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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
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
Homology
more
  • Human Ortholog
    SH3PXD2B, SH3 and PX domains 2B
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SH3PXD2B, SH3 and PX domains 2B
    Orthology source: HGNC, HomoloGene
  • Synonyms
    FAD49, FTHS, HOFI, KIAA1295, TKS4, TSK4
  • Links
    NCBI Gene ID: 285590
    neXtProt AC: NX_A1X283

  • Chr Location
    5q35.1; chr5:172325181-172454523 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Sh3pxd2b mouse models; 1 with human SH3PXD2B associations

Human Disease Mouse Models
       Frank-Ter Haar Syndrome; FTHS   OMIM: 249420 View 1 model
       Otitis Media, Susceptibility to   OMIM: 166760 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    50 phenotypes from 2 alleles in 2 genetic backgrounds
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Spontaneous
    1
  • Targeted
    1
  • Genomic Mutations
    1 involving Sh3pxd2b
  • Incidental Mutations
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
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
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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
Interactions
less
Sequences &
Gene Models
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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
    669 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 71
    cDNA 70
    Other 1

    Microarray probesets 3
References
more
  • Summaries
    All 32
    Developmental Gene Expression 3
    Diseases 2
    Gene Ontology 7
    Phenotypes 11
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:223062 Palmer K, et al., Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. Dev Biol. 2015 Jul 30;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory