FRMPD4 (FERM and PDZ domain containing 4)

2014-11-01 Affiliation

Identity

HGNC

FRMPD4

LOCATION

Xp22.2

LOCUSID

9758

ALIAS

MRX104,PDZD10,PDZK10

FUSION GENES

Show Gene Fusions

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: 9758
MIM: 300838
HGNC: 29007
Ensembl: ENSG00000169933

Variants:

dbSNP: 9758
ClinVar: 9758
TCGA: ENSG00000169933
COSMIC: FRMPD4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000169933	ENST00000380682	Q14CM0
ENSG00000169933	ENST00000616992	A0A087WYX8
ENSG00000169933	ENST00000640291	A0A1W2PQW0
ENSG00000169933	ENST00000656302	A0A590UJL7
ENSG00000169933	ENST00000657176	A0A590UJI1

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
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
19118189	2008	Preso, a novel PSD-95-interacting FERM and PDZ domain protein that regulates dendritic spine morphogenesis.	16
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
25664792	2015	Structural basis for the recognition of the scaffold protein Frmpd4/Preso1 by the TPR domain of the adaptor protein LGN.	4
26555035	2016	Possibility of a sex-specific role for a genetic variant in FRMPD4 in schizophrenia, but not cognitive function.	3
29267967	2018	FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.	0

Citation

Dessen P

FRMPD4 (FERM and PDZ domain containing 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63603/frmpd4