ELFN1 (extracellular leucine rich repeat and fibronectin type III domain containing 1)

2014-11-01 Affiliation

Identity

HGNC

ELFN1

LOCATION

7p22.3

LOCUSID

392617

ALIAS

PPP1R28

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: 392617
MIM: 614964
HGNC: 33154
Ensembl: ENSG00000225968

Variants:

dbSNP: 392617
ClinVar: 392617
TCGA: ENSG00000225968
COSMIC: ELFN1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000225968	ENST00000424383	P0C7U0
ENSG00000225968	ENST00000561626	P0C7U0

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

References

Pubmed ID	Year	Title	Citations
34509675	2021	Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.	2
34509675	2021	Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.	2
29686062	2018	Synaptic adhesion protein ELFN1 is a selective allosteric modulator of group III metabotropic glutamate receptors in trans.	35
29686062	2018	Synaptic adhesion protein ELFN1 is a selective allosteric modulator of group III metabotropic glutamate receptors in trans.	35
25047565	2014	Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.	61
25047565	2014	Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.	61

Citation

Dessen P

ELFN1 (extracellular leucine rich repeat and fibronectin type III domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62791/teaching-explorer/favicon/css/template-nav.css