C2CD4D (C2 calcium dependent domain containing 4D)

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Gene Gene information from NCBI Gene database.
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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.
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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.
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
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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
ATOPIC ECZEMA — GWAS catalog 35577104
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA — GWAS catalog 34290314
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for C2CD4D.

No additional diseases found yet through genes similar to C2CD4D.