C2CD4D (C2 calcium dependent domain containing 4D)

Gene Gene information from NCBI Gene database.
Gene Other IDs Protein Associated diseases
Entrez ID 100191040
Gene name C2 calcium dependent domain containing 4D
Gene symbol C2CD4D
Synonyms (NCBI Gene)
FAM148D
Chromosome 1
Chromosome location 1q21.3
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
B7Z1M9
Protein name C2 calcium-dependent domain-containing protein 4D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 232 → 338 C2 domain Domain
Sequence 
MWLLEKAGYKVGAAEPAARWAPSGLFSKRRAPGPPTSACPNVLTPDRIPQFFIPPRLPDP
GGAVPAARRHVAGRGLPATCSLPHLAGREGWAFLPESPHTRRRESLFHGPPPAPAGGLPA
AQSRLHVSAPDLRLCRAPDSDTASSPDSSPFGSPRPGLGRRRVSRPHSLSPEKASSADTS
PHSPRRAGPPTPPLFHLDFLCCQLRPTRESVLRLGPRGGQLRLSTEYQAGPGRLRLRLVS
AEGLPRPRSRPGSGGGGCCVVLRLRPRVRPREQQSRVVKCSANPIFNEDFFFDGLGPPDL
AARSLRAKVLDRGAGLRRDVLLGECETPLIALLPPLGGGLGPGSSLAPTHLSL
Sequence length 353
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene 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 (2)
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
ATOPIC ECZEMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations