EFHD2 (EF-hand domain family member D2)

2014-08-01  

Identity

HGNC
EFHD2
LOCATION
1p36.21
LOCUSID
79180
ALIAS
SWS1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79180
MIM: 616450
HGNC: 28670
Ensembl: ENSG00000142634

Variants:

dbSNP: 79180
ClinVar: 79180
TCGA: ENSG00000142634
COSMIC: EFHD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142634ENST00000375980Q96C19
ENSG00000142634ENST00000375980A0A024QZ77
ENSG00000142634ENST00000445566H0Y4Y4

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
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
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.56
204710302010Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.42
219656642011hSWS1·SWSAP1 is an evolutionarily conserved complex required for efficient homologous recombination repair.33
152741142004Identification of swiprosin 1 in human lymphocytes.24
239770922013Swiprosin-1 is a novel actin bundling protein that regulates cell spreading and migration.21
233310442013EFhd2 is a novel amyloid protein associated with pathological tau in Alzheimer's disease.20
196937672009Swiprosin-1 is expressed in mast cells and up-regulated through the protein kinase C beta I/eta pathway.17
239591722013Swiprosin-1 modulates actin dynamics by regulating the F-actin accessibility to cofilin.17
253836392014The calcium-binding protein EFhd2 modulates synapse formation in vitro and is linked to human dementia.10
249171522014Cdk5 phosphorylation of EFhd2 at S74 affects its calcium binding activity.7

Citation

Dessen P

EFHD2 (EF-hand domain family member D2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54274/efhd2-(ef-hand-domain-family-member-d2)