BTLA B and T lymphocyte associated [Homo sapiens (human)] - Gene

Summary

Official Symbol: BTLAprovided by HGNC
Official Full Name: B and T lymphocyte associatedprovided by HGNC
Primary source: HGNC:HGNC:21087
See related: Ensembl:ENSG00000186265 MIM:607925; AllianceGenome:HGNC:21087
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: BTLA1; CD272
Summary: This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011]
Expression: Biased expression in lymph node (RPKM 5.9), appendix (RPKM 3.2) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q13.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (112463966..112499624, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (115185008..115220789, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (112182813..112218319, complement)

Chromosome 3 - NC_000003.12 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?

BTLA contributes to acute-on-chronic liver failure infection and mortality through CD4[+] T-cell exhaustion.
Title: BTLA contributes to acute-on-chronic liver failure infection and mortality through CD4(+) T-cell exhaustion.
B- and T-lymphocyte attenuator could be a new player in accelerated atherosclerosis associated with chronic kidney disease.
Title: B- and T-lymphocyte attenuator could be a new player in accelerated atherosclerosis associated with chronic kidney disease.
BTLA dysregulation correlates with poor outcome and diminished T cell-mediated antitumor responses in chronic lymphocytic leukemia.
Title: BTLA dysregulation correlates with poor outcome and diminished T cell-mediated antitumor responses in chronic lymphocytic leukemia.
The association of BTLA gene polymorphisms with non-small lung cancer risk in smokers and never-smokers.
Title: The association of BTLA gene polymorphisms with non-small lung cancer risk in smokers and never-smokers.
Tumor Cell-Intrinsic BTLA Receptor Inhibits the Proliferation of Tumor Cells via ERK1/2.
Title: Tumor Cell-Intrinsic BTLA Receptor Inhibits the Proliferation of Tumor Cells via ERK1/2.
BTLA inhibition has a dominant role in the cis-complex of BTLA and HVEM.
Title: BTLA inhibition has a dominant role in the cis-complex of BTLA and HVEM.
Early detection of soluble CD27, BTLA, and TIM-3 predicts the development of nosocomial infection in pediatric burn patients.
Title: Early detection of soluble CD27, BTLA, and TIM-3 predicts the development of nosocomial infection in pediatric burn patients.
The correlation of BTLA rs1982809 polymorphism with cancer susceptibility: A meta-analysis of 8634 participators.
Title: The correlation of BTLA rs1982809 polymorphism with cancer susceptibility: A meta-analysis of 8634 participators.
The role of the BTLA-HVEM complex in the pathogenesis of autoimmune diseases.
Title: The role of the BTLA-HVEM complex in the pathogenesis of autoimmune diseases.
Clinical Significance of BTLA and HVEM Expression on Circulating CD4(+) T and CD8(+) T Cells in Chronic Hepatitis B Virus Infection.
Title: Clinical Significance of BTLA and HVEM Expression on Circulating CD4(+) T and CD8(+) T Cells in Chronic Hepatitis B Virus Infection.

Submit: New GeneRIF Correction See all GeneRIFs (78)

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
Envelope surface glycoprotein gp120	env	HIV-1 gp120 downregulates the expression of B and T lymphocyte associated protein (BTLA) in human B 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

NoName (e-PCR)
- UniSTS:482625

AFMC026XC9 (e-PCR)
- UniSTS:56394

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in immune response-regulating cell surface receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: B- and T-lymphocyte attenuator

Names: B- and T-lymphocyte-associated protein

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_001085357.2 → NP_001078826.1 B- and T-lymphocyte attenuator isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AA828425, AC092894, AK131204, BC107091, BE832323, CD702861

Consensus CDS

CCDS43130.1

UniProtKB/Swiss-Prot

Q7Z6A9

Related

ENSP00000373178.4, ENST00000383680.4

Conserved Domains (2) summary

smart00410
Location:43 → 133

IG_like; Immunoglobulin like

cl11960
Location:43 → 134

Ig; Immunoglobulin domain
NM_181780.4 → NP_861445.4 B- and T-lymphocyte attenuator isoform 1 precursor

Status: VALIDATED

Description

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

Source sequence(s)

AC092894

Consensus CDS

CCDS33819.1

UniProtKB/Swiss-Prot

Q3B831, Q3HS85, Q6ZNH9, Q7Z6A9

Related

ENSP00000333919.5, ENST00000334529.10

Conserved Domains (1) summary

smart00410
Location:43 → 133

IG_like; Immunoglobulin like

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

112463966..112499624 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047447496.1 → XP_047303452.1 B- and T-lymphocyte attenuator isoform X3
XM_017005748.3 → XP_016861237.1 B- and T-lymphocyte attenuator isoform X2

UniProtKB/Swiss-Prot

Q3B831, Q3HS85, Q6ZNH9, Q7Z6A9

Conserved Domains (1) summary

smart00410
Location:43 → 133

IG_like; Immunoglobulin like
XM_011512447.4 → XP_011510749.1 B- and T-lymphocyte attenuator isoform X1

See identical proteins and their annotated locations for XP_011510749.1

Conserved Domains (2) summary

smart00410
Location:43 → 133

IG_like; Immunoglobulin like

cl11960
Location:43 → 134

Ig; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

115185008..115220789 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054345352.1 → XP_054201327.1 B- and T-lymphocyte attenuator isoform X1
XM_054345354.1 → XP_054201329.1 B- and T-lymphocyte attenuator isoform X3
XM_054345353.1 → XP_054201328.1 B- and T-lymphocyte attenuator isoform X2

UniProtKB/TrEMBL

Q400G7
XM_054345351.1 → XP_054201326.1 B- and T-lymphocyte attenuator isoform X1