U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

HEG1 heart development protein with EGF like domains 1 [ Homo sapiens (human) ]

Gene ID: 57493, updated on 7-Apr-2025

Summary

Official Symbol
HEG1provided by HGNC
Official Full Name
heart development protein with EGF like domains 1provided by HGNC
Primary source
HGNC:HGNC:29227
See related
Ensembl:ENSG00000173706 MIM:614182; AllianceGenome:HGNC:29227
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
HEG; MST112; MSTP112
Summary
Predicted to enable calcium ion binding activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of Rho-dependent protein serine/threonine kinase activity; and negative regulation of membrane permeability. Located in cell-cell junction. [provided by Alliance of Genome Resources, Apr 2025]
Expression
Broad expression in thyroid (RPKM 26.8), lung (RPKM 26.7) and 23 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See HEG1 in Genome Data Viewer
Location:
3q21.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (124965710..125055997, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (127691280..127781663, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (124684554..124774841, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene integrin subunit beta 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:124587550-124588050 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:124588051-124588551 Neighboring gene Sharpr-MPRA regulatory region 8988 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:124604052-124604936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14655 Neighboring gene enolase 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14656 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:124606705-124607587 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:124607588-124608472 Neighboring gene NANOG hESC enhancer GRCh37_chr3:124626617-124627118 Neighboring gene mucin 13, cell surface associated Neighboring gene Sharpr-MPRA regulatory region 13474 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:124720175-124721374 Neighboring gene Sharpr-MPRA regulatory region 1791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:124762717-124763230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14659 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20409 Neighboring gene RNA, 5S ribosomal pseudogene 137 Neighboring gene differentiation and growth arrest related lncRNA

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

  • KIAA1237, MGC72175

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within cardiac atrium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cardiac muscle tissue growth IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cell-cell junction organization IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within endothelial cell development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within endothelial cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within heart development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lung development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lymph circulation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lymph vessel development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of Rho protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of Rho-dependent protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of membrane permeability IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within pericardium development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within positive regulation of fibroblast growth factor production IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to cell junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of body fluid levels IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within vasculature development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within venous blood vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within ventricular septum development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within ventricular trabecula myocardium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
located_in external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein HEG homolog 1
Names
heart of glass

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_020733.2NP_065784.1  protein HEG homolog 1 precursor

    See identical proteins and their annotated locations for NP_065784.1

    Status: VALIDATED

    Source sequence(s)
    AB033063, AC026342, AC092983, AC117488, DR003209
    Consensus CDS
    CCDS46898.1
    UniProtKB/Swiss-Prot
    Q6NX66, Q8NC40, Q9BSV0, Q9ULI3
    UniProtKB/TrEMBL
    A0A994J6K3
    Related
    ENSP00000311502.3, ENST00000311127.9
    Conserved Domains (3) summary
    smart00179
    Location:10251056
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:9861022
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam17061
    Location:724876
    PARM; PARM

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    124965710..125055997 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    127691280..127781663 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)