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

    Gene ID: 83943, updated on 30-Oct-2024

    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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (110662644..111562492, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (111980964..112880817, complement)
    RS_2024_09 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 NANOG hESC enhancer GRCh37_chr7:110230392-110230942 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:110358473-110359258 Neighboring gene uncharacterized LOC124901724 Neighboring gene NANOG hESC enhancer GRCh37_chr7:110444579-110445080 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:110490168-110490726 Neighboring gene Sharpr-MPRA regulatory region 15683 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:110691790-110692442 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:110736847-110737774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26505 Neighboring gene uncharacterized LOC124901853 Neighboring gene MPRA-validated peak6687 silencer Neighboring gene uncharacterized LOC124901725 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:110832884-110833522 Neighboring gene leucine rich repeat neuronal 3 Neighboring gene MPRA-validated peak6688 silencer Neighboring gene uncharacterized LOC124900232 Neighboring gene NANOG hESC enhancer GRCh37_chr7:111032977-111033478 Neighboring gene argininosuccinate synthase 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:111085393-111086024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:111086025-111086655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26507 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18543 Neighboring gene NANOG hESC enhancer GRCh37_chr7:111276647-111277190 Neighboring gene MPRA-validated peak6689 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr7:111382935-111383576 Neighboring gene uncharacterized LOC124901727 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:111397974-111399173 Neighboring gene uncharacterized LOC124901726 Neighboring gene dedicator of cytokinesis 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    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
     
    enables peptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in DNA damage response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood circulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain development 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
     
    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
     

    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)

    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
      Q75MF1, Q75MN9, Q75MP0, Q75MS5, Q75MS8, 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
      Q75MF1, Q75MN9, Q75MP0, Q75MS5, Q75MS8, Q96HJ2, Q96T52
      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
      Q75MF1, Q75MN9, Q75MP0, Q75MS5, Q75MS8, Q96HJ2, Q96T52
      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
      UniProtKB/TrEMBL
      C9JVB0
      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
      Q75MF1, Q75MN9, Q75MP0, Q75MS5, Q75MS8, 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: GCF_000001405.40-RS_2024_08

    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 X1

    2. XM_047420929.1XP_047276885.1  mitochondrial inner membrane protease subunit 2 isoform X6

    3. XM_011516609.3XP_011514911.1  mitochondrial inner membrane protease subunit 2 isoform X4

      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 X6

    5. XM_047420927.1XP_047276883.1  mitochondrial inner membrane protease subunit 2 isoform X4

    6. XM_047420928.1XP_047276884.1  mitochondrial inner membrane protease subunit 2 isoform X5

    7. XM_017012701.2XP_016868190.1  mitochondrial inner membrane protease subunit 2 isoform X8

    8. XM_017012700.2XP_016868189.1  mitochondrial inner membrane protease subunit 2 isoform X7

    9. XM_017012702.2XP_016868191.1  mitochondrial inner membrane protease subunit 2 isoform X8

    10. XM_047420923.1XP_047276879.1  mitochondrial inner membrane protease subunit 2 isoform X8

    11. XM_017012699.2XP_016868188.1  mitochondrial inner membrane protease subunit 2 isoform X7

    12. XM_047420924.1XP_047276880.1  mitochondrial inner membrane protease subunit 2 isoform X8

    13. XM_047420926.1XP_047276882.1  mitochondrial inner membrane protease subunit 2 isoform X3

    14. XM_017012703.2XP_016868192.1  mitochondrial inner membrane protease subunit 2 isoform X2

    15. XM_024446957.2XP_024302725.1  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 ...
    16. XM_024446960.2XP_024302728.1  mitochondrial inner membrane protease subunit 2 isoform X12

      UniProtKB/TrEMBL
      C9JVB0
      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

      UniProtKB/TrEMBL
      C9JVB0
      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 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 ...

    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)

    mRNA and Protein(s)

    1. XM_054359178.1XP_054215153.1  mitochondrial inner membrane protease subunit 2 isoform X1

    2. XM_054359186.1XP_054215161.1  mitochondrial inner membrane protease subunit 2 isoform X6

    3. XM_054359184.1XP_054215159.1  mitochondrial inner membrane protease subunit 2 isoform X4

    4. XM_054359185.1XP_054215160.1  mitochondrial inner membrane protease subunit 2 isoform X5

    5. XM_054359180.1XP_054215155.1  mitochondrial inner membrane protease subunit 2 isoform X16

    6. XM_054359177.1XP_054215152.1  mitochondrial inner membrane protease subunit 2 isoform X15

    7. XM_054359181.1XP_054215156.1  mitochondrial inner membrane protease subunit 2 isoform X16

    8. XM_054359179.1XP_054215154.1  mitochondrial inner membrane protease subunit 2 isoform X16

    9. XM_054359176.1XP_054215151.1  mitochondrial inner membrane protease subunit 2 isoform X15

    10. XM_054359183.1XP_054215158.1  mitochondrial inner membrane protease subunit 2 isoform X3

    11. XM_054359182.1XP_054215157.1  mitochondrial inner membrane protease subunit 2 isoform X2