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Aliases for HEG1 Gene

Aliases for HEG1 Gene

  • Heart Development Protein With EGF Like Domains 1 2 3 5
  • Heart Of Glass 2 3
  • Heart Development Protein With EGF-Like Domains 1 2
  • HEG Homolog 1 (Zebrafish) 2
  • Protein HEG Homolog 1 3
  • 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F125136 1 Ensembl ENCODE 17.9 -81.2 -81185 2.1 HDGF JUN RELA GATA3 POLR2A EED FOS CREM EGR2 ZNF687 HEG1 RNU6-232P SLC12A8 MIR5092 RNU6-230P
GH03F125139 1.4 FANTOM5 Ensembl ENCODE 17.4 -88.7 -88709 11.1 TBL1XR1 ZNF133 SIN3A BMI1 EGR1 SCRT2 ZNF143 ETV6 FOS CREM HEG1 RNU6-232P SLC12A8 LOC100533621 OSBPL11 MIR5092 RNU6-230P
GH03F125022 0.2 Ensembl 15.7 +33.6 33558 0.4 HEG1 SLC12A8 PIR63061 MUC13
GH03F125079 1.2 Ensembl ENCODE 12.2 -23.5 -23543 1.0 SOX13 SIX4 PKNOX1 SAP130 ZFP64 JUN ZNF384 CEBPG RARA GATA3 HEG1 RNU6-230P SLC12A8 MUC13 RNU6-232P RNA5SP137 GC03M125120
GH03F125087 0.6 ENCODE 12.2 -32.0 -32004 0.2 HEG1 RNU6-230P SLC12A8 RNU6-232P RNA5SP137 GC03M125120
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001483148 558 2401 PKNOX1 ATF1 ARID4B YY1 SLC30A9 GLIS2 ZNF207 FOS SP3 MXD4

Genomic Location for HEG1 Gene

Chromosome:
3
Start:
124,965,710 bp from pter
End:
125,055,958 bp from pter
Size:
90,249 bases
Orientation:
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:
    Q9ULI3-HEG1_HUMAN
    Recommended name:
    Protein HEG homolog 1
    Protein Accession:
    Q9ULI3
    Secondary Accessions:
    • Q6NX66
    • Q8NC40
    • Q9BSV0

    Protein attributes for HEG1 Gene

    Size:
    1381 amino acids
    Molecular mass:
    147461 Da
    Quaternary structure:
    • Interacts with CCM2 and KRIT1; KRIT1 markedly facilitates interaction with CCM2.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for HEG1 Gene

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

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

Q9ULI3

UniProtKB/Swiss-Prot:

HEG1_HUMAN :
  • Contains 2 EGF-like domains.
Domain:
  • 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.

Gene Ontology (GO) - Molecular Function for HEG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with HEG1: view
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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for HEG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane IEA --
GO:0005911 cell-cell junction IEA --
GO:0009897 external side of plasma membrane IEA --
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with HEG1: view

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)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000311502%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q9ULI3-HEG1_HUMAN ENSP00000311502 for HEG1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for HEG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001570 vasculogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001885 endothelial cell development IEA --
GO:0001886 endothelial cell morphogenesis IEA --
GO:0001944 vasculature 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

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:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for HEG1 Gene

GeneLoc Exon Structure for
HEG1
ECgene alternative splicing isoforms for
HEG1

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, MaxQB, and MOPED for HEG1 Gene



Protein tissue co-expression partners for HEG1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HEG1 Gene:

HEG1

SOURCE GeneReport for Unigene cluster for HEG1 Gene:

Hs.477420
genes like me logo Genes that share expression patterns with HEG1: view

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
chimpanzee
(Pan troglodytes)
Mammalia HEG1 34 35
  • 98.91 (n)
dog
(Canis familiaris)
Mammalia HEG1 34 35
  • 77.2 (n)
cow
(Bos Taurus)
Mammalia HEG1 34 35
  • 76.56 (n)
mouse
(Mus musculus)
Mammalia Heg1 34 16 35
  • 74.66 (n)
rat
(Rattus norvegicus)
Mammalia Heg1 34
  • 72.64 (n)
oppossum
(Monodelphis domestica)
Mammalia HEG1 35
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEG1 35
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEG1 35
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEG1 35
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii heg 35
  • 31 (a)
OneToOne
Dr.29400 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6035 34
Species where no ortholog for HEG1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for HEG1 (if available)
TreeFam:
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
rs10512633 -- 124,980,358(+) TTCTC(A/T)CTTCC intron-variant
rs10522507 -- 125,046,430(+) ACACA(-/CACACA)TATAT intron-variant
rs10553826 -- 125,031,681(+) TACAT(-/AC)ACACA intron-variant
rs10565452 -- 125,022,397(+) ACAGC(-/GA)GAGAG intron-variant
rs10588043 -- 125,022,696(+) AAAAA(-/G)AAATA intron-variant

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

Variant ID Type Subtype PubMed ID
esv22297 CNV loss 19812545
esv3353884 CNV duplication 20981092
esv34126 CNV loss 18971310
nsv1001677 CNV loss 25217958
nsv1013198 CNV gain 25217958
nsv1133560 CNV deletion 24896259
nsv1160974 CNV duplication 26073780
nsv460841 CNV loss 19166990
nsv477617 CNV novel sequence insertion 20440878
nsv480421 CNV novel sequence insertion 20440878
nsv481097 CNV novel sequence insertion 20440878
nsv591458 CNV loss 21841781
nsv591459 CNV loss 21841781
nsv829712 CNV loss 17160897

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)

Relevant External Links for HEG1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEG1 Gene

Disorders for HEG1 Gene

Relevant External Links for HEG1

Genetic Association Database (GAD)
HEG1
Human Genome Epidemiology (HuGE) Navigator
HEG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HEG1

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 64
  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 22 64
  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 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for HEG1 Gene

Sources for HEG1 Gene

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