 18027117 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Endometrial Carcinoma Endometrial carcinoma BEFREE 18027117
★★★★★
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 18027117 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 25626716 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of endometrium Endometrial Cancer BEFREE 18027117
★★★★★
★☆☆☆☆
Found in Text Mining only