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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	220296
Gene name	Hepatic and glial cell adhesion molecule
Gene symbol	HEPACAM
Synonyms (NCBI Gene)	GlialCAMHEPN1MLC2AMLC2B
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

Show/Hide all (40)

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

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
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

MIM	HGNC	e!Ensembl
611642	26361	ENSG00000165478

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

179

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
HEPACAM-related disorder	Likely pathogenic; Pathogenic	rs387907053	RCV003407358
Megalencephalic leukoencephalopathy with subcortical cysts 1	Likely pathogenic	rs1565339091	RCV000722141
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
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT	Likely pathogenic	rs387907054	RCV002280810
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability	Pathogenic; Likely pathogenic	rs752637604, rs387907053, rs387907055, rs1555055028	RCV003323873 RCV000023907 RCV000023909 RCV000499085

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism spectrum disorder	Conflicting classifications of pathogenicity	rs375712202	RCV000754671
Cholangiocarcinoma	Uncertain significance	rs12576272	RCV005892943
Intellectual disability	Conflicting classifications of pathogenicity	rs536963649, rs770477104	RCV001252515 RCV005625607
Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs751190197, rs192160991, rs116102273, rs11826299, rs10790715, rs10790716, rs112686308, rs74570840, rs560243987, rs886047919, rs78859654, rs886047922, rs372662415, rs12576272, rs72505890 View all (69 more)	RCV002265537 RCV000322111 RCV000268154 RCV000323322 RCV000348422 RCV000405459 RCV000403502 RCV000300441 RCV000386525 RCV000279667 RCV000340406 RCV000270564 RCV000370888 RCV000356056 RCV000274120 RCV000331473 RCV000285196 RCV000405255 RCV000297932 RCV000329262 RCV000302081 RCV000266865 RCV000272684 RCV000331400 RCV000329714 RCV000371935 RCV000301826 RCV000310190 RCV000362809 RCV000316498 RCV000373482 RCV000350438 RCV000369981 RCV000288266 RCV000277570 RCV000280384 RCV000337819 RCV000341822 RCV000395500 RCV000313847 RCV000263598 RCV000284111 RCV000390651 RCV000397413 RCV000262248 RCV000382583 RCV000293571 RCV000335539 RCV000404367 RCV000320408 RCV000379637 RCV000344758 RCV000290831 RCV000315589 RCV000357444 RCV000358121 RCV000383269 RCV000294554 RCV000337103 RCV000397096 RCV000361521 RCV000307943 RCV000362576 RCV000385985 RCV002264964 RCV001103384 RCV001108553 RCV001106335 RCV001108375 RCV001108376 RCV001108377 RCV001103207 RCV001103208 RCV001105122 RCV001105123 RCV001105124 RCV001105125 RCV001106244 RCV001106245 RCV001106246 RCV001103287 RCV001103288 RCV001103289 RCV001105202 RCV001106336 RCV001106337 RCV001108554 RCV001105201
Thymoma	Benign; Uncertain significance	rs78569253, rs12576272	RCV005919967 RCV005892942

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)