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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

HCOP human homology predictions: SH3PXD2B
Gene Tree: Sh3pxd2b

Human
homologs
SH3PXD2B, SH3 and PX domains 2B
Orthology source: HGNC, HomoloGene

IDs:
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.p2

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 in Mice Using Sh3pxd2b (2)    Mutations Annotated to Human Diseases (2)   
Interactions
Sh3pxd2b interacts with 376 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)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 78
cDNA source data(70)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase sh3pxd2b ; ZFIN sh3pxd2b    NEW 
Molecular
reagents
All nucleic(71) cDNA(70) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000005375 (Evidence)
Ensembl Gene Model ENSMUSG00000040711 (Evidence)
Entrez Gene 268396 (Evidence)
UniGene 227616
DFCI TC1576335, TC1589878, TC1623141, TC1641971
DoTS DT.101176803, DT.101259296, DT.40166855, DT.529873, DT.94155975, DT.97414709, DT.99856471
NIA Mouse Gene Index U012439
Consensus CDS Project CCDS24526.1
International Mouse Phenotyping Consortium Status Sh3pxd2b
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 IPR030512 SH3 and PX domain-containing protein 2B
InterPro IPR001452 SH3 domain
InterPro IPR011511 Variant SH3 domain
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:223062 Palmer K, et al., Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. Dev Biol. 2015 Jul 30;
All references(35)
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
08/25/2015
MGI 6.0
The Jackson Laboratory