LHFPL4 LHFPL tetraspan subfamily member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LHFPL4provided by HGNC
Official Full Name: LHFPL tetraspan subfamily member 4provided by HGNC
Primary source: HGNC:HGNC:29568
See related: Ensembl:ENSG00000156959 MIM:610240; AllianceGenome:HGNC:29568
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GARLH4
Summary: This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 3.9) and adrenal (RPKM 0.5) See more
Orthologs: mouse all
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Genomic context

Location:: 3p25.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (9498361..9553822, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (9490279..9545747, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (9540045..9595506, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
The authors present an overview of the LHFP gene family in mouse and humans
Title: A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-173187 (e-PCR)
- UniSTS:185344

G32704 (e-PCR)
- UniSTS:117286

D3S4027 (e-PCR)
- UniSTS:473642

D3S3996 (e-PCR)
- UniSTS:20801

SHGC-35887 (e-PCR)
- UniSTS:80969

SHGC-76682 (e-PCR)
- UniSTS:69504

NoName (e-PCR)
- UniSTS:487337

Cda0ta01 (e-PCR)
- UniSTS:76203

A009O18 (e-PCR)
- UniSTS:54996

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GABA receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in gamma-aminobutyric acid receptor clustering	IBA Inferred from Biological aspect of Ancestor more info
involved_in gamma-aminobutyric acid receptor clustering	ISS Inferred from Sequence or Structural Similarity more info
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info
involved_in regulation of inhibitory synapse assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in sensory perception of sound	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
is_active_in inhibitory synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in inhibitory synapse	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic specialization	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: LHFPL tetraspan subfamily member 4 protein

Names: GABAA receptor regulatory Lhfpl4; LHFP-like protein 4; lipoma HMGIC fusion partner-like 4 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.