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Sh3pxd2b Gene Detail
Summary
  • Symbol
    Sh3pxd2b
  • Name
    SH3 and PX domains 2B
  • Synonyms
    Fad49, G431001E03Rik, Tsk4
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442062
    NCBI Gene: 268396
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr11:32347820-32428173 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      80354 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 18.89 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SH3PXD2B, SH3 and PX domains 2B
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SH3PXD2B, SH3 and PX domains 2B
    Orthology source: HomoloGene, HGNC
  • Synonyms
    FAD49, FTHS, HOFI, KIAA1295, TKS4, TSK4
  • Links
    NCBI Gene ID: 285590
    neXtProt AC: NX_A1X283
    UniProt: A1X283

  • Chr Location
    5q35.1; chr5:172325181-172454523 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Sh3pxd2b mouse models

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    59 phenotypes from 3 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    4 images
    14 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 homozygous for a spontaneous mutation exhibit abnormal craniofacial morphology, decreased bone density, impaired hearing secondary to otis media, reduced growth, size, and weight, and decreased white adipose tissue.
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
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
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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000005375 VEGA Gene Model | MGI Sequence Detail 80354 C57BL/6J ±  kb
    transcript OTTMUST00000011988 VEGA | MGI Sequence Detail 7413 Not Applicable  
    polypeptide OTTMUSP00000005550 VEGA | MGI Sequence Detail 908 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      666 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 71
      cDNA 70
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 39
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 9
      Phenotypes 14
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:235640 Dulk M, et al., The scaffold protein Tks4 is required for the differentiation of mesenchymal stromal cells (MSCs) into adipogenic and osteogenic lineages. Sci Rep. 2016 Oct 06;6:34280

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory