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B9d2 Gene Detail
Summary
  • Symbol
    B9d2
  • Name
    B9 protein domain 2
  • Synonyms
    MGC:41256, stumpy
  • Feature Type
    protein coding gene
  • IDs
    MGI:2387643
    NCBI Gene: 232987
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:25380205-25385983 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 13.97 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    202 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2387643
 protein coding gene Chr7:25380205-25385987 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031875
 protein coding gene Chr7:24188592-24194369 (+)
A/J MGP_AJ_G0031854
 protein coding gene Chr7:23552882-23561619 (+)
AKR/J MGP_AKRJ_G0031783
 protein coding gene Chr7:24159568-24165346 (+)
BALB/cJ MGP_BALBcJ_G0031859
 protein coding gene Chr7:23795047-23800832 (+)
C3H/HeJ MGP_C3HHeJ_G0031580
 protein coding gene Chr7:24570580-24577743 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032323
 protein coding gene Chr7:25002362-25009617 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029378
 protein coding gene Chr7:24894889-24900905 (+)
CAST/EiJ MGP_CASTEiJ_G0030920
 protein coding gene Chr7:17984289-17990219 (+)
CBA/J MGP_CBAJ_G0031545
 protein coding gene Chr7:25877486-25886000 (+)
DBA/2J MGP_DBA2J_G0031699
 protein coding gene Chr7:23449920-23455714 (+)
FVB/NJ MGP_FVBNJ_G0031652
 protein coding gene Chr7:23481072-23487151 (+)
LP/J MGP_LPJ_G0031778
 protein coding gene Chr7:24466207-24471979 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031689
 protein coding gene Chr7:25610745-25616565 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032355
 protein coding gene Chr7:23800092-23805873 (+)
PWK/PhJ MGP_PWKPhJ_G0030644
 protein coding gene Chr7:18400510-18406369 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030474
 protein coding gene Chr7:15124002-15131357 (+)
WSB/EiJ MGP_WSBEiJ_G0031023
 protein coding gene Chr7:24019437-24025217 (+)



Homology
more
  • Human Ortholog
    B9D2, B9 domain containing 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    B9D2, B9 domain containing 2
  • Synonyms
    ICIS-1, JBTS34, MKS10, MKSR-2, MKSR2
  • Links
    NCBI Gene ID: 80776
    neXtProt AC: NX_Q9BPU9
    UniProt: Q9BPU9

  • Chr Location
    19q13.2; chr19:41354417-41364165 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human B9D2 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    116 phenotypes from 2 alleles in 6 genetic backgrounds
    23 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 carrying a targeted mutation of this gene exhibit preweaning lethality, hydrops fetalis, and abnormalities in craniofacial, limb, and eye development.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    8
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
    706
  • cDNA Data
    5
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000063439 Ensembl Gene Model | MGI Sequence Detail 5779 C57BL/6J ±  kb
    transcript ENSMUST00000108403 Ensembl | MGI Sequence Detail 1021 Not Applicable  
    polypeptide ENSMUSP00000104040 Ensembl | MGI Sequence Detail 175 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 5
      cDNA 5

      Microarray probesets 2
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 2
      Gene Ontology 8
      Phenotypes 23
    • Earliest
      J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
    • Latest
      J:359151 Riehl DR, et al., Reply to Chong et al.: Investigating TGFbeta1 biological activities using genetically engineered mouse strains. Proc Natl Acad Sci U S A. 2024 Oct 29;121(44):e2408647121
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory