FRMD7 (FERM domain containing 7)

2014-01-01  

Identity

HGNC
FRMD7
LOCATION
Xq26.2
LOCUSID
90167
ALIAS
NYS,NYS1,XIPAN

Other Information

Locus ID:

NCBI: 90167
MIM: 300628
HGNC: 8079
Ensembl: ENSG00000165694

Variants:

dbSNP: 90167
ClinVar: 90167
TCGA: ENSG00000165694
COSMIC: FRMD7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165694ENST00000298542Q6ZUT3
ENSG00000165694ENST00000370879X6R7S7
ENSG00000165694ENST00000464296Q6ZUT3

Expression (GTEx)

0
1
2
3
4
5
6
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
N/A

References

Pubmed IDYearTitleCitations
170133952006Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.53
198927802010The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development.26
173970532007Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.23
183723142008Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.23
178936692007Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.22
234068722013A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.19
177683762007FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.17
184314532008Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.16
178463672007Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.15
213038552011The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.14

Citation

Dessen P

FRMD7 (FERM domain containing 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53660/frmd7