PITPNM3 (PITPNM family member 3)

2007-04-01  

Identity

HGNC
LOCATION
17p13.2
LOCUSID
ALIAS
ACKR6,CORD5,NIR1,RDGBA3
FUSION GENES

Other Information

Locus ID:

NCBI: 83394
MIM: 608921
HGNC: 21043
Ensembl: ENSG00000091622

Variants:

dbSNP: 83394
ClinVar: 83394
TCGA: ENSG00000091622
COSMIC: PITPNM3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000091622ENST00000262483Q9BZ71
ENSG00000091622ENST00000421306Q9BZ71
ENSG00000091622ENST00000575201I3L1K1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

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

References

Pubmed IDYearTitleCitations
214817942011CCL18 from tumor-associated macrophages promotes breast cancer metastasis via PITPNM3.169
240016132013Nir1 promotes invasion of breast cancer cells by binding to chemokine (C-C motif) ligand 18 through the PI3K/Akt/GSK3β/Snail signalling pathway.26
173775202007Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.19
264498292016CCL18/PITPNM3 enhances migration, invasion, and EMT through the NF-κB signaling pathway in hepatocellular carcinoma.13
267561762016CC chemokine ligand 18(CCL18) promotes migration and invasion of lung cancer cells by binding to Nir1 through Nir1-ELMO1/DOC180 signaling pathway.11
224053302013Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.3
181889492008Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.2
205903642010PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.1

Citation

Dessen P

PITPNM3 (PITPNM family member 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47499/pitpnm3