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    BCAM basal cell adhesion molecule (Lutheran blood group) [ Homo sapiens (human) ]

    Gene ID: 4059, updated on 3-Nov-2024

    Summary

    Official Symbol
    BCAMprovided by HGNC
    Official Full Name
    basal cell adhesion molecule (Lutheran blood group)provided by HGNC
    Primary source
    HGNC:HGNC:6722
    See related
    Ensembl:ENSG00000187244 MIM:612773; AllianceGenome:HGNC:6722
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AU; LU; B-CAM; CD239; MSK19; F8/G253
    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]
    Expression
    Broad expression in kidney (RPKM 99.8), prostate (RPKM 62.6) and 19 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See BCAM in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (44809059..44821421)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47633808..47646153)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45312316..45324678)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14772 Neighboring gene Cbl proto-oncogene C Neighboring gene MPRA-validated peak3507 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14773 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45315534-45316080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45316732-45317264 Neighboring gene Sharpr-MPRA regulatory region 5395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10741 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45351264-45352246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45353716-45354627 Neighboring gene nectin cell adhesion molecule 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45382143-45382992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45382993-45383842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45383843-45384692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45388007-45388506 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45388826-45389326 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45393067-45393568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14774 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10744 Neighboring gene translocase of outer mitochondrial membrane 40

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    BLOOD GROUP--LUTHERAN SYSTEM
    MedGen: C0024171 OMIM: 111200 GeneReviews: Not available
    not available
    LuLu phenotype
    MedGen: C1292230 OMIM: 247420 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    EBI GWAS Catalog
    Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    basal cell adhesion molecule
    Names
    Auberger b antigen
    B-CAM cell surface glycoprotein
    B-cell adhesion molecule
    F8/G253 antigen
    Lutheran blood group variant LUGA
    basal cell adhesion molecule (Lu and Au blood groups)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007480.1 RefSeqGene

      Range
      4979..17341
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_798

    mRNA and Protein(s)

    1. NM_001013257.2NP_001013275.1  basal cell adhesion molecule isoform 2 precursor

      See identical proteins and their annotated locations for NP_001013275.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an additional segment in its 3' coding region, which results in an early stop codon, compared to variant 1. The encoded isoform (2) is shorter at the C-terminus, compared to isoform 1. The full-length nature of this variant is supported by data in PMIDs 8781446 and 9192786.
      Source sequence(s)
      AC092306, BM985314, BP352029, X80026, X83425
      Consensus CDS
      CCDS42575.1
      UniProtKB/TrEMBL
      A0A087WXM8, A0A1A9C7B7
      Related
      ENSP00000481153.1, ENST00000611077.5
      Conserved Domains (5) summary
      smart00408
      Location:283341
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:280358
      IG_like; Immunoglobulin like
      pfam08205
      Location:151248
      C2-set_2; CD80-like C2-set immunoglobulin domain
      pfam13895
      Location:373444
      Ig_2; Immunoglobulin domain
      cl11960
      Location:466530
      Ig; Immunoglobulin domain
    2. NM_005581.5NP_005572.2  basal cell adhesion molecule isoform 1 precursor

      See identical proteins and their annotated locations for NP_005572.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
      Source sequence(s)
      BC050450, BM985314, BP352029
      Consensus CDS
      CCDS12644.1
      UniProtKB/Swiss-Prot
      A8MYF9, A9YWT5, A9YWT6, P50895, Q86VC7
      UniProtKB/TrEMBL
      A0A0A1TTQ0, G0TQY6, I7KDP0, I7L574
      Related
      ENSP00000270233.5, ENST00000270233.12
      Conserved Domains (5) summary
      smart00408
      Location:377427
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:280358
      IG_like; Immunoglobulin like
      pfam08205
      Location:151248
      C2-set_2; CD80-like C2-set immunoglobulin domain
      pfam13927
      Location:464526
      Ig_3; Immunoglobulin domain
      cl11960
      Location:37143
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      44809059..44821421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      47633808..47646153
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)