CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4)

2015-08-01  

Identity

HGNC
CNNM4
LOCATION
2q11.2
LOCUSID
26504
ALIAS
ACDP4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26504
MIM: 607805
HGNC: 105
Ensembl: ENSG00000158158

Variants:

dbSNP: 26504
ClinVar: 26504
TCGA: ENSG00000158158
COSMIC: CNNM4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158158ENST00000377075Q6P4Q7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
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
192005252009Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.51
192005272009Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.31
243397952013Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model.24
247067652014Mg2+-dependent interactions of ATP with the cystathionine-β-synthase (CBS) domains of a magnesium transporter.22
253474732014Membrane protein CNNM4-dependent Mg2+ efflux suppresses tumor progression.22
241949432013Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.11
270061142016The Mg2+ transporter CNNM4 regulates sperm Ca2+ homeostasis and is essential for reproduction.9
213938412011Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4.7
270703272017A new familial case of Jalili syndrome caused by a novel mutation in CNNM4.5
282460312017Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.5

Citation

Dessen P

CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4)

Atlas Genet Cytogenet Oncol Haematol. 2015-08-01

Online version: http://atlasgeneticsoncology.org/gene/55382/cnnm4