Hs04715826_cn

• Gene Symbol: MSH2
• Assay Reference Genome Location: Chr.2:47404455 on build GRCh38
• Cytoband: 2p21

Target Gene Details

• Entrez Gene ID: 4436
• Gene Name: mutS homolog 2
• Gene Aliases: COCA1, FCC1, HNPCC, HNPCC1, LCFS2
• Location: Chr.2:47403067-47634501 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MSH2	NM_000251.2			NP_000242.1
	NM_001258281.1			NP_001245210.1
	XM_005264332.3			XP_005264389.2
	XM_011532867.1			XP_011531169.1
	AK222860.1			BAD96580.1
	AK223284.1			BAD97004.1
	AK296831.1
	AK297763.1
	AK304496.1
	AK311330.1
	BC021566.1			AAH21566.1
	BX649122.1
	DC342099.1
	DQ648894.1
	L47574.1			AAB59566.1
	L47575.1			AAB59567.1
	L47576.1			AAB59568.1
	L47577.1			AAB59569.1
	L47578.1			AAB59570.1
	L47579.1			AAB59571.1
	L47580.1			AAB59572.1
	L47581.1			AAA76858.1
	L47582.1			AAB59565.1
	L47583.1			AAB59564.1
	U03911.1			AAA18643.1
	U04045.1			AAA61870.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv999576	Chr.2:47278977 - 47546821 on Build GRCh38	Gain	LOC101927043 HCG2040054 EPCAM MIR559 BCYRN1 KCNK12 MSH2
nsv1004828	Chr.2:46829710 - 47587343 on Build GRCh38	Gain	LOC101927043 HCG2040054 TTC7A LINC01119 MCFD2 CALM2 C2orf61 EPCAM MIR559 BCYRN1 KCNK12 MSH2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA metabolism protein

Gene Ontology Categories:

Process(es)

meiotic mismatch repair
in utero embryonic development
oxidative phosphorylation
DNA repair
mismatch repair
postreplication repair
double-strand break repair
meiotic gene conversion
cell cycle arrest
reciprocal meiotic recombination
germ cell development
determination of adult lifespan
male gonad development
response to X-ray
response to UV-B
somatic hypermutation of immunoglobulin genes
somatic recombination of immunoglobulin gene segments
B cell mediated immunity
B cell differentiation
intra-S DNA damage checkpoint
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
negative regulation of neuron apoptotic process
maintenance of DNA repeat elements
negative regulation of reciprocal meiotic recombination
isotype switching
negative regulation of DNA recombination
positive regulation of helicase activity

Function(s)

magnesium ion binding
four-way junction DNA binding
Y-form DNA binding
heteroduplex DNA loop binding
double-strand/single-strand DNA junction binding
DNA binding
double-stranded DNA binding
single-stranded DNA binding
protein binding
ATP binding
protein C-terminus binding
ATPase activity
centromeric DNA binding
enzyme binding
protein kinase binding
mismatched DNA binding
guanine/thymine mispair binding
dinucleotide insertion or deletion binding
single guanine insertion binding
single thymine insertion binding
dinucleotide repeat insertion binding
oxidized purine DNA binding
MutLalpha complex binding
protein homodimerization activity
ADP binding