CD27 CD27 molecule [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD27provided by HGNC
Official Full Name: CD27 moleculeprovided by HGNC
Primary source: HGNC:HGNC:11922
See related: Ensembl:ENSG00000139193 MIM:186711; AllianceGenome:HGNC:11922
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: T14; S152; Tp55; TNFRSF7; S152. LPFS2
Summary: The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008]
Expression: Broad expression in lymph node (RPKM 38.5), spleen (RPKM 21.6) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.31

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (6443892..6451713)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (6454276..6462105)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (6554121..6560879)

Chromosome 12 - NC_000012.12 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?

Cerebrospinal fluid soluble CD27 is associated with CD8[+] T cells, B cells and biomarkers of B cell activity in relapsing-remitting multiple sclerosis.
Title: Cerebrospinal fluid soluble CD27 is associated with CD8(+) T cells, B cells and biomarkers of B cell activity in relapsing-remitting multiple sclerosis.
CD27 on human memory B cells-more than just a surface marker.
Title: CD27 on human memory B cells-more than just a surface marker.
Chronic CD27-CD70 costimulation promotes type 1-specific polarization of effector Tregs.
Title: Chronic CD27-CD70 costimulation promotes type 1-specific polarization of effector Tregs.
Soluble Immune Checkpoint Protein CD27 Is a Novel Prognostic Biomarker of Hepatocellular Carcinoma Development in Hepatitis C Virus-Sustained Virological Response Patients.
Title: Soluble Immune Checkpoint Protein CD27 Is a Novel Prognostic Biomarker of Hepatocellular Carcinoma Development in Hepatitis C Virus-Sustained Virological Response Patients.
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.
CD27 mRNA expression in mycosis fungoides.
Title: CD27 mRNA expression in mycosis fungoides.
The Splenic Marginal Zone in Children Is Characterized by a Subpopulation of CD27-Negative, Lowly IGHV-Mutated B Cells.
Title: The Splenic Marginal Zone in Children Is Characterized by a Subpopulation of CD27-Negative, Lowly IGHV-Mutated B Cells.
CD27 is required for protective lytic EBV antigen-specific CD8+ T-cell expansion.
Title: CD27 is required for protective lytic EBV antigen-specific CD8+ T-cell expansion.
Structural delineation and phase-dependent activation of the costimulatory CD27:CD70 complex.
Title: Structural delineation and phase-dependent activation of the costimulatory CD27:CD70 complex.
CD27 enhances the killing effect of CAR T cells targeting trophoblast cell surface antigen 2 in the treatment of solid tumors.
Title: CD27 enhances the killing effect of CAR T cells targeting trophoblast cell surface antigen 2 in the treatment of solid tumors.

Submit: New GeneRIF Correction See all GeneRIFs (90)

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

Associated conditions

Description	Tests
Lymphoproliferative syndrome 2 MedGen: C3554540 OMIM: 615122 GeneReviews: Not available	Compare labs

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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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CD27	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of CD27molecule (TNFRSF7: tumor necrosis factor receptor superfamily, member 7) in human B cells	PubMed
	env	HIV-1 gp120 induces CD4 association with lymphocyte surface molecules CD3, CD11a, CD27, CD45RA, CD45RB, CD45RO, CD49d, CD38, CD26, CD59, CD95 and class I MHC molecules	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp140 upregulates the expression of the B cell activation marker CD38 and the memory B cell marker CD27	PubMed
Nef	nef	Both HIV-1 Nef and Vpu downregulate the cell surface expression of CD27 (TNFRSF7)	PubMed
Tat	tat	HIV-1 Tat upregulates the expression of CD27 in stimulated CD8+T lymphocytes	PubMed
Vpu	vpu	Both HIV-1 Nef and Vpu downregulate the cell surface expression of CD27 (TNFRSF7)	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

RH17725 (e-PCR)
- UniSTS:71432

WI-7129 (e-PCR)
- UniSTS:38491

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane signaling receptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in extrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in immunoglobulin mediated immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of T cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of B cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of JNK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of non-canonical NF-kappaB signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
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: CD27 antigen

Names: CD27L receptor; T cell activation antigen S152; T-cell activation antigen CD27; tumor necrosis factor receptor superfamily, member 7

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_031995.1 RefSeqGene

Range

5001..11834

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_357

mRNA and Protein(s)

NM_001242.5 → NP_001233.2 CD27 antigen isoform b precursor

Status: REVIEWED

Source sequence(s)

AC005840

Consensus CDS

CCDS8545.1

UniProtKB/Swiss-Prot

B2RDZ0, P26842

Related

ENSP00000266557.3, ENST00000266557.4

Conserved Domains (1) summary

cd13408
Location:4 → 124

TNFRSF7; Tumor necrosis factor receptor superfamily member 7 (TNFRSF7), also known as CD27
NM_001413263.1 → NP_001400192.1 CD27 antigen isoform a precursor

Status: REVIEWED

Source sequence(s)

AC005840
NM_001413264.1 → NP_001400193.1 CD27 antigen isoform c precursor

Status: REVIEWED

Source sequence(s)

AC005840
NM_001413265.1 → NP_001400194.1 CD27 antigen isoform d precursor

Status: REVIEWED

Source sequence(s)

AC005840
NM_001413266.1 → NP_001400195.1 CD27 antigen isoform e

Status: REVIEWED

Source sequence(s)

AC005840, KF570263
NM_001413267.1 → NP_001400196.1 CD27 antigen isoform e

Status: REVIEWED

Source sequence(s)

AC005840, KF570263
NM_001413268.1 → NP_001400197.1 CD27 antigen isoform e

Status: REVIEWED

Source sequence(s)

AC005840

RNA

NR_182125.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005840
NR_182126.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005840
NR_182127.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005840
NR_182128.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005840

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_000012.12 Reference GRCh38.p14 Primary Assembly

Range

6443892..6451713

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017020234.2 → XP_016875723.1 CD27 antigen isoform X1
XM_047429900.1 → XP_047285856.1 CD27 antigen isoform X2
XM_011521042.4 → XP_011519344.1 CD27 antigen isoform X3

Conserved Domains (1) summary

cl22855
Location:34 → 78

TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)