HEPACAM - hepatic and glial cell adhesion molecule Gene

Homo sapiens

Also known as HEPN1; MLC2A; MLC2B; GlialCAM

Gene ID: 220296 | Gene type: protein coding

About HEPACAM

Cytogenetic location: 11q24.2 Genomic coordinates (GRCh38): 11:124,919,205-124,936,047 (from NCBI)

This gene has 4 transcripts (splice variants), 266 orthologues, 24 paralogues and is associated with 5 phenotypes. Biased expression in brain (RPKM 47.9), fat (RPKM 15.6) and 1 other tissue.

Summary

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]

HEPACAM Products(2)

mRNA	Protein	Name
NM_001411043.1	NP_001397972.1	hepatocyte cell adhesion molecule isoform 2 precursor
NM_152722.5	NP_689935.2	hepatocyte cell adhesion molecule isoform 1 precursor

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein localization to cell-cell junction	IMP IMP: Inferred from mutant phenotype	21419380	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in astrocyte end-foot	IDA IDA: Inferred from direct assay	22405205	GOA
located in cell-cell junction	IDA IDA: Inferred from direct assay	21419380	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HEPACAM Protein Structure

V-set

Ig_2

0
100
200
300
416 a.a.

Protein Preferred Names

Protein Names

hepatocyte cell adhesion molecule

Putative cancer susceptibility gene HEPN1 protein

Recombinant HEPACAM Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70838	HEPACAM Protein, Human (HEK293, His)	Q14CZ8-1/NP_689935.2 (V34-S240)	≥95%

Related Diseases

Diseases

Alias

Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a

MLC2A	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 2a
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 2a

Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b, Remitting, With Or Without Impaired Intellectual Development

MLC2B

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 2b

Megalencephalic Leukoencephalopathy With Subcortical Cysts

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts	Mlc
Van Der Knaap Disease	Lvm
Leukoencephalopathy With Swelling And Cysts	Megalencephaly-Cystic Leukodystrophy
Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome	Infantile Leukoencephalopathy And Megalencephaly
Leukoencephalopathy With Swelling And A Discrepantly Mild Course	Vacuolating Leukoencephalopathy
Megalencephalic Leukodystrophy	Megalencephaly-Cystic Leukodystrophy Syndrome
Van Der Knaap Syndrome	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts

Macrocephaly/Autism Syndrome

Macrocephaly-Autism Syndrome	Macrocephaly-Intellectual Disability-Autism Syndrome
MCEPHAS

Megalencephalic Leukoencephalopathy With Subcortical Cysts 1

Van Der Knaap Disease	Leukoencephalopathy With Swelling And Cysts
MLC1	Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts
Lvm	Vl
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 1	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 1
Megalencephalic Leukoencephalopathy With Subcortical Cysts

Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b

Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b, Remitting, With Or Without Mental Retardation

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

Alexander Disease

Alexander'S Disease	ALXDRD
Alexanders Leukodystrophy	Axd
Demyelinogenic Leukodystrophy	Megalencephaly In Infancy Accompanied By Progressive Spasticity And Dementia
Alx	Dysmyelinogenic Leukodystrophy
Fibrinoid Degeneration Of Astrocytes	Leukodystrophy With Rosenthal Fibers
Alexander Disease Type Ii	Axd Type Ii
Alexander Disease Type I	Axd Type I
Alexanders Disease	Alexander'S Leukodystrophy

Leukoencephalopathy With Vanishing White Matter

Cree Leukoencephalopathy	Vanishing White Matter Disease
Ovarioleukodystrophy	Vanishing White Matter Leukodystrophy
Childhood Ataxia With Central Nervous System Hypomyelinization	Cach
Cach Syndrome	Myelinosis Centralis Diffusa
VWM	Cle
Childhood Ataxia With Central Nervous System Hypomyelination	Childhood Ataxia With Diffuse Central Nervous System Hypomyelination
Cach/Vwm	Cach/Vwm Syndrome
Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter	Cree Leukoencehalopathy
Late Infantile Cach Syndrome	Juvenile Or Adult Cach Syndrome
Congenital Or Early Infantile Cach Syndrome	Leukodystrophy With Vanishing White Matter

Canavan Disease

Aspartoacylase Deficiency	Aminoacylase 2 Deficiency
Spongy Degeneration Of Central Nervous System	Aspa Deficiency
Acy2 Deficiency	Canavan-Van Bogaert-Bertrand Disease
Mild Canavan Disease	Asp Deficiency
Spongy Degeneration Of The Central Nervous System	Severe Canavan Disease
Von Bogaert-Bertrand Disease	Canavan'S Disease
Spongy Degeneration Of The Brain	Juvenile Canavan Disease
Infantile Canavan Disease	Neonatal Canavan Disease
CAND	Disease, Canavan
Canavan Disease, Juvenile	Canavan Disease, Infantile
Canavan Disease, Neonatal

Jacobsen Syndrome

Chromosome 11q Deletion Syndrome	Partial 11q Monosomy Syndrome
Jacobsen Distal 11q Deletion Syndrome	JBS
11q Partial Monosomy Syndrome	Chromosome 11q Deletion
11q Deletion	11q Monosomy
Deletion 11q	Monosomy 11q
Partial Monosomy 11q	11q Deletion Disorder
11q Deletion Syndrome	11q Terminal Deletion Disorder
11q- Deletion Syndrome	11q23 Deletion Disorder
Jacobsen Thrombocytopenia	11q Terminal Deletion Syndrome
Del(11)(Q23.3)	Del(11)(Qter)
Distal Deletion 11q	Distal Monosomy 11q
Monosomy 11qter	Telomeric Deletion 11q
Paris-Trousseau Thrombocytopenia

Pelizaeus-Merzbacher Disease

PMD	HLD1
Pelizaeus-Merzbacher Brain Sclerosis	Leukodystrophy, Hypomyelinating, 1
Diffuse Familial Brain Sclerosis	Pelizaeus Merzbacher Brain Sclerosis
Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type	Cockayne-Pelizaeus-Merzbacher Disease
Hypomyelinating Leukodystrophy 1	Leukodystrophy, Sudanophilic
Pelizaeus Merzbacher Disease	Hypomyelinating Leukodystrophy, 1
Sudanophilic Leukodystrophy	Pelizaeus-Merzbacher Disease, Connatal Form
Connatal Pmd	Pelizaeus-Merzbacher Disease Type Ii
Severe Pmd	Null Syndrome
Plp1 Null Syndrome	Pelizaeus-Merzbacher Disease, Null Syndrome
Brain Sclerosis Diffuse Familial	Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type
Leukodystrophy Hypomyelinating 1	Diffuse Cerebral Sclerosis Of Schilder

Hepatocellular Carcinoma

Liver Cancer	Primary Liver Cancer
HCC	Hepatoma
Malignant Neoplasm Of Liver	Liver Neoplasms
Cancer, Hepatocellular	Liver Cell Carcinoma
Lcc	Hepatoblastoma, Somatic
Hepatic Cancer	Primary Malignant Neoplasm Of Liver
Rare Tumor Of Liver And Intrahepatic Biliary Tract	Hepatocellular Carcinoma, Somatic
Hepatocellular Carcinoma, Childhood Type, Somatic	Hepatocellular Cancer, Somatic
Ca Liver - Primary	Hepatic Neoplasm
Malignant Hepato-Biliary Neoplasm	Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
Malignant Neoplasm Of Liver, Primary	Malignant Tumor Of Liver
Neoplasm Of Liver	Non-Resectable Primary Hepatic Malignant Neoplasm
Resectable Malignant Neoplasm Of Liver	Resectable Malignant Neoplasm Of The Liver
Primary Liver Carcinoma	Primary Malignant Liver Neoplasm
Primary Cancer Of Liver	Primary Tumor Of The Liver
Rare Tumor Of Liver And Ibt	Hepatocellular Cancer
Neoplasm Of The Liver	Carcinoma, Hepatocellular
Hepatomas	Liver Neoplasm
Liver Carcinoma	Liver And Intrahepatic Biliary Tract Carcinoma
Malignant Hepatobiliary Neoplasm	Adult Primary Hepatocellular Carcinoma
Hepatoblastoma	Carcinoma Of Liver
Malignant Liver Tumour	Malignant Hepatic Tumour

Hypomyelinating Leukodystrophy

Hld	Leukodystrophy, Hypomyelinating

Leukodystrophy

Leukodystrophies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06122	HEPACAM Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS06123	HEPACAM2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	HEPACAM	VGNC	VGNC:41657
Bos taurus	HEPACAM	VGNC	VGNC:29810
Felis catus	HEPACAM	VGNC	VGNC:62796
Rattus norvegicus	HEPACAM	RGD	RGD:1306811
Macaca mulatta	HEPACAM	VGNC	VGNC:107452
Mus musculus	HEPACAM	MGD	MGI:1920177
Others	HEPACAM	NCBI

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