IMMP2L (inner mitochondrial membrane peptidase subunit 2)

2016-10-01  

Identity

HGNC
LOCATION
7q31.1
LOCUSID
ALIAS
IMMP2L-IT1,IMP2,IMP2-LIKE
FUSION GENES

Other Information

Locus ID:

NCBI: 83943
MIM: 605977
HGNC: 14598
Ensembl: ENSG00000184903

Variants:

dbSNP: 83943
ClinVar: 83943
TCGA: ENSG00000184903
COSMIC: IMMP2L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184903ENST00000331762Q96T52
ENSG00000184903ENST00000331762A4D0S9
ENSG00000184903ENST00000405709Q96T52
ENSG00000184903ENST00000405709A4D0S9
ENSG00000184903ENST00000437687A0A0C4DG32
ENSG00000184903ENST00000447215Q96T52
ENSG00000184903ENST00000450877C9JQE1
ENSG00000184903ENST00000452753C9JVB0
ENSG00000184903ENST00000452895Q96T52
ENSG00000184903ENST00000452895A4D0S9

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Protein exportKEGGko03060
Protein exportKEGGhsa03060

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
357767342022Exonic deletions in IMMP2L in schizophrenia with enhanced glycation stress subtype.2
357767342022Exonic deletions in IMMP2L in schizophrenia with enhanced glycation stress subtype.2
338490372021Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay.6
338490372021Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay.6
291528452018Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis.9
297880202018Genomic Deletion Involving the IMMP2L Gene in Two Cases of Autism Spectrum Disorder.7
291528452018Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis.9
297880202018Genomic Deletion Involving the IMMP2L Gene in Two Cases of Autism Spectrum Disorder.7
279322442017Transcriptional response to mitochondrial protease IMMP2L knockdown in human primary astrocytes.3
283160222017Suppression of Inner Mitochondrial Membrane Peptidase 2-Like (IMMP2L) Gene Exacerbates Hypoxia-Induced Neural Death Under High Glucose Condition.4
279322442017Transcriptional response to mitochondrial protease IMMP2L knockdown in human primary astrocytes.3
283160222017Suppression of Inner Mitochondrial Membrane Peptidase 2-Like (IMMP2L) Gene Exacerbates Hypoxia-Induced Neural Death Under High Glucose Condition.4
273562652016Novel IGH and MYC Translocation Partners in Diffuse Large B-Cell Lymphomas.5
273562652016Novel IGH and MYC Translocation Partners in Diffuse Large B-Cell Lymphomas.5
245490572014Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.32

Citation

Dessen P

IMMP2L (inner mitochondrial membrane peptidase subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56152/immp2l-(inner-mitochondrial-membrane-peptidase-subunit-2)