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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
External Ids for HEPACAM Gene
- HGNC: 26361
- Entrez Gene: 220296
- Ensembl: ENSG00000165478
- OMIM: 611642
- UniProtKB: Q14CZ8
Previous GeneCards Identifiers for HEPACAM Gene
- GC11M124295
- GC11M124789
- GC11M120731
Summaries 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 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
- HGNC(26361)
- Entrez Gene(220296)
- Ensembl(ENSG00000165478)
- OMIM(611642)
- UniProtKB(Q14CZ8)
- Open Targets Platform(ENSG00000165478)
- Monarch Initiative
- Search for HEPACAM at DataMed
- Search for HEPACAM at HumanCyc
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 Pubs
Promoters and enhancers for HEPACAM Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HEPACAM
- 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
- chr11:124,919,205-124,936,412
- (GRCh38/hg38)
- Size:
- 17,208 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:
-
- 11q24.2 by HGNC
- 11q24.2 by Entrez Gene
- 11q24.2 by Ensembl
HEPACAM Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for HEPACAM Gene
Post-translational modifications for HEPACAM Gene
- N-glycosylated.
-
Glycosylation at Asn35, Asn138, Asn167, and Asn189
- NX_Q14CZ8 (NX_Q14CZ8-1)
- Modification sites at PhosphoSitePlus
Other Protein References for HEPACAM Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ HEPACAM Antibody
-
Custom Antibody ServicesOriGene Antibodies for HEPACAM
- Novus Biologicals Antibodies for HEPACAM
-
Abcam antibodies for HEPACAM
- Invitrogen Antibodies for HEPACAM (AFLGC-HEPACAM)
-
Boster Bio Antibodies for HEPACAM
-
Santa Cruz Biotechnology (SCBT) Antibodies for HEPACAM
Protein Products
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- Sino Biological Recombinant Proteins for HEPACAM
- Sino Biological Cell Lysates for HEPACAM
- antibodies-online: Show 10 available HEPACAM Proteins ranked by validation data
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-
Quality Products:
-
Signalway Proteins for HEPACAM
-
ProSci Proteins for HEPACAM
-
Abcam proteins for HEPACAM
Assay Products
- RayBiotech Custom Human HepaCAM ELISA
- antibodies-online: Show 7 available HEPACAM Elisa Kits ranked by validation data
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-
Quality Products:
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
Protein Domains for HEPACAM Gene
- InterPro:
- Blocks:
-
- Immunoglobulin C-2 type
- Immunoglobulin V-set
- ProtoNet:
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
Q14CZ8UniProtKB/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.
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
Phenotypes for HEPACAM Gene
- MGI mutant phenotypes for HEPACAM:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for HEPACAM:
Animal Models for HEPACAM Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for HEPACAM
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HEPACAM - Select products 50% OFF >
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-
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-
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miRNA for HEPACAM Gene
- miRTarBase miRNAs that target HEPACAM
miRNA Products
Inhibitory RNA Products
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Clone Products
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- Sino Biological Human cDNA Clone for HEPACAM
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Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| peroxisome | 0 |
- Vesicles (2)
| 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 |
Pathways & Interactions for HEPACAM Gene
Interacting Proteins for HEPACAM Gene
GPS-Prot Interaction Network for HEPACAM
| 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for HEPACAM Gene
Transcripts for HEPACAM Gene
mRNA/cDNA for HEPACAM Gene
- 1 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000298251 3225 nts (view in UCSC)
- ENST00000526273 595 nts (view in UCSC)
- ENST00000528971 946 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HEPACAM - Select products 50% OFF >
- * HEPACAM CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for HEPACAM
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HEPACAM
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Clone Products
- Applied Biological Materials (abm): Clones for HEPACAM - Select products 50% OFF >
- * HEPACAM as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for HEPACAM
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HEPACAM
| 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
Expression for HEPACAM Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Protoplasmic Astrocyte Cells Neocortex
- Hypothalamus
- Thalamus
- Striatum
- Neural Tube (Nervous System)
- Heart (Cardiovascular System)
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Protoplasmic Astrocyte Cells Neocortex
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- NULL (Cardiovascular System)
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).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HEPACAM
SOURCE GeneReport for Unigene cluster for HEPACAM Gene:
Hs.745294Evidence on tissue expression from TISSUES for HEPACAM Gene
- Nervous system(4.7)
- Liver(4.4)
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
Primer Products
-
OriGene qPCR primer pairs for HEPACAM
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | HEPACAM 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | HEPACAM 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | HEPACAM 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Hepacam 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | RGD1306811 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | HEPACAM 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | HEPACAM 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | HEPACAM 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | HEPACAM 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hepacam 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100333891 30 |
|
||
| HEPACAM (2 of 2) 31 |
|
OneToMany | |||
| hepacam 31 |
|
OneToMany |
- Species where no ortholog for HEPACAM was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Paralogs for HEPACAM Gene
Variants for HEPACAM Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HEPACAM Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638399 | Uncertain Significance: Megalencephalic leukoencephalopathy with subcortical cysts 2a; Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation | 124,925,027(-) | A/T | MISSENSE_VARIANT | |
| 716325 | Likely Benign: not provided | 124,921,225(-) | C/T | SYNONYMOUS_VARIANT | |
| 733226 | Benign: not provided | 124,922,737(-) | G/A | INTRON_VARIANT | |
| 733946 | Conflicting Interpretations: Megalencephalic leukoencephalopathy with subcortical cysts; not provided | 124,924,018(-) | G/A | INTRON_VARIANT | |
| 737623 | Conflicting Interpretations: Megalencephalic leukoencephalopathy with subcortical cysts; not provided | 124,923,802(-) | G/A | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2745189 | CNV | deletion | 23290073 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEPACAM Gene
Disorders for HEPACAM Gene
(14) MalaCards diseases for HEPACAM Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| megalencephalic leukoencephalopathy with subcortical cysts 2a |
|
|
| megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation |
|
|
| megalencephalic leukoencephalopathy with subcortical cysts 1 |
|
|
| macrocephaly/autism syndrome |
|
|
| leukodystrophy |
|
|
Search HEPACAM in MalaCards
View complete list of genes associated with diseases
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
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for HEPACAM Gene
Publications for HEPACAM Gene
- 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
- 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
- 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
- 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
- Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models. (PMID: 31372844) Shi Z … Wang JM (World journal of pediatrics : WJP 2019) 3
ExternalLinks
Products for HEPACAM Gene
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- Humanized Mice
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- antibodies-online: Show 26 available HEPACAM Antibodies ranked by validation data
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- antibodies-online: Show 10 available HEPACAM Proteins ranked by validation data
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- Signalway Proteins for HEPACAM
Sources for HEPACAM Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
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