HEPACAM (hepatic and glial cell adhesion molecule)

Gene

• Entrez ID: 220296
• Gene name: Hepatic and glial cell adhesion molecule
• Gene symbol: HEPACAM
• Synonyms (NCBI Gene): GlialCAM, HEPN1, MLC2A, MLC2B
• Chromosome: 11
• Chromosome location: 11q24.2
• 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

miRNA

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
MIRT1044232	hsa-miR-4300	CLIP-seq
MIRT1044233	hsa-miR-4642	CLIP-seq
MIRT1044234	hsa-miR-4787-5p	CLIP-seq
MIRT1044235	hsa-miR-506	CLIP-seq
MIRT1044236	hsa-miR-520f	CLIP-seq
MIRT1044237	hsa-miR-558	CLIP-seq
MIRT1044238	hsa-miR-636	CLIP-seq
MIRT1044239	hsa-miR-920	CLIP-seq
MIRT1044240	hsa-miR-939	CLIP-seq
MIRT2009590	hsa-miR-1200	CLIP-seq
MIRT2009591	hsa-miR-1224-5p	CLIP-seq
MIRT2009592	hsa-miR-1245b-5p	CLIP-seq
MIRT2009593	hsa-miR-1915	CLIP-seq
MIRT2009594	hsa-miR-219-5p	CLIP-seq
MIRT2009595	hsa-miR-3074-5p	CLIP-seq
MIRT2009596	hsa-miR-3142	CLIP-seq
MIRT2009597	hsa-miR-3185	CLIP-seq
MIRT2009598	hsa-miR-4324	CLIP-seq
MIRT2009599	hsa-miR-433	CLIP-seq
MIRT2009600	hsa-miR-4445	CLIP-seq
MIRT2009601	hsa-miR-4493	CLIP-seq
MIRT2009602	hsa-miR-4751	CLIP-seq
MIRT2009603	hsa-miR-4782-3p	CLIP-seq
MIRT2009604	hsa-miR-508-3p	CLIP-seq
MIRT2009605	hsa-miR-544b	CLIP-seq
MIRT2009606	hsa-miR-664	CLIP-seq
MIRT2241905	hsa-miR-299-3p	CLIP-seq
MIRT1044232	hsa-miR-4300	CLIP-seq
MIRT2009599	hsa-miR-433	CLIP-seq
MIRT2241906	hsa-miR-4436b-3p	CLIP-seq
MIRT2241907	hsa-miR-4648	CLIP-seq
MIRT2241908	hsa-miR-4654	CLIP-seq
MIRT2241909	hsa-miR-4769-5p	CLIP-seq
MIRT2009606	hsa-miR-664	CLIP-seq
MIRT1044239	hsa-miR-920	CLIP-seq

Gene ontology (GO)

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
GO:0007155	Process	Cell adhesion	IEA
GO:0016020	Component	Membrane	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0097450	Component	Astrocyte end-foot	IDA	22405205
GO:0150105	Process	Protein localization to cell-cell junction	IMP	21419380

Other IDs

• MIM: 611642
• HGNC: 26361
• e!Ensembl: ENSG00000165478

Protein

• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
HEPACAM-related disorder	Likely pathogenic; Pathogenic	rs387907053	RCV003407358	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megalencephalic leukoencephalopathy with subcortical cysts 1	Likely pathogenic	rs1565339091	RCV000722141	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megalencephalic leukoencephalopathy with subcortical cysts 2A	Likely pathogenic; Pathogenic	rs2497455398, rs387907049, rs2497463030, rs387907050, rs387907051, rs387907052, rs387907053, rs387907055, rs1555055028	RCV004527535 RCV000023902 RCV000023903 RCV000023904 RCV000023905 RCV000023906 RCV000055996 RCV000055997 RCV000499085	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT	Likely pathogenic	rs387907054	RCV002280810	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability	Pathogenic; Likely pathogenic	rs752637604, rs387907053, rs387907055, rs1555055028	RCV003323873 RCV000023907 RCV000023909 RCV000499085	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autism spectrum disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24580998		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CLINVAR_DG	30763456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	21419380, 29661901		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	29661901	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	20205955, 20628239, 24324362, 26192362, 26677113, 26873485, 28229220		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	37722850	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18845560		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15917256, 21803008, 29287594	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33736645	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	20205955, 20628239, 24324362, 26192362, 26677113, 26873485, 28229220		★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	20205955	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	26192362	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28244854		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20110109, 21618595, 28093267, 30528714		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	15063784		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19507233		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37722850	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19507233		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	26078562		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21419380, 29661901		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	29661901	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Kidney Neoplasms	Kidney neoplasm	Pubtator	24324362	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	26033718, 28905383		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	26033718, 31960914, 35468122	Associate	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	24647135, 25044933, 26193381, 27389245, 28695146		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15885354, 18845560		★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	26078562		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	21419380, 24580998		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly-intellectual disability-autism syndrome	Macrocephaly-Intellectual Disability-Autism Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
MACROCEPHALY/AUTISM SYNDROME	Macrocephaly Autism Syndrome	ORPHANET_DG	21419380		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18845560		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29658567, 30664187		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	20205955, 20628239, 24324362, 26192362, 26677113, 26873485, 28229220		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21618595, 22906662, 24324362, 24645843, 26392113, 28244854, 30528714		★☆☆☆☆ Found in Text Mining only
Megalencephalic leukoencephalopathy with subcortical cysts	Megalencephalic Leukoencephalopathy With Subcortical Cysts	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	Megalencephalic Leukoencephalopathy With Subcortical Cysts	BEFREE	21419380, 21624973, 23793458, 24202401, 24647135, 24824219, 25044933, 25497041, 26193381, 28398517, 28905383, 29079544, 29661901, 30076890, 31372844		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	Megalencephalic Leukoencephalopathy With Subcortical Cysts	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	Megalencephalic Leukoencephalopathy With Subcortical Cysts	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A	Megalencephalic Leukoencephalopathy With Subcortical Cysts	UNIPROT_DG	21419380		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A	Megalencephalic Leukoencephalopathy With Subcortical Cysts	GENOMICS_ENGLAND_DG	21419380, 24357685, 25655951		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A	Megalencephalic Leukoencephalopathy With Subcortical Cysts	BEFREE	31372844		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A	Megalencephalic Leukoencephalopathy With Subcortical Cysts	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION	Megalencephalic Leukoencephalopathy With Subcortical Cysts, With Or Without Mental Retardation	UNIPROT_DG	21419380		★☆☆☆☆ Found in Text Mining only
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION	Megalencephalic Leukoencephalopathy With Subcortical Cysts, With Or Without Mental Retardation	GENOMICS_ENGLAND_DG	21419380, 24357685, 25655951		★☆☆☆☆ Found in Text Mining only
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION	Megalencephalic Leukoencephalopathy With Subcortical Cysts, With Or Without Mental Retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION	Megalencephalic Leukoencephalopathy With Subcortical Cysts, With Or Without Mental Retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	21419380		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20110109, 20205955, 20593288, 22906662, 24324362, 26677113, 28093267, 28229220, 29658567, 30664187		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26392113		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29658567, 30664187		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29658567, 30664187	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33024272	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	24645843		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20110109, 21618595, 24645843, 28093267, 30528714		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	20205955, 20628239, 22906662, 26192362		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	20205955, 26873485	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24324362, 26192362, 28229220	Inhibit	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	20593288		★☆☆☆☆ Found in Text Mining only