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Gene Gene information from NCBI Gene database.
Entrez ID 728597
Gene name Doublecortin domain containing 2C
Gene symbol DCDC2C
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p25.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9 Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IDA 28395323
GO:0005737 Component Cytoplasm IEA
GO:0005815 Component Microtubule organizing center IBA
GO:0005874 Component Microtubule IBA
GO:0005929 Component Cilium IEA
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.
A8MYV0
Protein name Doublecortin domain-containing protein 2C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03607 DCX 34 → 92 Doublecortin Family
PF03607 DCX 154 → 211 Doublecortin Family
Tissue specificity TISSUE SPECIFICITY: Expressed in testis and spermatozoa (at protein level). {ECO:0000269|PubMed:28395323}.
Sequence
MGTRGPSAPVDTTPAKTIVVYRNGDPFYVGKKFVLSRRRAATFEALLEQLTEQVDVPFGV
RRLFTPTRGHRVLGLDALQAGGKYVAAGRERF
KELDYIHIVPRKPAKIRKLKEIKPVVHC
DINVPSKWQTYHRISRHINVFTNGRLFIPPAKIIIPKFSLSDWDIVLATIGEKVFPLGGV
RKLFTMNGHLLGDSKDLQDNHFYVAVGLETF
KYFPYWKSPRVPSEVQQRYANVEKNSQRK
KKVDSKGKEPCKYDGIPPKTQDSVYYAKEEKKKTLAEPLVQRGAEGDVYKAPTPSKETQG
ALDVKEEHNVQLEVPVDQRQAEIVKEDEEIHENTPDFEGNKDKEDARLCEDVERKMAREW
KPVD
Sequence length 364
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
Cobalamin C disease Uncertain significance ClinVar
Disgenet
—
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
TYPE 2 DIABETES MELLITUS — GWAS catalog 21490949
★★★★★
★★☆☆☆
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
Narcolepsy Narcolepsy GWASDB_DG 19629137
★★★★★
★☆☆☆☆
Found in Text Mining only
Pulmonary Disease Chronic Obstructive Chronic obstructive pulmonary disease Pubtator 29313708 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Rheumatoid Arthritis Rheumatoid arthritis GWASDB_DG 22491018
★★★★★
★☆☆☆☆
Found in Text Mining only