EFHD1 (EF-hand domain family member D1)

2014-11-01  

Identity

HGNC
EFHD1
LOCATION
2q37.1
LOCUSID
80303
ALIAS
MST133,MSTP133,PP3051,SWS2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80303
MIM: 611617
HGNC: 29556
Ensembl: ENSG00000115468

Variants:

dbSNP: 80303
ClinVar: 80303
TCGA: ENSG00000115468
COSMIC: EFHD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115468ENST00000264059Q9BUP0
ENSG00000115468ENST00000409613Q9BUP0
ENSG00000115468ENST00000409708Q8WYH2
ENSG00000115468ENST00000410095Q8WYH2
ENSG00000115468ENST00000427698C9JTV4
ENSG00000115468ENST00000442845H7C0I0
ENSG00000115468ENST00000611312A0A087X1Z2

Expression (GTEx)

0
50
100
150
200
250
300
350
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
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
248614852014Aberrant promoter methylation of PPP1R3C and EFHD1 in plasma of colorectal cancer patients.9
269758992016Identification of EFHD1 as a novel Ca(2+) sensor for mitoflash activation.7
122701172002Novel genes cloned from a neuronal cell line newly established from a cerebellum of an adult p53(-/-) mouse.6

Citation

Dessen P

EFHD1 (EF-hand domain family member D1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62750/efhd1