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 2022]
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_2023_03	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (124965710..125055997, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (127691280..127781663, complement)
105.20220307	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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
These data show that HEG1 can recruit the Rap1-KRIT complex to the plasma membrane.
Title: The structure of the ternary complex of Krev interaction trapped 1 (KRIT1) bound to both the Rap1 GTPase and the heart of glass (HEG1) cytoplasmic tail.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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
involved_in cardiac atrium morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle tissue growth	IEA Inferred from Electronic Annotation more info
involved_in cell-cell junction organization	IEA Inferred from Electronic Annotation more info
involved_in endothelial cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in lung development	IEA Inferred from Electronic Annotation more info
involved_in lymph circulation	IEA Inferred from Electronic Annotation more info
involved_in lymph vessel development	IEA Inferred from Electronic Annotation more info
involved_in 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
involved_in pericardium development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of fibroblast growth factor production	IEA Inferred from Electronic Annotation more info
involved_in 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
involved_in regulation of body fluid levels	IEA Inferred from Electronic Annotation more info
involved_in vasculogenesis	IEA Inferred from Electronic Annotation more info
involved_in venous blood vessel morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in ventricular septum development	IEA Inferred from Electronic Annotation more info
involved_in ventricular trabecula myocardium morphogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
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

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