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 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 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; chr5:171760503-171881527 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SH3PXD2B

Alleles and phenotypes

All alleles(4) : Targeted(1) Gene trapped(2) Spontaneous(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (26 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 Type	Results
RNA in situ	78

cDNA source data(71)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(72) cDNA(71) 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 Knockout Project Status	Sh3pxd2b

Sequences

Length	Strain/Species
genomic	OTTMUSG00000005375	VEGA Gene Model | MGI Sequence Detail	80354	C57BL/6J
transcript	OTTMUST00000011988	VEGA | MGI Sequence Detail	7413	Not Applicable
polypeptide	OTTMUSP00000005550	VEGA | MGI Sequence Detail	908	Not Applicable

All sequences(50) RefSeq(2) UniProt(6)

Polymorphisms

SNPs(404 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)