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

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HEG1 Protects Against Atherosclerosis by Regulating Stable Flow-Induced KLF2/4 Expression in Endothelial Cells.
Title: HEG1 Protects Against Atherosclerosis by Regulating Stable Flow-Induced KLF2/4 Expression in Endothelial Cells.
LncRNA SNHG12 promotes proliferation and epithelial mesenchymal transition in hepatocellular carcinoma through targeting HEG1 via miR-516a-5p.
Title: LncRNA SNHG12 promotes proliferation and epithelial mesenchymal transition in hepatocellular carcinoma through targeting HEG1 via miR-516a-5p.
Membranous HEG1 expression is a useful marker in the differential diagnosis of epithelioid and biphasic malignant mesothelioma versus carcinomas.
Title: Membranous HEG1 expression is a useful marker in the differential diagnosis of epithelioid and biphasic malignant mesothelioma versus carcinomas.
HEG1-responsive microRNA-23b regulates cell proliferation in malignant mesothelioma cells.
Title: HEG1-responsive microRNA-23b regulates cell proliferation in malignant mesothelioma cells.
HEG1 Is a Highly Specific and Sensitive Marker of Epithelioid Malignant Mesothelioma.
Title: HEG1 Is a Highly Specific and Sensitive Marker of Epithelioid Malignant Mesothelioma.
HEG1 overexpression significantly promotes HCC cell migration, invasion and epithelial-mesenchymal transition.
Title: HEG1 indicates poor prognosis and promotes hepatocellular carcinoma invasion, metastasis, and EMT by activating Wnt/β-catenin signaling.
he specific detection of mesothelioma with SKM9-2 can thus be performed by the recognition of sialylated glycan modification in the specific region of HEG1
Title: Identification of mesothelioma-specific sialylated epitope recognized with monoclonal antibody SKM9-2 in a mucin-like membrane protein HEG1.
Study shows that HEG homolog 1 is a novel mucin-like membrane protein that serves as a diagnostic and therapeutic target for malignant mesothelioma.
Title: HEG1 is a novel mucin-like membrane protein that serves as a diagnostic and therapeutic target for malignant mesothelioma.
These studies establish that the binding of HEG1 to Rasip1 mediates Rap1-dependent recruitment of Rasip1 to and stabilization of endothelial cell cell-cell junctions.
Title: Heart of glass anchors Rasip1 at endothelial cell-cell junctions to support vascular integrity.
Human patients with cerebral cavernous malformations who lack exonic mutations in krev interaction trapped protein (KRIT)1, cerebral cavernous malformation (CCM) protein 2, or programmed cell death (PDCD)10 protein do not have mutations in HEG.
Title: Cerebral cavernous malformations arise independent of the heart of glass receptor.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-149756 (e-PCR)
- UniSTS:177198

SHGC-31348 (e-PCR)
- UniSTS:46898

G20489 (e-PCR)
- UniSTS:56885

A005T39 (e-PCR)
- UniSTS:56886

G54625 (e-PCR)
- UniSTS:117826

SHGC-132424 (e-PCR)
- UniSTS:170836

RH78887 (e-PCR)
- UniSTS:32870

G59967 (e-PCR)
- UniSTS:137103

G20477 (e-PCR)
- UniSTS:8088

A005T15 (e-PCR)
- UniSTS:8089

RH123979 (e-PCR)
- UniSTS:136117

RH80409 (e-PCR)
- UniSTS:91067

D3S3919 (e-PCR)
- UniSTS:79832

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

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Preferred Names: protein HEG homolog 1

Names: heart of glass

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)

NM_020733.2 → NP_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:1025 → 1056

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:986 → 1022

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:724 → 876

PARM; PARM