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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MTERFD2 Gene

protein-coding GIFtS: 48
GCID: GC02M242014

MTERF domain containing 2

Explore 1 disease affiliated with
MTERFD2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
MTERF Domain Containing 2¹ ²
Mitochondrial Transcription Termination Factor 4² ³
MTERF4² ³
MGC61716¹
MTERF Domain-Containing Protein 2²

External Ids:	HGNC: 28785¹	Entrez Gene: 130916²	Ensembl: ENSG00000122085⁷	UniProtKB: Q7Z6M4³

ORGUL members:
	NONCODE:n408116 n408117 n408118

Export aliases for MTERFD2 gene to outside databases

Previous GC identifers: GC02M241747 GC02M233782

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: MTER2_HUMAN, Q7Z6M4

Function: Required for the targeting of the methyltransferase NSUN4 to mitochondrial large ribosomal subunit and

efficient rRNA methylation

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005416.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MTERFD2 gene promoter:
AML1a Tal-1 Bach2 POU6F1 (c2) STAT5A E47 COMP1 Cart-1 c-Myb MRF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MTERFD2 promoter sequence

Search SABiosciences Chromatin IP Primers for MTERFD2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTERFD2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.3 Ensembl cytogenetic band: 2q37.3 HGNC cytogenetic band: 2q37.3

MTERFD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTERFD2 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M242014: view genomic region (about GC identifiers)

Start:	242,014,469 bp from pter	End:	242,041,747 bp from pter
Size:	27,279 bases	Orientation:	minus strand

ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for MTERFD2

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MTER2_HUMAN, Q7Z6M4 (See protein sequence)

Recommended Name: mTERF domain-containing protein 2

Size: 381 amino acids; 43958 Da

Subunit: Heterodimer with NSUN4

Subcellular location: Mitochondrion

Sequence caution: Sequence=AAF28919.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

2 PDB 3D structures from and Proteopedia for MTERFD2:

4FP9 (3D)

4FZV (3D)

Secondary accessions: Q9P0E0

Explore the universe of human proteins at neXtProt for MTERFD2: NX_Q7Z6M4

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q7Z6M4

MTERFD2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_872307.2

ENSEMBL proteins:

ENSP00000241527 ENSP00000413346 ENSP00000419315 ENSP00000401409 ENSP00000385183

ENSP00000375840 ENSP00000384998 ENSP00000414989 ENSP00000409023 ENSP00000385630

ENSP00000393063

Human Recombinant Protein Products for MTERFD2:

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	Uscn Proteins for MTERFD2

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	--	--
GO:0005762	mitochondrial large ribosomal subunit	IDA	--

MTERFD2 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MTERFD2 for domains About GeneDecksing

1 InterPro domain/family:

IPR003690 Mit_transcrip_term-rel

Graphical View of Domain Structure for InterPro Entry Q7Z6M4

ProtoNet protein and cluster: Q7Z6M4

UniProtKB/Swiss-Prot: MTER2_HUMAN, Q7Z6M4

Domain: The MTERF repeats form a half-donut shaped, right-handed superhelix, where the concave side displays a

positively charged path for nucleic acid interaction

Similarity: Belongs to the mTERF family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MTER2_HUMAN, Q7Z6M4

Function: Required for the targeting of the methyltransferase NSUN4 to mitochondrial large ribosomal subunit and

efficient rRNA methylation

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0019843	rRNA binding	IDA	--

MTERFD2 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for MTERFD2:

Increased gamma-H2AX phosphory

8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Mterfd2):

cardiovascular system	cellular	embryogenesis	growth/size	mortality/aging
muscle	nervous system	vision/eye

MTERFD2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Mterfd2^tm1.2Lrsn for MTERFD2

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MTERFD2

miRNA Products:		OriGene 3'-UTR Clone: MTERFD2 Browse MicroRNA Expression Plasmids
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		1 QIAGEN miScript miRNA Assays for microRNA that regulate MTERFD2:
		hsa-miR-1253
		SwitchGear 3'UTR luciferase reporter plasmid: MTERFD2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTERFD2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MTERFD2

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

5/6 Interacting proteins for MTERFD2 (Q7Z6M4^{2, 3} ENSP00000241527⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ATXN1	P54253²^,³, ENSP00000244769⁴	MINT-2878699 I2D: score=3 STRING: ENSP00000244769
ICT1	Q14197³, ENSP00000301585⁴	I2D: score=1 STRING: ENSP00000301585
FOS	P01100³	I2D: score=1
KBTBD7	Q8WVZ9³	I2D: score=1
SQSTM1	Q13501³	I2D: score=1

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006364	rRNA processing	IEA	--
GO:0006390	transcription from mitochondrial promoter	IEA	--
GO:0006626	protein targeting to mitochondrion	IEA	--
GO:0007507	heart development	IEA	--
GO:0042255	ribosome assembly	IEA	--

MTERFD2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MTERFD2
Search CenterWatch for drugs/clinical trials and news about MTERFD2 / MTER2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MTERFD2 gene:

NM_182501.3

Unigene Cluster for MTERFD2:

MTERF domain containing 2

Hs.159556 [show with all ESTs]

Unigene Representative Sequence: NR_028049

18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):

ENST00000496878 ENST00000464344 ENST00000241527(uc002wan.1 uc010zoj.1)

ENST00000488567 ENST00000455202 ENST00000480298 ENST00000476564 ENST00000449133

ENST00000495694 ENST00000479205 ENST00000493169 ENST00000414146 ENST00000401626

ENST00000391980 ENST00000406593 ENST00000439144 ENST00000424798 ENST00000460915

miRNA Products:		OriGene 3'-UTR Clone: MTERFD2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MTERFD2
		1 QIAGEN miScript miRNA Assays for microRNA that regulate MTERFD2:
		hsa-miR-1253
		SwitchGear 3'UTR luciferase reporter plasmid: MTERFD2 3' UTR sequence

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Additional cDNA sequence:

AF161359.1 AK025374.1 AK055474.1 AK093695.1 AK124444.1 AK126322.1 AK131298.1 AK291665.1

AK294192.1 AK296515.1 BC044641.1 BC053533.1 BX648184.1 NR_028049.1 NR_028050.1 NR_028051.1

17 DOTS entries:

DT.415499 DT.97844954 DT.121013106 DT.100008381 DT.100788137 DT.95275831 DT.100690320 DT.100740830

DT.121013100 DT.121013126 DT.91658330 DT.91753721 DT.100788134 DT.100788135 DT.121013120 DT.121313559

DT.91753722

13 AceView cDNA sequences:

AI264069 BX398380 Z38549 BQ675918 BM691984 AW517838 AK055474 AI696552

BC044641 AI040362 BX096349 Z42316 BI195246

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for MTERFD2 (see all 11) About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4a	·	4b	·	4c	·	4d	^	5a	·	5b	·	5c	^	6a	·	6b	·	6c	^	7	^	8	^	9
SP1:					-		-		-		-						-				-		-
SP2:					-		-				-		-		-		-				-		-
SP3:					-		-		-		-		-		-		-		-		-		-		-		-		-				-
SP4:					-		-		-		-						-
SP5:					-		-		-		-		-		-		-				-		-

ECgene alternative splicing isoforms for MTERFD2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MTERFD2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTGATCTGT

About this image

MTERFD2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Primitive gut tube-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MTERFD2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MTERFD2

SOURCE GeneReport for Unigene cluster: Hs.159556

SABiosciences Custom PCR Arrays for MTERFD2

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for MTERFD2 gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mterfd2^{1 , 5}	MTERF domain containing 2^{1, 5}	76.07(n)¹ 65.12(a)¹		1 (47.24 cM)⁵ 69821¹ NM_178051.3¹ NP_835152.1¹ 93299211⁵
lizard (Anolis carolinensis)	Reptilia	MTERFD2⁶	--	49(a)	1 ↔ 1	3(30090330-30093133)
zebrafish (Danio rerio)	Actinopterygii	si:dkeyp-94h10.5¹	si:dkeyp-94h10.5	53.39(n) 45.42(a)		100000849 NM_001126468.1 NP_001119940.1
fruit fly (Drosophila melanogaster)	Insecta	CG15390⁶	--	22(a)	1 ↔ 1	2L(2374713-2375697)
worm (Caenorhabditis elegans)	Secernentea	K11D2.5⁶	--	20(a)	1 ↔ 1	I(12513509-12518687)

ENSEMBL Gene Tree for MTERFD2 (if available)
TreeFam Gene Tree for MTERFD2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs6719155^1,2	C,F,A,H	--	242034149(+)	`TGTTTT/CACAGC`	3	--	int¹		12		NS EA NA WA CSA	778
rs6737057^1,2	C,F,A,H	--	242034380(+)	`CTCTAC/TCTCAG`	3	--	int¹		26		NA NS EA WA CSA	2486
rs193011693^1,2		--	242034447(+)	`TCTTCA/GGACTC`	3	--	int¹		0	--	--	--	--
rs113198353^1,2	C	--	242034474(+)	`TGACAC/AGCCCC`	3	--	int¹		3		NA WA	240
rs34863165^1,2	C	--	242034477(+)	`CACGCG/CCCCCC`	3	--	int¹		3		NA	6
rs202088266^1,2		--	242034489(+)	`CCCCC-/ACACAC`	4	--	int¹		0	--	--	--	--
rs185314539^1,2		--	242034581(+)	`GTTCTC/TGAAGC`	4	--	int¹ nc-transcript-variant		0	--	--	--	--
rs189940882^1,2		--	242034876(+)	`TGCACC/TGAATA`	4	--	int¹ nc-transcript-variant		0	--	--	--	--
rs111782903^1,2	F	--	242034963(+)	`AAGTGC/TTATGA`	4	--	int¹ nc-transcript-variant		2		CSA	4
rs117728841^1,2	C,F	--	242035021(+)	`AGAAGG/AAAATA`	4	--	int¹ nc-transcript-variantut3¹		1		EA	120

HapMap Linkage Disequilibrium report for MTERFD2 (242014469 - 242041747 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MTERFD2
1 Indel: 45982

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MTERFD2

DNA2.0 Custom Variant and Variant Library Synthesis for MTERFD2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MTERFD2 for disorders About GeneDecksing

1 disease for MTERFD2: About MalaCards

ataxia

Export disorders for MTERFD2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MTERFD2 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with MTERFD2)

Utopia: connect your pdf to the dynamic
world of online information

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
Genome-wide association study of circulating estradiol , testosterone, and sex hormone-binding globulin in postmenopausal women. (PubMed id 22675492)¹ Prescott J....De Vivo I. (2012)
Structure of the essential MTERF4:NSUN4 protein complex reveals how an MTERF protein collaborates to facilitate rRNA modification. (PubMed id 23022348)² Yakubovskaya E.... Garcia-Diaz M. (2012)
Structure of the human MTERF4-NSUN4 protein complex that regulates mitochondrial ribosome biogenesis. (PubMed id 22949673)² Spahr H.... Hallberg B.M. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)¹ Richter R....Chrzanowska-Lightowlers Z.M. (2010)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)

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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 130916	HGNC: 28785	AceView: MGC61716	Ensembl:ENSG00000122085	euGenes: HUgn130916
ECgene: MTERFD2	H-InvDB: MTERFD2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MTERFD2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MTERFD2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MTERFD2 gene:
Search GeneIP for patents involving MTERFD2

GeneCards and IP:
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MTERF domain containing 2

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MTERFD2 Gene

MTERF domain containing 2

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