IMPG2 (interphotoreceptor matrix proteoglycan 2)

2014-08-01  

Identity

HGNC
IMPG2
LOCATION
3q12.3
LOCUSID
50939
ALIAS
IPM200,RP56,SPACRCAN,VMD5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 50939
MIM: 607056
HGNC: 18362
Ensembl: ENSG00000081148

Variants:

dbSNP: 50939
ClinVar: 50939
TCGA: ENSG00000081148
COSMIC: IMPG2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000081148ENST00000193391Q9BZV3
ENSG00000081148ENST00000193391F1T0J3

Expression (GTEx)

0
1
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
206738622010Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.30
250856312014Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.10
248762792014IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.7
105421331999Molecular characterization and genomic mapping of human IPM 200, a second member of a novel family of proteoglycans.3
312649162019Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations.1

Citation

Dessen P

IMPG2 (interphotoreceptor matrix proteoglycan 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54378/impg2