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HEPACAM hepatic and glial cell adhesion molecule [ Homo sapiens (human) ]

Gene ID: 220296, updated on 27-Nov-2024

Summary

Official Symbol
HEPACAMprovided by HGNC
Official Full Name
hepatic and glial cell adhesion moleculeprovided by HGNC
Primary source
HGNC:HGNC:26361
See related
Ensembl:ENSG00000165478 MIM:611642; AllianceGenome:HGNC:26361
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HEPN1; MLC2A; MLC2B; GlialCAM
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]
Expression
Biased expression in brain (RPKM 47.9), fat (RPKM 15.6) and 1 other tissue See more
Orthologs
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Genomic context

See HEPACAM in Genome Data Viewer
Location:
11q24.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (124919205..124936047, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (124947841..124964684, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (124789101..124805943, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124735644-124736320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:124738370-124738900 Neighboring gene Sharpr-MPRA regulatory region 2144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4035 Neighboring gene Sharpr-MPRA regulatory region 10426 Neighboring gene roundabout guidance receptor 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124756054-124756568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124756569-124757082 Neighboring gene uncharacterized LOC107984406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124767654-124768276 Neighboring gene roundabout guidance receptor 4 Neighboring gene hepatocellular carcinoma, down-regulated 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:124823758-124824301 Neighboring gene CCDC15 divergent transcript Neighboring gene coiled-coil domain containing 15 Neighboring gene MPRA-validated peak1499 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124853252-124854004

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ25530

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in immune response IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein localization to cell-cell junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell cycle IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in astrocyte end-foot IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
hepatic and glial cell adhesion molecule
Names
Putative cancer susceptibility gene HEPN1 protein
hepatocyte cell adhesion molecule
protein hepaCAM

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029603.1 RefSeqGene

    Range
    5366..22208
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001411043.1NP_001397972.1  hepatic and glial cell adhesion molecule isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AP003501
    Consensus CDS
    CCDS91616.1
    UniProtKB/TrEMBL
    A0A994J4I1
    Related
    ENSP00000515485.1, ENST00000703807.1
  2. NM_152722.5NP_689935.2  hepatic and glial cell adhesion molecule isoform 1 precursor

    See identical proteins and their annotated locations for NP_689935.2

    Status: REVIEWED

    Source sequence(s)
    AP003501, AY047587, BC037810, BC113562, DA239226
    Consensus CDS
    CCDS8456.1
    UniProtKB/Swiss-Prot
    Q14CZ8, Q67IP8, Q6ZWL4, Q8N7I3, Q8ND35
    Related
    ENSP00000298251.4, ENST00000298251.5
    Conserved Domains (3) summary
    smart00410
    Location:154235
    IG_like; Immunoglobulin like
    pfam07686
    Location:41141
    V-set; Immunoglobulin V-set domain
    pfam13895
    Location:150235
    Ig_2; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    124919205..124936047 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271449.3XP_005271506.1  hepatic and glial cell adhesion molecule isoform X1

    See identical proteins and their annotated locations for XP_005271506.1

    Conserved Domains (3) summary
    smart00410
    Location:154235
    IG_like; Immunoglobulin like
    pfam07686
    Location:41141
    V-set; Immunoglobulin V-set domain
    pfam13895
    Location:150235
    Ig_2; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    124947841..124964684 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368035.1XP_054224010.1  hepatic and glial cell adhesion molecule isoform X1