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Hand2 Gene Detail
Summary
  • Symbol
    Hand2
  • Name
    heart and neural crest derivatives expressed 2
  • Synonyms
    bHLHa26, dHAND, Ehand2, Hed, Thing2
  • Feature Type
    protein coding gene
  • IDs
    MGI:103580
    NCBI Gene: 15111
  • Gene Overview
    MyGene.info: HAND2
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:57320983-57324517 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 29.80 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    36 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103580
protein coding gene Chr8:57320983-57324633 (.)
129S1/SvImJ MGP_129S1SvImJ_G0033621
protein coding gene Chr8:57032204-57037056 (+)
A/J MGP_AJ_G0033603
protein coding gene Chr8:54638828-54642362 (+)
AKR/J MGP_AKRJ_G0033528
protein coding gene Chr8:56261310-56264844 (+)
BALB/cJ MGP_BALBcJ_G0033600
protein coding gene Chr8:54953412-54956948 (+)
C3H/HeJ MGP_C3HHeJ_G0033309
protein coding gene Chr8:56918259-56921793 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034116
protein coding gene Chr8:59223574-59227108 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031064
protein coding gene Chr8:50187192-50190734 (+)
CAST/EiJ MGP_CASTEiJ_G0032635
protein coding gene Chr8:56283127-56286702 (+)
CBA/J MGP_CBAJ_G0033288
protein coding gene Chr8:61332676-61336246 (+)
DBA/2J MGP_DBA2J_G0033441
protein coding gene Chr8:54448928-54452643 (+)
FVB/NJ MGP_FVBNJ_G0033382
protein coding gene Chr8:53805226-53809405 (+)
LP/J MGP_LPJ_G0033529
protein coding gene Chr8:57050394-57054981 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033426
protein coding gene Chr8:62946548-62950082 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034134
protein coding gene Chr8:56482268-56485799 (+)
PWK/PhJ MGP_PWKPhJ_G0032343
protein coding gene Chr8:53753940-53758261 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032179
protein coding gene Chr8:55359850-55365914 (+)
WSB/EiJ MGP_WSBEiJ_G0032751
protein coding gene Chr8:56731369-56734880 (+)



Homology
more
  • Human Ortholog
    HAND2, heart and neural crest derivatives expressed 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    HAND2, heart and neural crest derivatives expressed 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    bHLHa26, dHand, DHAND2, Hed, Thing2
  • Links
    NCBI Gene ID: 9464
    neXtProt AC: NX_P61296
    UniProt: P61296

  • Chr Location
    4q34.1; chr4:173526501-173530227 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    119 phenotypes from 19 alleles in 19 genetic backgrounds
    42 phenotypes from multigenic genotypes
    3 images
    51 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous targeted null mutants have defects of the neural crest component of branchial and aortic arches and die from heart failure at embryonic day 10.5. Targeted branchial arch specific enhancer mutants show craniofacial defects and die perinatally.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 15111 NCBI Gene Model | MGI Sequence Detail 3535 C57BL/6J ±  kb
    transcript NM_010402 RefSeq | MGI Sequence Detail 2235 C57BL/6  
    polypeptide Q61039 UniProt | EBI | MGI Sequence Detail 217 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000008440 heart- and neural crest derivatives-expressed protein 2
    • InterPro Domains
      IPR036638 Helix-loop-helix DNA-binding domain superfamily
      IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
    Molecular
    Reagents
    less
    • All nucleic 60
      Genomic 3
      cDNA 20
      Primer pair 11
      Other 26

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-24465, MGD-MRK-25633, MGI:104305, MGI:2142483, MGI:2142607
    References
    more
    • Summaries
      All 334
      Developmental Gene Expression 272
      Gene Ontology 25
      Phenotypes 51
    • Earliest
      J:26206 Hollenberg SM, et al., Identification of a new family of tissue-specific basic helix-loop-helix proteins with a two-hybrid system. Mol Cell Biol. 1995 Jul;15(7):3813-22
    • Latest
      J:264204 Deimling SJ, et al., Genetic interaction between Gli3 and Ezh2 during limb pattern formation. Mech Dev. 2018 Jun;151:30-36

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory