Gdf2 MGI Mouse Gene Detail - MGI:1321394 - growth differentiation factor 2

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Gdf2 Gene Detail
Summary
  • Symbol
    Gdf2
  • Name
    growth differentiation factor 2
  • Synonyms
    Bmp9
  • Feature Type
    protein coding gene
  • IDs
    MGI:1321394
    NCBI Gene: 12165
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:33662996-33669155 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 14, 20.80 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    306 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1321394
protein coding gene Chr14:33662996-33669155 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021160
protein coding gene Chr14:27273040-27280270 (+)
A/J MGP_AJ_G0021108
protein coding gene Chr14:26218115-26224272 (+)
AKR/J MGP_AKRJ_G0021085
protein coding gene Chr14:27380309-27388480 (+)
BALB/cJ MGP_BALBcJ_G0021112
protein coding gene Chr14:26402062-26408459 (+)
C3H/HeJ MGP_C3HHeJ_G0020895
protein coding gene Chr14:27285609-27292669 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021544
protein coding gene Chr14:28317417-28325365 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019106
protein coding gene Chr14:26256906-26263134 (+)
CAST/EiJ MGP_CASTEiJ_G0020420
protein coding gene Chr14:27116977-27123995 (+)
CBA/J MGP_CBAJ_G0020862
protein coding gene Chr14:29353703-29359843 (+)
DBA/2J MGP_DBA2J_G0020984
protein coding gene Chr14:26254936-26261066 (+)
FVB/NJ MGP_FVBNJ_G0020968
protein coding gene Chr14:26209008-26215117 (+)
LP/J MGP_LPJ_G0021053
protein coding gene Chr14:27608097-27615856 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020994
protein coding gene Chr14:28512518-28518611 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021577
protein coding gene Chr14:27210062-27217109 (+)
PWK/PhJ MGP_PWKPhJ_G0020168
protein coding gene Chr14:25746771-25753209 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019992
protein coding gene Chr14:26828667-26834995 (+)
WSB/EiJ MGP_WSBEiJ_G0020475
protein coding gene Chr14:27276831-27282924 (+)



Homology
more
  • Human Ortholog
    GDF2, growth differentiation factor 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GDF2, growth differentiation factor 2
  • Synonyms
    BMP-9, BMP9, HHT5
  • Links
    NCBI Gene ID: 2658
    UniProt: Q9UK05

  • Chr Location
    10q11.22; chr10:47322454-47327588 (+) GRCh38
Human Diseases
more
  • Diseases
    1 with human GDF2 associations

Human Disease Mouse Models
IDs
hereditary hemorrhagic telangiectasia

DOID:1270
ICD10CM:I78.0
ICD9CM:448.0
MESH:D013683
NCI:C35064
OMIM:187300
OMIM:600376
OMIM:615506
ORDO:774
UMLS_CUI:C0039445
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 3 alleles in 3 genetic backgrounds
    15 phenotypes from multigenic genotypes
    3 images
    23 phenotype references
Phenotype Overview

Phenotype Overview
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.
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.
Homozygotes for a null allele show arteriovenous malformations, skeletal anomalies, and abnormal retinal vasculature after anti-BMP10-antibody treatment. Homozygotes for a different null allele show abnormal retinal and tracheal vasculature and tracheal lymphatic vessels after anti-BMP10 treatment.
Gene Ontology
(GO)
Classifications
less
  • 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 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

Expression Overview
GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.
  • Blue cells = expressed in wild-type.
    Gray triangles = other expression annotations only
    (e.g. absence of expression or data from mutants).
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
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12165 NCBI Gene Model | MGI Sequence Detail 6160 C57BL/6J ± kb
    transcript NM_019506 RefSeq | MGI Sequence Detail 2988 C57BL/6
    polypeptide Q9WV56 UniProt | EBI | MGI Sequence Detail 428 Not Applicable
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      cDNA 10
      Primer pair 3
      Other 1

      Microarray probesets 2
    References
    more
    • Summaries
      All 88
      Developmental Gene Expression 14
      Gene Ontology 14
      Phenotypes 23
    • Earliest
      J:48647 Celeste AJ, et al., Bone morphogenetic protein-9, a new member of the TGF-beta superfamily. J Bone Miner Res. 1994;Suppl:S136 (Abstr. 64)
    • Latest
      J:373885 Zhao D, et al., GDF2 and BMP10 coordinate liver cellular crosstalk to maintain liver health. Elife. 2024 Oct 25;13
    TSS for Gdf2:
    (View these features in JBrowse)
    Transcription Start Site Location Distance from Gene 5'-end
    Tssr125050 Chr14:33662928-33662939 (+) -62 bp
    Tssr125051 Chr14:33662978-33663009 (+) -2 bp
    Tssr125052 Chr14:33663029-33663041 (+) 39 bp
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support. last database update
    10/07/2025
    MGI 6.24 The Jackson Laboratory
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