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

Homo sapiens

Also known as AU; LU; CD239; MSK19

Gene ID: 4059 | Gene type: protein coding

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

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

Recombinant BCAM Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7648	CAM Protein, Human (HEK293, His)	P50895 (E32-A547)	≥95%

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01393	BCAM Human Pre-designed siRNA Set A		/	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
Macaca fascicularis	BCAM	NCBI
Others	BCAM	NCBI