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IMMT Gene

protein-coding GIFtS: 59
GCID: GC02M086282

Inner Membrane Protein, Mitochondrial

(Previous names: inner membrane protein, mitochondrial (mitofilin))

See IMMT-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Inner Membrane Protein, Mitochondrial¹ ²		P89²
HMP² ³ ⁵		PIG52²
Mitochondrial Inner Membrane Organizing System 2¹ ²		Cell Proliferation-Inducing Protein 52²
mitofilin¹ ²		Mitochondrial Inner Membrane Protein²
Cell Proliferation-Inducing Gene 4/52 Protein² ³		Motor Protein²
MINOS2² ³		Proliferation-Inducing Gene 4²
Inner Membrane Protein, Mitochondrial (Mitofilin)¹		Mitofilin³
P87²		p87/89³
P87/89²

External Ids:	HGNC: 6047¹	Entrez Gene: 10989²	Ensembl: ENSG00000132305⁷	OMIM: 600378⁵	UniProtKB: Q16891³

Export aliases for IMMT gene to outside databases

Previous GC identifers: GC02M086266 GC02M086665 GC02M086345

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for IMMT Gene:

IMMT (inner membrane protein, mitochondrial) is a protein-coding gene. Diseases associated with IMMT include melanoma-associated retinopathy, and amish lethal microcephaly.

Gene Wiki entry for IMMT Gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000002.11 NT_022184.16 NC_018913.2

Regulatory elements:

Regulatory transcription factor binding sites in the IMMT gene promoter:
GR STAT1 STAT1beta IRF-1 STAT1alpha Max POU2F1 POU2F1a GR-alpha c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: IMMT promoter sequence

Search Chromatin IP Primers for IMMT

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IMMT

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

Entrez Gene cytogenetic band: 2p11.2|2 Ensembl cytogenetic band: 2p11.2 HGNC cytogenetic band: 2p11.2

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

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M086282: view genomic region (about GC identifiers)

Start:	86,371,055 bp from pter	End:	86,422,893 bp from pter
Size:	51,839 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: IMMT_HUMAN, Q16891 (See protein sequence)

Recommended Name: Mitochondrial inner membrane protein

Size: 758 amino acids; 83678 Da

Subunit: Interacts with OPA1, preferentially with the soluble OPA1 form. Component of the MINOS/MitOS complex,

that includes IMMT, HSPA9 and CHCHD3 and associates with mitochondrial outer membrane proteins SAMM50, MTX1 and

MTX2. Interacts with CHCHD6; the interaction is direct

Sequence caution: Sequence=CAH18389.1; Type=Erroneous termination; Positions=759; Note=Translated as stop;

Secondary accessions: B1H0U5 B2R5N6 Q14539 Q15092 Q68D41 Q69HW5 Q6IBL0 Q7Z3X1 Q8TAJ5 Q9P0V2

Alternative splicing: 4 isoforms: Q16891-1 Q16891-2 Q16891-3 Q16891-4

Explore the universe of human proteins at neXtProt for IMMT: NX_Q16891

Explore proteomics data for IMMT at MOPED

Post-translational modifications:

Ubiquitination² at Lys102, Lys110, Lys451

Modification sites at PhosphoSitePlus

See IMMT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts):

NP_001093639.1 NP_001093640.1 NP_006830.2

ENSEMBL proteins:

ENSP00000254636 ENSP00000396899 ENSP00000387262 ENSP00000415762 ENSP00000407788

ENSP00000387227 ENSP00000387237

IMMT Human Recombinant Protein Products:

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	GenScript Custom Purified and Recombinant Proteins Services for IMMT
	Novus Biologicals IMMT Proteins Novus Biologicals IMMT Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for IMMT
	Search eBioscience for Proteins for IMMT
	antibodies-online proteins for IMMT (3 products)
	antibodies-online peptides for IMMT

IMMT Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of IMMT
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	Novus Biologicals IMMT Antibodies
	Abcam antibodies for IMMT
	Cloud-Clone Corp. Antibodies for IMMT
	ThermoFisher Antibody for IMMT
	antibodies-online antibodies for IMMT (39 products)

IMMT Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for IMMT
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for IMMT Cloud-Clone Corp. CLIAs for IMMT
	Search eBioscience for ELISAs for IMMT
	antibodies-online kits for IMMT (3 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:

IPR019133 Mt-IM_prot_Mitofilin

Graphical View of Domain Structure for InterPro Entry Q16891

ProtoNet protein and cluster: Q16891

Find genes that share domains with IMMT About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	16169070
GO:0044822	poly(A) RNA binding	IDA	--

Find genes that share ontologies with IMMT About GenesLikeMe

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for IMMT

miRNA Products:		miRTarBase miRNAs that target IMMT: hsa-mir-615-3p (MIRT040039), hsa-mir-17-5p (MIRT050824), hsa-mir-34a-5p (MIRT025510), hsa-mir-652-3p (MIRT039513)

		Block miRNA regulation of human, mouse, rat IMMT using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate IMMT
		SwitchGear 3'UTR luciferase reporter plasmid: IMMT 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for IMMT
		Predesigned siRNA for gene silencing in human, mouse, rat IMMT

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for IMMT

Clone Products:		OriGene clones in human, mouse for IMMT (see all 17) OriGene ORF clones in mouse, rat for IMMT OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): IMMT (NM_006839)
		Sino Biological Human cDNA Clone for IMMT
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for IMMT
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IMMT

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for IMMT
		Browse ESI BIO Cell Lines and PureStem Progenitors for IMMT

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IMMT

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

IMMT_HUMAN, Q16891: Mitochondrion inner membrane

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
mitochondrion	5
nucleus	2
plasma membrane	2
cytosol	1
endoplasmic reticulum	1
extracellular	1
peroxisome	1

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Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	--
GO:0005743	mitochondrial inner membrane	IDA	9168817
GO:0016021	integral component of membrane	IEA	--

Find genes that share ontologies with IMMT About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for IMMT
Interactions:

Search GeneGlobe Interaction Network for IMMT

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for IMMT (Q16891^{1, 2, 3} ENSP00000387262⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 403)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ENSG00000225748	P48634²^,³, ENSP00000387477⁴	MINT-62725 MINT-62627 MINT-62801 I2D: score=5 STRING: ENSP00000387477
ENSG00000231825	P48634²^,³, ENSP00000415363⁴	MINT-62725 MINT-62627 MINT-62801 I2D: score=5 STRING: ENSP00000415363
ENSG00000206427	P48634²^,³	MINT-62725 MINT-62627 MINT-62801 I2D: score=5
ENSG00000225164	P48634²^,³	MINT-62725 MINT-62627 MINT-62801 I2D: score=5
ENSG00000226618	P48634²^,³	MINT-62725 MINT-62627 MINT-62801 I2D: score=5

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Gene Ontology (GO): 3 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008150	biological_process	ND	--
GO:0009409	response to cold	IEA	--
GO:0051560	mitochondrial calcium ion homeostasis	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for IMMT

6 Novoseek inferred chemical compound relationships for IMMT gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
atp	37.9	4	1535179 (1), 9698557 (1), 12783457 (1), 16303948 (1)
oxygen	12.6	2	15088069 (1), 17611046 (1)
adp	0.0887	1	9698557 (1)
nitric oxide	0	16	17611046 (5), 18086377 (3), 18356528 (1)
lipid	0	1	10656679 (1)
copper	0	2	11673586 (1), 15210538 (1)

Find genes that share compounds with IMMT About GenesLikeMe

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for IMMT gene (3 alternative transcripts):

NM_001100169.1 NM_001100170.1 NM_006839.2

Unigene Cluster for IMMT:

Inner membrane protein, mitochondrial

Hs.148559 [show with all ESTs]

Unigene Representative Sequence: NM_006839

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000254636(uc002sqy.4) ENST00000449247(uc002src.1) ENST00000410111(uc002sqz.4 uc002srb.4 uc002sra.4 uc010ytd.2 uc010yte.2 uc002sre.3 uc010fgs.1 uc010ytf.1)

ENST00000419070 ENST00000442664 ENST00000409051 ENST00000474969 ENST00000490238

ENST00000409258 ENST00000460081 ENST00000486633

miRNA Products:		Block miRNA regulation of human, mouse, rat IMMT using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate IMMT
		SwitchGear 3'UTR luciferase reporter plasmid: IMMT 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for IMMT
		Predesigned siRNA for gene silencing in human, mouse, rat IMMT

Clone Products:		OriGene clones in human, mouse for IMMT (see all 17) OriGene ORF clones in mouse, rat for IMMT OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): IMMT (NM_006839)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for IMMT
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IMMT

Primer Products:		OriGene qPCR primer pairs and template standards for IMMT OriGene qSTAR qPCR primer pairs in human, mouse for IMMT
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat IMMT
		QuantiTect SYBR Green Assays in human, mouse, rat IMMT
		QuantiFast Probe-based Assays in human, mouse, rat IMMT

Additional mRNA sequence:

AF148646.1 AK225780.1 AK296676.1 AK299014.1 AK299596.1 AK300017.1 AK304197.1 AK309004.1

AK312251.1 AY232292.1 AY921637.1 BC002412.2 BC005983.1 BC027458.1 BC107419.1 BX537369.1

CR456793.1 CR749590.1 D21091.1 D21092.1 D21093.1 D21094.1 L42572.1

Selected DOTS entries (see all 36):

DT.100882244 DT.456316 DT.120945155 DT.95266448 DT.120945213 DT.100882248 DT.100051990 DT.100882231

DT.95266454 DT.120945137 DT.100882242 DT.120945100 DT.91765385 DT.100882250 DT.102832682 DT.120945159

DT.120945207 DT.100055540 DT.100882233 DT.100882245 DT.120945165 DT.120945171 DT.120945205 DT.100806800

Selected AceView cDNA sequences (see all 566):

AU146496 BG001990 BU726449 BE887828 BF980984 AI935295 AU107737 BQ681225

AA188614 AA165119 AW732074 AA773194 AI630248 AI310749 AI439378 BM976118

AA247783 BQ224028 AI159802 AA813233 BM990354 AA190718 BM702325 BQ638298

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for IMMT (see all 15) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2a	·	2b	^	3	^	4a	·	4b	^	5	^	6	^	7a	·	7b	^	8a	·	8b	·	8c	·	8d	·	8e	·	8f	^	9	^	10a	·	10b	·	10c	·	10d	^	11	^
SP1:											-		-		-								-						-										-
SP2:											-		-		-								-						-		-								-
SP3:											-		-		-								-						-										-
SP4:											-		-		-								-						-		-								-
SP5:											-		-		-								-						-		-								-

ExUns:	12a	·	12b	^	13a	·	13b	^	14	^	15	^	16	^	17
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for IMMT

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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IMMT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TCAGTGAACG

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IMMT expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 12) fully expand


Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

Gut Tube (Gastrointestinal Tract) fully expand to see all 2 entries
Foregut

Kidney (Urinary System)
Metanephros

Thymus (Hematopoietic System)
Thymus

Eye (Sensory Organs)
Retina

IMMT Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

IMMT Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.148559

Custom PCR Arrays for IMMT

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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat IMMT
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		QuantiFast Probe-based Assays in human, mouse, rat IMMT

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IMMT

(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)
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This gene was present in the common ancestor of animals.

Orthologs for IMMT gene from Selected species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Immt^{1 , 5}	inner membrane protein, mitochondrial^{1, 5}	88.15(n)¹ 90.09(a)¹		6 (32.21 cM)⁵ 76614¹ NM_029673.3¹ NP_083949.2¹ 71831331⁵
chicken (Gallus gallus)	Aves	IMMT¹	inner membrane protein, mitochondrial	73.94(n) 77.46(a)		422912 NM_001006462.1 NP_001006462.1
lizard (Anolis carolinensis)	Reptilia	IMMT⁶	inner membrane protein, mitochondrial	73(a)	1 ↔ 1	6(60662495-60695115)
African clawed frog (Xenopus laevis)	Amphibia	Xl.8878²	Xenopus laevis, clone IMAGE4682452, mRNA	71.4(n)		BC041326.1
zebrafish (Danio rerio)	Actinopterygii	wufd16e04²	Danio rerio cDNA clone MGC64180 IMAGE6797898, complete more	73.91(n)		BC057438.1
fruit fly (Drosophila melanogaster)	Insecta	CG6455¹	CG6455	45.13(n) 33.6(a)		42587 NM_001275889.1 NP_001262818.1
worm (Caenorhabditis elegans)	Secernentea	T14G11.3³ immt-1¹	L96 protein (tipula iridescent virus (TIV) (weak))³ immt-1¹	27(a) (best of 2)³ 45.17(n)¹ 33.28(a)¹		X(2718430-2724093)³ 180566¹ NM_076074.5¹ NP_508475.2¹

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for IMMT gene

Find genes that share paralogs with IMMT About GenesLikeMe

1 Pseudogenes.org Pseudogene for IMMT
PGOHUM00000263062

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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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
				--	--	--		--	--
rs187102578^1,2		--	86370636(+)	`GTGACA/GCAATT`	3	--	ds500¹		0	--	--	--	--
rs142672547^1,2	C	--	86370667(+)	`TAGAA-/GTTCCTA CTTCTAGCTGTTCC`	3	--	ds500¹		0	--	--	--	--
rs61202903^1,2	C	--	86370679(+)	`CTTCT-/AGCTGT`	3	--	ds500¹		0	--	--	--	--
rs7578194^1,2	C,F,A,H	--	86370684(+)	`TGCTGC/TTGTTG`	3	--	ds500¹		4		NA CSA	10
rs60823566^1,2	C	--	86370685(+)	`CTGTT-/CCTA/C CTACTTCTGTTGT`	6	--	ds500¹ cds¹		0	--	--	--	--
rs370447331^1,2	C	--	86370687(+)	`CTGTT-/TTGTTT`	3	--	ds500¹		0	--	--	--	--
rs191891705^1,2		--	86370760(+)	`CTCTTA/GTTGCC`	3	--	ds500¹		0	--	--	--	--
rs113257540^1,2	C,F	--	86370789(+)	`TGCGAC/TCCTGA`	3	--	ds500¹		1		CSA	2
rs113260955^1,2	C,F	--	86370797(+)	`TGACTC/TACTGC`	3	--	ds500¹		1		CSA	2
rs876242^1,2	C,F,A,H	--	86371012(+)	`GCTACT/CGCACC`	3	--	ds500¹		20		NS EA NA WA CSA	1990

HapMap Linkage Disequilibrium report for IMMT (86371055 - 86422893 bp)

Structural Variations
Database of Genomic Variants (DGV) 4 variations for IMMT: About this table

Variant ID	Type	Subtype	PubMed ID
esv2720300	CNV	Deletion	23290073
esv2751903	CNV	Gain	17911159
nsv458574	CNV	Gain	19166990
nsv458563	CNV	Gain	19166990

Human Gene Mutation Database (HGMD): IMMT

Site Specific Mutation Identification with PCR Assays

Search QIAGEN SeqTarget long-range PCR primers for resequencing IMMT

DNA2.0 Custom Variant and Variant Library Synthesis for IMMT

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 600378 OMIM disorders: --

3 diseases for IMMT:
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melanoma-associated retinopathy amish lethal microcephaly gracile syndrome

Find genes that share disorders with IMMT About GenesLikeMe

3 Novoseek inferred disease relationships for IMMT gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lymphoma b-cell	33	1	1633729 (1)
biliary cirrhosis primary	23.6	1	2295468 (1)
encephalopathy	9.46	2	14528910 (1)

Genetic Association Database (GAD): IMMT
Human Genome Epidemiology (HuGE) Navigator: IMMT (1 document)

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(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)
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PubMed articles for IMMT gene, integrated from 10 sources (see all 139):
(articles sorted by number of sources associating them with IMMT)

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Mitofilin is a transmembrane protein of the inner mitochondrial membrane expressed as two isoforms. (PubMed id 9168817)^{1, 2, 3, 9} Gieffers C.... Frey J. (Exp. Cell Res. 1997)
A novel human gene that is preferentially transcribed in heart muscle. (PubMed id 8039717)^{1, 2, 3} Icho T.... Tsuchida N. (Gene 1994)
MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization. (PubMed id 22114354)^{1, 2} Alkhaja A.K.... Deckers M. (Mol. Biol. Cell 2012)
CHCM1/CHCHD6, a novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology. (PubMed id 22228767)^{1, 2} An J.... Sheikh M.S. (J. Biol. Chem. 2012)
Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)^{1, 4} Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
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. (Genome Res. 2004)
Mitochondrial localization of PARP-1 requires interaction with mitofilin and is involved in the maintenance of mitochondrial DNA integrity. (PubMed id 19762472)^{1, 9} Rossi M.N....Amati P. (J. Biol. Chem. 2009)
The mitochondrial inner membrane protein mitofilin controls cristae morphology. (PubMed id 15647377)^{1, 9} John G.B....Zha J. (Mol. Biol. Cell 2005)
The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil- helix domain-containing protein 3 and 6 and DnaJC11. (PubMed id 17624330)^{1, 9} Xie J.... Capaldi R.A. (FEBS Lett. 2007)
Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)¹ Scifo E....Lalowski M. (J. Proteome Res. 2013)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 10989	HGNC: 6047	AceView: IMMT	Ensembl:ENSG00000132305	euGenes: HUgn10989
ECgene: IMMT	H-InvDB: IMMT

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for IMMT	Pharmacogenomics, SNPs, Pathways

Intellectual Property for IMMT 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 IMMT gene:
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Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Inner Membrane Protein, Mitochondrial

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