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

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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exonic deletions in IMMP2L in schizophrenia with enhanced glycation stress subtype.
Title: Exonic deletions in IMMP2L in schizophrenia with enhanced glycation stress subtype.
Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay.
Title: Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay.
While the IMMP2L deletions carried non-recurrent breakpoints, in contrast to previous reports, meta-analysis found no evidence of association (P > 0.05) between IMMP2L deletions and ASD. We also observed common exonic deletions impacting IMMP2L in a separate control (5,971 samples) cohort where subjects were screened for psychiatric conditions.
Title: Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis.
data would indicate that deletions involving the IMMP2L gene may contribute to the development of a subgroup of cognitive/behavioral disorders
Title: Genomic Deletion Involving the IMMP2L Gene in Two Cases of Autism Spectrum Disorder.
Deficiency of IMMP2L in cells cultured under hypoxia and high glucose, exacerbated neuronal death.
Title: Suppression of Inner Mitochondrial Membrane Peptidase 2-Like (IMMP2L) Gene Exacerbates Hypoxia-Induced Neural Death Under High Glucose Condition.
Chromosomal breakpoints involved the IMMP2L gene in 7q31 is associated with Diffuse Large B-Cell Lymphomas.
Title: Novel IGH and MYC Translocation Partners in Diffuse Large B-Cell Lymphomas.
IMMP2L transcription requires Topoisomerase I in human primary astrocytes
Title: Transcriptional response to mitochondrial protease IMMP2L knockdown in human primary astrocytes.
genomic rearrangements affecting IMMP2L may be one of the predisposing factors involved in Tourette syndrome and overlapping neurodevelopmental disorders.
Title: Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.
Five genes have been directly disrupted in Tourette Syndrome by independent genomic rearrangements and copy number variations with unique breakpoints.
Title: Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism.
AUTS1/AUTS5 linkage to immp2l-dock4 may be involved in autism susceptibility
Title: High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-AA025228 (e-PCR)
- UniSTS:65282

D7S1516 (e-PCR)
- UniSTS:149253

D7S1559 (e-PCR)
- UniSTS:44551

RH119538 (e-PCR)
- UniSTS:132621

RH93111 (e-PCR)
- UniSTS:87821

GDB:1317800 (e-PCR)
- UniSTS:57618

G17180 (e-PCR)
- UniSTS:76820

SHGC-84610 (e-PCR)
- UniSTS:102938

D7S3150 (e-PCR)
- UniSTS:225822

D7S3153 (e-PCR)
- UniSTS:225823

D7S3154 (e-PCR)
- UniSTS:225824

D7S3151 (e-PCR)
- UniSTS:225825

D7S3155 (e-PCR)
- UniSTS:225826

D7S3152 (e-PCR)
- UniSTS:225827

D7S2117E (e-PCR)
- UniSTS:80167

RH47777 (e-PCR)
- UniSTS:60712

D7S1881 (e-PCR)
- UniSTS:15147

RH12396 (e-PCR)
- UniSTS:20279

GDB:1318264 (e-PCR)
- UniSTS:3903

D7S2056E (e-PCR)
- UniSTS:4687

HSC250 (e-PCR)
- UniSTS:261968

HSC251 (e-PCR)
- UniSTS:261969

RH36064 (e-PCR)
- UniSTS:15962

RH104083 (e-PCR)
- UniSTS:98408

GDB:1317184 (e-PCR)
- UniSTS:77677

GDB:1317798 (e-PCR)
- UniSTS:44144

L29655 (e-PCR)
- UniSTS:71281

RH36303 (e-PCR)
- UniSTS:21369

D7S1516 (e-PCR)
- UniSTS:76415

AFM191yc5 (e-PCR)
- UniSTS:18061

G09356 (e-PCR)
- UniSTS:26779

D7S2860 (e-PCR)
- UniSTS:31904

WI-5281 (e-PCR)
- UniSTS:35239

RH47469 (e-PCR)
- UniSTS:83388

D7S1763 (e-PCR)
- UniSTS:35776

AFM287vc9 (e-PCR)
- UniSTS:16581

G19737 (e-PCR)
- UniSTS:61906

A001X05 (e-PCR)
- UniSTS:61907

SHGC-78648 (e-PCR)
- UniSTS:102102

SHGC-81001 (e-PCR)
- UniSTS:102623

SHGC-110126 (e-PCR)
- UniSTS:170213

G17137 (e-PCR)
- UniSTS:14332

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

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
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
located_in mitochondrion	HTP more info	PubMed

General protein information

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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

EC 3.4.21.-

NP_001337888.1

EC 3.4.21.-

NP_001337889.1

EC 3.4.21.-

NP_001337890.1

EC 3.4.21.-

NP_001337891.1

EC 3.4.21.-

NP_001337892.1

EC 3.4.21.-

NP_001337893.1

EC 3.4.21.-

NP_115938.1

EC 3.4.21.-

XP_011514911.1

EC 3.4.21.-

XP_016868188.1

EC 3.4.21.-

XP_016868189.1

EC 3.4.21.-

XP_016868190.1

EC 3.4.21.-

XP_016868191.1

EC 3.4.21.-

XP_016868192.1

EC 3.4.21.-

XP_024302725.1

EC 3.4.21.-

XP_024302726.1

EC 3.4.21.-

XP_024302728.1

EC 3.4.21.-

XP_024302729.1

EC 3.4.21.-

XP_047276879.1

EC 3.4.21.-

XP_047276880.1

EC 3.4.21.-

XP_047276881.1

EC 3.4.21.-

XP_047276882.1

EC 3.4.21.-

XP_047276883.1

EC 3.4.21.-

XP_047276884.1

EC 3.4.21.-

XP_047276885.1

EC 3.4.21.-

XP_047276886.1

EC 3.4.21.-

XP_047276887.1

EC 3.4.21.-

XP_047276888.1

EC 3.4.21.-

XP_054215151.1

EC 3.4.21.-

XP_054215152.1

EC 3.4.21.-

XP_054215153.1

EC 3.4.21.-

XP_054215154.1

EC 3.4.21.-

XP_054215155.1

EC 3.4.21.-

XP_054215156.1

EC 3.4.21.-

XP_054215157.1

EC 3.4.21.-

XP_054215158.1

EC 3.4.21.-

XP_054215159.1

EC 3.4.21.-

XP_054215160.1

EC 3.4.21.-

XP_054215161.1

EC 3.4.21.-

NCBI Reference Sequences (RefSeq)

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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

NG_030016.2 RefSeqGene

Range

5026..904874

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001244606.2 → NP_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:33 → 152

sigpep_I_bact; signal peptidase I, bacterial type
NM_001350959.2 → NP_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:33 → 152

sigpep_I_bact; signal peptidase I, bacterial type
NM_001350960.2 → NP_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:33 → 152

sigpep_I_bact; signal peptidase I, bacterial type
NM_001350961.2 → NP_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:33 → 180

Peptidase_S26; Signal peptidase, peptidase S26
NM_001350962.2 → NP_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:36 → 99

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 ...
NM_001350963.2 → NP_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:36 → 99

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 ...
NM_001350964.3 → NP_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:36 → 81

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 ...
NM_032549.4 → NP_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:33 → 152

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

110662644..111562492 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047420925.1 → XP_047276881.1 mitochondrial inner membrane protease subunit 2 isoform X1
XM_047420929.1 → XP_047276885.1 mitochondrial inner membrane protease subunit 2 isoform X6
XM_011516609.3 → XP_011514911.1 mitochondrial inner membrane protease subunit 2 isoform X4

Conserved Domains (1) summary

cd06530
Location:36 → 127

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 ...
XM_047420930.1 → XP_047276886.1 mitochondrial inner membrane protease subunit 2 isoform X6
XM_047420927.1 → XP_047276883.1 mitochondrial inner membrane protease subunit 2 isoform X4
XM_047420928.1 → XP_047276884.1 mitochondrial inner membrane protease subunit 2 isoform X5
XM_017012701.2 → XP_016868190.1 mitochondrial inner membrane protease subunit 2 isoform X8
XM_017012700.2 → XP_016868189.1 mitochondrial inner membrane protease subunit 2 isoform X7
XM_017012702.2 → XP_016868191.1 mitochondrial inner membrane protease subunit 2 isoform X8
XM_047420923.1 → XP_047276879.1 mitochondrial inner membrane protease subunit 2 isoform X8
XM_017012699.2 → XP_016868188.1 mitochondrial inner membrane protease subunit 2 isoform X7
XM_047420924.1 → XP_047276880.1 mitochondrial inner membrane protease subunit 2 isoform X8
XM_047420926.1 → XP_047276882.1 mitochondrial inner membrane protease subunit 2 isoform X3
XM_017012703.2 → XP_016868192.1 mitochondrial inner membrane protease subunit 2 isoform X2
XM_024446957.2 → XP_024302725.1 mitochondrial inner membrane protease subunit 2 isoform X9

Conserved Domains (1) summary

cd06530
Location:36 → 77

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 ...
XM_024446960.2 → XP_024302728.1 mitochondrial inner membrane protease subunit 2 isoform X12

UniProtKB/TrEMBL

C9JVB0

Conserved Domains (1) summary

cd06530
Location:36 → 77

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 ...
XM_024446961.2 → XP_024302729.1 mitochondrial inner membrane protease subunit 2 isoform X13

UniProtKB/TrEMBL

C9JVB0

Conserved Domains (1) summary

cd06530
Location:36 → 77

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 ...
XM_047420931.1 → XP_047276887.1 mitochondrial inner membrane protease subunit 2 isoform X11
XM_047420932.1 → XP_047276888.1 mitochondrial inner membrane protease subunit 2 isoform X14

UniProtKB/TrEMBL

C9JVB0

Conserved Domains (1) summary

cd06530
Location:36 → 81

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 ...
XM_024446958.2 → XP_024302726.1 mitochondrial inner membrane protease subunit 2 isoform X10

Conserved Domains (1) summary

cd06530
Location:36 → 77

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

XR_007060162.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

111980964..112880817 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054359178.1 → XP_054215153.1 mitochondrial inner membrane protease subunit 2 isoform X1
XM_054359186.1 → XP_054215161.1 mitochondrial inner membrane protease subunit 2 isoform X6
XM_054359184.1 → XP_054215159.1 mitochondrial inner membrane protease subunit 2 isoform X4
XM_054359185.1 → XP_054215160.1 mitochondrial inner membrane protease subunit 2 isoform X5
XM_054359180.1 → XP_054215155.1 mitochondrial inner membrane protease subunit 2 isoform X16
XM_054359177.1 → XP_054215152.1 mitochondrial inner membrane protease subunit 2 isoform X15
XM_054359181.1 → XP_054215156.1 mitochondrial inner membrane protease subunit 2 isoform X16
XM_054359179.1 → XP_054215154.1 mitochondrial inner membrane protease subunit 2 isoform X16
XM_054359176.1 → XP_054215151.1 mitochondrial inner membrane protease subunit 2 isoform X15
XM_054359183.1 → XP_054215158.1 mitochondrial inner membrane protease subunit 2 isoform X3
XM_054359182.1 → XP_054215157.1 mitochondrial inner membrane protease subunit 2 isoform X2