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

Gene ID: 83943, updated on 7-Jan-2023

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; AllianceGenome:HGNC:14598
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See IMMP2L in Genome Data Viewer
Location:
7q31.1
Exon count:
18
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (110662644..111562492, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (111980964..112880817, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (110302700..111202548, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375452 Neighboring gene Sharpr-MPRA regulatory region 11752 Neighboring gene uncharacterized LOC124901723 Neighboring gene uncharacterized LOC124901724 Neighboring gene Sharpr-MPRA regulatory region 15683 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC124901725 Neighboring gene leucine rich repeat neuronal 3 Neighboring gene uncharacterized LOC124900232 Neighboring gene argininosuccinate synthase 1 pseudogene Neighboring gene uncharacterized LOC124901727 Neighboring gene uncharacterized LOC124901726 Neighboring gene dedicator of cytokinesis 4

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

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2022-04-12)

ClinGen Genome Curation Page
Haploinsufficency

Dosage sensitivity unlikely (Last evaluated 2022-04-12)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
EBI GWAS Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
EBI GWAS Catalog

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
enables endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables peptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in blood circulation IEA
Inferred from Electronic Annotation
more info
 
involved_in brain development IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to DNA damage stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cerebellum vasculature development IEA
Inferred from Electronic Annotation
more info
 
involved_in mitochondrial respiratory chain complex assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
involved_in ovulation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein processing involved in protein targeting to mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein processing involved in protein targeting to mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in respiratory electron transport chain IEA
Inferred from Electronic Annotation
more info
 
involved_in signal peptide processing NAS
Non-traceable Author Statement
more info
PubMed 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in superoxide metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
PubMed 
part_of mitochondrial inner membrane peptidase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of mitochondrial inner membrane peptidase complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
part_of mitochondrial inner membrane peptidase complex NAS
Non-traceable Author Statement
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
NP_001231535.1
NP_001337888.1
NP_001337889.1
NP_001337890.1
NP_001337891.1
NP_001337892.1
NP_001337893.1
NP_115938.1
XP_011514911.1
XP_016868188.1
XP_016868189.1
XP_016868190.1
XP_016868191.1
XP_016868192.1
XP_024302725.1
XP_024302726.1
XP_024302728.1
XP_024302729.1
XP_047276879.1
XP_047276880.1
XP_047276881.1
XP_047276882.1
XP_047276883.1
XP_047276884.1
XP_047276885.1
XP_047276886.1
XP_047276887.1
XP_047276888.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    Q96HJ2, 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
    UniProtKB/Swiss-Prot
    Q96HJ2
    UniProtKB/TrEMBL
    A4D0S9
    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
    UniProtKB/Swiss-Prot
    Q96HJ2
    UniProtKB/TrEMBL
    A4D0S9
    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
    Q96HJ2, 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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    110662644..111562492 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420925.1XP_047276881.1  mitochondrial inner membrane protease subunit 2 isoform X3

  2. XM_047420929.1XP_047276885.1  mitochondrial inner membrane protease subunit 2 isoform X10

  3. XM_011516609.3XP_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 ...
  4. XM_047420930.1XP_047276886.1  mitochondrial inner membrane protease subunit 2 isoform X10

  5. XM_047420927.1XP_047276883.1  mitochondrial inner membrane protease subunit 2 isoform X6

  6. XM_047420928.1XP_047276884.1  mitochondrial inner membrane protease subunit 2 isoform X8

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

  8. XM_017012700.2XP_016868189.1  mitochondrial inner membrane protease subunit 2 isoform X1

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

  10. XM_047420923.1XP_047276879.1  mitochondrial inner membrane protease subunit 2 isoform X2

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

  12. XM_047420924.1XP_047276880.1  mitochondrial inner membrane protease subunit 2 isoform X2

  13. XM_047420926.1XP_047276882.1  mitochondrial inner membrane protease subunit 2 isoform X5

  14. XM_017012703.2XP_016868192.1  mitochondrial inner membrane protease subunit 2 isoform X4

  15. XM_024446957.2XP_024302725.1  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_024446960.2XP_024302728.1  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 ...
  17. XM_024446961.2XP_024302729.1  mitochondrial inner membrane protease subunit 2 isoform X13

    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 ...
  18. XM_047420931.1XP_047276887.1  mitochondrial inner membrane protease subunit 2 isoform X11

  19. XM_047420932.1XP_047276888.1  mitochondrial inner membrane protease subunit 2 isoform X14

    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 ...
  20. XM_024446958.2XP_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 ...

RNA

  1. XR_007060162.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    111980964..112880817 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)