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Sh3pxd2b Gene Detail
Summary
  • Symbol
    Sh3pxd2b
  • Name
    SH3 and PX domains 2B
  • Synonyms
    Fad49, G431001E03Rik, Tks4
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442062
    NCBI Gene: 268396
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:32297820-32378173 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • 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 Chr11:32297777-32378189 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SH3PXD2B, SH3 and PX domains 2B
  • Synonyms
    FAD49, FTHS, HOFI, KIAA1295, TKS4, TSK4
  • Links
    NCBI Gene ID: 285590
    neXtProt AC: NX_A1X283
    UniProt: A1X283

  • Chr Location
    5q35.1; chr5:172325000-172454525 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Sh3pxd2b mouse models; 1 with human SH3PXD2B associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
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
    84 phenotypes from 3 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    4 images
    20 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.
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
    36
  • GO References
    9
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
non-membrane-bounded 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
    784
  • Tissues
    27
  • cDNA Data
    72
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040711 Ensembl Gene Model | MGI Sequence Detail 80354 C57BL/6J ±  kb
    transcript ENSMUST00000239041 Ensembl | MGI Sequence Detail 7497 Not Applicable  
    polypeptide ENSMUSP00000158896 Ensembl | MGI Sequence Detail 936 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 45
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 9
      Phenotypes 20
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:325163 Daniel S, et al., Effect of ocular hypertension on the pattern of retinal ganglion cell subtype loss in a mouse model of early-onset glaucoma. Exp Eye Res. 2019 Aug;185:107703
    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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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory