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IMMP2L inner mitochondrial membrane peptidase subunit 2 [ Homo sapiens (human) ]

Gene ID: 83943, updated on 20-Oct-2020

Summary

Official Symbol
IMMP2Lprovided by HGNC
Official Full Name
inner mitochondrial membrane peptidase subunit 2provided by HGNC
Primary source
HGNC:HGNC:14598
See related
Ensembl:ENSG00000184903 MIM:605977
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IMP2; IMP2-LIKE; IMMP2L-IT1
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See IMMP2L in Genome Data Viewer
Location:
7q31.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (110662644..111562531, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (110303106..111202588, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375451 Neighboring gene uncharacterized LOC105375450 Neighboring gene uncharacterized LOC105375452 Neighboring gene Sharpr-MPRA regulatory region 11752 Neighboring gene leucine rich repeat neuronal 3 Neighboring gene argininosuccinate synthase 1 pseudogene Neighboring gene DOCK4 antisense RNA 1 Neighboring gene dedicator of cytokinesis 4 Neighboring gene RNA, 5S ribosomal pseudogene 237

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
GeneReviews: Not available
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • AC073326.3

Gene Ontology Provided by GOA

Function Evidence Code Pubs
peptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
blood circulation IEA
Inferred from Electronic Annotation
more info
 
brain development IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IEA
Inferred from Electronic Annotation
more info
 
cerebellum vasculature development IEA
Inferred from Electronic Annotation
more info
 
mitochondrial respiratory chain complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
ovulation IEA
Inferred from Electronic Annotation
more info
 
protein processing involved in protein targeting to mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein processing involved in protein targeting to mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
respiratory electron transport chain IEA
Inferred from Electronic Annotation
more info
 
signal peptide processing IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
superoxide metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane peptidase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane peptidase complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030016.2 RefSeqGene

    Range
    5026..904874
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001244606.2NP_001231535.1  mitochondrial inner membrane protease subunit 2 isoform a

    See identical proteins and their annotated locations for NP_001231535.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), as well as variants 1, 3, and 4, encodes isoform a.
    Source sequence(s)
    AC005161, AC005166, AC006392, AC073326, AC092613
    Consensus CDS
    CCDS5753.1
    UniProtKB/Swiss-Prot
    Q96T52
    UniProtKB/TrEMBL
    A4D0S9
    Related
    ENSP00000329553.3, ENST00000331762.7
    Conserved Domains (1) summary
    TIGR02227
    Location:33152
    sigpep_I_bact; signal peptidase I, bacterial type
  2. NM_001350959.2NP_001337888.1  mitochondrial inner membrane protease subunit 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variants 1, 2, and 4, encodes isoform a.
    Source sequence(s)
    AC005161, AC005166, AC006392, AC073326, AC092613
    Consensus CDS
    CCDS5753.1
    Conserved Domains (1) summary
    TIGR02227
    Location:33152
    sigpep_I_bact; signal peptidase I, bacterial type
  3. NM_001350960.2NP_001337889.1  mitochondrial inner membrane protease subunit 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 1-3, encodes isoform a.
    Source sequence(s)
    AC005161, AC005166, AC006392, AC073326, AC092613
    Consensus CDS
    CCDS5753.1
    Conserved Domains (1) summary
    TIGR02227
    Location:33152
    sigpep_I_bact; signal peptidase I, bacterial type
  4. NM_001350961.2NP_001337890.1  mitochondrial inner membrane protease subunit 2 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) encodes the longest isoform (b).
    Source sequence(s)
    AC003989, AC005161, AC005166, AC006392, AC073326, AC092613
    Conserved Domains (1) summary
    cl26520
    Location:33180
    Peptidase_S26; Signal peptidase, peptidase S26
  5. NM_001350962.2NP_001337891.1  mitochondrial inner membrane protease subunit 2 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC006392, AC092613, BC008497
    Consensus CDS
    CCDS87540.1
    Related
    ENSP00000388327.1, ENST00000447215.5
    Conserved Domains (1) summary
    cd06530
    Location:3699
    S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
  6. NM_001350963.2NP_001337892.1  mitochondrial inner membrane protease subunit 2 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC005166, AC006392, AC073326, AC092613
    Conserved Domains (1) summary
    cd06530
    Location:3699
    S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
  7. NM_001350964.3NP_001337893.1  mitochondrial inner membrane protease subunit 2 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC005166, AC092613
    Conserved Domains (1) summary
    cd06530
    Location:3681
    S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
  8. NM_032549.4NP_115938.1  mitochondrial inner membrane protease subunit 2 isoform a

    See identical proteins and their annotated locations for NP_115938.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), as well as variants 2-4, encodes isoform a.
    Source sequence(s)
    AC005161, AC005166, AC006392, AC073326, AC092613
    Consensus CDS
    CCDS5753.1
    UniProtKB/Swiss-Prot
    Q96T52
    UniProtKB/TrEMBL
    A4D0S9
    Related
    ENSP00000384966.2, ENST00000405709.7
    Conserved Domains (1) summary
    TIGR02227
    Location:33152
    sigpep_I_bact; signal peptidase I, bacterial type

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    110662644..111562531 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446956.1XP_024302724.1  mitochondrial inner membrane protease subunit 2 isoform X5

    Conserved Domains (1) summary
    cl26520
    Location:4111
    Peptidase_S26; Signal peptidase, peptidase S26
  2. XM_011516609.2XP_011514911.1  mitochondrial inner membrane protease subunit 2 isoform X6

    Conserved Domains (1) summary
    cd06530
    Location:36127
    S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
  3. XM_011516608.2XP_011514910.1  mitochondrial inner membrane protease subunit 2 isoform X4

    Conserved Domains (1) summary
    cd06530
    Location:36164
    S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
  4. XM_017012704.1XP_016868193.1  mitochondrial inner membrane protease subunit 2 isoform X4

    Conserved Domains (1) summary
    cd06530
    Location:36164
    S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
  5. XM_017012700.1XP_016868189.1  mitochondrial inner membrane protease subunit 2 isoform X1

  6. XM_017012702.1XP_016868191.1  mitochondrial inner membrane protease subunit 2 isoform X2

  7. XM_017012701.1XP_016868190.1  mitochondrial inner membrane protease subunit 2 isoform X2

  8. XM_017012699.1XP_016868188.1  mitochondrial inner membrane protease subunit 2 isoform X1

  9. XM_017012703.1XP_016868192.1  mitochondrial inner membrane protease subunit 2 isoform X3

  10. XM_024446957.1XP_024302725.1  mitochondrial inner membrane protease subunit 2 isoform X8

    Conserved Domains (1) summary
    cd06530
    Location:3677
    S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
  11. XM_024446960.1XP_024302728.1  mitochondrial inner membrane protease subunit 2 isoform X11

    Conserved Domains (1) summary
    cd06530
    Location:3677
    S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
  12. XM_024446961.1XP_024302729.1  mitochondrial inner membrane protease subunit 2 isoform X12

    Conserved Domains (1) summary
    cd06530
    Location:3677
    S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
  13. XM_024446959.1XP_024302727.1  mitochondrial inner membrane protease subunit 2 isoform X10

    Conserved Domains (1) summary
    cd06530
    Location:3677
    S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
  14. XM_024446962.1XP_024302730.1  mitochondrial inner membrane protease subunit 2 isoform X13

    Conserved Domains (1) summary
    cd06530
    Location:3681
    S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
  15. XM_011516611.2XP_011514913.1  mitochondrial inner membrane protease subunit 2 isoform X7

    Conserved Domains (1) summary
    cd06530
    Location:3677
    S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
  16. XM_024446958.1XP_024302726.1  mitochondrial inner membrane protease subunit 2 isoform X9

    Conserved Domains (1) summary
    cd06530
    Location:3677
    S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
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