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Aliases for HEG1 Gene

Aliases for HEG1 Gene

  • Heart Development Protein With EGF Like Domains 1 2 3
  • Heart Development Protein With EGF-Like Domains 1 2 3 5
  • Heart Of Glass 2 3
  • HEG Homolog 1 (Zebrafish) 2
  • HEG Homolog 1 3
  • KIAA1237 4
  • MSTP112 3
  • MST112 3
  • HEG 3

External Ids for HEG1 Gene

Previous GeneCards Identifiers for HEG1 Gene

  • GC03M126171
  • GC03M124684
  • GC03M122058

Summaries for HEG1 Gene

GeneCards Summary for HEG1 Gene

HEG1 (Heart Development Protein With EGF Like Domains 1) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding.

UniProtKB/Swiss-Prot for HEG1 Gene

  • Receptor component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity May act through the stabilization of endothelial cell junctions.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEG1 Gene

Genomics for HEG1 Gene

Regulatory Elements for HEG1 Gene

Enhancers for HEG1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HEG1 on UCSC Golden Path with GeneCards custom track

Promoters for HEG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HEG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HEG1 Gene

124,965,710 bp from pter
125,055,958 bp from pter
90,249 bases
Minus strand

Genomic View for HEG1 Gene

Genes around HEG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEG1 Gene

Proteins for HEG1 Gene

  • Protein details for HEG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein HEG homolog 1
    Protein Accession:
    Secondary Accessions:
    • Q6NX66
    • Q8NC40
    • Q9BSV0

    Protein attributes for HEG1 Gene

    1381 amino acids
    Molecular mass:
    147461 Da
    Quaternary structure:
    • Interacts with CCM2 and KRIT1; KRIT1 markedly facilitates interaction with CCM2.
    • Sequence=AAH67235.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC11336.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HEG1 Gene

    Alternative splice isoforms for HEG1 Gene


neXtProt entry for HEG1 Gene

Proteomics data for HEG1 Gene at MOPED

Post-translational modifications for HEG1 Gene

  • Glycosylation at Thr 67, Thr 77, Ser 81, Thr 91, Ser 96, Asn 123, Thr 146, Ser 147, Ser 150, Asn 159, Asn 180, Thr 226, Asn 314, Thr 328, Thr 333, Thr 336, Ser 354, Thr 356, Thr 368, Asn 462, Asn 520, Ser 534, Thr 547, Thr 552, Thr 555, Ser 558, Asn 610, Ser 694, Thr 803, Thr 934, and Asn 1137
  • Modification sites at PhosphoSitePlus

Other Protein References for HEG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HEG1 Gene

Domains & Families for HEG1 Gene

Suggested Antigen Peptide Sequences for HEG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 2 EGF-like domains.
  • Contains 2 EGF-like domains.
genes like me logo Genes that share domains with HEG1: view

No data available for Gene Families for HEG1 Gene

Function for HEG1 Gene

Molecular function for HEG1 Gene

UniProtKB/Swiss-Prot Function:
Receptor component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity May act through the stabilization of endothelial cell junctions.
genes like me logo Genes that share phenotypes with HEG1: view

Animal Models for HEG1 Gene

MGI Knock Outs for HEG1:

Animal Model Products

miRNA for HEG1 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HEG1 Gene

Localization for HEG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEG1 Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein. Cell junction.
Isoform 2: Secreted.

Subcellular locations from

Jensen Localization Image for HEG1 Gene COMPARTMENTS Subcellular localization image for HEG1 gene
Compartment Confidence
extracellular 4
plasma membrane 4
endoplasmic reticulum 1
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for HEG1 Gene

Pathways & Interactions for HEG1 Gene

SuperPathways for HEG1 Gene

No Data Available

Interacting Proteins for HEG1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000311502 for HEG1 Gene via STRING

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for HEG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001570 vasculogenesis IEA --
GO:0001885 endothelial cell development IEA --
GO:0001945 lymph vessel development IEA --
GO:0003017 lymph circulation IEA --
GO:0003281 ventricular septum development IEA --
genes like me logo Genes that share ontologies with HEG1: view

No data available for Pathways by source and SIGNOR curated interactions for HEG1 Gene

Drugs & Compounds for HEG1 Gene

No Compound Related Data Available

Transcripts for HEG1 Gene

mRNA/cDNA for HEG1 Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HEG1 Gene

Heart development protein with EGF-like domains 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HEG1 Gene

No ASD Table

Relevant External Links for HEG1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HEG1 Gene

mRNA expression in normal human tissues for HEG1 Gene

Protein differential expression in normal tissues from HIPED for HEG1 Gene

This gene is overexpressed in Serum (54.8) and Urine (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for HEG1 Gene

SOURCE GeneReport for Unigene cluster for HEG1 Gene Hs.477420

genes like me logo Genes that share expression patterns with HEG1: view

Protein tissue co-expression partners for HEG1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HEG1 Gene

Orthologs for HEG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HEG1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia HEG1 35
  • 76.56 (n)
  • 66.46 (a)
HEG1 36
  • 65 (a)
(Canis familiaris)
Mammalia HEG1 35
  • 77.2 (n)
  • 69.51 (a)
HEG1 36
  • 68 (a)
(Mus musculus)
Mammalia Heg1 35
  • 74.66 (n)
  • 67.01 (a)
Heg1 16
Heg1 36
  • 63 (a)
(Pan troglodytes)
Mammalia HEG1 35
  • 98.91 (n)
  • 99.06 (a)
HEG1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Heg1 35
  • 72.64 (n)
  • 61.97 (a)
(Monodelphis domestica)
Mammalia HEG1 36
  • 44 (a)
(Ornithorhynchus anatinus)
Mammalia HEG1 36
  • 43 (a)
(Gallus gallus)
Aves HEG1 36
  • 49 (a)
(Anolis carolinensis)
Reptilia HEG1 36
  • 47 (a)
(Danio rerio)
Actinopterygii Dr.29400 35
heg 36
  • 31 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6035 35
Species with no ortholog for HEG1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HEG1 Gene

Gene Tree for HEG1 (if available)
Gene Tree for HEG1 (if available)

Paralogs for HEG1 Gene

No data available for Paralogs for HEG1 Gene

Variants for HEG1 Gene

Sequence variations from dbSNP and Humsavar for HEG1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs6790837 - 125,013,774(+) CATGA(A/G)AAAAG reference, missense
rs10804567 - 125,012,641(+) GGACA(C/G)TGTTG reference, missense
rs6438869 - 125,009,782(+) TGCAC(A/G)TGGCT reference, missense
rs4404487 - 125,027,503(-) GCCTC(A/G)GAAAG reference, synonymous-codon
rs2981546 - 125,027,205(-) CCTCA(A/C/T)GTGAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for HEG1 Gene

Variant ID Type Subtype PubMed ID
nsv877405 CNV Gain 21882294
nsv460841 CNV Loss 19166990
nsv829712 CNV Loss 17160897
esv34126 CNV Loss 18971310
esv22297 CNV Loss 19812545

Variation tolerance for HEG1 Gene

Residual Variation Intolerance Score: 91.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.45; 97.15% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for HEG1 Gene

Disorders for HEG1 Gene

Relevant External Links for HEG1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for HEG1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HEG1 Gene

Publications for HEG1 Gene

  1. Structural basis of the junctional anchorage of the cerebral cavernous malformations complex. (PMID: 23007647) Gingras A.R. … Ginsberg M.H. (J. Cell Biol. 2012) 2 3 4 67
  2. Regulation of cardiovascular development and integrity by the heart of glass-cerebral cavernous malformation protein pathway. (PMID: 19151727) Kleaveland B. … Kahn M.L. (Nat. Med. 2009) 2 3 23
  3. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Cerebral cavernous malformations arise independent of the heart of glass receptor. (PMID: 24643410) Zheng X. … Kahn M.L. (Stroke 2014) 3

Products for HEG1 Gene

Sources for HEG1 Gene