MFRP (membrane frizzled-related protein)

2014-11-01 Affiliation

Identity

HGNC

MFRP

LOCATION

11q23.3

LOCUSID

83552

ALIAS

CTRP5,MCOP5,NNO2,RD6

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 83552
MIM: 606227
HGNC: 18121
Ensembl: ENSG00000235718

Variants:

dbSNP: 83552
ClinVar: 83552
TCGA: ENSG00000235718
COSMIC: MFRP

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000235718	ENST00000360167	Q9BY79
ENSG00000235718	ENST00000449574	A0A0X1KG76
ENSG00000235718	ENST00000619721	Q9BY79
ENSG00000235718	ENST00000634542	A0A0U1RQG2

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
15976030	2005	Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.	60
12944416	2003	Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.	55
17167404	2006	A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.	40
18554571	2008	A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.	29
18363166	2008	Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization.	25
19753314	2009	Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.	24
20361016	2010	A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.	18
23127749	2013	Biometric and molecular characterization of clinically diagnosed posterior microphthalmos.	16
18648522	2008	Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.	13
22605927	2012	Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.	13

Citation

Dessen P

MFRP (membrane frizzled-related protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68935/mfrp