IGLON5 IgLON family member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGLON5provided by HGNC
Official Full Name: IgLON family member 5provided by HGNC
Primary source: HGNC:HGNC:34550
See related: Ensembl:ENSG00000142549 MIM:618861; AllianceGenome:HGNC:34550
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis (RPKM 3.7), brain (RPKM 3.6) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.41

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (51311644..51330891)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (54399928..54419173)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (51814898..51834145)

Chromosome 19 - NC_000019.10 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: 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?

Papillitis associated with IgLON5 autoimmunity: A novel clinical phenotype.
Title: Papillitis associated with IgLON5 autoimmunity: A novel clinical phenotype.
Anti-IgLON5 Disease: A New Bulbar-Onset Motor Neuron Mimic Syndrome.
Title: Anti-IgLON5 Disease: A New Bulbar-Onset Motor Neuron Mimic Syndrome.
Findings report 89 unpublished cell-surface ligand-receptor pairs and describe structural models of trans interactions of cell adhesion molecules, neuronal (IgLON5), showing that their structures are compatible with a model of interaction across the synaptic cleft.
Title: A Proteomic Screen of Neuronal Cell-Surface Molecules Reveals IgLONs as Structurally Conserved Interaction Modules at the Synapse.
The target antigen of patients with rapid-eye-movement parasomnia who produce antibodies (mainly IgG4) against IgLON5 is a neuronal cell adhesion molecule that suggests a tauopathy
Title: A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterisation of the antigen, and post-mortem study.

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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)

General gene information

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Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: igLON family member 5

Names: Ig-like domain-containing protein ENSP00000270642; hCG1651476

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.

mRNA and Protein(s)

NM_001101372.3 → NP_001094842.1 igLON family member 5 precursor

See identical proteins and their annotated locations for NP_001094842.1

Status: VALIDATED

Source sequence(s)

AC063977

Consensus CDS

CCDS46158.1

UniProtKB/Swiss-Prot

A6NGN9

Related

ENSP00000270642.8, ENST00000270642.9

Conserved Domains (3) summary

pfam13927
Location:217 → 295

Ig_3; Immunoglobulin domain

cd00096
Location:41 → 46

Ig; Ig strand A' [structural motif]

cl11960
Location:41 → 129

Ig; Immunoglobulin domain