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Nhlh2 Gene Detail
Summary
  • Symbol
    Nhlh2
  • Name
    nescient helix loop helix 2
  • Synonyms
    6230401I09Rik, bHLHa34, Hen2, Nscl-2, NSCL2
  • Feature Type
    protein coding gene
  • IDs
    MGI:97324
    NCBI Gene: 18072
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:101917425-101922808 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 44.30 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    198 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97324
 protein coding gene Chr3:101917392-101922808 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027679
 protein coding gene Chr3:103226669-103232102 (+)
A/J MGP_AJ_G0027638
 protein coding gene Chr3:99936140-99941570 (+)
AKR/J MGP_AKRJ_G0027604
 protein coding gene Chr3:102414784-102420220 (+)
BALB/cJ MGP_BALBcJ_G0027651
 protein coding gene Chr3:99696862-99702292 (+)
C3H/HeJ MGP_C3HHeJ_G0027380
 protein coding gene Chr3:102703938-102709362 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028094
 protein coding gene Chr3:107028682-107034098 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025435
 protein coding gene Chr3:96130857-96136197 (+)
CAST/EiJ MGP_CASTEiJ_G0026836
 protein coding gene Chr3:101820066-101825495 (+)
CBA/J MGP_CBAJ_G0027355
 protein coding gene Chr3:110692757-110698181 (+)
DBA/2J MGP_DBA2J_G0027498
 protein coding gene Chr3:99183101-99188520 (+)
FVB/NJ MGP_FVBNJ_G0027466
 protein coding gene Chr3:97120730-97126166 (+)
LP/J MGP_LPJ_G0027605
 protein coding gene Chr3:104568977-104574404 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027496
 protein coding gene Chr3:116843316-116848731 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028149
 protein coding gene Chr3:101911822-101917237 (+)
PWK/PhJ MGP_PWKPhJ_G0026563
 protein coding gene Chr3:98947017-98952452 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026385
 protein coding gene Chr3:99995171-100000639 (+)
WSB/EiJ MGP_WSBEiJ_G0026916
 protein coding gene Chr3:102465319-102470737 (+)



Homology
more
  • Human Ortholog
    NHLH2, nescient helix-loop-helix 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NHLH2, nescient helix-loop-helix 2
  • Synonyms
    bHLHa34, HEN2, HH27, NSCL2
  • Links
    NCBI Gene ID: 4808
    neXtProt AC: NX_Q02577
    UniProt: Q02577

  • Chr Location
    1p13.1; chr1:115831344-115843917 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human NHLH2 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    81 phenotypes from 5 alleles in 10 genetic backgrounds
    12 phenotypes from multigenic genotypes
    27 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.
Loss of function results in adult-onset obesity and reproductive defects, including hypogonadism, due to disruption of the hypothalamic-pituitary axis. Mutant male mice are sterile, whereas female mice show variable fertility dependent on the presence orabsence of male mice.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    21
  • GO References
    12
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
membraneless 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
    1047
  • Tissues
    201
  • cDNA Data
    26
  • Literature Summary
    50
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18072 NCBI Gene Model | MGI Sequence Detail 5384 C57BL/6J ±  kb
    transcript NM_178777 RefSeq | MGI Sequence Detail 2568 C57BL/6  
    polypeptide Q64221 UniProt | EBI | MGI Sequence Detail 135 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 35
      Genomic 2
      cDNA 29
      Primer pair 2
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-12843, MGI:2443536
    References
    more
    • Summaries
      All 101
      Developmental Gene Expression 50
      Diseases 1
      Gene Ontology 12
      Phenotypes 27
    • Earliest
      J:2496 Brown L, et al., HEN1 and HEN2: a subgroup of basic helix-loop-helix genes that are coexpressed in a human neuroblastoma. Proc Natl Acad Sci U S A. 1992 Sep 15;89(18):8492-6
    • Latest
      J:348685 Masuda A, et al., A global gene regulatory program and its region-specific regulator partition neurons into commissural and ipsilateral projection types. Sci Adv. 2024 May 24;10(21):eadk2149
    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
    11/05/2024
    MGI 6.24     		The Jackson Laboratory