Gene Gene information from NCBI Gene database.
Entrez ID 51267
Gene name C-type lectin domain family 1 member A
Gene symbol CLEC1A
Synonyms (NCBI Gene)
CLEC-1CLEC1
Chromosome 12
Chromosome location 12p13.2
Summary This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles i
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs2306894 C>A,G Risk-factor Coding sequence variant, 5 prime UTR variant, missense variant
miRNA miRNA information provided by mirtarbase database.
54
miRTarBase ID miRNA Experiments Reference
MIRT023827 hsa-miR-1-3p Microarray 18668037
MIRT895789 hsa-miR-1265 CLIP-seq
MIRT895790 hsa-miR-134 CLIP-seq
MIRT895791 hsa-miR-186 CLIP-seq
MIRT895792 hsa-miR-3118 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IBA
GO:0004888 Function Transmembrane signaling receptor activity TAS 10671229
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane TAS 10671229
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606782 24355 ENSG00000150048
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NC01
Protein name C-type lectin domain family 1 member A (C-type lectin-like receptor 1) (CLEC-1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00059 Lectin_C 154 259 Lectin C-type domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed preferentially in dendritic cells. {ECO:0000269|PubMed:10671229}.
Sequence
MQAKYSSTRDMLDDDGDTTMSLHSQGSATTRHPEPRRTEHRAPSSTWRPVALTLLTLCLV
LLIGLAALGLLFFQYYQLSNTGQDTISQMEERLGNTSQELQSLQVQNIKLAGSLQHVAEK
LCRELYNKAGAHRCSPCTEQWKWHGDNCYQFYKDSKSWEDCKYFCLSENSTMLKINKQED
LEFAASQSYSEFFYSYWTGLLRPDSGKAWLWMDGTPFTSELFHIIIDVTSPRSRDCVAIL
NGMIFSKDCKELKRCVCER
RAGMVKPESLHVPPETLGEGD
Sequence length 280
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
Aspergillosis, susceptibility to Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Acute Kidney Injury Associate 36385130
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus Systemic Associate 36327221
★☆☆☆☆
Found in Text Mining only