DZIP1L (DAZ interacting zinc finger protein 1 like)

2017-10-01  

Identity

HGNC
DZIP1L
LOCATION
3q22.3
LOCUSID
199221
ALIAS
DZIP2,PKD5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 199221
MIM: 617570
HGNC: 26551
Ensembl: ENSG00000158163

Variants:

dbSNP: 199221
ClinVar: 199221
TCGA: ENSG00000158163
COSMIC: DZIP1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158163ENST00000327532Q8IYY4
ENSG00000158163ENST00000467030C9JD19
ENSG00000158163ENST00000469243Q8IYY4
ENSG00000158163ENST00000486487H7C4G2
ENSG00000158163ENST00000492010C9JRW2

Expression (GTEx)

0
5
10
15
20
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

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
285306762017Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.28
287364322017Polycystic kidney disease: DZIP1L defines a new functional zip code for autosomal recessive PKD.2

Citation

Dessen P

DZIP1L (DAZ interacting zinc finger protein 1 like)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57104/dzip1l