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    HEPACAM hepatic and glial cell adhesion molecule [ Homo sapiens (human) ]

    Gene ID: 220296, updated on 3-May-2024

    Summary

    Official Symbol
    HEPACAMprovided by HGNC
    Official Full Name
    hepatic and glial cell adhesion moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:26361
    See related
    Ensembl:ENSG00000165478 MIM:611642; AllianceGenome:HGNC:26361
    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
    HEPN1; MLC2A; MLC2B; GlialCAM
    Summary
    The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]
    Expression
    Biased expression in brain (RPKM 47.9), fat (RPKM 15.6) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HEPACAM in Genome Data Viewer
    Location:
    11q24.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (124919205..124936047, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (124947841..124964684, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (124789101..124805943, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124735644-124736320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:124738370-124738900 Neighboring gene Sharpr-MPRA regulatory region 2144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4035 Neighboring gene Sharpr-MPRA regulatory region 10426 Neighboring gene roundabout guidance receptor 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124756054-124756568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124756569-124757082 Neighboring gene uncharacterized LOC107984406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124767654-124768276 Neighboring gene roundabout guidance receptor 4 Neighboring gene hepatocellular carcinoma, down-regulated 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:124823758-124824301 Neighboring gene CCDC15 divergent transcript Neighboring gene coiled-coil domain containing 15 Neighboring gene MPRA-validated peak1499 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124853252-124854004

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ25530

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in astrocyte end-foot IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    hepatic and glial cell adhesion molecule
    Names
    Putative cancer susceptibility gene HEPN1 protein
    hepatocyte cell adhesion molecule
    protein hepaCAM

    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_029603.1 RefSeqGene

      Range
      5366..22208
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001411043.1NP_001397972.1  hepatic and glial cell adhesion molecule isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AP003501
      Consensus CDS
      CCDS91616.1
      UniProtKB/TrEMBL
      A0A994J4I1
      Related
      ENSP00000515485.1, ENST00000703807.1
    2. NM_152722.5NP_689935.2  hepatic and glial cell adhesion molecule isoform 1 precursor

      See identical proteins and their annotated locations for NP_689935.2

      Status: REVIEWED

      Source sequence(s)
      AP003501, AY047587, BC037810, BC113562, DA239226
      Consensus CDS
      CCDS8456.1
      UniProtKB/Swiss-Prot
      Q14CZ8, Q67IP8, Q6ZWL4, Q8N7I3, Q8ND35
      Related
      ENSP00000298251.4, ENST00000298251.5
      Conserved Domains (3) summary
      smart00410
      Location:154235
      IG_like; Immunoglobulin like
      pfam07686
      Location:41141
      V-set; Immunoglobulin V-set domain
      pfam13895
      Location:150235
      Ig_2; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      124919205..124936047 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271449.3XP_005271506.1  hepatic and glial cell adhesion molecule isoform X1

      See identical proteins and their annotated locations for XP_005271506.1

      Conserved Domains (3) summary
      smart00410
      Location:154235
      IG_like; Immunoglobulin like
      pfam07686
      Location:41141
      V-set; Immunoglobulin V-set domain
      pfam13895
      Location:150235
      Ig_2; Immunoglobulin domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      124947841..124964684 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368035.1XP_054224010.1  hepatic and glial cell adhesion molecule isoform X1