Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	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

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miRTarBase ID	miRNA	Experiments
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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA
GO:0005911	Component	Cell-cell junction	IDA	21419380
GO:0007050	Process	Cell cycle arrest	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0030424	Component	Axon	IDA	21419380
GO:0034613	Process	Cellular protein localization	IEA
GO:0040008	Process	Regulation of growth	IEA

MIM	HGNC	e!Ensembl
611642	26361	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

Interactions

View interactions

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728 View all (51 more)	30763456
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Macrocephaly autism syndrome	MACROCEPHALY/AUTISM SYNDROME	rs121909219, rs121909224, rs121909227, rs121909231, rs121909238, rs121909239, rs121909240, rs397514559, rs397514560, rs398123323, rs146650273, rs398123329, rs398123317, rs587776667, rs786204863 View all (16 more)	21419380
Megalencephalic leukoencephalopathy with subcortical cysts	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A, Megalencephalic leukoencephalopathy with subcortical cysts	rs80358245, rs1183818307, rs121908343, rs121908344, rs121908345, rs267607236, rs80358242, rs80358241, rs80358243, rs387907049, rs387907050, rs387907051, rs387907052, rs387907053, rs387907055 View all (34 more)	21419380, 25655951, 24357685
Megalencephalic leukoencephalopathy with subcortical cysts, with or without mental retardation	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION	rs387907053, rs387907055	25655951, 21419380, 24357685
Mental retardation	Mild Mental Retardation, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Megalencephalic Leukoencephalopathy With Subcortical Cysts	megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability, megalencephalic leukoencephalopathy with subcortical cysts			GenCC

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Kidney Neoplasms	Inhibit	24324362
Leukodystrophy Metachromatic	Associate	26033718, 31960914, 35468122
Megalencephalic leukoencephalopathy with subcortical cysts	Associate	22552818, 27322623, 29661901, 31960914, 32521795, 35468122, 37722850
Neoplasm Metastasis	Inhibit	26392113
Neoplasms	Inhibit	20205955, 24324362, 26392113, 28229220, 29658567, 30664187
Neoplasms	Associate	26873485
Prostatic Neoplasms	Inhibit	29658567, 30664187
Prostatic Neoplasms	Associate	33024272
Prostatic Neoplasms Castration Resistant	Inhibit	29658567
Urinary Bladder Neoplasms	Associate	20205955, 26873485
Urinary Bladder Neoplasms	Inhibit	24324362, 26192362, 28229220

HEPACAM (hepatic and glial cell adhesion molecule)