IGSF21 immunoglobin superfamily member 21 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGSF21provided by HGNC
Official Full Name: immunoglobin superfamily member 21provided by HGNC
Primary source: HGNC:HGNC:28246
See related: Ensembl:ENSG00000117154 AllianceGenome:HGNC:28246
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
Summary: This gene encodes a protein which has two immunoglobulin (Ig) domains and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Sep 2011]
Expression: Biased expression in brain (RPKM 11.7), spleen (RPKM 6.4) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.13

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (18107798..18378483)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (17927918..18198544)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (18434292..18704977)

Chromosome 1 - NC_000001.11 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: 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?

Results suggest that LEKR1-CCNL1 and IGSF21-KLHDC7A gene polymorphisms influence the development of diabetic retinopathy (DR).
Title: Association between LEKR1-CCNL1 and IGSF21-KLHDC7A gene polymorphisms and diabetic retinopathy of type 2 diabetes mellitus in the Chinese Han population.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.

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 to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis for severe diabetic retinopathy. 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

D1S1312 (e-PCR)
- UniSTS:149509

SHGC-132294 (e-PCR)
- UniSTS:170765

SHGC-147560 (e-PCR)
- UniSTS:172832

D1S1345 (e-PCR)
- UniSTS:149542

HSCZSE052 (e-PCR)
- UniSTS:53558

G35004 (e-PCR)
- UniSTS:72077

G35006 (e-PCR)
- UniSTS:66483

D1S2826 (e-PCR), detects polymorphism
- UniSTS:73656

AL033982 (e-PCR)
- UniSTS:93394

SHGC-149400 (e-PCR)
- UniSTS:181999

D1S1295 (e-PCR)
- UniSTS:149492

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in synapse maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in trans-synaptic signaling, modulating synaptic transmission	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
located_in external side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in inhibitory synapse	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info
located_in presynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: immunoglobulin superfamily member 21

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.

Genomic

NG_027535.2 RefSeqGene

Range

5053..275738

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_032880.5 → NP_116269.3 immunoglobulin superfamily member 21 precursor

See identical proteins and their annotated locations for NP_116269.3

Status: REVIEWED

Source sequence(s)

AK075316, AL356101, BC007618

Consensus CDS

CCDS184.1

UniProtKB/Swiss-Prot

Q8NBR8, Q96ID5

Related

ENSP00000251296.1, ENST00000251296.4

Conserved Domains (2) summary

smart00410
Location:353 → 430

IG_like; Immunoglobulin like

cl11960
Location:369 → 432

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

18107798..18378483

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011542319.4 → XP_011540621.1 immunoglobulin superfamily member 21 isoform X3

Conserved Domains (2) summary

smart00410
Location:156 → 233

IG_like; Immunoglobulin like

cl11960
Location:172 → 235

Ig; Immunoglobulin domain
XM_017002604.3 → XP_016858093.1 immunoglobulin superfamily member 21 isoform X1

Conserved Domains (2) summary

smart00410
Location:347 → 424

IG_like; Immunoglobulin like

cl11960
Location:363 → 426

Ig; Immunoglobulin domain
XM_017002605.1 → XP_016858094.1 immunoglobulin superfamily member 21 isoform X2

Conserved Domains (2) summary

smart00410
Location:276 → 353

IG_like; Immunoglobulin like

cl11960
Location:292 → 355

Ig; Immunoglobulin domain