Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4059
Gene name Gene Name - the full gene name approved by the HGNC.
Basal cell adhesion molecule (Lutheran blood group)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BCAM
Synonyms (NCBI Gene) Gene synonyms aliases
AU, B-CAM, CD239, F8/G253, LU, MSK19
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, an
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs3810141 C>A,T Pathogenic Synonymous variant, stop gained, coding sequence variant
rs121918132 C>G,T Pathogenic Stop gained, coding sequence variant, missense variant
rs121918133 C>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT490636 hsa-miR-634 PAR-CLIP 23592263
MIRT490634 hsa-miR-6510-5p PAR-CLIP 23592263
MIRT490633 hsa-miR-214-3p PAR-CLIP 23592263
MIRT490632 hsa-miR-3619-5p PAR-CLIP 23592263
MIRT490631 hsa-miR-761 PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity TAS 7777537
GO:0005055 Function Laminin receptor activity IMP 16236823
GO:0005515 Function Protein binding IPI 25416956, 25910212, 32296183
GO:0005576 Component Extracellular region HDA 27068509
GO:0005886 Component Plasma membrane TAS 9166867
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612773 6722 ENSG00000187244
Protein
UniProt ID P50895
Protein name Basal cell adhesion molecule (Auberger B antigen) (B-CAM cell surface glycoprotein) (F8/G253 antigen) (Lutheran antigen) (Lutheran blood group glycoprotein) (CD antigen CD239)
Protein function Transmembrane glycoprotein that functions as both a receptor and an adhesion molecule playing a crucial role in cell adhesion, motility, migration and invasion (PubMed:9616226, PubMed:31413112). Extracellular domain enables binding to extracellu
PDB 2PET , 2PF6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 36 144 Immunoglobulin V-set domain Domain
PF08205 C2-set_2 150 248 CD80-like C2-set immunoglobulin domain Domain
PF13927 Ig_3 271 341 Domain
PF13895 Ig_2 366 442 Immunoglobulin domain Domain
PF13895 Ig_2 453 537 Immunoglobulin domain Domain
Tissue specificity TISSUE SPECIFICITY: Wide tissue distribution (highest in the pancreas and very low in brain). Closely associated with the basal layer of cells in epithelia and the endothelium of blood vessel walls.
Sequence
Sequence length 628
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
29777097, 21460841, 30617256, 22832961
Unknown
Disease term Disease name Evidence References Source
Dementia Dementia GWAS
Diabetes Diabetes GWAS
Atrial Fibrillation Atrial Fibrillation GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37021520
Alzheimer Disease Associate 36982982
Anemia Sickle Cell Associate 14755370, 18322255, 20566895, 24616094, 24655501, 9873008
Anemia Sickle Cell Stimulate 26137540
Bronchopulmonary Dysplasia Associate 35595912
Carcinoma Basal Cell Stimulate 11121140
Carcinoma Renal Cell Associate 35941663
Carcinoma Squamous Cell Stimulate 11121140
Colorectal Neoplasms Associate 8781446
Immune System Diseases Associate 35941663