Gene Gene information from NCBI Gene database.
Entrez ID 25966
Gene name C2 calcium dependent domain containing 2
Gene symbol C2CD2
Synonyms (NCBI Gene)
C21orf25C21orf258TMEM24L
Chromosome 21
Chromosome location 21q22.3
miRNA miRNA information provided by mirtarbase database.
448
miRTarBase ID miRNA Experiments Reference
MIRT047619 hsa-miR-10a-5p CLASH 23622248
MIRT041416 hsa-miR-193b-3p CLASH 23622248
MIRT630602 hsa-miR-320a HITS-CLIP 23824327
MIRT630601 hsa-miR-320b HITS-CLIP 23824327
MIRT630600 hsa-miR-320c HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus HDA 16780588
GO:0005829 Component Cytosol HDA 16780588
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617581 1266 ENSG00000157617
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y426
Protein name C2 domain-containing protein 2 (Transmembrane protein 24-like)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18696 SMP_C2CD2L 77 227 Synaptotagmin-like, mitochondrial and lipid-binding domain Domain
PF00168 C2 234 364 C2 domain Domain
Sequence
MAMARLGSWLGEAQWLALVSLFVAALATVGLYLAQWALARARPQPQRRAVEPGEGPRPGS
DALLSWILTLGSWRSQWQAAWVTALNEEAERKGGPPFLSFEEDPRQQALELVVQEVSSVL
RSAEEKVVVCHVVGQAIQFLVSETPALGAGCRLYDMRLSPFHLQLEFHMKEKREDLQISW
SFISVPEMAVNIQPKALGEDQVAETSAMSDVLKDILKHLAGSASPSV
VLITKPTTVKEAQ
NLQCAASTAQESCPPKPPRAHELKLLVRNIHVLLLSEPGASGHINAVCVVQLNDPVQRFS
STLTKNTPDLMWEEEFTFELNAKSKELHLQISEAGRSSEGLLATATVPLDLFKKQPSGPQ
SFTL
TSGSACGSSVLGSVTAEFSYMEPGELKSWPIPPPVPAAKIEKDRTVMPCGTVVTTV
TAVKTKPRVDVGRASPLSSDSPVKTPIKVKVIEKDISVQAIACRSAPVSKTLSSSDTELL
VLNGSDPVAEVAIRQLSESSKLKLKSPRKKSTIIISGISKTSLSQDHDAALMQGYTASVD
STHQEDAPSHPERAAASAPPEEAESAQASLAPKPQEDELDSWDLEKEPQAAAWSSQVLLD
PDGDELSESSMSVLEPGTAKKHKGGILRKGAKLFFRRRHQQKDPGMSQSHNDLVFLEQPE
GSRRKGITLTRILNKKLLSRHRNKNTMNGAPVEPCT
Sequence length 696
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 Evidence Score
COLORECTAL ADENOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations