CCDC148 (coiled-coil domain containing 148)

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Gene Gene information from NCBI Gene database.
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Entrez ID 130940
Gene name Coiled-coil domain containing 148
Gene symbol CCDC148
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2q24.1
miRNA miRNA information provided by mirtarbase database.
9 Show/Hide all (9)
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miRTarBase ID miRNA Experiments Reference
MIRT868388 hsa-miR-4291 CLIP-seq
MIRT868389 hsa-miR-545 CLIP-seq
MIRT1957678 hsa-miR-1229 CLIP-seq
MIRT1957679 hsa-miR-342-3p CLIP-seq
MIRT1957680 hsa-miR-374a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19060904, 25416956
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
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.
Q8NFR7
Protein name Coiled-coil domain-containing protein 148
Family and domains
Sequence 
MCAASASPDNLVFHMKNEMRNIKYKPVDYQQLRALTEAKKLASASAKLKIRKAMLTSKLS
KEQTLIKQHKQVWWQEYQRLNEVRCKMESEIKSLLNEENIGNECLCDLTNFEQELSEQQC
TYLKNVINPIQQLRADLKYRQHHTLQHSHPHIEFNSMKVLEEVDFVKKQLKTVFERLRLE
QQRIENDLSDWSIKILDHSLEEKTNPLSELPIELESLECPYPDLKSSILSEFYKFTQKYQ
KKLQDFNLQLEDIYRNCQLSEEDHWIYQAILDQYPGDLFGRRTLYLDMLQRYFPHKSRHD
LVEHEKYCDQYRFAIEQQNILISNWNKNKKDFIQKAVLTLTEACATHEMESMLAKDKKKQ
QELCADLKAKVRQWRAHQEEVARLEMEISARRREKEEEKEKLWKKKELLQRAEKKKKIKK
YWAKKKQKWQEMEMRDLQRLEELKKLIAEQSLKDRERVKYRQELLERRLMEKKEVALQEA
HEDKERARRLEALRKQVAVVAQFDPVRMMSDTMASKARMGIEIEEEFILQKPLFTLNTYN
EQQIISDPRLRFELALREAGLHRTLYAKEILPKISPQKPPRKDMESTVFKI
Sequence length 591
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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.
Show/Hide Unknown Diseases (8)
Phenotype Name Clinical Significance Source Reference Evidence Score
CARDIOVASCULAR DISEASE — GWAS catalog 30595370
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER — GWAS catalog 38538606
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA — GWAS catalog 30804565, 35835914
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER — GWAS catalog 34099189
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDER — GWAS catalog 39024449
★★★★★
★★☆☆☆
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
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★★★★★
★☆☆☆☆
Found in Text Mining only
Restless Legs Syndrome Restless Legs Syndrome GWASCAT_DG 29029846
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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LMO1 3 shared diseasesMovement disorder, Periodic limb movement disorder, Willis-ekbom disease 3 shared evidence sourcesGWAS catalog (Movement disorder), GWAS catalog (Periodic limb movement disorder), GWAS catalog (Willis-ekbom disease) Related via 3 shared diseases including Movement disorder, Periodic limb movement disorder — evidence mostly GWAS catalog. BTBD9 3 shared diseasesMovement disorder, Periodic limb movement disorder, Willis-ekbom disease 3 shared evidence sourcesGWAS catalog (Movement disorder), GWAS catalog (Periodic limb movement disorder), GWAS catalog (Willis-ekbom disease) Related via 3 shared diseases including Movement disorder, Periodic limb movement disorder — evidence mostly GWAS catalog. STK33 3 shared diseasesMovement disorder, Periodic limb movement disorder, Willis-ekbom disease 3 shared evidence sourcesGWAS catalog (Movement disorder), GWAS catalog (Periodic limb movement disorder), GWAS catalog (Willis-ekbom disease) Related via 3 shared diseases including Movement disorder, Periodic limb movement disorder — evidence mostly GWAS catalog. MAP2K5 3 shared diseasesMovement disorder, Periodic limb movement disorder, Willis-ekbom disease 3 shared evidence sourcesGWAS catalog (Movement disorder), GWAS catalog (Periodic limb movement disorder), GWAS catalog (Willis-ekbom disease) Related via 3 shared diseases including Movement disorder, Periodic limb movement disorder — evidence mostly GWAS catalog. MEIS1 3 shared diseasesMovement disorder, Periodic limb movement disorder, Willis-ekbom disease 3 shared evidence sourcesGWAS catalog (Movement disorder), GWAS catalog (Periodic limb movement disorder), GWAS catalog (Willis-ekbom disease) Related via 3 shared diseases including Movement disorder, Periodic limb movement disorder — evidence mostly GWAS catalog.
Diabetes mellitus type 2 Linked via 5 of 5 related genesLMO1, BTBD9, STK33, MAP2K5, MEIS1 Metabolic syndrome Linked via 3 of 5 related genesBTBD9, STK33, MAP2K5 Alzheimer disease Linked via 2 of 5 related genesBTBD9, MAP2K5 Sleep apnea Linked via 2 of 5 related genesBTBD9, MEIS1 Sleep disorder Linked via 2 of 5 related genesBTBD9, MEIS1