ZC4H2 (zinc finger C4H2-type containing)

2003-06-01  

Identity

HGNC
ZC4H2
LOCATION
Xq11.2
LOCUSID
55906
ALIAS
HCA127,KIAA1166,MCS,MRXS4,WRWF,WRWFFR,WWS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55906
MIM: 309605
HGNC: 24931
Ensembl: ENSG00000126970

Variants:

dbSNP: 55906
ClinVar: 55906
TCGA: ENSG00000126970
COSMIC: ZC4H2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126970ENST00000337990Q9NQZ6
ENSG00000126970ENST00000374839Q9NQZ6
ENSG00000126970ENST00000447788Q9NQZ6

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
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
236233882013ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.15
260562272015ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.11
283458012017ZC4H2 deletions can cause severe phenotype in female carriers.4
312069722019Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.2

Citation

Dessen P

ZC4H2 (zinc finger C4H2-type containing)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/40793/zc4h2