IMMP2L (inner mitochondrial membrane peptidase subunit 2)

2016-10-01  

Identity

HGNC
IMMP2L
LOCATION
7q31.1
LOCUSID
83943
ALIAS
IMMP2L-IT1,IMP2,IMP2-LIKE
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Protein exportKEGGko03060
Protein exportKEGGhsa03060

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
195468592010Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.189
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
194016822010High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.52
194016822010High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.52
229483832012Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism.35
203989082010Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.32
190587892009A common variant in DRD3 receptor is associated with autism spectrum disorder.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
245490572014Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.16

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