IMMP2L - inner mitochondrial membrane peptidase subunit 2 Gene

Homo sapiens

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

Gene ID: 83943 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06791	IMMP2L Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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