IMPG1 (interphotoreceptor matrix proteoglycan 1)

2014-11-01  

Identity

HGNC
IMPG1
LOCATION
6q14.1
LOCUSID
3617
ALIAS
GP147,IPM150,SPACR,VMD4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3617
MIM: 602870
HGNC: 6055
Ensembl: ENSG00000112706

Variants:

dbSNP: 3617
ClinVar: 3617
TCGA: ENSG00000112706
COSMIC: IMPG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112706ENST00000369950Q17R60
ENSG00000112706ENST00000369952Q5JSC4
ENSG00000112706ENST00000369963A0A0R4J2E9
ENSG00000112706ENST00000611179A0A087WYL3

Expression (GTEx)

0
1
2
3
4
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
retina
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
239931982013Mutations in IMPG1 cause vitelliform macular dystrophies.15
250856312014Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.10
146911502004The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.7
297779592018Extracellular matrix component expression in human pluripotent stem cell-derived retinal organoids recapitulates retinogenesis in vivo and reveals an important role for IMPG1 and CD44 in the development of photoreceptors and interphotoreceptor matrix.6
106017381999Expression and characterization of the IPM 150 gene (IMPG1) product, a novel human photoreceptor cell-associated chondroitin-sulfate proteoglycan.4
163546212005Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.2

Citation

Dessen P

IMPG1 (interphotoreceptor matrix proteoglycan 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64613/impg1