Hs07455891_cn

• Gene Symbol: HCG2040054
• Assay Reference Genome Location: Chr.2:47528665 on build GRCh38
• Cytoband: 2p16.3

Target Gene Details

• Entrez Gene ID: 644093
• Gene Name: uncharacterized LOC644093
• Gene Aliases: -
• Location: Chr.2:47527537-47529164 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HCG2040054	NR_120602.1
	AI032330.1
	AI150334.1

Target Gene Details

• Entrez Gene ID: 56660
• Gene Name: potassium two pore domain channel subfamily K member 12
• Gene Aliases: K2p12.1, THIK-2, THIK2
• Location: Chr.2:47520775-47570331 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KCNK12	NM_022055.1			NP_071338.1
	AF287302.1			AAG32313.1
	BC047749.1			AAH47749.1

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 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MSH2	XM_005264332.3			XP_005264389.2
	XM_011532867.1			XP_011531169.1
	AK223284.1			BAD97004.1

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 KCNK12 MSH2 HCG2040054 MIR559 BCYRN1 EPCAM
nsv998314	Chr.2:47493281 - 47732029 on Build GRCh38	Loss	KCNK12 MSH2 HCG2040054 LOC440864
nsv1004828	Chr.2:46829710 - 47587343 on Build GRCh38	Gain	LOC101927043 LINC01119 C2orf61 KCNK12 MSH2 HCG2040054 MIR559 MCFD2 CALM2 BCYRN1 TTC7A EPCAM

More Information

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

Panther Classification:

Molecular Function -

ion channel, transporter, DNA metabolism protein

Gene Ontology Categories:

Process(es)

stabilization of membrane potential
regulation of ion transmembrane transport
potassium ion transmembrane transport
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)

voltage-gated ion channel activity
potassium ion leak channel activity
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