BCAM - basal cell adhesion molecule (Lutheran blood group) Gene

Also Known as AU; LU; CD239; MSK19

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4059

About BCAM

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:44,809,059-44,821,421 (from NCBI)

This gene has 9 transcripts (splice variants), 176 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in kidney (RPKM 99.8), prostate (RPKM 62.6) and 19 other tissues.

Summary

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, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell Cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

BCAM Products (2)

mRNA	Protein	Name
NM_001013257.2	NP_001013275.1	basal cell adhesion molecule isoform 2 precursor
NM_005581.5	NP_005572.2	basal cell adhesion molecule isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables laminin binding	IMP IMP: Inferred from mutant phenotype	16236823	GOA
enables laminin receptor activity	IMP IMP: Inferred from mutant phenotype	16236823	GOA
enables protein binding	IDA IDA: Inferred from direct assay	24453976	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell-matrix adhesion	IMP IMP: Inferred from mutant phenotype	16236823	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BCAM Protein Structure

Ig_2

C2-set_2

Ig_2

Ig_3

0
100
200
300
400
500
628 a.a.

Protein Preferred Names	Protein Names
basal cell adhesion molecule	Auberger b antigen

BCAM Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BCAM	P50895	KRTAP1-3	Homo sapiens	Q8IUG1	Y2H Prey Pooling	32296183
Intra	BCAM	P50895	KRTAP1-3	Homo sapiens	Q8IUG1	Y2H Array	32296183
Intra	BCAM	P50895	KRTAP1-1	Homo sapiens	Q07627	Y2H Array	32296183
Intra	BCAM	P50895	KRTAP1-1	Homo sapiens	Q07627	Y2H Prey Pooling	32296183
Intra	BCAM	P50895	KRTAP1-1	Homo sapiens	Q07627	Validated Y2H	32296183
Intra	BCAM	P50895	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Prey Pooling	32296183
Intra	BCAM	P50895	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Array	32296183
Intra	BCAM	P50895	TRIM7	Homo sapiens	Q9C029	Validated Y2H	32296183
Intra	BCAM	P50895	TRIM7	Homo sapiens	Q9C029	Y2H Prey Pooling	32296183
Intra	BCAM	P50895	TRIM7	Homo sapiens	Q9C029	Y2H Array	32296183
Intra	BCAM	P50895	MDFI	Homo sapiens	Q99750	Y2H Array	32296183
Intra	BCAM	P50895	MDFI	Homo sapiens	Q99750	Y2H Prey Pooling	32296183
Intra	BCAM	P50895	MDFI	Homo sapiens	Q99750	Validated Y2H	32296183
Intra	BCAM	P50895	KLHL2	Homo sapiens	O95198	Validated Y2H	25910212
Intra	BCAM	P50895	KLHL2	Homo sapiens	O95198	Y2H Bait-Prey Pool	25910212
Intra	BCAM	P50895	KLHL2	Homo sapiens	O95198	Y2H Array	25910212
Intra	BCAM	P50895	KLHL2	Homo sapiens	O95198	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant BCAM Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7648	BCAM Protein, Human (HEK293, His)	P50895 (E32-A547)	≥ 95%, as determined by reducing SDS-PAGE.

BCAM Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82631	CD239 Antibody (YA2376)	WB, IHC-P, IP, FC	Human, Mouse, Rat
HY-P84368	CD239 Antibody (YA4065)	IHC-P, FC, ELISA	Human
HY-P84368A	CD239 Antibody (YA4065)(PBS only)	IHC-P, FC, ELISA	Human

Related Diseases

Diseases	Alias
Lutheran Null	Recessive Lu Phenotype
Sickle Cell Disease	Hbs Disease Hemoglobin S Disease Scd Sickle Cell Disorders Sickling Disorder Due To Hemoglobin S Anemia, Sickle Cell Hb-Ss Disease Without Crisis Hbss Without Crisis Sickle-Cell Anaemia Without Crisis Scd - [Sickle Cell Disease] Sca - [Sickle Cell Anaemia] Sickle Cell Disease Nos Sickle Cell Disorder Sickle Cell Syndrome Sickle-Cell Anaemia Nos Sickle-Cell Disorder Nos Haemoglobin S Disease Haemoglobin Ss Disease Hb S Disease Hb Ss Disease Herrick Anaemia Hereditary Haemoglobinopathy Disorder Homozygous For Haemoglobin S Sickle-Cell Haemoglobin Disease Sickling Disorder Due To Haemoglobin S Hb-Ss Disease With Crisis Sickle Cell Crisis Sickle-Cell Disorder With Crisis Sickle-Cell Anaemia With Crisis Hbss With Crisis Hb S Disease With Mention Of Crisis Haemoglobin Ss Disease With Crisis Hb-Ss Disease With Vaso-Occlusive Pain Vaso-Occlusive Crisis
Polycythemia Vera	PV Polycythemia Rubra Vera Prv Osler-Vaquez Disease Chronic Erythremia Polycythaemia Rubra Vera Primary Polycythemia Vaquez Disease Polycythemia Vera, Somatic Osler-Vaquez Syndrome Proliferative Polycythaemia Polycythemia Ruba Vera Acquired Primary Erythrocytosis Heilmeyer-Schoner Disease Vaquez Osler Disease Primary Polycythaemia
Anemia, Congenital Dyserythropoietic, Type Iv	CDAN4 Congenital Dyserythropoietic Anemia Type Iv Congenital Dyserythropoietic Anemia Type 4 Cda Iv Cda Due To Klf1 Mutation Cda Type 4 Cda Type Iv Congenital Dyserythropoietic Anemia Due To Klf1 Mutation Cda, Type Iv Dyserythropoietic Anemia, Congenital, Type Iv Congenital Dyserythropoietic Anaemia Due To Klf1 Mutation Congenital Dyserythropoietic Anaemia Type 4 Congenital Dyserythropoietic Anaemia Type Iv Anemia, Congenital Dyserythropoietic, 4 Anemia, Dyserythropoietic Congenital, Type Iv Anemia, Dyserythropoietic, Congenital, Type Iv
Basal Cell Carcinoma	Basal Cell Cancer Basal Cell Neoplasm Basal Cell Carcinoma Of Skin Malignant Basal Cell Tumor Basal Cell Tumor Epithelioma Basal Cell Malignant Basal Cell Neoplasm Rodent Ulcer Carcinoma Basal Cell Neoplasms, Basal Cell Basal Cell Carcinomas Experimental Organism Basal Cell Carcinoma Nodulo-Ulcerative Basal Cell Carcinoma Basalioma Basal Cell Epithelioma Of Skin Bcc - [Basal Cell Carcinoma] Of Skin Rodent Ulcer Of Skin Rodent Ulcer Of Unspecified Site Basal Cell Epithelioma Of Unspecified Site
Sickle Cell Anemia	Hemoglobin Sc Disease Anemia, Sickle Cell Hbsc Disease Sickle Cell-Hemoglobin C Disease Syndrome Hb Ss Disease Sickle Cell Trait Drepanocytosis Haemoglobin Sc Disease Hb Sc Disease Hb-S/Hb-C Disease Hb-Ss Disease Without Crisis Hemoglobin S Disease Without Crisis Sickle Cell Anaemia Sickle-Cell/Hb-C Disease Without Crisis Sickle Cell - Hemoglobin C Disease Hbs Disease Hemoglobin S Disease Sickling Disorder Due To Hemoglobin S SKCA Sickle Cell Disease Sickle Cell-Hemoglobin C Disease Sickle-Cell Disease Carrier Sickle-Cell Heterozygous Disorder Haemoglobin A-S Genotype Hb-S - [Sickle Cell Haemoglobin] Carrier Sickle Cell Haemoglobin Trait As - [Sickle Cell Trait] Hbas - [Sickle Cell Haemoglobin Trait] Sickle-Cell Trait Haemoglobin Disease Haemoglobin Sickle Cell Trait Disorder Heterozygous Sickle Cell Trait Hbas - [Heterozygous Haemoglobin S]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01393	BCAM Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01403	BCAT2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17632	Bcam Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24092	Bcam Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P992194	Anti-BCAM Antibody		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	BCAM	RGD	RGD:68378
Macaca mulatta	BCAM	VGNC	VGNC:108477
Canis familiaris	BCAM	VGNC	VGNC:49023
Mus musculus	BCAM	MGD	MGI:1929940
Bos taurus	BCAM	VGNC	VGNC:49138
Others	BCAM	NCBI