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Aliases for HEPACAM Gene

Aliases for HEPACAM Gene

  • Hepatic And Glial Cell Adhesion Molecule 2 3 5
  • Hepatocyte Cell Adhesion Molecule 2 3
  • Protein HepaCAM 3 4
  • Glial Cell Adhesion Molecule 2
  • GlialCAM 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 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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEPACAM Gene

Genomics for HEPACAM Gene

Regulatory Elements for HEPACAM Gene

Enhancers for HEPACAM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G125068 2 FANTOM5 Ensembl ENCODE dbSUPER 9.3 -136.0 -135980 8.2 HDGF PKNOX1 FOXA2 CREB3L1 MLX ARNT WRNIP1 ZFP64 ARID4B FOS SLC37A2 CCDC15 TMEM218 KRT18P59 ENSG00000255475 ROBO4 HEPACAM TBRG1 PIR45309 GC11M125054
GH11G124894 1.4 Ensembl ENCODE dbSUPER 10.4 +38.7 38675 8.2 ELF3 ATF1 FOXA2 ARID4B SIN3A ZNF2 RAD21 YY1 RARA EGR1 ROBO3 ROBO4 HEPACAM CCDC15 ENSG00000254943
GH11G124942 1.3 FANTOM5 ENCODE dbSUPER 10.6 -6.3 -6289 0.6 SOX13 FOXA2 SAP130 MLX ZFP64 CEBPG ZNF48 GATA4 GATA2 FOS HEPACAM ENSG00000254943 HEPN1 PKNOX2 GC11M124934
GH11G124919 1.2 Ensembl ENCODE dbSUPER 10.9 +15.6 15561 1.9 RNF2 L3MBTL2 SUZ12 TEAD4 RBBP5 RAD21 GABPA POLR2A KDM1A RBFOX2 HEPACAM HEPN1 PIR60526
GH11G125123 1.4 Ensembl ENCODE dbSUPER 9.3 -187.8 -187789 1.2 PKNOX1 CBX3 ZBTB40 RAD21 YY1 ZNF766 ZNF143 FOS CREM THAP11 PKNOX2 PKNOX2-AS1 SLC37A2 HEPACAM KRT18P59 ENSG00000255475
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HEPACAM on UCSC Golden Path with GeneCards custom track

Genomic Location for HEPACAM Gene

Chromosome:
11
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

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

  • N-glycosylated.
  • Glycosylation at isoforms=235, isoforms=2138, isoforms=2167, and isoforms=2189
  • Modification sites at PhosphoSitePlus

Other Protein References for HEPACAM Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for HEPACAM
  • Santa Cruz Biotechnology (SCBT) Antibodies for HEPACAM

No data available for DME Specific Peptides for HEPACAM Gene

Domains & Families for HEPACAM Gene

Suggested Antigen Peptide Sequences for HEPACAM Gene

GenScript: Design optimal peptide antigens:

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.
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

Clone Products

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 2
mitochondrion 1
peroxisome 1
cytosol 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 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

SuperPathways for HEPACAM Gene

No Data Available

Interacting Proteins for HEPACAM Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000298251%0d%0a9606.ENSP00000357025%0d%0a
Selected Interacting proteins: Q14CZ8-HECAM_HUMAN ENSP00000298251 for HEPACAM Gene via IID STRING

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

Unigene Clusters for HEPACAM Gene

Hepatic and glial cell adhesion molecule:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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, PaxDb, 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
Organs:
Head and neck:
  • brain
  • cerebellum
  • head
  • skull
General:
  • spinal cord
genes like me logo Genes that share expression patterns with HEPACAM: view

Primer Products

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 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia HEPACAM 34 35
  • 91.91 (n)
cow
(Bos Taurus)
Mammalia HEPACAM 34 35
  • 90.79 (n)
mouse
(Mus musculus)
Mammalia Hepacam 34 16 35
  • 89.5 (n)
rat
(Rattus norvegicus)
Mammalia RGD1306811 34
  • 86.44 (n)
oppossum
(Monodelphis domestica)
Mammalia HEPACAM 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEPACAM 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEPACAM 34 35
  • 74.21 (n)
lizard
(Anolis carolinensis)
Reptilia HEPACAM 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hepacam 34
  • 63.51 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100333891 34
  • 65.03 (n)
HEPACAM (2 of 2) 35
  • 60 (a)
OneToMany
hepacam 35
  • 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)

Paralogs for HEPACAM Gene

Paralogs 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
rs149782549 Uncertain significance, Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) [MIM:613926] 124,922,760(+) CAGGC(A/G)GTCAT intron-variant, reference, missense
rs387907049 Pathogenic, Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925] 124,923,851(-) CCTGT(A/C/T)CCCCG intron-variant, reference, missense
rs387907050 Pathogenic, Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925] 124,924,880(-) CCTGC(A/G)GCCTG intron-variant, reference, missense
rs387907051 Pathogenic, Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925] 124,923,807(-) TGGAG(A/G)ATGAC intron-variant, reference, missense
rs387907052 Pathogenic, Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) [MIM:613925] 124,924,863(-) GAGAC(C/T)GTATC intron-variant, reference, missense

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)

Relevant External Links 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

(6) MalaCards diseases for HEPACAM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, 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.

Relevant External Links for HEPACAM

Human Genome Epidemiology (HuGE) Navigator
HEPACAM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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) Moh M.C. … Shen S. (J. Hepatol. 2005) 2 3 4 22 64
  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 64
  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 64
  4. Overexpression of HepaCAM inhibits bladder cancer cell proliferation and viability through the AKT/FoxO pathway. (PMID: 28229220) Tang M. … Luo C. (J. Cancer Res. Clin. Oncol. 2017) 3 64
  5. 5-azacytidine inhibits the proliferation of bladder cancer cells via reversal of the aberrant hypermethylation of the hepaCAM gene. (PMID: 26677113) Wang X. … Luo C. (Oncol. Rep. 2016) 3 64

Products for HEPACAM Gene

Sources for HEPACAM Gene

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