LHFPL6 LHFPL tetraspan subfamily member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LHFPL6provided by HGNC
Official Full Name: LHFPL tetraspan subfamily member 6provided by HGNC
Primary source: HGNC:HGNC:6586
See related: Ensembl:ENSG00000183722 MIM:606710; AllianceGenome:HGNC:6586
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: LHFP
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. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008]
Expression: Broad expression in fat (RPKM 71.3), placenta (RPKM 69.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q13.3-q14.11

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (39342892..39603193, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (38562524..38821662, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (39917029..40177330, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Amplification of the LHFP gene is associated with mesenchymal differentiation in gliosarcoma.
Title: Amplification of the STOML3, FREM2, and LHFP genes is associated with mesenchymal differentiation in gliosarcoma.
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

EBI GWAS Catalog

Description
Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple loci influencing hippocampal degeneration identified by genome scan. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH44814 (e-PCR)
- UniSTS:26912

RH45065 (e-PCR)
- UniSTS:42849

SHGC-153466 (e-PCR)
- UniSTS:177766

SHGC-34363 (e-PCR)
- UniSTS:11117

RH68375 (e-PCR)
- UniSTS:23936

D13S1253 (e-PCR), detects polymorphism
- UniSTS:33410

RH46117 (e-PCR)
- UniSTS:60058

WIAF-1647 (e-PCR)
- UniSTS:31401

G17714 (e-PCR)
- UniSTS:49067

SHGC-154037 (e-PCR)
- UniSTS:182704

SHGC-155177 (e-PCR)
- UniSTS:182721

A004V01 (e-PCR)
- UniSTS:16855

LHFP (e-PCR)
- UniSTS:505303

D13S947 (e-PCR)
- UniSTS:152283

SHGC-56345 (e-PCR)
- UniSTS:49384

SHGC-143706 (e-PCR)
- UniSTS:172020

RH122398 (e-PCR)
- UniSTS:138494

Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: LHFPL tetraspan subfamily member 6 protein

Names: lipoma HMGIC fusion partner

NP_005771.1

EC 3.6.5.4

XP_011533163.1

EC 3.6.5.4

XP_054229964.1

EC 3.6.5.4

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.