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 R... See more...

Aliases for HEPACAM Gene

Aliases for HEPACAM Gene

  • Hepatic And Glial Cell Adhesion Molecule 2 3 5
  • Hepatocyte Cell Adhesion Molecule 2 3 4
  • Protein HepaCAM 3 4
  • Putative Cancer Susceptibility Gene HEPN1 Protein 3
  • Glial Cell Adhesion Molecule 2
  • GlialCAM 3
  • HEPN1 3
  • MLC2A 3
  • MLC2B 3

External Ids for HEPACAM Gene

Previous GeneCards Identifiers for HEPACAM Gene

  • GC11M124295
  • GC11M124789
  • GC11M120731

Summaries for HEPACAM Gene

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 2B, Remitting, With Or Without Mental Retardation and Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A. An important paralog of this gene is HEPACAM2.

UniProtKB/Swiss-Prot Summary for HEPACAM Gene

  • Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation.

Additional gene information for HEPACAM Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HEPACAM Gene

Genomics for HEPACAM Gene

GeneHancer (GH) Regulatory Elements for HEPACAM Gene

Promoters and enhancers for HEPACAM Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J124934 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 759.3 +1.3 1342 2.1 FOXA1 NR2F6 ATF1 MIXL1 ELF3 SP1 CEBPG PPARG KAT8 HMG20B HEPACAM piR-37481 ROBO3
GH11J124936 Promoter/Enhancer 0.9 EPDnew dbSUPER 750.6 +0.0 47 0.1 SP1 ZNF205 SAP130 DRAP1 ZSCAN9 POLR2A SMAD4 ZNF48 HNF4A HEPACAM piR-37481
GH11J124937 Enhancer 0.3 Ensembl dbSUPER 750.6 -0.6 -589 0.4 HEPACAM HSALNG0087928
GH11J124942 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 15.6 -7.1 -7079 2.2 MLX RBPJ HLF SP5 RXRB RCOR2 SOX13 TCF7 ZBTB26 ZKSCAN8 HSALNG0087928 HEPACAM ENSG00000254943 ROBO3 HEPN1 PKNOX2 piR-56883-041
GH11J124894 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 +38.7 38674 8.2 RBPJ NR2F6 MIXL1 ELF3 TFE3 CTCF PPARG SP5 KAT8 HMG20B ROBO4 lnc-HEPACAM-1 ROBO3 HEPACAM CCDC15 lnc-ROBO4-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HEPACAM on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HEPACAM gene promoter:
  • C/EBPbeta
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • Lhx3a
  • LHX3b
  • RORalpha2

Genomic Locations for HEPACAM Gene

Genomic Locations for HEPACAM Gene
chr11:124,919,193-124,936,412
(GRCh38/hg38)
Size:
17,220 bases
Orientation:
Minus strand
chr11:124,789,089-124,806,308
(GRCh37/hg19)
Size:
17,220 bases
Orientation:
Minus strand

Genomic View for HEPACAM Gene

Genes around HEPACAM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEPACAM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEPACAM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEPACAM Gene

Proteins for HEPACAM Gene

  • Protein details for HEPACAM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14CZ8-HECAM_HUMAN
    Recommended name:
    Hepatocyte cell adhesion molecule
    Protein Accession:
    Q14CZ8
    Secondary Accessions:
    • Q67IP8
    • Q6ZWL4
    • Q8N7I3
    • Q8ND35

    Protein attributes for HEPACAM Gene

    Size:
    416 amino acids
    Molecular mass:
    46026 Da
    Quaternary structure:
    • Homodimer. Dimer formation occurs predominantly through cis interactions on the cell surface. Part of a complex containing MLC1, TRPV4, AQP4 and ATP1B1.

    Alternative splice isoforms for HEPACAM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HEPACAM Gene

Post-translational modifications for HEPACAM Gene

Other Protein References for HEPACAM Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HEPACAM Gene

Domains & Families for HEPACAM Gene

Gene Families for HEPACAM Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for HEPACAM Gene

GenScript: Design optimal peptide antigens:
  • Hepatocyte cell adhesion molecule (HECAM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14CZ8

UniProtKB/Swiss-Prot:

HECAM_HUMAN :
  • The cytoplasmic domain plays an important role in regulation of cell-matrix adhesion and cell motility.
Domain:
  • The cytoplasmic domain plays an important role in regulation of cell-matrix adhesion and cell motility.
genes like me logo Genes that share domains with HEPACAM: view

Function for HEPACAM Gene

Molecular function for HEPACAM Gene

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

Phenotypes From GWAS Catalog for HEPACAM Gene

genes like me logo Genes that share phenotypes with HEPACAM: view

Human Phenotype Ontology for HEPACAM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HEPACAM Gene

MGI Knock Outs for HEPACAM:

Animal Model Products

  • Taconic Biosciences Mouse Models for HEPACAM

CRISPR Products

miRNA for HEPACAM Gene

miRTarBase miRNAs that target HEPACAM

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HEPACAM

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for HEPACAM Gene

Localization for HEPACAM Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEPACAM Gene

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HEPACAM gene
Compartment Confidence
plasma membrane 2
extracellular 1
mitochondrion 0
peroxisome 0
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HEPACAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005911 cell-cell junction IDA 21419380
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030424 axon IDA 21419380
genes like me logo Genes that share ontologies with HEPACAM: view

Pathways & Interactions for HEPACAM Gene

PathCards logo

SuperPathways for HEPACAM Gene

No Data Available

Interacting Proteins for HEPACAM Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000298251 Q14CZ8-HECAM_HUMAN for HEPACAM Gene via STRING IID

Gene Ontology (GO) - Biological Process for HEPACAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007050 cell cycle arrest IEA --
GO:0007155 cell adhesion IEA --
GO:0034613 cellular protein localization IEA --
GO:0040008 regulation of growth IEA --
genes like me logo Genes that share ontologies with HEPACAM: view

No data available for Pathways by source and SIGNOR curated interactions for HEPACAM Gene

Drugs & Compounds for HEPACAM Gene

No Compound Related Data Available

Transcripts for HEPACAM Gene

mRNA/cDNA for HEPACAM Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(50) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HEPACAM

Alternative Splicing Database (ASD) splice patterns (SP) for HEPACAM Gene

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

Relevant External Links for HEPACAM Gene

GeneLoc Exon Structure for
HEPACAM
ECgene alternative splicing isoforms for
HEPACAM

Expression for HEPACAM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HEPACAM Gene

mRNA differential expression in normal tissues according to GTEx for HEPACAM Gene

This gene is overexpressed in Brain - Amygdala (x6.0), Brain - Caudate (basal ganglia) (x5.9), Brain - Nucleus accumbens (basal ganglia) (x5.3), Brain - Putamen (basal ganglia) (x4.7), Brain - Spinal cord (cervical c-1) (x4.5), Brain - Hippocampus (x4.2), and Brain - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for HEPACAM Gene

This gene is overexpressed in Spinal cord (27.6), Brain (20.6), and Frontal cortex (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HEPACAM Gene



Protein tissue co-expression partners for HEPACAM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HEPACAM Gene:

HEPACAM

SOURCE GeneReport for Unigene cluster for HEPACAM Gene:

Hs.745294

Evidence on tissue expression from TISSUES for HEPACAM Gene

  • Nervous system(4.7)
  • Liver(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HEPACAM Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
  • skull
General:
  • spinal cord
genes like me logo Genes that share expression patterns with HEPACAM: view

No data available for mRNA Expression by UniProt/SwissProt for HEPACAM Gene

Orthologs for HEPACAM Gene

This gene was present in the common ancestor of chordates.

Orthologs for HEPACAM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEPACAM 33 32
  • 99.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HEPACAM 33 32
  • 91.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HEPACAM 33 32
  • 90.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hepacam 17 33 32
  • 89.5 (n)
rat
(Rattus norvegicus)
Mammalia RGD1306811 32
  • 86.44 (n)
oppossum
(Monodelphis domestica)
Mammalia HEPACAM 33
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEPACAM 33
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEPACAM 33 32
  • 74.21 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEPACAM 33
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hepacam 32
  • 63.51 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100333891 32
  • 65.03 (n)
HEPACAM (2 of 2) 33
  • 60 (a)
OneToMany
hepacam 33
  • 47 (a)
OneToMany
Species where no ortholog for HEPACAM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HEPACAM Gene

ENSEMBL:
Gene Tree for HEPACAM (if available)
TreeFam:
Gene Tree for HEPACAM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HEPACAM: view image

Paralogs for HEPACAM Gene

Variants for HEPACAM Gene

Sequence variations from dbSNP and Humsavar for HEPACAM Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs10790715 benign, not specified, Megalencephalic leukoencephalopathy with subcortical cysts, - 124,923,786(-) T/C coding_sequence_variant, missense_variant
rs10790716 benign, not specified, Megalencephalic leukoencephalopathy with subcortical cysts 124,923,820(-) G/A/C coding_sequence_variant, synonymous_variant
rs10893303 benign, uncertain-significance, Megalencephalic leukoencephalopathy with subcortical cysts 124,921,026(-) C/A/G/T 3_prime_UTR_variant
rs112607377 uncertain-significance, Megalencephalic leukoencephalopathy with subcortical cysts 124,919,286(-) G/C 3_prime_UTR_variant
rs112686308 benign, likely-benign, not specified, Megalencephalic leukoencephalopathy with subcortical cysts 124,924,792(-) C/T coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for HEPACAM Gene

Variant ID Type Subtype PubMed ID
esv2745189 CNV deletion 23290073

Variation tolerance for HEPACAM Gene

Residual Variation Intolerance Score: 43.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.31; 62.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HEPACAM Gene

Human Gene Mutation Database (HGMD)
HEPACAM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEPACAM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEPACAM Gene

Disorders for HEPACAM Gene

MalaCards: The human disease database

(7) MalaCards diseases for HEPACAM Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

HECAM_HUMAN
  • 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. {ECO:0000269 PubMed:21419380}. 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. {ECO:0000269 PubMed:21419380}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HEPACAM

genes like me logo Genes that share disorders with HEPACAM: view

No data available for Genatlas for HEPACAM Gene

Publications for HEPACAM Gene

  1. Cloning and characterization of hepaCAM, a novel Ig-like cell adhesion molecule suppressed in human hepatocellular carcinoma. (PMID: 15885354) Chung Moh M … Shen S (Journal of hepatology 2005) 2 3 4 23 56
  2. Structural and functional analyses of a novel ig-like cell adhesion molecule, hepaCAM, in the human breast carcinoma MCF7 cells. (PMID: 15917256) Moh MC … Shen S (The Journal of biological chemistry 2005) 2 3 4 56
  3. Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. (PMID: 21419380) López-Hernández T … van der Knaap MS (American journal of human genetics 2011) 3 4 56
  4. HepaCAM inhibits cell proliferation and invasion in prostate cancer by suppressing nuclear translocation of the androgen receptor via its cytoplasmic domain. (PMID: 30664187) Deng Q … Wu X (Molecular medicine reports 2019) 3 56
  5. HepaCAM inhibits the malignant behavior of castration-resistant prostate cancer cells by downregulating Notch signaling and PF-3084014 (a γ-secretase inhibitor) partly reverses the resistance of refractory prostate cancer to docetaxel and enzalutamide in vitro. (PMID: 29658567) Du Z … Wu X (International journal of oncology 2018) 3 56

Products for HEPACAM Gene

Sources for HEPACAM Gene