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Aliases for HEPACAM Gene

Aliases for HEPACAM Gene

  • Hepatic And Glial Cell Adhesion Molecule 2 3
  • Hepatocyte Cell Adhesion Molecule 2 3
  • Protein HepaCAM 3 4
  • MLC2a 3 6
  • MLC2B 3 6
  • Glial Cell Adhesion Molecule 2
  • GlialCAM 3

External Ids for HEPACAM Gene

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 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 for HEPACAM Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEPACAM Gene

Genomics for HEPACAM Gene

Genomic Location for HEPACAM Gene

Start:
124,919,193 bp from pter
End:
124,936,412 bp from pter
Size:
17,220 bases
Orientation:
Minus strand

Genomic View for HEPACAM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HEPACAM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEPACAM Gene

Regulatory Elements 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

Proteomics data for HEPACAM Gene at MOPED

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 for HEPACAM Gene

Gene Families for HEPACAM Gene

HGNC:
  • VSET :Immunoglobulin superfamily / V-set domain containing
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing

Protein Domains for HEPACAM Gene

UniProtKB/Swiss-Prot:

HECAM_HUMAN
Domain:
  • The cytoplasmic domain plays an important role in regulation of cell-matrix adhesion and cell motility.:
    • Q14CZ8
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.:
    • Q14CZ8
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.:
    • Q14CZ8
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.

Gene Ontology (GO) - Molecular Function for HEPACAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with HEPACAM: view

Phenotypes for HEPACAM Gene

MGI mutant phenotypes for HEPACAM:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with HEPACAM: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for HEPACAM Gene COMPARTMENTS Subcellular localization image for HEPACAM gene
Compartment Confidence
extracellular 2
plasma membrane 2
cytosol 1
mitochondrion 1
peroxisome 1

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 --
GO:0016021 integral component of membrane IEA --
GO:0030424 axon IDA 21419380
genes like me logo Genes that share ontologies with HEPACAM: view

Pathways for HEPACAM Gene

SuperPathways for HEPACAM Gene

No Data Available

Interacting Proteins for HEPACAM Gene

Gene Ontology (GO) - Biological Process for HEPACAM Gene

GO ID Qualified GO term Evidence PubMed IDs
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 for HEPACAM Gene

Transcripts for HEPACAM Gene

Unigene Clusters for HEPACAM Gene

Hepatic and glial cell adhesion molecule:
Representative Sequences:

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 for HEPACAM Gene

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

This gene is overexpressed in Brain - Amygdala (6.0), Brain - Caudate (basal ganglia) (5.9), Brain - Nucleus accumbens (basal ganglia) (5.3), Brain - Putamen (basal ganglia) (4.7), Brain - Spinal cord (cervical c-1) (4.5), Brain - Hippocampus (4.2), and Brain - Cortex (4.2).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for HEPACAM Gene

SOURCE GeneReport for Unigene cluster for HEPACAM Gene Hs.745294

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

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 36
  • 99.44 (n)
  • 99.52 (a)
HEPACAM 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HEPACAM 36
  • 90.79 (n)
  • 95.43 (a)
HEPACAM 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HEPACAM 36
  • 91.91 (n)
  • 93.99 (a)
HEPACAM 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hepacam 36
  • 89.5 (n)
  • 94.71 (a)
Hepacam 16
Hepacam 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HEPACAM 37
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEPACAM 37
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306811 36
  • 86.44 (n)
  • 90.66 (a)
chicken
(Gallus gallus)
Aves HEPACAM 36
  • 74.21 (n)
  • 73.3 (a)
HEPACAM 37
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEPACAM 37
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hepacam 36
  • 63.51 (n)
  • 65.05 (a)
zebrafish
(Danio rerio)
Actinopterygii hepacam 37
  • 47 (a)
OneToMany
HEPACAM (2 of 2) 37
  • 60 (a)
OneToMany
LOC100333891 36
  • 65.03 (n)
  • 62.94 (a)
Species with no ortholog for HEPACAM:
  • 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)

Paralogs for HEPACAM Gene

Paralogs for HEPACAM Gene

Pseudogenes.org Pseudogenes for HEPACAM Gene

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

Variants for HEPACAM Gene

Sequence variations from dbSNP and Humsavar for HEPACAM Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs3924273 -- 124,927,538(+) ttttg(G/T)atttt intron-variant
rs3924274 -- 124,927,623(+) GTTGG(C/T)CTCCC intron-variant
rs3924535 -- 124,930,000(-) CCTTT(A/G)GTGTT intron-variant
rs4245059 -- 124,930,274(+) ACCCC(C/G)CTCCT intron-variant
rs4254088 -- 124,935,723(+) GGGGG(C/T)AGGGG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2745189 CNV Deletion 23290073

Relevant External Links for HEPACAM Gene

HapMap Linkage Disequilibrium report
HEPACAM
Human Gene Mutation Database (HGMD)
HEPACAM

Disorders for HEPACAM Gene

(2) OMIM Diseases for HEPACAM Gene (611642)

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.

Relevant External Links for HEPACAM

Human Genome Epidemiology (HuGE) Navigator
HEPACAM
genes like me logo Genes that share disorders with HEPACAM: view

Publications for HEPACAM Gene

  1. Cloning and characterization of hepaCAM, a novel Ig-like cell adhesion molecule suppressed in human hepatocellular carcinoma. (PMID: 15885354) Moh M.C. … Shen S. (J. Hepatol. 2005) 2 3 4 23
  2. Structural and functional analyses of a novel Ig-like cell adhesion molecule, hepaCAM, in the human breast carcinoma MCF7 cells. (PMID: 15917256) Moh M.C. … Shen S. (J. Biol. Chem. 2005) 2 3 4
  3. Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. (PMID: 21419380) Lopez-Hernandez T. … van der Knaap M.S. (Am. J. Hum. Genet. 2011) 3 4
  4. HepaCAM induces G1 phase arrest and promotes c-Myc degradation in human renal cell carcinoma. (PMID: 21618595) Zhang Q.L. … Shen S.L. (J. Cell. Biochem. 2011) 3
  5. Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. (PMID: 21624973) LA^pez-HernA!ndez T. … EstAcvez R. (Hum. Mol. Genet. 2011) 3

Products for HEPACAM Gene

Sources for HEPACAM Gene

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