Whsc1
Gene Detail

Symbol Name ID

Whsc1 Wolf-Hirschhorn syndrome candidate 1 (human) MGI:1276574

Synonyms

5830445G22Rik, 9430010A17Rik, C130020C13Rik, D030027O06Rik, D930023B08Rik, mKIAA1090, Whsc1l

Feature Type

protein coding gene

Genetic Map

Chromosome 5

17.83 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)

Sequence Map

Chr5:33820725-33897975 bp, + strand From VEGA annotation of GRCm38   77251 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:26175  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Whsc1

Human homologs

Human Homolog		WHSC1, Wolf-Hirschhorn syndrome candidate 1
NCBI Gene ID		7468
neXtProt AC		NX_O96028
Human Synonyms		MMSET, NSD2, REIIBP, TRX5, WHS
Human Chr (Location)		4p16.3; chr4:1873123-1983934 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human WHSC1

Alleles and phenotypes

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

Homozygous null mice display reduced fetal size, failed sternum ossification, cleft palate, atrial and ventricular septal defects, stunted growth and postnatal death. Some heterozygotes show severe growth defects, malocclusion, delayed sternum ossification and hypoplasia of the septum secundum.

 
Human Diseases Modeled Using Mouse Whsc1 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (23 annotations)

Process	atrial septum primum morphogenesis, atrial septum secundum morphogenesis, ...
Component	chromosome, nuclear membrane, ...
Function	chromatin binding, DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (7 records)
Data Summary: Results (123)    Tissues (112)    Images (13)
Theiler Stages: 17, 22, 23

Assay Type	Results
RNA in situ	123

cDNA source data(26)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(28) cDNA(27) Primer pair(1)
Microarray probesets(10)

Other database links

VEGA Gene Model	OTTMUSG00000025044 (Evidence)
Ensembl Gene Model	ENSMUSG00000057406 (Evidence)
Entrez Gene	107823 (Evidence)
DFCI	TC1579470, TC1600877, TC1601185, TC1601890, TC1625333, TC1637769, TC1647439, TC1659447
NIA Mouse Gene Index	U133579, U271571
EC	2.1.1.43
Consensus CDS Project	CCDS51467.1, CCDS51468.1
International Mouse Knockout Project Status	Whsc1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000025044	VEGA Gene Model | MGI Sequence Detail	77251	C57BL/6J
transcript	OTTMUST00000061620	VEGA | MGI Sequence Detail	7142	Not Applicable
polypeptide	OTTMUSP00000030262	VEGA | MGI Sequence Detail	1366	Not Applicable

All sequences(104) RefSeq(7) UniProt(9)

Polymorphisms

SNPs(178 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR006560	AWS
InterPro	IPR009071	High mobility group, superfamily
InterPro	IPR003616	Post-SET domain
InterPro	IPR000313	PWWP
InterPro	IPR001214	SET domain
InterPro	IPR011011	Zinc finger, FYVE/PHD-type
InterPro	IPR019787	Zinc finger, PHD-finger
InterPro	IPR001965	Zinc finger, PHD-type
InterPro	IPR019786	Zinc finger, PHD-type, conserved site
InterPro	IPR013083	Zinc finger, RING/FYVE/PHD-type
InterPro	IPR001841	Zinc finger, RING-type
Protein Ontology	PR:000030426	probable histone-lysine N-methyltransferase NSD2

References

(Earliest) J:48436 Stec I, et al., WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma [published erratum appears in HumMol Genet 1998 Sep;7(9):1527]. Hum Mol Genet. 1998 Jul;7(7):1071-82
(Latest) J:191725 Pei H, et al., The Histone Methyltransferase MMSET Regulates Class Switch Recombination. J Immunol. 2013 Jan 15;190(2):756-63
All references(39)

Other accession IDs

MGI:1923296, MGI:1924531, MGI:2141235, MGI:2442003, MGI:2442363, MGI:2443975