About   Help   FAQ
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
Location & Maps
more
  • Sequence Map
    Chr7:25680780-25686558 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5779 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 13.97 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    B9D2, B9 protein domain 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    B9D2, B9 protein domain 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ICIS-1, MKS10, MKSR2
  • Links
    NCBI Gene ID: 80776
    neXtProt AC: NX_Q9BPU9

  • Chr Location
    19q13.2; chr19:41354417-41364540 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 12733
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: B9D2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human B9D2 associations

Human Disease Mouse Models
       Meckel Syndrome, Type 10; MKS10   OMIM: 614175
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 2 alleles in 7 genetic backgrounds
    15 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.
  • All Mutations and Alleles
    10
  • Gene trapped
    7
  • Targeted
    3
  • Incidental Mutations
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
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000058397 VEGA Gene Model | MGI Sequence Detail 5779 C57BL/6J ±  kb
transcript OTTMUST00000143436 VEGA | MGI Sequence Detail 1021 Not Applicable  
polypeptide OTTMUSP00000074780 VEGA | MGI Sequence Detail 175 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    12 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000004612 B9 domain-containing protein 2
  • InterPro Domains
    IPR010796 B9 domain
Molecular
Reagents
less
  • All nucleic 4
    cDNA 4

    Microarray probesets 2
References
more
  • Summaries
    All 35
    Developmental Gene Expression 1
    Gene Ontology 5
    Phenotypes 15
  • 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:225575 Linehan JL, et al., Generation of Th17 cells in response to intranasal infection requires TGF-beta1 from dendritic cells and IL-6 from CD301b+ dendritic cells. Proc Natl Acad Sci U S A. 2015 Oct 13;112(41):12782-7

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/19/2016
MGI 6.04
The Jackson Laboratory