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Sh3pxd2a Gene Detail
Summary
  • Symbol
    Sh3pxd2a
  • Name
    SH3 and PX domains 2A
  • Synonyms
    2310014D11Rik, Fish, Sh3md1, Tks5
  • Feature Type
    protein coding gene
  • IDs
    MGI:1298393
    NCBI Gene: 14218
  • Alliance
    gene page
  • Transcription Start Sites
    26 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:47248613-47452840 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 39.45 cM, cytoband D2
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6559 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1298393
 protein coding gene Chr19:47248613-47453053 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025229
 protein coding gene Chr19:47057854-47280165 (-)
A/J MGP_AJ_G0025205
 protein coding gene Chr19:44700491-44907820 (-)
AKR/J MGP_AKRJ_G0025174
 protein coding gene Chr19:46160770-46375277 (-)
BALB/cJ MGP_BALBcJ_G0025200
 protein coding gene Chr19:44759823-44967352 (-)
C3H/HeJ MGP_C3HHeJ_G0024960
 protein coding gene Chr19:46349587-46562729 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025643
 protein coding gene Chr19:48192796-48409718 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023056
 protein coding gene Chr19:43939554-44142556 (-)
CAST/EiJ MGP_CASTEiJ_G0024425
 protein coding gene Chr19:46154691-46381366 (-)
CBA/J MGP_CBAJ_G0024940
 protein coding gene Chr19:50629783-50855696 (-)
DBA/2J MGP_DBA2J_G0025072
 protein coding gene Chr19:44510955-44719140 (-)
FVB/NJ MGP_FVBNJ_G0025033
 protein coding gene Chr19:44310606-44520575 (-)
LP/J MGP_LPJ_G0025158
 protein coding gene Chr19:46947009-47168339 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025064
 protein coding gene Chr19:49902386-50117149 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025701
 protein coding gene Chr19:46283927-46494867 (-)
PWK/PhJ MGP_PWKPhJ_G0024174
 protein coding gene Chr19:44481304-44690309 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023977
 protein coding gene Chr19:44937329-45151303 (-)
WSB/EiJ MGP_WSBEiJ_G0024495
 protein coding gene Chr19:46443274-46655399 (-)



Homology
more
  • Human Ortholog
    SH3PXD2A, SH3 and PX domains 2A
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SH3PXD2A, SH3 and PX domains 2A
  • Synonyms
    FISH, SH3MD1, TKS5
  • Links
    NCBI Gene ID: 9644
    neXtProt AC: NX_Q5TCZ1
    UniProt: Q5TCZ1

  • Chr Location
    10q24.33; chr10:103594027-103855584 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    123 phenotypes from 2 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    17 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 disruption of this gene results in high neonatal lethality associated with a complete cleft of the secondary palate.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    8
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
membraneless 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
    804
  • Tissues
    16
  • cDNA Data
    98
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000053617 Ensembl Gene Model | MGI Sequence Detail 204228 C57BL/6J ±  kb
    transcript ENSMUST00000081619 Ensembl | MGI Sequence Detail 10454 Not Applicable  
    polypeptide ENSMUSP00000080325 Ensembl | MGI Sequence Detail 1124 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 99
      cDNA 99

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1916883, MGI:2147453, MGI:2147494, MGI:2147516, MGI:3647497
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 3
      Gene Ontology 8
      Phenotypes 17
    • Earliest
      J:49136 Lock P, et al., A new method for isolating tyrosine kinase substrates used to identify fish, an SH3 and PX domain-containing protein, and Src substrate. EMBO J. 1998 Aug 3;17(15):4346-57
    • Latest
      J:350444 Martinez-Mayer J, et al., Knockout mice with pituitary malformations help identify human cases of hypopituitarism. Genome Med. 2024 May 31;16(1):75
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory