IGSF11 immunoglobulin superfamily member 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGSF11provided by HGNC
Official Full Name: immunoglobulin superfamily member 11provided by HGNC
Primary source: HGNC:HGNC:16669
See related: Ensembl:ENSG00000144847 MIM:608351; AllianceGenome:HGNC:16669
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: CT119; VSIG3; BTIGSF; Igsf13; BT-IgSF; CXADRL1
Summary: IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).[supplied by OMIM, Apr 2005]
Expression: Biased expression in testis (RPKM 12.0), brain (RPKM 8.3) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q13.32

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (118900557..119146020, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (121620300..121865755, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (118619404..118864867, 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: 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?

IGSF11 is required for pericentric heterochromatin dissociation during meiotic diplotene.
Title: IGSF11 is required for pericentric heterochromatin dissociation during meiotic diplotene.
Structural Basis of VSIG3: The Ligand for VISTA.
Title: Structural Basis of VSIG3: The Ligand for VISTA.
this study shows that VSIG-3 as a ligand of VISTA inhibits human T-cell function
Title: VSIG-3 as a ligand of VISTA inhibits human T-cell function.
Concerted role for IgSF11 and PSD-95 in the regulation of AMPAR-mediated synaptic transmission and plasticity.
Title: Synaptic adhesion molecule IgSF11 regulates synaptic transmission and plasticity.
IGSF11 is a good candidate of cancer-testis antigen. Furthermore, suppression of IGSF11 by siRNA retarded the growth of gastric cancer cells.
Title: Identification of immunoglobulin superfamily 11 (IGSF11) as a novel target for cancer immunotherapy of gastrointestinal and hepatocellular carcinomas.
Molecular cloning of BT-IgSF which is preferentially expressed by brain and testis
Title: Molecular cloning of a novel immunoglobulin superfamily gene preferentially expressed by brain and testis.
cell adhesion-inducing function of BT-IgSF suggests a role of the cell surface molecule in the development/function of the central nervous system and spermatogenesis
Title: BT-IgSF, a novel immunoglobulin superfamily protein, functions as a cell adhesion molecule.

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
Gene network analysis in a pediatric cohort identifies novel lung function genes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. 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

REN90194 (e-PCR)
- UniSTS:414992

RH94162 (e-PCR)
- UniSTS:87580

D3S3664 (e-PCR), detects polymorphism
- UniSTS:19533

NIB1484 (e-PCR)
- UniSTS:7871

G20594 (e-PCR)
- UniSTS:81883

A005Y20 (e-PCR)
- UniSTS:81884

REN40251 (e-PCR)
- UniSTS:365051

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ionotropic glutamate receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell-cell adhesion via plasma-membrane adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of protein location	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of long-term synaptic potentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mini excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IEA Inferred from Electronic Annotation more info
involved_in regulation of presynapse assembly	IEA Inferred from Electronic Annotation more info
involved_in trans-synaptic signaling	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in excitatory synapse	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: immunoglobulin superfamily member 11

Names: CXADR like 1; V-set and immunoglobulin domain containing 3; V-set and immunoglobulin domain-containing protein 3; brain and testis-specific immunoglobin superfamily protein; brain and testis-specific immunoglobulin superfamily protein; cancer/testis antigen 119

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_001015887.3 → NP_001015887.1 immunoglobulin superfamily member 11 isoform b precursor

See identical proteins and their annotated locations for NP_001015887.1

Status: VALIDATED

Source sequence(s)

AB071618, AC007023, AC068984, AL834256, AY358141

Consensus CDS

CCDS46891.1

UniProtKB/Swiss-Prot

C9JZN0, Q5DX21, Q8N4F1, Q8N7T8, Q8NDD2

Related

ENSP00000377370.2, ENST00000393775.7

Conserved Domains (3) summary

smart00410
Location:29 → 124

IG_like; Immunoglobulin like

pfam07686
Location:27 → 141

V-set; Immunoglobulin V-set domain

cl11960
Location:156 → 223

Ig; Immunoglobulin domain
NM_001353318.2 → NP_001340247.1 immunoglobulin superfamily member 11 isoform c

Status: VALIDATED

Source sequence(s)

AC007023, AC068984, AL834256

Conserved Domains (2) summary

pfam07686
Location:77 → 191

V-set; Immunoglobulin V-set domain

pfam13927
Location:208 → 269

Ig_3; Immunoglobulin domain
NM_001353319.2 → NP_001340248.1 immunoglobulin superfamily member 11 isoform d

Status: VALIDATED

Source sequence(s)

AC007023, AC068984, AL834256

Conserved Domains (2) summary

pfam07686
Location:77 → 191

V-set; Immunoglobulin V-set domain

pfam13927
Location:208 → 269

Ig_3; Immunoglobulin domain
NM_001353320.2 → NP_001340249.1 immunoglobulin superfamily member 11 isoform a precursor

Status: VALIDATED

Source sequence(s)

AC007023, AC068984, AC083800, AK292387, AL834256

Consensus CDS

CCDS2983.1

Related

ENSP00000406092.2, ENST00000425327.6

Conserved Domains (2) summary

pfam07686
Location:26 → 140

V-set; Immunoglobulin V-set domain

pfam13927
Location:157 → 218

Ig_3; Immunoglobulin domain
NM_001353321.2 → NP_001340250.1 immunoglobulin superfamily member 11 isoform e precursor

Status: VALIDATED

Source sequence(s)

AC007023, AC068984, AL834256

Consensus CDS

CCDS87124.1

UniProtKB/TrEMBL

C9JMW0

Related

ENSP00000420486.1, ENST00000489689.5

Conserved Domains (2) summary

pfam07686
Location:27 → 141

V-set; Immunoglobulin V-set domain

pfam13927
Location:158 → 207

Ig_3; Immunoglobulin domain
NM_001353322.2 → NP_001340251.1 immunoglobulin superfamily member 11 isoform f precursor

Status: VALIDATED

Source sequence(s)

AA292896, AB071618, AC068984, AC083800, AL834256, BI828564

Consensus CDS

CCDS87125.1

Related

ENSP00000401240.2, ENST00000441144.6

Conserved Domains (2) summary

pfam07686
Location:26 → 140

V-set; Immunoglobulin V-set domain

pfam13927
Location:157 → 206

Ig_3; Immunoglobulin domain
NM_001353323.2 → NP_001340252.1 immunoglobulin superfamily member 11 isoform g precursor

Status: VALIDATED

Source sequence(s)

AC007023, AC068984, AL834256

Consensus CDS

CCDS87123.1

UniProtKB/TrEMBL

C9JBA5

Related

ENSP00000417413.1, ENST00000491903.1

Conserved Domains (2) summary

pfam07686
Location:27 → 141

V-set; Immunoglobulin V-set domain

pfam13927
Location:158 → 219

Ig_3; Immunoglobulin domain
NM_001353324.2 → NP_001340253.1 immunoglobulin superfamily member 11 isoform h precursor

Status: VALIDATED

Source sequence(s)

AC007023, AC068984, AL834256

Conserved Domains (2) summary

pfam07686
Location:27 → 141

V-set; Immunoglobulin V-set domain

pfam13927
Location:158 → 211

Ig_3; Immunoglobulin domain
NM_001353325.2 → NP_001340254.1 immunoglobulin superfamily member 11 isoform i

Status: VALIDATED

Source sequence(s)

AC007023, AC068984, AL834256

Conserved Domains (2) summary

pfam13927
Location:99 → 160

Ig_3; Immunoglobulin domain

cl11960
Location:8 → 78

Ig; Immunoglobulin domain
NM_001353326.2 → NP_001340255.1 immunoglobulin superfamily member 11 isoform j

Status: VALIDATED

Source sequence(s)

AC007023, AC068984, AL834256

Conserved Domains (2) summary

pfam13927
Location:99 → 148

Ig_3; Immunoglobulin domain

cl11960
Location:8 → 78

Ig; Immunoglobulin domain
NM_152538.4 → NP_689751.2 immunoglobulin superfamily member 11 isoform a precursor

See identical proteins and their annotated locations for NP_689751.2

Status: VALIDATED

Source sequence(s)

AA292896, AB071618, AC068984, AC083800, AL834256, BI828564

Consensus CDS

CCDS2983.1

UniProtKB/Swiss-Prot

Q5DX21

Conserved Domains (2) summary

pfam07686
Location:26 → 140

V-set; Immunoglobulin V-set domain

pfam13927
Location:157 → 218

Ig_3; Immunoglobulin domain