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WHSC1

GENERAL INFORMATION

Gene name

 WHSC1

Gene description

 Wolf-Hirschhorn syndrome candidate 1

Protein class

 Cancer-related genes
Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 14
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General nuclear expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 3 antibodies.
HPA015801 , CAB068246 , CAB068247
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Esophagus

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

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 83.38)

Entrez gene

 7468

UniProt

 O96028 (UniProt - Evidence at protein level)

neXtProt

 NX_O96028

Antibodypedia

 WHSC1 antibodies

PROTEIN BROWSER
«
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

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
WHSC1-004
ENSP00000425761
ENST00000503128
O96028 [Direct mapping]
Histone-lysine N-methyltransferase NSD2
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0009653 [anatomical structure morphogenesis]
GO:0042799 [histone methyltransferase activity (H4-K20 specific)]
Show all
 647 aa
71.4 kDa 		No 0
WHSC1-005
ENSP00000372344
ENST00000382888
O96028 [Direct mapping]
Histone-lysine N-methyltransferase NSD2
Show all
Enzymes
   ENZYME proteins
   Transferases
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0009653 [anatomical structure morphogenesis]
GO:0018024 [histone-lysine N-methyltransferase activity]
GO:0042799 [histone methyltransferase activity (H4-K20 specific)]
Show all
 713 aa
80.8 kDa 		No 0
WHSC1-006
ENSP00000399251
ENST00000420906
O96028 [Direct mapping]
Histone-lysine N-methyltransferase NSD2
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0009653 [anatomical structure morphogenesis]
GO:0042799 [histone methyltransferase activity (H4-K20 specific)]
Show all
 629 aa
69.4 kDa 		No 0
WHSC1-008
ENSP00000372351
ENST00000382895
O96028 [Direct mapping]
Histone-lysine N-methyltransferase NSD2
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000724 [double-strand break repair via homologous recombination]
GO:0003149 [membranous septum morphogenesis]
GO:0003289 [atrial septum primum morphogenesis]
GO:0003290 [atrial septum secundum morphogenesis]
GO:0003682 [chromatin binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0009653 [anatomical structure morphogenesis]
GO:0010452 [histone H3-K36 methylation]
GO:0016568 [chromatin modification]
GO:0018024 [histone-lysine N-methyltransferase activity]
GO:0034770 [histone H4-K20 methylation]
GO:0042799 [histone methyltransferase activity (H4-K20 specific)]
GO:0043565 [sequence-specific DNA binding]
GO:0048298 [positive regulation of isotype switching to IgA isotypes]
GO:0060348 [bone development]
GO:0070201 [regulation of establishment of protein localization]
GO:2001032 [regulation of double-strand break repair via nonhomologous end joining]
Show all
 1365 aa
152.3 kDa 		No 0
WHSC1-010
ENSP00000421681
ENST00000514045
O96028 [Direct mapping]
Histone-lysine N-methyltransferase NSD2
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0009653 [anatomical structure morphogenesis]
GO:0042799 [histone methyltransferase activity (H4-K20 specific)]
Show all
 629 aa
69.4 kDa 		No 0
WHSC1-011
ENSP00000423972
ENST00000508803
O96028 [Direct mapping]
Histone-lysine N-methyltransferase NSD2
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0009653 [anatomical structure morphogenesis]
GO:0018024 [histone-lysine N-methyltransferase activity]
GO:0042799 [histone methyltransferase activity (H4-K20 specific)]
Show all
 1365 aa
152.3 kDa 		No 0
WHSC1-013
ENSP00000421551
ENST00000507820
D6RFE7 [Direct mapping]
Histone-lysine N-methyltransferase NSD2
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
 37 aa
4 kDa 		No 0
WHSC1-014
ENSP00000427434
ENST00000515806
D6RIS1 [Direct mapping]
Histone-lysine N-methyltransferase NSD2
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
Show all
 199 aa
21.7 kDa 		No 0
WHSC1-015
ENSP00000422878
ENST00000509115
D6R9V2 [Direct mapping]
Histone-lysine N-methyltransferase NSD2
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
Show all
 392 aa
43.2 kDa 		No 0
WHSC1-024
ENSP00000425094
ENST00000514329
H0Y9U6 [Direct mapping]
Histone-lysine N-methyltransferase NSD2
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0008270 [zinc ion binding]
Show all
 284 aa
31.2 kDa 		No 0
WHSC1-201
ENSP00000372347
ENST00000382891
O96028 [Direct mapping]
Histone-lysine N-methyltransferase NSD2
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0009653 [anatomical structure morphogenesis]
GO:0018024 [histone-lysine N-methyltransferase activity]
GO:0042799 [histone methyltransferase activity (H4-K20 specific)]
Show all
 1365 aa
152.3 kDa 		No 0
WHSC1-202
ENSP00000372348
ENST00000382892
O96028 [Direct mapping]
Histone-lysine N-methyltransferase NSD2
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0009653 [anatomical structure morphogenesis]
GO:0018024 [histone-lysine N-methyltransferase activity]
GO:0042799 [histone methyltransferase activity (H4-K20 specific)]
Show all
 1365 aa
152.3 kDa 		No 0
WHSC1-203
ENSP00000381311
ENST00000398261
O96028 [Direct mapping]
Histone-lysine N-methyltransferase NSD2
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0009653 [anatomical structure morphogenesis]
GO:0042799 [histone methyltransferase activity (H4-K20 specific)]
Show all
 647 aa
71.4 kDa 		No 0
WHSC1-204
ENSP00000416725
ENST00000436793
O96028 [Direct mapping]
Histone-lysine N-methyltransferase NSD2
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Transcription factors
   Other all-alpha-helical DNA-binding domains
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0009653 [anatomical structure morphogenesis]
GO:0042799 [histone methyltransferase activity (H4-K20 specific)]
Show all
 273 aa
30.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.