HEPACAM (hepatic and glial cell adhesion molecule)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
220296
Gene name Gene Name - the full gene name approved by the HGNC.
Hepatic and glial cell adhesion molecule
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HEPACAM
Synonyms (NCBI Gene) Gene synonyms aliases
GlialCAM, HEPN1, MLC2A, MLC2B
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q24.2
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(40)
miRTarBase ID miRNA Experiments Reference
MIRT1044227 hsa-miR-124 CLIP-seq
MIRT1044228 hsa-miR-154 CLIP-seq
MIRT1044229 hsa-miR-2909 CLIP-seq
MIRT1044230 hsa-miR-3622b-5p CLIP-seq
MIRT1044231 hsa-miR-4278 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IEA
GO:0005911 Component Cell-cell junction IBA
GO:0005911 Component Cell-cell junction IDA 21419380
GO:0006955 Process Immune response IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611642 26361 ENSG00000165478
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q14CZ8
Protein name Hepatic and glial cell adhesion molecule (glialCAM) (Hepatocyte cell adhesion molecule) (Protein hepaCAM)
Protein function Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation (PubMed:15885354, PubMed:15917256). In glia, associates and targets CLCN2 at astrocytic processes and myelinated
PDB 7UQC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 38 → 142 Immunoglobulin V-set domain Domain
PF13927 Ig_3 147 → 221 Domain
Sequence 
MKRERGALSRASRALRLAPFVYLLLIQTDPLEGVNITSPVRLIHGTVGKSALLSVQYSST
SSDRPVVKWQLKRDKPVTVVQSIGTEVIGTLRPDYRDRIRLFENGSLLLSDLQLADEGTY
EVEISITDDTFTGEKTINLTVDVPISRPQVLVASTTVLELSEAFTLNCSHENGTKPSYTW
LKDGKPLLNDSRMLLSPDQKVLTITRVLMEDDDLYSCMVENPISQGRSLPVKITVYRRSS
LYIILSTGGIFLLVTLVTVCACWKPSKRKQKKLEKQNSLEYMDQNDDRLKPEADTLPRSG
EQERKNPMALYILKDKDSPETEENPAPEPRSATEPGPPGYSVSPAVPGRSPGLPIRSARR
YPRSPARSPATGRTHSSPPRAPSSPGRSRSASRTLRTAGVHIIREQDEAGPVEISA
Sequence length 416
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Megalencephalic Leukoencephalopathy With Subcortical Cysts megalencephalic leukoencephalopathy with subcortical cysts 2a, Megalencephalic leukoencephalopathy with subcortical cysts 1 rs387907051, rs387907052, rs387907053, rs387907055, rs1565339091, rs387907049, rs387907050 N/A
Megalencephalic Leukoencephalopathy With Subcortical Cysts, With Or Without Mental Retardation Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability rs387907053, rs387907055 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
autism spectrum disorder Autism spectrum disorder N/A N/A ClinVar
Macrocephaly macrocephaly-autism syndrome N/A N/A GenCC
Mental retardation intellectual disability N/A N/A ClinVar
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Associate 29661901
Brain Diseases Associate 37722850
Breast Neoplasms Associate 15917256, 21803008, 29287594
Carcinoma Hepatocellular Associate 33736645
Carcinoma Non Small Cell Lung Inhibit 26392113
Carcinoma Transitional Cell Inhibit 20205955
Carcinoma Transitional Cell Associate 26192362
Cysts Associate 29661901, 35468122
Glioblastoma Associate 37722850
Intellectual Disability Associate 29661901