EFHC2 (EF-hand domain containing 2)

2017-08-01  

Identity

HGNC
EFHC2
LOCATION
Xp11.3
LOCUSID
80258
ALIAS
MRX74,dJ1158H2.1

Other Information

Locus ID:

NCBI: 80258
MIM: 300817
HGNC: 26233
Ensembl: ENSG00000183690

Variants:

dbSNP: 80258
ClinVar: 80258
TCGA: ENSG00000183690
COSMIC: EFHC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183690ENST00000420999Q5JST6

Expression (GTEx)

0
5
10
15
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
171642672007Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome.10
161128442005A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy.8
179488982008EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome.6
179488982008EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome.6
194290022009Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance.4
194290022009Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance.4
261077792015Variation in the X-linked EFHC2 gene is associated with social cognitive abilities in males.4
269580222015No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy.2
293213612017A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.0

Citation

Dessen P

EFHC2 (EF-hand domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/57039/efhc2