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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
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:32347820-32428173 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 18.89 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    666 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442062
protein coding gene Chr11:32347773-32428183 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018134
protein coding gene Chr11:30567388-30653190 (+)
A/J MGP_AJ_G0018107
protein coding gene Chr11:29404017-29487116 (+)
AKR/J MGP_AKRJ_G0018071
protein coding gene Chr11:30336514-30420379 (+)
BALB/cJ MGP_BALBcJ_G0018076
protein coding gene Chr11:29598485-29680476 (+)
C3H/HeJ MGP_C3HHeJ_G0017889
protein coding gene Chr11:30280818-30362086 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018530
protein coding gene Chr11:31572685-31656922 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016185
protein coding gene Chr11:27930036-28010009 (+)
CAST/EiJ MGP_CASTEiJ_G0017452
protein coding gene Chr11:30315306-30402543 (+)
CBA/J MGP_CBAJ_G0017862
protein coding gene Chr11:33079757-33166228 (+)
DBA/2J MGP_DBA2J_G0017972
protein coding gene Chr11:29200568-29280788 (+)
FVB/NJ MGP_FVBNJ_G0017966
protein coding gene Chr11:29022623-29105940 (+)
LP/J MGP_LPJ_G0018044
protein coding gene Chr11:30824709-30914852 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017990
protein coding gene Chr11:34056691-34143170 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018569
protein coding gene Chr11:30469164-30553395 (+)
PWK/PhJ MGP_PWKPhJ_G0017234
protein coding gene Chr11:29355198-29436721 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017026
protein coding gene Chr11:30158256-30242838 (+)
WSB/EiJ MGP_WSBEiJ_G0017502
protein coding gene Chr11:30098113-30181329 (+)



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
    2 with Sh3pxd2b mouse models

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    82 phenotypes from 3 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    4 images
    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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous mutations of this gene result in decreased body size, pronounced craniofacial, skeletal and cardiac defects, and eye anomalies including anterior segment dysgenesis, corneal opacities and ocular hypertension.
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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 ENSMUSG00000040711 Ensembl Gene Model | MGI Sequence Detail 80354 C57BL/6J ±  kb
    transcript ENSMUST00000038753 Ensembl | MGI Sequence Detail 7413 Not Applicable  
    polypeptide ENSMUSP00000044276 Ensembl | MGI Sequence Detail 908 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 73
      cDNA 72
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 39
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 8
      Phenotypes 15
    • 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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    last database update
    08/13/2019
    MGI 6.14
    The Jackson Laboratory