PITPNM2 (phosphatidylinositol transfer protein membrane associated 2)

2007-04-01  

Identity

HGNC
PITPNM2
LOCATION
12q24.31
LOCUSID
57605
ALIAS
NIR-3,NIR3,RDGB2,RDGBA2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57605
MIM: 608920
HGNC: 21044
Ensembl: ENSG00000090975

Variants:

dbSNP: 57605
ClinVar: 57605
TCGA: ENSG00000090975
COSMIC: PITPNM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000090975ENST00000280562Q9BZ72
ENSG00000090975ENST00000320201Q9BZ72
ENSG00000090975ENST00000541244F5H361
ENSG00000090975ENST00000542210F5H664
ENSG00000090975ENST00000542749Q9BZ72
ENSG00000090975ENST00000546049S4R414

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PIREACTOMER-HSA-1483226

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
281955732017Whole-exome sequencing of individuals from an isolated population implicates rare risk variants in bipolar disorder.6

Citation

Dessen P

PITPNM2 (phosphatidylinositol transfer protein membrane associated 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47269/pitpnm2