CCDC154 (coiled-coil domain containing 154)

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Gene Gene information from NCBI Gene database.
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Entrez ID 645811
Gene name Coiled-coil domain containing 154
Gene symbol CCDC154
Synonyms (NCBI Gene)
C16orf29
Chromosome 16
Chromosome location 16p13.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
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GO ID Ontology Definition Evidence Reference
GO:0005768 Component Endosome IEA
GO:0005769 Component Early endosome IEA
GO:0035630 Process Bone mineralization involved in bone maturation IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
618740 34454 ENSG00000197599
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NI56
Protein name Coiled-coil domain-containing protein 154
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15450 CCDC154 55 → 576 Coiled-coil domain-containing protein 154 Family
Sequence 
MSELADSGPSGASAPSQLRAVTLEDLGLLLAGGLASPEPLSLEELSERYESSHPTSTASV
PEQDTAKHWNQLEQWVVELQAEVACLREHKQRCERATRSLLRELLQVRARVQLQGSELRQ
LQQEARPAAQAPEKEAPEFSGLQNQMQALDKRLVEVREALTRLRRRQVQQEAERRGAEQE
AGLRLAKLTDLLQQEEQGREVACGALQKNQEDSSRRVDLEVARMQAQVTKLGEEVSLRFL
KREAKLCGFLQKSFLALEKRMKASESSRLKLEGSLRGELESRWEKLRGLMEERLRALQGQ
HEESHLLEQCQGLDAAVAQLTKFVQQNQASLNRVLLAEEKAWDAKGRLEESRAGELAAYV
QENLEAAQLAGELARQEMHGELVLLREKSRALEASVAQLAGQLKELSGHLPALSSRLDLQ
EQMLGLRLSEAKTEWEGAERKSLEDLARWRKEVTEHLRGVREKVDGLPQQIESVSDKCLL
HKSDSDLRISAEGKAREFKVGALRQELATLLSSVQLLKEDNPGRKIAEMQGKLATFQNQI
MKLENCVQANKTIQNLRFNTEARLRTQEMATLWESVLRLWSEEGPRTPLGSWKALPSLVR
PRVFIKDMAPGKVVPMNCWGVYQAVRWLRWKASLIKLRALRRPGGVLEKPHSQEQVQQLT
PSLFIQK
Sequence length 667
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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 Reference Evidence Score
Malignant tumor of esophagus Uncertain significance ClinVar —
★★★★★
★★☆☆☆
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
Neoplasms Neoplasms BEFREE 22895184
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteopetrosis Osteopetrosis BEFREE 22895184
★★★★★
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease BEFREE 31572530
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for CCDC154.

No additional diseases found yet through genes similar to CCDC154.