LHFPL5 (LHFPL tetraspan subfamily member 5)

2016-10-01 Affiliation

Identity

HGNC

LHFPL5

LOCATION

6p21.31

LOCUSID

222662

ALIAS

DFNB67,TMHS,dJ510O8.8

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: 222662
MIM: 609427
HGNC: 21253
Ensembl: ENSG00000197753

Variants:

dbSNP: 222662
ClinVar: 222662
TCGA: ENSG00000197753
COSMIC: LHFPL5

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000197753	ENST00000360215	Q8TAF8
ENSG00000197753	ENST00000651132	Q8TAF8
ENSG00000197753	ENST00000651676	Q8TAF8
ENSG00000197753	ENST00000651994	A0A494BZZ7
ENSG00000197753	ENST00000652718	A0A494C136

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
15905332	2005	A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.	45
16459341	2006	Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.	31
19102128	2008	Unique transgenic animal model for hereditary hearing loss.	3
21816241	2011	DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.	3
26437881	2016	Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.	2
26964900	2016	Novel function of LHFPL2 in female and male distal reproductive tract development.	2
30177809	2018	Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.	0
30298622	2019	High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.	0
30476627	2019	LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss.	0

Citation

Dessen P

LHFPL5 (LHFPL tetraspan subfamily member 5)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56500/lhfpl5