WHSC1

GENE INFORMATION

? »

Gene name

WHSC1 (HGNC Symbol)

Synonyms

MMSET, NSD2

Description

Wolf-Hirschhorn syndrome candidate 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]

Chromosome

4

Cytoband

p16.3

Chromosome location (bp)

1871424 - 1982207

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000109685 (version 78.38)

Entrez gene

7468

UniProt

O96028 (UniProt - Evidence at protein level)

neXtProt

NX_O96028

Antibodypedia

WHSC1 antibodies
 

PROTEIN VIEW

? »
 
 
 « 
 
WHSC1-004
 
WHSC1-005
 
WHSC1-006
 
WHSC1-008
 
WHSC1-010
 
WHSC1-011
 
WHSC1-013
 
WHSC1-014
 
WHSC1-015
 
WHSC1-024
 
WHSC1-201
 
WHSC1-202
 
WHSC1-203
 
WHSC1-204
 
 » 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

WHSC1-004 ENSP00000425761
ENST00000503128
O96028
Show all »
Show » Show » 647 71.4 No 0
WHSC1-005 ENSP00000372344
ENST00000382888
O96028
Show all »
Show » Show » 713 80.8 No 0
WHSC1-006 ENSP00000399251
ENST00000420906
O96028
Show all »
Show » Show » 629 69.4 No 0
WHSC1-008 ENSP00000372351
ENST00000382895
O96028
Show all »
Show » Show » 1365 152.3 No 0
WHSC1-010 ENSP00000421681
ENST00000514045
O96028
Show all »
Show » Show » 629 69.4 No 0
WHSC1-011 ENSP00000423972
ENST00000508803
O96028
Show all »
Show » Show » 1365 152.3 No 0
WHSC1-013 ENSP00000421551
ENST00000507820
D6RFE7
Show all »
Show » 37 4 No 0
WHSC1-014 ENSP00000427434
ENST00000515806
D6RIS1
Show all »
Show » Show » 199 21.7 No 0
WHSC1-015 ENSP00000422878
ENST00000509115
D6R9V2
Show all »
Show » Show » 392 43.2 No 0
WHSC1-024 ENSP00000425094
ENST00000514329
Show » Show » 284 31.2 No 0
WHSC1-201 ENSP00000372347
ENST00000382891
O96028
Show all »
Show » Show » 1365 152.3 No 0
WHSC1-202 ENSP00000372348
ENST00000382892
O96028
Show all »
Show » Show » 1365 152.3 No 0
WHSC1-203 ENSP00000381311
ENST00000398261
O96028
Show all »
Show » Show » 647 71.4 No 0
WHSC1-204 ENSP00000416725
ENST00000436793
O96028
Show all »
Show » Show » 273 30.2 No 0