Aliases for HEG1 Gene
Aliases for HEG1 Gene
External Ids for HEG1 Gene
- HGNC: 29227
- Entrez Gene: 57493
- Ensembl: ENSG00000173706
- OMIM: 614182
- UniProtKB: Q9ULI3
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 , CIViC 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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HEG1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 3q21.2 by Ensembl
- 3q21.2 by Entrez Gene
- 3q21.2 by HGNC
HEG1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for HEG1 Gene
Post-translational modifications for HEG1 Gene
- Glycosylation at posLast=6767, isoforms=277, isoforms=281, posLast=9191, isoforms=296, posLast=123123, posLast=146146, isoforms=2147, posLast=150150, posLast=159159, posLast=180180, posLast=226226, isoforms=2314, posLast=328328, isoforms=2333, posLast=336336, isoforms=2354, isoforms=2356, isoforms=2368, isoforms=2462, isoforms=2520, posLast=534534, posLast=547547, isoforms=2552, isoforms=2555, isoforms=2558, isoforms=2610, isoforms=2694, isoforms=2803, isoforms=2934, and posLast=11371137
- Modification sites at PhosphoSitePlus
Other Protein References for HEG1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HEG1
-
Abcam antibodies for HEG1
- Invitrogen Antibodies for HEG1
- antibodies-online Antibodies for HEG1: See all 15
- Search GeneTex for Antibodies for HEG1
Protein Products
-
OriGene Purified Proteins for HEG1
- Search Origene for MassSpec and Protein Over-expression Lysates for HEG1
- Origene Custom Protein Services for HEG1
- Search GeneTex for Proteins for HEG1
Assay Products
No data available for DME Specific Peptides for HEG1 Gene
Domains & Families for HEG1 Gene
Protein Domains for HEG1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HEG1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families and UniProtKB/Swiss-Prot 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 23007647 |
Phenotypes for HEG1 Gene
- MGI mutant phenotypes for HEG1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for HEG1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HEG1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HEG1 gene
- Search ViGene Biosciences for HEG1
CRISPR Products
-
OriGene CRISPR knockouts for HEG1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HEG1
- GenScript: Design CRISPR guide RNA sequences for HEG1
miRNA for HEG1 Gene
- miRTarBase miRNAs that target HEG1
miRNA Products
- Search ViGene Biosciences for HEG1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HEG1
- Browse OriGene Inhibitory RNA Products For HEG1
-
ViGene Biosciences ready-to-package AAV shRNAs for HEG1 gene
Clone Products
Cell Line Products
-
Horizon Cell Lines for HEG1
-
ViGene Biosciences adenoviral particle packaged cDNA for HEG1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HEG1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HEG1 gene
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| extracellular | 4 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
| 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 | -- |
Pathways & Interactions for HEG1 Gene
No Data Available
Interacting Proteins 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 | -- |
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
CRISPR Products
-
OriGene CRISPR knockouts for HEG1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HEG1
- GenScript: Design CRISPR guide RNA sequences for HEG1
miRNA Products
- Search ViGene Biosciences for HEG1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HEG1
- Browse OriGene Inhibitory RNA Products For HEG1
-
ViGene Biosciences ready-to-package AAV shRNAs for HEG1 gene
Clone Products
Flow Cytometry Products
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of HEG1 Gene:
HEG1SOURCE GeneReport for Unigene cluster for HEG1 Gene:
Hs.477420Evidence on tissue expression from TISSUES for HEG1 Gene
- Nervous system(4.6)
- Kidney(4.2)
- Bone marrow(4.1)
- Heart(2.4)
- Spleen(2)
Primer Products
-
OriGene qPCR primer pairs for HEG1
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEG1 Gene
Orthologs for HEG1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HEG1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HEG1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HEG1 35 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Heg1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Heg1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HEG1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HEG1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HEG1 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | HEG1 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | heg 35 |
|
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)
Paralogs for HEG1 Gene
No data available for Paralogs for HEG1 Gene
Variants for HEG1 Gene
| SNP ID | Clin | Chr 03 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000026269 | -- | 125,031,395(+) | GCCAA(C/T)TGAGG | intron-variant | |
| rs1000067244 | -- | 124,988,184(+) | GAAAA(A/C)GTGAA | intron-variant | |
| rs1000096236 | -- | 125,032,726(+) | CAGAG(A/T)GAAGT | intron-variant | |
| rs1000120483 | -- | 125,055,300(+) | TTTTT(A/T)AAAGT | intron-variant | |
| rs1000173451 | -- | 125,055,158(+) | TCAGT(A/T)ATTTA | intron-variant |
| 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 |
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
No disorders were found for HEG1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HEG1 Gene
Publications for HEG1 Gene
- 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
- 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
- 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
- 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
- Heart of glass anchors Rasip1 at endothelial cell-cell junctions to support vascular integrity. (PMID: 26780829) de Kreuk B.J. … Ginsberg M.H. (Elife 2016) 3 64
Products for HEG1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
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- Custom Antibody Services
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- Custom Assay Services
- OriGene Purified Proteins for HEG1
- Search Origene for MassSpec and Protein Over-expression Lysates for HEG1
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- Browse OriGene Inhibitory RNA Products For HEG1
- OriGene qPCR primer pairs for HEG1
- OriGene CRISPR knockouts for HEG1
- OriGene ORF clones in human for HEG1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HEG1
- GenScript: Next-day shipping cDNA ORF clone for HEG1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for HEG1
- GenScript Custom Assay Services for HEG1
- GenScript Custom overexpressing Cell Line Services for HEG1
- GenScript: Design CRISPR guide RNA sequences for HEG1
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- Novus Biologicals Antibodies for HEG1
- Novus Biologicals proteins and lysates for HEG1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Invitrogen Antibodies for HEG1
- ViGene Biosciences adenoviral particle packaged cDNA for HEG1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for HEG1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for HEG1 gene
- Search ViGene Biosciences for HEG1
- Horizon Cell Lines for HEG1
- Cyagen custom Knockout/knockin (KOKI) mouse models for HEG1
- VectorBuilder custom plasmid, inducible vectors for HEG1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HEG1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HEG1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer