Hs03448924_cn

• Gene Symbol: MTIF2
• Assay Reference Genome Location: Chr.2:55235700 on build GRCh38
• Cytoband: 2p16.1

Target Gene Details

• Entrez Gene ID: 4528
• Gene Name: mitochondrial translational initiation factor 2
• Gene Aliases: -
• Location: Chr.2:55235583-55269311 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTIF2	XM_005264335.3	14	3247	XP_005264392.1
	XM_011532871.2	15	3281	XP_011531173.1
	XM_017004162.1	17	3577	XP_016859651.1
	XM_017004163.1	16	3653	XP_016859652.1
	XM_017004164.1	15	3265	XP_016859653.1
	XM_017004165.1	16	3480	XP_016859654.1
	XM_017004166.1	16	3672	XP_016859655.1
	XM_017004167.1	12	3749	XP_016859656.1

Target Gene Details

• Entrez Gene ID: 6233
• Gene Name: ribosomal protein S27a
• Gene Aliases: CEP80, HEL112, S27A, UBA80, UBC, UBCEP1, UBCEP80
• Location: Chr.2:55231903-55235853 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RPS27A	NM_001135592.2	6	817	NP_001129064.1
	NM_001177413.1	5	741	NP_001170884.1
	NM_002954.5	6	915	NP_002945.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2720078	Chr.2:53962225 - 55281329 on Build GRCh38	Deletion	TSPYL6 RTN4 RPL23AP32 CLHC1 RPS27A SPTBN1 C2orf73 ACYP2 EML6 PSME4 MTIF2
nsv961777	Chr.2:55234840 - 55236211 on Build GRCh38	Duplication	RPS27A MTIF2
nsv522016	Chr.2:55177658 - 55333162 on Build GRCh38	Gain	PRORSD1P CLHC1 CCDC88A RPS27A MTIF2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

translation initiation factor

Gene Ontology Categories:

Process(es)

regulation of translational initiation
ribosome disassembly
mitochondrial translational initiation
G2/M transition of mitotic cell cycle
negative regulation of transcription from RNA polymerase II promoter
MAPK cascade
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
activation of MAPK activity
protein polyubiquitination
nucleotide-excision repair, DNA damage recognition
nucleotide-excision repair, DNA duplex unwinding
stimulatory C-type lectin receptor signaling pathway
MyD88-dependent toll-like receptor signaling pathway
MyD88-independent toll-like receptor signaling pathway
glycogen biosynthetic process
transcription-coupled nucleotide-excision repair
nucleotide-excision repair, preincision complex assembly
nucleotide-excision repair, DNA incision, 5'-to lesion
nucleotide-excision repair, DNA gap filling
rRNA processing
translation
translational initiation
SRP-dependent cotranslational protein targeting to membrane
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
transforming growth factor beta receptor signaling pathway
Notch signaling pathway
I-kappaB kinase/NF-kappaB signaling
JNK cascade
fibroblast growth factor receptor signaling pathway
regulation of tumor necrosis factor-mediated signaling pathway
regulation of necrotic cell death
Wnt signaling pathway
endosomal transport
macroautophagy
viral life cycle
virion assembly
viral transcription
translesion synthesis
negative regulation of transforming growth factor beta receptor signaling pathway
anaphase-promoting complex-dependent catabolic process
regulation of type I interferon production
negative regulation of type I interferon production
tumor necrosis factor-mediated signaling pathway
nucleotide-excision repair, DNA incision
ion transmembrane transport
TRIF-dependent toll-like receptor signaling pathway
interstrand cross-link repair
NIK/NF-kappaB signaling
Fc-epsilon receptor signaling pathway
ERBB2 signaling pathway
negative regulation of epidermal growth factor receptor signaling pathway
error-prone translesion synthesis
DNA damage response, detection of DNA damage
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
positive regulation of apoptotic process
negative regulation of apoptotic process
positive regulation of I-kappaB kinase/NF-kappaB signaling
proteasome-mediated ubiquitin-dependent protein catabolic process
regulation of mRNA stability
cellular protein metabolic process
innate immune response
positive regulation of epidermal growth factor receptor signaling pathway
positive regulation of transcription from RNA polymerase II promoter
T cell receptor signaling pathway
positive regulation of NF-kappaB transcription factor activity
stress-activated MAPK cascade
negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle
positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition
Wnt signaling pathway, planar cell polarity pathway
regulation of transcription from RNA polymerase II promoter in response to hypoxia
nucleotide-binding oligomerization domain containing signaling pathway
global genome nucleotide-excision repair
error-free translesion synthesis
intracellular transport of virus
negative regulation of canonical Wnt signaling pathway
positive regulation of canonical Wnt signaling pathway
regulation of signal transduction by p53 class mediator

Function(s)

translation initiation factor activity
GTPase activity
GTP binding
translation factor activity, RNA binding
ribosomal small subunit binding
poly(A) RNA binding
structural constituent of ribosome
protein binding
metal ion binding