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IMMP2L - inner mitochondrial membrane peptidase subunit 2 Gene

Also Known as IMP2; IMP2-LIKE; IMMP2L-IT1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 83943

About IMMP2L

Cytogenetic location: 7q31.1 Genomic coordinates (GRCh38): 7:110,662,644-111,562,492 (from NCBI)

This gene has 10 transcripts (splice variants), 171 orthologues, 1 paralogue and is associated with 1 phenotype. Low expression observed in reference dataset.

Summary

This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [provided by RefSeq, Sep 2011]

IMMP2L Products (8)

mRNA	Protein	Name
NM_001244606.2	NP_001231535.1	mitochondrial inner membrane protease subunit 2 isoform a
NM_001350959.2	NP_001337888.1	mitochondrial inner membrane protease subunit 2 isoform a
NM_001350960.2	NP_001337889.1	mitochondrial inner membrane protease subunit 2 isoform a
NM_001350961.2	NP_001337890.1	mitochondrial inner membrane protease subunit 2 isoform b
NM_001350962.2	NP_001337891.1	mitochondrial inner membrane protease subunit 2 isoform c
NM_001350963.2	NP_001337892.1	mitochondrial inner membrane protease subunit 2 isoform d
NM_001350964.3	NP_001337893.1	mitochondrial inner membrane protease subunit 2 isoform e
NM_032549.4	NP_115938.1	mitochondrial inner membrane protease subunit 2 isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IMMP2L Protein Structure

Peptidase_S24

0
100
175 a.a.

Protein Preferred Names	Protein Names
mitochondrial inner membrane protease subunit 2	IMP2 inner mitochondrial membrane peptidase-like

Related Diseases

Diseases	Alias
Gilles De La Tourette Syndrome	Tourette Syndrome Tourette Disorder GTS Ts Gilles De La Tourette'S Syndrome Motor-Verbal Tic Disorder Guinon'S Disease Psychogenic Tics Tourette'S Syndrome Chronic Motor And Vocal Tic Disorder Td Tourette'S Disease Combined Vocal And Multiple Motor Tic Disorder [De La Tourette] Combined Vocal And Multiple Motor Tic Disorder Tic De La Tourette
Deafness, Autosomal Recessive 14	DFNB14 Autosomal Recessive Nonsyndromic Deafness 14 Autosomal Recessive Deafness 14
Tic Disorder	Tics Behavioral Tic
Transient Tic Disorder
Nephronophthisis-Like Nephropathy 1	NPHPL1 Nephronophthisis-Like Nephropathy, Type 1
Trichothiodystrophy 5, Nonphotosensitive	TTD5 Nonphotosensitive Trichothiodystrophy 5 Trichothiodystrophy 5, Non-Photosensitive
Chronic Tic Disorder	Chronic Motor Or Vocal Tic Disorder Tic Disorders Tic Disorder Tic Disorder Nos Tic Nos Tic Spasm Nos
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	MRD44 Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome Autosomal Dominant Non-Syndromic Intellectual Disability 44 Mental Retardation, Autosomal Dominant 44 Autosomal Dominant Intellectual Developmental Disorder 44 Autosomal Dominant Intellectual Developmental Disorder 44 With Microcephaly Autosomal Dominant Mental Retardation 44 Mental Retardation, Autosomal Dominant, Type 44
Echolalia
Deafness, Autosomal Recessive 17	DFNB17 Autosomal Recessive Nonsyndromic Deafness 17 Autosomal Recessive Deafness 17
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	SMDMDM Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type Spondylometaphyseal Dysplasia Megarbane-Dagher-Melike Type Chondrodysplasia, Megarbane-Dagher-Melki Type Megarbane-Dagher-Melike Type Chondrodysplasia Chondrodysplasia, Megarbane-Dagher-Melike Type Dysplasia, Spondylometaphyseal, Megarbane-Dagher-Melike Type
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Expressive Language Disorder	Developmental Expressive Language Disorder
Reading Disorder	Specific Reading Disorder Reading Dyslexia Developmental Reading Disorder
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency Cox Deficiency Cytochrome-C Oxidase Deficiency Disease MC1DN4 Cytochrome-C Oxidase Deficiency MC4DN1 Mitochondrial Complex I Deficiency, Nuclear Type 4 Complex 4 Mitochondrial Respiratory Chain Deficiency Complex Iv Deficiency Mitochondrial Complex 1 Deficiency, Nuclear Type 4 Nuclear Type Mitochondrial Complex I Deficiency 4 Deficiency Of Mitochondrial Respiratory Chain Complex4 MT-C4D Complex Iv Mitochondrial Respiratory Chain Deficiency Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS28389	Immp2l Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS06791	IMMP2L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21872	Immp2l Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	IMMP2L	RGD	RGD:2323665
Mus musculus	IMMP2L	MGD	MGI:2135611
Bos taurus	IMMP2L	VGNC	VGNC:57350
Macaca mulatta	IMMP2L	VGNC	VGNC:73596
Others	IMMP2L	NCBI