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ESAM endothelial cell adhesion molecule [ Homo sapiens (human) ]

Gene ID: 90952, updated on 27-May-2023

Summary

Official Symbol
ESAMprovided by HGNC
Official Full Name
endothelial cell adhesion moleculeprovided by HGNC
Primary source
HGNC:HGNC:17474
See related
Ensembl:ENSG00000149564 MIM:614281; AllianceGenome:HGNC:17474
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
W117m; NEDIHSS
Summary
Enables cell-cell adhesion mediator activity. Involved in several processes, including bicellular tight junction assembly; cell-cell adhesion; and regulation of actin cytoskeleton organization. Located in cell-cell junction and plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in placenta (RPKM 71.1), thyroid (RPKM 67.5) and 21 other tissues See more
Orthologs
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Genomic context

See ESAM in Genome Data Viewer
Location:
11q24.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (124753126..124762290, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (124781790..124790954, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (124623022..124632186, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124616341-124616874 Neighboring gene neurogranin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:124621349-124621910 Neighboring gene V-set and immunoglobulin domain containing 2 Neighboring gene Sharpr-MPRA regulatory region 10895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124631741-124632244 Neighboring gene ESAM antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 2909 Neighboring gene Myb/SANT DNA binding domain containing 2 Neighboring gene NANOG hESC enhancer GRCh37_chr11:124663166-124663667

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?

Phenotypes

Associated conditions

Description Tests
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
MedGen: CN327133 OMIM: 620371 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cell-cell adhesion mediator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cell-cell adhesion mediator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
endothelial cell-selective adhesion molecule
Names
2310008D05Rik
HUEL (C4orf1)-interacting protein
LP4791 protein

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.

mRNA and Protein(s)

  1. NM_138961.3NP_620411.2  endothelial cell-selective adhesion molecule precursor

    See identical proteins and their annotated locations for NP_620411.2

    Status: VALIDATED

    Source sequence(s)
    AK075396, AP000866
    Consensus CDS
    CCDS8453.1
    UniProtKB/Swiss-Prot
    Q96AP7, Q96T50
    Related
    ENSP00000278927.5, ENST00000278927.10
    Conserved Domains (2) summary
    smart00410
    Location:166241
    IG_like; Immunoglobulin like
    pfam07686
    Location:40150
    V-set; Immunoglobulin V-set domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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
    124753126..124762290 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    124781790..124790954 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)