PDZD11 (PDZ domain containing 11)

2014-11-01  

Identity

HGNC
PDZD11
LOCATION
Xq13.1
LOCUSID
51248
ALIAS
AIPP1,PDZK11,PISP

Other Information

Locus ID:

NCBI: 51248
MIM: 300632
HGNC: 28034
Ensembl: ENSG00000120509

Variants:

dbSNP: 51248
ClinVar: 51248
TCGA: ENSG00000120509
COSMIC: PDZD11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120509ENST00000239666Q5EBL8
ENSG00000120509ENST00000374454Q5EBL8

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of vitamins, nucleosides, and related moleculesREACTOMER-HSA-425397
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamin B5 (pantothenate) metabolismREACTOMER-HSA-199220
Biotin transport and metabolismREACTOMER-HSA-196780
Antimicrobial peptidesREACTOMER-HSA-6803157
Ion influx/efflux at host-pathogen interfaceREACTOMER-HSA-6803544

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
211836592011Association of PDZ-containing protein PDZD11 with the human sodium-dependent multivitamin transporter.11
270447452016PLEKHA7 Recruits PDZD11 to Adherens Junctions to Stabilize Nectins.6

Citation

Dessen P

PDZD11 (PDZ domain containing 11)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71814/pdzd11