ZFYVE9 (zinc finger FYVE-type containing 9)

2003-06-01  

Identity

HGNC
ZFYVE9
LOCATION
1p32.3
LOCUSID
9372
ALIAS
MADHIP,NSP,PPP1R173,SARA,SMADIP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9372
MIM: 603755
HGNC: 6775
Ensembl: ENSG00000157077

Variants:

dbSNP: 9372
ClinVar: 9372
TCGA: ENSG00000157077
COSMIC: ZFYVE9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157077ENST00000287727O95405
ENSG00000157077ENST00000357206O95405
ENSG00000157077ENST00000371591O95405

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
TGF-beta signaling pathwayKEGGko04350
TGF-beta signaling pathwayKEGGhsa04350
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by TGF-beta Receptor Complex in CancerREACTOMER-HSA-3304351
Loss of Function of SMAD2/3 in CancerREACTOMER-HSA-3304349
SMAD2/3 Phosphorylation Motif Mutants in CancerREACTOMER-HSA-3304356
SMAD2/3 MH2 Domain Mutants in CancerREACTOMER-HSA-3315487
Loss of Function of TGFBR1 in CancerREACTOMER-HSA-3656534
TGFBR1 KD Mutants in CancerREACTOMER-HSA-3656532
Signal TransductionREACTOMER-HSA-162582
Signaling by TGF-beta Receptor ComplexREACTOMER-HSA-170834
TGF-beta receptor signaling activates SMADsREACTOMER-HSA-2173789
Downregulation of TGF-beta receptor signalingREACTOMER-HSA-2173788

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
376414372023Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.1
376414372023Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.1
322832532020SMURF2 and SMAD7 induce SARA degradation via the proteasome.1
322832532020SMURF2 and SMAD7 induce SARA degradation via the proteasome.1
308477242019Smad Anchor for Receptor Activation and Phospho-Smad3 Were Upregulated in Patients with Temporal Lobe Epilepsy.3
308477242019Smad Anchor for Receptor Activation and Phospho-Smad3 Were Upregulated in Patients with Temporal Lobe Epilepsy.3
256146222015Phosphatidylinositol 3-kinase class II α-isoform PI3K-C2α is required for transforming growth factor β-induced Smad signaling in endothelial cells.20
261591832015Smad Anchor for Receptor Activation Regulates High Glucose-Induced EMT via Modulation of Smad2 and Smad3 Activities in Renal Tubular Epithelial Cells.5
263585132015Endofin, a novel BMP-SMAD regulator of the iron-regulatory hormone, hepcidin.13
256146222015Phosphatidylinositol 3-kinase class II α-isoform PI3K-C2α is required for transforming growth factor β-induced Smad signaling in endothelial cells.20
261591832015Smad Anchor for Receptor Activation Regulates High Glucose-Induced EMT via Modulation of Smad2 and Smad3 Activities in Renal Tubular Epithelial Cells.5
263585132015Endofin, a novel BMP-SMAD regulator of the iron-regulatory hormone, hepcidin.13
232227152013SARA and RNF11 interact with each other and ESCRT-0 core proteins and regulate degradative EGFR trafficking.16
232227152013SARA and RNF11 interact with each other and ESCRT-0 core proteins and regulate degradative EGFR trafficking.16
228198272012SARA is dispensable for functional TGF-β signaling.19

Citation

Dessen P

ZFYVE9 (zinc finger FYVE-type containing 9)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41233/zfyve9-(zinc-finger-fyve-type-containing-9)