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MSH6

GENERAL INFORMATION

Gene name

 MSH6

Gene description

 MutS homolog 6

Protein class

 Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 10
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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

 Nuclear expression in most tissues, distinct expression in testis, lymphoid tissues and placenta.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability score

 Supported based on 3 antibodies.
HPA028376 , HPA028446 , CAB009091
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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

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

 MSH6 (HGNC Symbol)

Synonyms

 GTBP

Description

 MutS homolog 6 (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]

Chromosome

 2

Cytoband

 p16.3

Chromosome location (bp)

 47695530 - 47810101

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000116062 (version 83.38)

Entrez gene

 2956

UniProt

 P52701 (UniProt - Evidence at protein level)

neXtProt

 NX_P52701

Antibodypedia

 MSH6 antibodies

PROTEIN BROWSER
MSH6-001
MSH6-004
MSH6-005
MSH6-006
MSH6-008
MSH6-201
MSH6-202
MSH6-203
MSH6-204
MSH6-205

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MSH6-001
ENSP00000234420
ENST00000234420
P52701 [Direct mapping]
DNA mismatch repair protein Msh6
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000287 [magnesium ion binding]
GO:0000400 [four-way junction DNA binding]
GO:0000710 [meiotic mismatch repair]
GO:0000790 [nuclear chromatin]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003684 [damaged DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0006281 [DNA repair]
GO:0006298 [mismatch repair]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0008340 [determination of adult lifespan]
GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage]
GO:0009411 [response to UV]
GO:0016032 [viral process]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0016447 [somatic recombination of immunoglobulin gene segments]
GO:0016887 [ATPase activity]
GO:0030983 [mismatched DNA binding]
GO:0032137 [guanine/thymine mispair binding]
GO:0032142 [single guanine insertion binding]
GO:0032143 [single thymine insertion binding]
GO:0032301 [MutSalpha complex]
GO:0032357 [oxidized purine DNA binding]
GO:0032405 [MutLalpha complex binding]
GO:0035064 [methylated histone binding]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043531 [ADP binding]
GO:0045190 [isotype switching]
GO:0045830 [positive regulation of isotype switching]
GO:0045910 [negative regulation of DNA recombination]
GO:0051096 [positive regulation of helicase activity]
GO:0097193 [intrinsic apoptotic signaling pathway]
Show all
 1360 aa
152.8 kDa 		No 0
MSH6-004
ENSP00000397484
ENST00000455383
C9J8Y8 [Direct mapping]
DNA mismatch repair protein Msh6
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000710 [meiotic mismatch repair]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage]
GO:0009411 [response to UV]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0045190 [isotype switching]
Show all
 116 aa
13.5 kDa 		No 0
MSH6-005
ENSP00000390382
ENST00000420813
C9JH55 [Direct mapping]
DNA mismatch repair protein Msh6
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000710 [meiotic mismatch repair]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage]
GO:0009411 [response to UV]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0045190 [isotype switching]
Show all
 101 aa
11.7 kDa 		No 0
MSH6-006
ENSP00000406248
ENST00000411819
C9J7Y7 [Direct mapping]
DNA mismatch repair protein Msh6
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000710 [meiotic mismatch repair]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage]
GO:0009411 [response to UV]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0045190 [isotype switching]
Show all
 151 aa
17.6 kDa 		No 0
MSH6-008
ENSP00000475605
ENST00000606499
U3KQ72 [Direct mapping]
DNA mismatch repair protein Msh6
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000710 [meiotic mismatch repair]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage]
GO:0009411 [response to UV]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0045190 [isotype switching]
Show all
 51 aa
6.1 kDa 		No 0
MSH6-201
ENSP00000438580
ENST00000538136
P52701 [Direct mapping]
DNA mismatch repair protein Msh6
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000287 [magnesium ion binding]
GO:0000400 [four-way junction DNA binding]
GO:0000710 [meiotic mismatch repair]
GO:0003690 [double-stranded DNA binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0006281 [DNA repair]
GO:0006298 [mismatch repair]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0008340 [determination of adult lifespan]
GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage]
GO:0009411 [response to UV]
GO:0016032 [viral process]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0016447 [somatic recombination of immunoglobulin gene segments]
GO:0016887 [ATPase activity]
GO:0030983 [mismatched DNA binding]
GO:0032137 [guanine/thymine mispair binding]
GO:0032142 [single guanine insertion binding]
GO:0032143 [single thymine insertion binding]
GO:0032301 [MutSalpha complex]
GO:0032357 [oxidized purine DNA binding]
GO:0032405 [MutLalpha complex binding]
GO:0035064 [methylated histone binding]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043531 [ADP binding]
GO:0045190 [isotype switching]
GO:0045910 [negative regulation of DNA recombination]
GO:0051096 [positive regulation of helicase activity]
GO:0097193 [intrinsic apoptotic signaling pathway]
Show all
 1058 aa
119.8 kDa 		No 0
MSH6-202
ENSP00000446475
ENST00000540021
P52701 [Direct mapping]
DNA mismatch repair protein Msh6
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000287 [magnesium ion binding]
GO:0000400 [four-way junction DNA binding]
GO:0000710 [meiotic mismatch repair]
GO:0003690 [double-stranded DNA binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0006281 [DNA repair]
GO:0006298 [mismatch repair]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0008340 [determination of adult lifespan]
GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage]
GO:0009411 [response to UV]
GO:0016032 [viral process]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0016447 [somatic recombination of immunoglobulin gene segments]
GO:0016887 [ATPase activity]
GO:0030983 [mismatched DNA binding]
GO:0032137 [guanine/thymine mispair binding]
GO:0032142 [single guanine insertion binding]
GO:0032143 [single thymine insertion binding]
GO:0032301 [MutSalpha complex]
GO:0032357 [oxidized purine DNA binding]
GO:0032405 [MutLalpha complex binding]
GO:0035064 [methylated histone binding]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043531 [ADP binding]
GO:0045190 [isotype switching]
GO:0045910 [negative regulation of DNA recombination]
GO:0051096 [positive regulation of helicase activity]
GO:0097193 [intrinsic apoptotic signaling pathway]
Show all
 1230 aa
138 kDa 		No 0
MSH6-203
ENSP00000477844
ENST00000614496
P52701 [Direct mapping]
DNA mismatch repair protein Msh6
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000287 [magnesium ion binding]
GO:0000400 [four-way junction DNA binding]
GO:0000710 [meiotic mismatch repair]
GO:0003690 [double-stranded DNA binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0006281 [DNA repair]
GO:0006298 [mismatch repair]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0008340 [determination of adult lifespan]
GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage]
GO:0009411 [response to UV]
GO:0016032 [viral process]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0016447 [somatic recombination of immunoglobulin gene segments]
GO:0016887 [ATPase activity]
GO:0030983 [mismatched DNA binding]
GO:0032137 [guanine/thymine mispair binding]
GO:0032142 [single guanine insertion binding]
GO:0032143 [single thymine insertion binding]
GO:0032301 [MutSalpha complex]
GO:0032357 [oxidized purine DNA binding]
GO:0032405 [MutLalpha complex binding]
GO:0035064 [methylated histone binding]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043531 [ADP binding]
GO:0045190 [isotype switching]
GO:0045910 [negative regulation of DNA recombination]
GO:0051096 [positive regulation of helicase activity]
GO:0097193 [intrinsic apoptotic signaling pathway]
Show all
 1058 aa
119.8 kDa 		No 0
MSH6-204
ENSP00000480261
ENST00000616033
A0A087WWJ1 [Direct mapping]
DNA mismatch repair protein Msh6
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000710 [meiotic mismatch repair]
GO:0005524 [ATP binding]
GO:0006298 [mismatch repair]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage]
GO:0009411 [response to UV]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0030983 [mismatched DNA binding]
GO:0045190 [isotype switching]
Show all
 1067 aa
121.1 kDa 		No 0
MSH6-205
ENSP00000482078
ENST00000622629
A0A087WYT6 [Direct mapping]
DNA mismatch repair protein Msh6
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000710 [meiotic mismatch repair]
GO:0005524 [ATP binding]
GO:0006298 [mismatch repair]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage]
GO:0009411 [response to UV]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0030983 [mismatched DNA binding]
GO:0045190 [isotype switching]
Show all
 327 aa
36.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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