IGSF6 immunoglobulin superfamily member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGSF6provided by HGNC
Official Full Name: immunoglobulin superfamily member 6provided by HGNC
Primary source: HGNC:HGNC:5953
See related: Ensembl:ENSG00000140749 MIM:606222; AllianceGenome:HGNC:5953
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
Also known as: DORA
Summary: Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in cell surface receptor signaling pathway and immune response. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in spleen (RPKM 32.0), appendix (RPKM 25.4) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (21639550..21652608, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (22564326..22577384)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (21650871..21663929, complement)

Chromosome 16 - NC_000016.10 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?

Immunoglobulin superfamily 6 is a molecule involved in the anti-tumor activity of macrophages in lung adenocarcinoma.
Title: Immunoglobulin superfamily 6 is a molecule involved in the anti-tumor activity of macrophages in lung adenocarcinoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variation in the IGSF6 gene and lack of association with inflammatory bowel disease.
There was no evidence for association of the common IGSF6 single nucleotide polymorphisms with disease in a large cohort of patients with inflammatory bowel disease
Title: Genetic variation in the IGSF6 gene and lack of association with inflammatory bowel disease.

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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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat downregulates the expression of immunoglobulin superfamily, member 6 (IGSF6) in human primary T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65112 (e-PCR)
- UniSTS:89911

D11S3316 (e-PCR)
- UniSTS:152558

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables transmembrane signaling receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in immune response	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: immunoglobulin superfamily member 6

Names: down-regulated by activation (immunoglobulin superfamily)

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.