CCBE1 (collagen and calcium binding EGF domains 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
147372
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen and calcium binding EGF domains 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CCBE1
Synonyms (NCBI Gene) Gene synonyms aliases
HKLLS1
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.32
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs61745250 G>A Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs121908250 A>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs121908251 C>G Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs121908252 C>G Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs121908253 G>A,C Uncertain-significance, pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(573)
miRTarBase ID miRNA Experiments Reference
MIRT721095 hsa-miR-584-3p HITS-CLIP 19536157
MIRT721094 hsa-miR-4277 HITS-CLIP 19536157
MIRT721093 hsa-miR-3183 HITS-CLIP 19536157
MIRT721092 hsa-miR-4723-3p HITS-CLIP 19536157
MIRT721091 hsa-miR-6769b-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(26)
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001945 Process Lymph vessel development IEA
GO:0001946 Process Lymphangiogenesis IEA
GO:0001946 Process Lymphangiogenesis IMP 19935664
GO:0001946 Process Lymphangiogenesis ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612753 29426 ENSG00000183287
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6UXH8
Protein name Collagen and calcium-binding EGF domain-containing protein 1 (Full of fluid protein homolog)
Protein function Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07645 EGF_CA 134 → 174 Calcium-binding EGF domain Domain
PF01391 Collagen 245 → 293 Collagen triple helix repeat (20 copies) Repeat
Tissue specificity TISSUE SPECIFICITY: Detected in fibroblasts and urine (at protein level) (PubMed:25326458, PubMed:36213313, PubMed:37453717). Not expressed in blood or lymphatic endothelial cells. {ECO:0000269|PubMed:19287381, ECO:0000269|PubMed:25326458, ECO:0000269|Pub
Sequence 
MVPPPPSRGGAARGQLGRSLGPLLLLLALGHTWTYREEPEDGDREICSESKIATTKYPCL
KSSGELTTCYRKKCCKGYKFVLGQCIPEDYDVCAEAPCEQQCTDNFGRVLCTCYPGYRYD
RERHRKREKPYCLDIDECASSNGTLCAHICINTLGSYRCECREGYIREDDGKTCTRGDKY
PNDTGHEKSENMVKAGTCCATCKEFYQMKQTVLQLKQKIALLPNNAADLGKYITGDKVLA
SNTYLPGPPGLPGGQGPPGSPGPKGSPGFPGMPGPPGQPGPRGSMGPMGPSPDLSHIKQG
RRGPVGPPGAPGRDGSKGERGAPGPRGSPGPPGSFDFLLLMLADIRNDITELQEKVFGHR
THSSAEEFPLPQEFPSYPEAMDLGSGDDHPRRTETRDLRAPRDFYP
Sequence length 406
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hennekam lymphangiectasia-lymphedema syndrome hennekam lymphangiectasia-lymphedema syndrome 1 rs121908250, rs121908251, rs121908252, rs563023244, rs121908254 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hennekam Syndrome Hennekam syndrome N/A N/A GenCC
Mental Depression Major depressive disorder N/A N/A GWAS
Show/Hide Text Mining Associations (23)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aagenaes syndrome Associate 24086631
Breast Neoplasms Inhibit 19935792
Breast Neoplasms Associate 28419078
Cholestasis Associate 24086631
Colorectal Neoplasms Stimulate 36781122
Gastrointestinal Stromal Tumors Associate 27506146
Hennekam lymphangiectasia lymphedema syndrome Associate 24086631, 26686525, 28985353, 32629717, 34234628
Hydrops Fetalis Associate 24086631
Lung Neoplasms Associate 29207117
Lymphangiectasis Intestinal Associate 32629717