EFCAB1 (EF-hand calcium binding domain 1)

2014-11-01  

Identity

HGNC
EFCAB1
LOCATION
8q11.21
LOCUSID
79645
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79645
HGNC: 25678
Ensembl: ENSG00000034239

Variants:

dbSNP: 79645
ClinVar: 79645
TCGA: ENSG00000034239
COSMIC: EFCAB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000034239ENST00000262103Q9HAE3
ENSG00000034239ENST00000262103A0A024R7U5
ENSG00000034239ENST00000433756Q9HAE3
ENSG00000034239ENST00000433756A0A024R7U7
ENSG00000034239ENST00000521701H9KVD9
ENSG00000034239ENST00000522254H0YC53
ENSG00000034239ENST00000523008H0YBJ9
ENSG00000034239ENST00000523092Q9HAE3
ENSG00000034239ENST00000523092A0A024R7U7

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
367275962023Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.3
367275962023Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.3
204791552010Blood pressure and hypertension are associated with 7 loci in the Japanese population.81
204791552010Blood pressure and hypertension are associated with 7 loci in the Japanese population.81

Citation

Dessen P

EFCAB1 (EF-hand calcium binding domain 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62734/gene-fusions-explorer/css/favicon/manifest.json