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Sh3pxd2b
Gene Detail
 Symbol
Name
ID
Sh3pxd2b
SH3 and PX domains 2B
MGI:2442062
Synonyms Fad49, G431001E03Rik, Tsk4
Feature Type protein coding gene
Genetic Map
Chromosome 11
18.89 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr11:32347820-32428173 bp, + strand
From VEGA annotation of GRCm38

  80354 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:27952  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Sh3pxd2b

Human
homologs
Human Homolog SH3PXD2B, SH3 and PX domains 2B
NCBI Gene ID 285590
neXtProt AC  NX_A1X283
Human Synonyms  FAD49, FTHS, HOFI, KIAA1295, TKS4, TSK4
Human Chr (Location)  5q35.1; chr5:172325181-172454523 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human SH3PXD2B
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(2) Spontaneous(1) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Sh3pxd2b (2)    Alleles Annotated to Human Diseases(2)   
Interactions
Sh3pxd2b interacts with 377 markers (Mir7-1, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process adipose tissue development, bone development, ...
Component cell junction, cell projection, ...
Function phosphatidylinositol-3,5-bisphosphate binding, phosphatidylinositol-3-phosphate binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (78)    Tissues (27)    Images (23)
Theiler Stages: 15, 17, 19, 20, 22, 23, 24, 26
Assay TypeResults
RNA in situ 78
cDNA source data(70)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(71) cDNA(70) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000005375 (Evidence)
Ensembl Gene ModelENSMUSG00000040711 (Evidence)
Entrez Gene268396 (Evidence)
UniGene227616
DFCITC1576335, TC1589878, TC1623141, TC1641971
DoTSDT.101176803, DT.101259296, DT.40166855, DT.529873, DT.94155975, DT.97414709, DT.99856471
NIA Mouse Gene IndexU012439
Consensus CDS ProjectCCDS24526.1
International Mouse Knockout Project StatusSh3pxd2b
Sequences
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 sequences
All sequences(52) RefSeq(4) UniProt(6)
Polymorphisms SNPs within 2kb(669 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001683 Phox homologous domain
InterPro IPR001452 Src homology-3 domain
InterPro IPR011511 Variant SH3
Protein Ontology PR:000014830 SH3 and PX domain-containing protein 2B
References (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:175853 Yang B, et al., Sh3pxd2b mice are a model for craniofacial dysmorphology and otitis media. PLoS One. 2011;6(7):e22622
All references(36)
Disease annotation references (2)

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
09/09/2014
MGI 5.19
The Jackson Laboratory