EFHC1 (EF-hand domain containing 1)

2008-07-01 Affiliation

Identity

HGNC

EFHC1

LOCATION

6p12.2

LOCUSID

114327

ALIAS

EJM1,POC9,RIB72,dJ304B14.2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 114327
MIM: 608815
HGNC: 16406
Ensembl: ENSG00000096093

Variants:

dbSNP: 114327
ClinVar: 114327
TCGA: ENSG00000096093
COSMIC: EFHC1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000096093	ENST00000371068	Q5JVL4
ENSG00000096093	ENST00000371068	B2CKC5
ENSG00000096093	ENST00000480623	A0A1C7CYY1
ENSG00000096093	ENST00000538167	Q5JVL4
ENSG00000096093	ENST00000635760	A0A1B0GTM7
ENSG00000096093	ENST00000635812	A0A1B0GWB3
ENSG00000096093	ENST00000635866	A0A1B0GTW5
ENSG00000096093	ENST00000635963	A0A1B0GTV4
ENSG00000096093	ENST00000635984	A0A1B0GU13
ENSG00000096093	ENST00000635996	A0A1B0GUV2
ENSG00000096093	ENST00000636107	A0A1B0GTF7
ENSG00000096093	ENST00000636343	A0A1B0GUP6
ENSG00000096093	ENST00000636379	A0A1B0GVR3
ENSG00000096093	ENST00000636398	A0A1B0GTD7
ENSG00000096093	ENST00000636489	Q5JVL4
ENSG00000096093	ENST00000636566	A0A1B0GVP6
ENSG00000096093	ENST00000636702	A0A1B0GTB1
ENSG00000096093	ENST00000636954	Q5JVL4
ENSG00000096093	ENST00000637089	A0A1B0GTV6
ENSG00000096093	ENST00000637200	A0A1B0GTW5
ENSG00000096093	ENST00000637263	A0A1B0GTH2
ENSG00000096093	ENST00000637315	A0A1B0GTH7
ENSG00000096093	ENST00000637353	A0A1B0GVB0
ENSG00000096093	ENST00000637602	A0A1B0GUE4
ENSG00000096093	ENST00000637874	A0A1B0GV27
ENSG00000096093	ENST00000638075	A0A1B0GVZ5

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
15258581	2004	Mutations in EFHC1 cause juvenile myoclonic epilepsy.	57
15258581	2004	Mutations in EFHC1 cause juvenile myoclonic epilepsy.	57
20201926	2010	Human variation in alcohol response is influenced by variation in neuronal signaling genes.	45
17159113	2006	Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.	17
18505993	2008	Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.	16
23756480	2013	The quest for juvenile myoclonic epilepsy genes.	14
22926142	2012	Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.	12
17634063	2007	Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.	10
22226147	2012	The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.	9

Citation

Dessen P

EFHC1 (EF-hand domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50220/efhc1-(ef-hand-domain-containing-1)