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HEPACAM Gene

protein-coding   GIFtS: 49
GCID: GC11M124789

Hepatic And Glial Cell Adhesion Molecule

(Previous name: hepatocyte cell adhesion molecule)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hepatic And Glial Cell Adhesion Molecule1 2     MLC2B2 5
Hepatocyte Cell Adhesion Molecule1 2     Glial Cell Adhesion Molecule1
Protein HepaCAM2 3     GlialCAM2
MLC2A2 5     

External Ids:    HGNC: 263611   Entrez Gene: 2202962   Ensembl: ENSG000001654787   OMIM: 6116425   UniProtKB: Q14CZ83   

Export aliases for HEPACAM gene to outside databases

Previous GC identifers: GC11M124295 GC11M120731


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HEPACAM Gene:
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)

GeneCards Summary for HEPACAM Gene:
HEPACAM (hepatic and glial cell adhesion molecule) is a protein-coding gene. Diseases associated with HEPACAM include megalencephalic leukoencephalopathy with subcortical cysts 2a, and megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation. An important paralog of this gene is HEPACAM2.

UniProtKB/Swiss-Prot: HECAM_HUMAN, Q14CZ8
Function: Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through
suppression of cell proliferation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the HEPACAM gene promoter:
         COUP-TF1   LHX3b/Lhx3b   C/EBPbeta   COUP   HNF-4alpha2   HNF-4alpha1   RORalpha2   COUP-TF   LHX3a/Lhx3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHEPACAM promoter sequence
   Search Chromatin IP Primers for HEPACAM

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HEPACAM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q24.2   Ensembl cytogenetic band:  11q24.2   HGNC cytogenetic band: 11q24.2

HEPACAM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HEPACAM gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M124789:  view genomic region     (about GC identifiers)

Start:
124,789,089 bp from pter      End:
124,806,308 bp from pter
Size:
17,220 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HECAM_HUMAN, Q14CZ8 (See protein sequence)
Recommended Name: Hepatocyte cell adhesion molecule precursor  
Size: 416 amino acids; 46026 Da
Subunit: Homodimer. Dimer formation occurs predominantly through cis interactions on the cell surface. Part of a
complex containing MLC1, TRPV4, AQP4 and ATP1B1
Secondary accessions: Q67IP8 Q6ZWL4 Q8N7I3 Q8ND35
Alternative splicing: 2 isoforms:  Q14CZ8-1   Q14CZ8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HEPACAM: NX_Q14CZ8

Explore proteomics data for HEPACAM at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Glycosylation2 at Asn35, Asn138, Asn167, Asn189
  • Modification sites at PhosphoSitePlus

  • See HEPACAM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689935.2  
    ENSEMBL proteins: 
     ENSP00000298251  

    HEPACAM Human Recombinant Protein Products:

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    HEPACAM Antibody Products:

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    Abcam antibodies for HEPACAM
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    LSBio Antibodies in human, mouse, rat for HEPACAM

    HEPACAM Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for HEPACAM
    Cloud-Clone Corp. CLIAs for HEPACAM


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing
    VSET: Immunoglobulin superfamily / V-set domain containing

    5 InterPro protein domains:
     IPR003598 Ig_sub2
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry Q14CZ8

    ProtoNet protein and cluster: Q14CZ8

    2 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: HECAM_HUMAN, Q14CZ8
    Domain: The cytoplasmic domain plays an important role in regulation of cell-matrix adhesion and cell motility
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain


    HEPACAM for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HECAM_HUMAN, Q14CZ8
    Function: Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through
    suppression of cell proliferation
    Induction: Down-regulated in 20 out of 23 of hepatocellular carcinoma (HCC) samples and is undetectable in 5 HCC
    cell lines tested

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    HEPACAM for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Hepacam):
     no phenotypic analysis 

    HEPACAM for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HEPACAM
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HEPACAM

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HEPACAM
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HEPACAM

    miRNA
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    Block miRNA regulation of human, mouse, rat HEPACAM using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HEPACAM (see all 22):
    hsa-miR-3910 hsa-miR-520d-5p hsa-miR-29a hsa-miR-29c hsa-miR-219-5p hsa-miR-488 hsa-miR-508-3p hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidHEPACAM 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HEPACAM
    Predesigned siRNA for gene silencing in human, mouse, rat HEPACAM

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for HEPACAM

    Clone
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    OriGene clones in human, mouse for HEPACAM (see all 5)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HEPACAM (NM_152722)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEPACAM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEPACAM

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEPACAM


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HECAM_HUMAN, Q14CZ8: Cytoplasm. Membrane; Single-pass type I membrane protein; Cytoplasmic side. Note=In MCF-7
    breast carcinoma and hepatic Hep 3B2.1-7 and Hep-G2 cell lines, localization of HEPACAM is cell
    density-dependent. In well spread cells, localized to punctate structures in the perinuclear membrane, cytoplasm,
    and at cell surface of protusions. In confluent cells, localized predominantly to the cytoplasmic membrane,
    particularly in areas of cell-cell contacts. Colocalizes with CDH1
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular2
    plasma membrane2
    cytosol1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005911cell-cell junction IDA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0030424axon IDA--

    HEPACAM for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HEPACAM
    Interactions:

        GeneGlobe Interaction Network for HEPACAM

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for HEPACAM (ENSP000002982514) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYD88ENSP000003796254STRING: ENSP00000379625
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007050cell cycle arrest IEA--
    GO:0007155cell adhesion IEA--
    GO:0034613cellular protein localization IEA--
    GO:0040008regulation of growth IEA--

    HEPACAM for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HEPACAM (HECAM)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HEPACAM gene: 
    NM_152722.4  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298251(uc009zbj.3 uc001qbk.3 uc001qbl.1) ENST00000526273
    ENST00000528971
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HEPACAM using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HEPACAM (see all 22):
    hsa-miR-3910 hsa-miR-520d-5p hsa-miR-29a hsa-miR-29c hsa-miR-219-5p hsa-miR-488 hsa-miR-508-3p hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidHEPACAM 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HEPACAM
    Predesigned siRNA for gene silencing in human, mouse, rat HEPACAM
    Clone
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    OriGene clones in human, mouse for HEPACAM (see all 5)
    OriGene ORF clones in mouse, rat for HEPACAM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HEPACAM (NM_152722)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HEPACAM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEPACAM
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for HEPACAM
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HEPACAM
      QuantiTect SYBR Green Assays in human, mouse, rat HEPACAM
      QuantiFast Probe-based Assays in human, mouse, rat HEPACAM

    Selected AceView cDNA sequences (see all 50):

    AI885128 AI423519 NM_152722 AL834419 CB164379 R88547 BF513961 BF526530 
    BF346367 BX452118 BF340552 CF455670 BF948670 BG709061 BM704809 AY275431 
    BM693937 BU730368 AI560968 CD637974 AI932270 BC037810 F27109 AK122595 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for HEPACAM    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b
    SP1:                    -           -                       -                     
    SP2:                    -           -                                             
    SP3:                                                        -                     
    SP4:                    -                                                         
    SP5:                                                                              


    ECgene alternative splicing isoforms for HEPACAM

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HEPACAM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCATACCCTG
    HEPACAM Expression
    About this image


    HEPACAM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Cerebral Cortex
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Cardiomyocyte progenitor cells
             Cardiomyocyte-like cells
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     NULL (Cardiovascular System)    fully expand to see all 2 entries
             Cardiovascular progenitor cells
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    HEPACAM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HEPACAM Protein Expression
        Custom PCR Arrays for HEPACAM
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HEPACAM
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    QuantiFast Probe-based Assays in human, mouse, rat HEPACAM
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEPACAM

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HEPACAM gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hepacam1 , 5 hepatocyte cell adhesion molecule1, 5 89.5(n)1
    94.71(a)1
      9 (20.76 cM)5
    729271  NM_175189.41  NP_780398.21 
     373673685 
    chicken
    (Gallus gallus)
    Aves HEPACAM1 hepatic and glial cell adhesion molecule 74.21(n)
    73.3(a)
      428234  XM_425793.4  XP_425793.4 
    lizard
    (Anolis carolinensis)
    Reptilia HEPACAM6
    hepatic and glial cell adhesion molecule
    71(a)
    1 ↔ 1
    GL343367.1(548121-576545)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hepacam1 hepatic and glial cell adhesion molecule 63.51(n)
    65.05(a)
      100493229  XM_002937519.2  XP_002937565.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003338911 hepatocyte cell adhesion molecule-like 65.03(n)
    62.94(a)
      100333891  XM_002666373.3  XP_002666419.2 


    ENSEMBL Gene Tree for HEPACAM (if available)
    TreeFam Gene Tree for HEPACAM (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HEPACAM gene
    HEPACAM22  

    HEPACAM for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HEPACAM
    PGOHUM00000250392


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HEPACAM (see all 414)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0658584
    Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A)4--see VAR_0658582 S Y mis40--------
    VAR_0658534
    Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B)4--see VAR_0658532 R W mis40--------
    VAR_0658494
    Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A)4--see VAR_0658492 L H mis40--------
    VAR_0658604
    Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B)4--see VAR_0658602 R C mis40--------
    VAR_0658574
    Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A)4--see VAR_0658572 P S mis40--------
    VAR_0658544
    Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A)4--see VAR_0658542 R C mis40--------
    VAR_0658504
    Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B)4--see VAR_0658502 G D mis40--------
    VAR_0658594
    Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A)4--see VAR_0658592 D N mis40--------
    VAR_0658524
    Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A)4--see VAR_0658522 R Q mis40--------
    VAR_0658554
    Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B)4--see VAR_0658552 D N mis40--------

    HapMap Linkage Disequilibrium report for HEPACAM (124789089 - 124806308 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HEPACAM:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745189CNV Deletion23290073

    Human Gene Mutation Database (HGMD): HEPACAM
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HEPACAM
    DNA2.0 Custom Variant and Variant Library Synthesis for HEPACAM

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611642   
    OMIM disorders: 613925  613926  
    UniProtKB/Swiss-Prot: HECAM_HUMAN, Q14CZ8
  • Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925]: A
    neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration,
    with ataxia and spasticity, seizures, and cognitive decline of variable severity. The brain appears swollen on
    magnetic resonance imaging with white-matter abnormalities and subcortical cysts, in all stages of the disease.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) [MIM:613926]: A
    neurodegenerative disorder characterized by infantile-onset of macrocephaly and mildly delayed motor development
    associated with white-matter abnormalities on brain magnetic resonance imaging. The phenotype is milder that
    MLC2A, with better preserved cerebellar white matter and no subcortical cysts outside the temporal region. On
    follow-up, patients show normal or almost normal motor function. Some patients have normal intelligence, whereas
    others have a significant cognitive deficiency. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 16 diseases for HEPACAM:    
    About MalaCards
    megalencephalic leukoencephalopathy with subcortical cysts 2a    megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation    hepacam-related megalencephalic leukoencephalopathy with subcortical cysts    megalencephalic leukoencephalopathy with subcortical cysts
    bladder transitional cell carcinoma    transitional cell carcinoma    leukodystrophy    hepatitis
    spasticity    renal cell carcinoma    hepatitis b    ataxia
    hepatocellular carcinoma    multiple myeloma    myeloma    breast cancer


    HEPACAM for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: HEPACAM (1 document)

    Export disorders for HEPACAM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HEPACAM gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with HEPACAM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of hepaCAM, a novel Ig-like cell adhesion molecule suppressed in human hepatocellular carcinoma. (PubMed id 15885354)1, 2, 3, 9 Moh M.C.... Shen S. (J. Hepatol. 2005)
    2. Structural and functional analyses of a novel Ig-like cell adhesion molecule, hepaCAM, in the human breast carcinoma MCF7 cells. (PubMed id 15917256)1, 2, 3 Moh M.C.... Shen S. (J. Biol. Chem. 2005)
    3. Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. (PubMed id 21419380)1, 2 Lopez-Hernandez T.... van der Knaap M.S. (Am. J. Hum. Genet. 2011)
    4. Exploration of the correlations between interferon-I^ in patient serum and HEPACAM in bladder transitional cell carcinoma, and the interferon-I^ mechanism inhibiting BIU-87 proliferation. (PubMed id 22906662)1 Xu B....Zhang J. (J. Urol. 2012)
    5. Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations. (PubMed id 22328087)2 Lanciotti A....Ambrosini E. (Hum. Mol. Genet. 2012)
    6. HepaCAM induces G1 phase arrest and promotes c-Myc degradation in human renal cell carcinoma. (PubMed id 21618595)1 Zhang Q.L....Shen S.L. (J. Cell. Biochem. 2011)
    7. Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. (PubMed id 21624973)1 LA^pez-HernA!ndez T....EstAcvez R. (Hum. Mol. Genet. 2011)
    8. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (Genes Immun. 2010)
    9. Functional significance of the hepaCAM gene in bladder cancer. (PubMed id 20205955)1 He Y....Lin J. (BMC Cancer 2010)
    10. Exon 2 methylation inhibits hepaCAM expression in transitional cell carcinoma of the bladder. (PubMed id 20628239)1 Pan C....Shen S. (Urol. Int. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 220296 HGNC: 26361 AceView: FLJ25530 Ensembl:ENSG00000165478 euGenes: HUgn220296
    ECgene: HEPACAM H-InvDB: HEPACAM

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HEPACAM Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HEPACAM gene:
    Search GeneIP for patents involving HEPACAM

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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