PILRB paired immunoglobin like type 2 receptor beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: PILRBprovided by HGNC
Official Full Name: paired immunoglobin like type 2 receptor betaprovided by HGNC
Primary source: HGNC:HGNC:18297
See related: Ensembl:ENSG00000121716 MIM:605342; AllianceGenome:HGNC:18297
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: FDFACT1; FDFACT2
Summary: The paired immunoglobin-like type 2 receptors consist of highly related activating and inhibitory receptors that are involved in the regulation of many aspects of the immune system. The paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This gene encodes the activating member of the receptor pair and contains a truncated cytoplasmic tail relative to its inhibitory counterpart (PILRA), that has a long cytoplasmic tail with immunoreceptor tyrosine-based inhibitory (ITIM) motifs. This gene is thought to have arisen from a duplication of the inhibitory PILRA gene and evolved to acquire its activating function. [provided by RefSeq, Jun 2013]
Expression: Ubiquitous expression in testis (RPKM 49.6), spleen (RPKM 35.1) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 7q22.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (100358117..100367831)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (101598196..101607910)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (99955740..99965454)

Chromosome 7 - NC_000007.14 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?

HACS1 signaling adaptor protein recognizes a motif in the paired immunoglobulin receptor B cytoplasmic domain.
Title: HACS1 signaling adaptor protein recognizes a motif in the paired immunoglobulin receptor B cytoplasmic domain.
PILRbeta differs from PILRalpha in one of the three residues (Y2, R95 and W108) on the surface of PILRalpha (L108), explaining its inability to engage gB.
Title: PILRα and PILRβ have a siglec fold and provide the basis of binding to sialic acid.
Characterization of paired counterpart PILRA.
Title: FDF03, a novel inhibitory receptor of the immunoglobulin superfamily, is expressed by human dendritic and myeloid cells.

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

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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Readthrough STAG3L5P-PVRIG2P-PILRB

Readthrough gene: STAG3L5P-PVRIG2P-PILRB, Included gene: STAG3L5P, Included gene: PVRIG2P

Homology

Homologs of the PILRB gene: The PILRB gene is conserved in chimpanzee, Rhesus monkey, mouse, and rat.
Orthologs from Annotation Pipeline: 13 organisms have orthologs with human gene PILRB
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables MHC class I protein binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of transmembrane receptor protein tyrosine kinase activity	NAS Non-traceable Author Statement more info	PubMed
involved_in transmembrane receptor protein tyrosine kinase signaling pathway	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: paired immunoglobulin-like type 2 receptor beta

Names: activating receptor PILR-beta; activating receptor PILRbeta; cell surface receptor FDFACT; cell surface receptor FDFACT1; cell surface receptor FDFACT2; paired immunoglobin-like receptor beta; paired immunoglobulin-like receptor beta

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_001371931.2 → NP_001358860.1 paired immunoglobulin-like type 2 receptor beta isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC005071

Conserved Domains (1) summary

cl11960
Location:33 → 129

Ig; Immunoglobulin domain
NM_178238.4 → NP_839956.1 paired immunoglobulin-like type 2 receptor beta isoform 2 precursor

See identical proteins and their annotated locations for NP_839956.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC005071

Consensus CDS

CCDS43622.1

UniProtKB/Swiss-Prot

Q9HBS0, Q9UKJ0

Related

ENSP00000477365.1, ENST00000609309.3

Conserved Domains (1) summary

cl11960
Location:33 → 129

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

100358117..100367831

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

101598196..101607910

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_013440.3: Suppressed sequence

Description

NM_013440.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_175047.2: Suppressed sequence

Description

NM_175047.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.