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Heg1 Gene Detail
Summary
  • Symbol
    Heg1
  • Name
    heart development protein with EGF-like domains 1
  • Synonyms
    4632417D23Rik, 5530401I02Rik, 9530025L16Rik, LOC268884
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924696
    NCBI Gene: 77446
  • Alliance
    gene page
  • Transcription Start Sites
    17 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:33504754-33591946 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 24.17 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    864 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1924696
 protein coding gene Chr16:33504740-33591946 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022757
 protein coding gene Chr16:31902092-31996295 (+)
A/J MGP_AJ_G0022722
 protein coding gene Chr16:30371598-30458898 (+)
AKR/J MGP_AKRJ_G0022695
 protein coding gene Chr16:31441128-31534946 (+)
BALB/cJ MGP_BALBcJ_G0022724
 protein coding gene Chr16:30482916-30572566 (+)
C3H/HeJ MGP_C3HHeJ_G0022489
 protein coding gene Chr16:31569794-31658968 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023173
 protein coding gene Chr16:32607844-32699686 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020691
 protein coding gene Chr16:30718183-30805430 (+)
CAST/EiJ MGP_CASTEiJ_G0022017
 protein coding gene Chr16:31748651-31837868 (+)
CBA/J MGP_CBAJ_G0022459
 protein coding gene Chr16:33908129-34007126 (+)
DBA/2J MGP_DBA2J_G0022592
 protein coding gene Chr16:30195322-30283810 (+)
FVB/NJ MGP_FVBNJ_G0022567
 protein coding gene Chr16:30187062-30273868 (+)
LP/J MGP_LPJ_G0022659
 protein coding gene Chr16:31634532-31726425 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022586
 protein coding gene Chr16:33290649-33384617 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023185
 protein coding gene Chr16:31449959-31542655 (+)
PWK/PhJ MGP_PWKPhJ_G0021758
 protein coding gene Chr16:30570280-30660206 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021587
 protein coding gene Chr16:31240672-31333768 (+)
WSB/EiJ MGP_WSBEiJ_G0022061
 protein coding gene Chr16:31414423-31506107 (+)



Homology
more
  • Human Ortholog
    HEG1, heart development protein with EGF like domains 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HEG1, heart development protein with EGF like domains 1
  • Synonyms
    HEG, MST112, MSTP112
  • Links
    NCBI Gene ID: 57493
    neXtProt AC: NX_Q9ULI3
    UniProt: Q9ULI3

  • Chr Location
    3q21.2; chr3:124965710-125055997 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 2 alleles in 2 genetic backgrounds
    17 phenotypes from multigenic genotypes
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit impaired integrity of the heart, blood vessels and lymphatic vessels, resulting in hemopericardium, lung hemorrhage, lymphangiectasis, and chylous ascites, as well as embryonic and postnatal lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    41
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    803
  • Tissues
    52
  • cDNA Data
    12
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 77446 NCBI Gene Model | MGI Sequence Detail 87193 C57BL/6J ±  kb
    transcript NM_175256 RefSeq | MGI Sequence Detail 4804 C57BL/6  
    polypeptide E9Q7X6 UniProt | EBI | MGI Sequence Detail 1337 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 12

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1918609, MGI:2685475, MGI:3039595, MGI:3606087, MGI:3801754
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 6
      Gene Ontology 7
      Phenotypes 8
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:328992 Manuel M, et al., Pax6 limits the competence of developing cerebral cortical cells to respond to inductive intercellular signals. PLoS Biol. 2022 Sep;20(9):e3001563
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory