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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TNFRSF13B Gene

protein-coding GIFtS: 64
GCID: GC17M016832

tumor necrosis factor receptor superfamily, member 13B

Explore 34 diseases affiliated with
TNFRSF13B via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tumor Necrosis Factor Receptor Superfamily, Member 13B¹ ²		CVID²
TACI¹ ² ³ ⁵		TNFRSF14B²
CD267¹ ²		Tumor Necrosis Factor Receptor 13B²
Transmembrane Activator And CAML Interactor² ³		Tumor Necrosis Factor Receptor Superfamily Member 13B²
CVID2² ⁵		CD267 Antigen³

External Ids:	HGNC: 18153¹	Entrez Gene: 23495²	Ensembl: ENSG00000240505⁷	OMIM: 604907⁵	UniProtKB: O14836³

Export aliases for TNFRSF13B gene to outside databases

Previous GC identifers: GC17M017204 GC17M017953 GC17M016785 GC17M017042 GC17M016783 GC17M016595

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TNFRSF13B:

The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor

superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the

transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF

ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: TR13B_HUMAN, O14836

Function: Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high affinity.

Mediates calcineurin-dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1. Involved in the

stimulation of B- and T-cell function and the regulation of humoral immunity

Gene Wiki entry for TNFRSF13B

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010718.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TNFRSF13B gene promoter:
POU2F1 AP-1 POU2F1a ATF-2 FOXD1 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TNFRSF13B promoter sequence

Search SABiosciences Chromatin IP Primers for TNFRSF13B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TNFRSF13B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p11.2 Ensembl cytogenetic band: 17p11.2 HGNC cytogenetic band: 17p11.2

TNFRSF13B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TNFRSF13B gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M016832: view genomic region (about GC identifiers)

Start:	16,832,849 bp from pter	End:	16,875,432 bp from pter
Size:	42,584 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TR13B_HUMAN, O14836 (See protein sequence)

Recommended Name: Tumor necrosis factor receptor superfamily member 13B

Size: 293 amino acids; 31816 Da

Subunit: Binds TRAF2, TRAF5 and TRAF6. Binds the NH2-terminal domain of CAMLG with its C-terminus

Subcellular location: Membrane; Single-pass type III membrane protein

2 PDB 3D structures from and Proteopedia for TNFRSF13B:

1XU1 (3D)

1XUT (3D)

Secondary accessions: B2R8B0 Q32LX4 Q7Z6F5

Alternative splicing: 2 isoforms: O14836-1 O14836-2

Explore the universe of human proteins at neXtProt for TNFRSF13B: NX_O14836

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O14836

TNFRSF13B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_036584.1

ENSEMBL proteins:

ENSP00000463582 ENSP00000464069 ENSP00000261652 ENSP00000462952 ENSP00000413453

Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TNFRSF13B

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005887	integral to plasma membrane	IEA	--
GO:0009897	external side of plasma membrane	IEA	--

TNFRSF13B for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for TNFRSF13B

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TNFRSF13B for domains About GeneDecksing

2 InterPro domains/families:

IPR015384 TACI_Cys-rich-dom

IPR022317 TNFR_13B

Graphical View of Domain Structure for InterPro Entry O14836

ProtoNet protein and cluster: O14836

1 Blocks protein family: IPB001368 TNFR/CD27/30/40/95 cysteine-rich region

UniProtKB/Swiss-Prot: TR13B_HUMAN, O14836

Similarity: Contains 2 TNFR-Cys repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TR13B_HUMAN, O14836

Function: Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high affinity.

Mediates calcineurin-dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1. Involved in the

stimulation of B- and T-cell function and the regulation of humoral immunity

miRNA Products:		OriGene 3'-UTR Clone: TNFRSF13B Browse MicroRNA Expression Plasmids
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNFRSF13B

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	TAS	9311921
GO:0005515	protein binding	IPI	--

TNFRSF13B for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for TNFRSF13B:

Increased cilium length after

Upregulation of Wnt/beta-caten

Animal Models:
Mouse knock-outs for TNFRSF13B: Tnfrsf13b^tm1Vmd Tnfrsf13b^tm1Rjb Tnfrsf13b^tm1Cmac
8 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Tnfrsf13b):

cellular	hematopoietic system	homeostasis/metabolism	immune system	liver/biliary system
mortality/aging	renal/urinary system	tumorigenesis

TNFRSF13B for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Apoptosis and survival_Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway	1.00			Apoptosis and survival_Anti-apoptotic TNFs/NF-kB/IAP pathway	0.46
	Apoptosis and survival_Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway	1.00			Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway	0.46

BAFF in B-Cell Signaling

	BAFF in B-Cell Signaling	1.00			Apoptosis and survival_APRIL and BAFF signaling	0.39
	APRIL Pathway	0.92			Apoptosis and survival APRIL and BAFF signaling	0.39

Akt Signaling

	Akt Signaling	1.00			Tec Kinases Signaling	0.55
	p38 Signaling	0.60

TRAF Pathway

	TRAF Pathway	1.00			TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions	0.08
	TNF Superfamily Pathway	0.42

PEDF Induced Signaling

STAT3 Pathway

0.47

Cytokine-cytokine receptor interaction

0.26

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for TNFRSF13B

	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
	Apoptosis and survival APRIL and BAFF signaling
	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway

1 R&D Systems Pathway for TNFRSF13B

TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions

5/10 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TNFRSF13B (see all 10)

	STAT3 Pathway
	TRAF Pathway
	Molecular Mechanisms of Cancer
	Antioxidant Action of Vitamin-C
	Tec Kinases Signaling

3 GeneGo (Thomson Reuters) Pathways for TNFRSF13B

	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway
	Apoptosis and survival APRIL and BAFF signaling
	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

2 BioSystems Pathways for TNFRSF13B

	Syndecan-2-mediated signaling events
	Syndecan-4-mediated signaling events

3 Kegg Pathways (Kegg details for TNFRSF13B):

	Cytokine-cytokine receptor interaction
	Intestinal immune network for IgA production
	Primary immunodeficiency

TNFRSF13B for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TNFRSF13B

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

5/15 Interacting proteins for TNFRSF13B (O14836^{1, 3} ENSP00000261652⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 15)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TNFSF13B	Q9Y275¹^,³, ENSP00000365048⁴	EBI-519160,EBI-519169 I2D: score=4 STRING: ENSP00000365048
MYD88	Q99836¹^,³, ENSP00000379625⁴	EBI-519160,EBI-447677 I2D: score=2 STRING: ENSP00000379625
TRAF5	O00463³, ENSP00000261464⁴	I2D: score=4 STRING: ENSP00000261464
TNFSF13	O75888³, ENSP00000343505⁴	I2D: score=3 STRING: ENSP00000343505
IRAK1	P51617³, ENSP00000358997⁴	I2D: score=1 STRING: ENSP00000358997

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001782	B cell homeostasis	IEA	--
GO:0007166	cell surface receptor signaling pathway	TAS	9311921
GO:0030889	negative regulation of B cell proliferation	IEA	--

TNFRSF13B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TNFRSF13B for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TNFRSF13B
3 Novoseek chemical compound relationships for TNFRSF13B gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
bcma	98.8	72	16960154 (5), 11827482 (3), 14512299 (3), 19175985 (3) (see all 47)
blys	95.8	57	10956646 (5), 19175985 (3), 17069785 (3), 14512299 (2) (see all 20)
calcium	0	3	19456850 (1), 15827134 (1), 17538121 (1)

Search CenterWatch for drugs/clinical trials and news about TNFRSF13B / TR13B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TNFRSF13B gene:

NM_012452.2

Unigene Cluster for TNFRSF13B:

Tumor necrosis factor receptor superfamily, member 13B

Hs.158341 [show with all ESTs]

Unigene Representative Sequence: AK097261

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000584950 ENST00000582931 ENST00000579315 ENST00000579009 ENST00000261652(uc002gqs.1 uc002gqt.1)

ENST00000583789 ENST00000581616 ENST00000437538(uc010vwt.1)

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Additional cDNA sequence:

AF023614.1 AK097261.1 AK223453.1 AK301032.1 AK313302.1 AY302137.1 BC109392.1

3 DOTS entries:

DT.92071919 DT.100657168 DT.99936251

12 AceView cDNA sequences:

AF023614 AY302137 NM_012452 AX772740 BQ056468 AX766384 BI906503 AK097261

BQ060884 AU099378 BQ062660 BU540305

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TNFRSF13B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCTGCAAAA

About this image

TNFRSF13B expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TNFRSF13B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TNFRSF13B

SOURCE GeneReport for Unigene cluster: Hs.158341

UniProtKB/Swiss-Prot: TR13B_HUMAN, O14836

Tissue specificity: Highly expressed in spleen, thymus, small intestine and peripheral blood leukocytes. Expressed in

resting B-cells and activated T-cells, but not in resting T-cells

SABiosciences Expression via Pathway-Focused PCR Arrays including TNFRSF13B:

TNF Ligands & Receptors in human mouse rat

T-cell & B-cell Activation in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TNFRSF13B

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNFRSF13B

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for TNFRSF13B gene from 3/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tnfrsf13b^{1 , 5}	tumor necrosis factor receptor superfamily, member more^{1, 5}	67.62(n)¹ 55.1(a)¹		11 (37.96 cM)⁵ 57916¹ NM_021349.1¹ NP_067324.1¹ 61126755⁵
chicken (Gallus gallus)	Aves	TNFRSF13B¹	tumor necrosis factor receptor superfamily, member more	54.35(n) 42.61(a)		770275 NM_001097537.1 NP_001091006.1
lizard (Anolis carolinensis)	Reptilia	TNFRSF13B⁶	--	38(a)	1 ↔ 1	GL343385.1(755384-758680)

ENSEMBL Gene Tree for TNFRSF13B (if available)
TreeFam Gene Tree for TNFRSF13B (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TNFRSF13B gene

1 SIMAP similar gene for TNFRSF13B using alignment to 3 protein entries: TR13B_HUMAN (see all proteins):

TACI

TNFRSF13B for paralogs About GeneDecksing

5/9 Pseudogenes.org Pseudogenes for TNFRSF13B (see all 9)
PGOHUM00000236910 PGOHUM00000236946 PGOHUM00000237124 PGOHUM00000237288 PGOHUM00000237301

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs34557412^1,2	C,F,	pathogenic	19571270(-)	`ACTTCT/CGTGAG`	2	/R /C	mis¹		4		NA EU	5859
rs104894650^1,2	C	pathogenic	19571391(-)	`AGGCTA/CAGAAG`	2	* S	stg¹		0	--	--	--	--
rs72553883^1,2	C,F,	pathogenic	19579726(-)	`GGTGGC/AGGTGG`	2	/E /A	mis¹		2		NA EU	5597
rs104894649^1,2	C,F	pathogenic	19579789(-)	`GCCCCG/ATCAAA`	2	/H /R	mis¹		2		NA EU	5825
rs56063729^1,2	C,F,	probable-non-pathogenic	19580371(+)	`TGCTCA/GCAGGG`	2	A V	mis¹		2		NA EU	4156
rs150068036^1,2	C,	unknown	19580682(+)	`TCTCC-/TCATATCT`	1	--	ut3¹		0	--	--	--	--
rs1004439^1,2	C,F,H,	--	16594929(+)	`ACAACA/GCACAC`	1	--	ds500¹		12		NS NA	1592
rs56059714^1,2	C,	--	16595513(+)	`CGACCT/GACAGC`	1	--	ut3¹		1		NA	120
rs111439115^1,2	C,F	--	16595994(+)	`GGGGTC/TGGGGG`	2	N D	mis¹		2		CSA NA	4323
rs11652811^1,2	C,F,H,	--	16596176(+)	`GGGTGA/GCGGTG`	1	--	int¹		4		NA	126

HapMap Linkage Disequilibrium report for TNFRSF13B (16832849 - 16875432 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for TNFRSF13B
1 Inversion: 0495
Human Gene Mutation Database (HGMD): TNFRSF13B

Locus Specific Mutation Databases (LSDB): TNFRSF13B

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TNFRSF13B for disorders           About GeneDecksing

OMIM gene information: 604907
OMIM disorders: 609529  240500
UniProtKB/Swiss-Prot: TR13B_HUMAN, O14836

Defects in TNFRSF13B are the cause of immunodeficiency common variable type 2 (CVID2) [MIM:240500]. CVID2 is a

primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections

and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation

and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can

be low

Defects in TNFRSF13B are a cause of immunoglobulin A deficiency 2 (IGAD2) [MIM:609529]. Selective deficiency

of immunoglobulin A (IGAD) is the most common form of primary immunodeficiency, with an incidence of approximately 1

in 600 individuals in the western world. Individuals with symptomatic IGAD often have deficiency of IgG subclasses or

decreased antibody response to carbohydrate antigens such as pneumococcal polysaccharide vaccine. Individuals with

IGAD also suffer from recurrent sinopulmonary and gastrointestinal infections and have an increased incidence of

autoimmune disorders and of lymphoid and non-lymphoid malignancies. In vitro studies have suggested that some

individuals with IGAD have impaired isotype class switching to IgA and others may have a post-switch defect. IGAD and

CVID have been known to coexist in families. Some individuals initially present with IGAD1 and then develop CVID.

These observations suggest that some cases of IGAD and CVID may have a common etiology

20/34 diseases for TNFRSF13B (see all 34): About MalaCards

smith-magenis syndrome immunoglobulin a deficiency 2 b-cell non-hodgkin lymphoma common variable immunodeficiency

immunoglobulin alpha deficiency hypersensitivity reaction type ii disease non-hodgkin lymphoma waldenstrom macroglobulinemia

primary biliary cirrhosis hodgkin's lymphoma b-cell lymphomas intracranial aneurysm

systemic lupus erythematosus macroglobulinemia lupus erythematosus chronic lymphocytic leukemia

multiple sclerosis lymphocytic leukemia follicular lymphoma agammaglobulinemia

3 diseases from the University of Copenhagen DISEASES database for TNFRSF13B:

Agammaglobulinemia Immunoglobulin alpha deficiency Bronchiectasis

10/13 Novoseek disease relationships for TNFRSF13B gene (see all 13) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
common variable immunodeficiency	85.3	18	16630947 (2), 16007087 (2), 16007086 (2), 16899196 (1) (see all 8)
antibody deficiency syndrome	78.8	1	17171762 (1)
iga deficiency	64.6	3	16007086 (2), 16899196 (1)
autoimmune diseases	49.4	1	16187941 (1)
autoimmunity	48	1	17171762 (1)
necrosis	45.9	12	19494827 (2), 16899196 (1), 18064389 (1), 10956646 (1) (see all 8)
myeloma	41.9	6	18046446 (3), 15827134 (2), 17550853 (1)
immunodeficiency	38.2	2	19494827 (1), 16264328 (1)
leukemia lymphocytic chronic	33.8	1	19291294 (1)
lymphoma non-hodgkins	23.5	1	19291294 (1)

GeneTests: TNFRSF13B

Common Variable Immune Deficiency

Human Genome Epidemiology (HuGE) Navigator: TNFRSF13B (17 documents)

Export disorders for TNFRSF13B gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TNFRSF13B gene, integrated from 9 sources (see all 125):
(articles sorted by number of sources associating them with TNFRSF13B)

Utopia: connect your pdf to the dynamic
world of online information

NF-AT activation induced by a CAML-interacting member of the tumor necrosis factor receptor superfamily. (PubMed id 9311921)^{1, 2, 3} von Buelow G.-U. and Bram R.J. (1997)
TACI is mutant in common variable immunodeficiency and IgA deficiency. (PubMed id 16007086)^{1, 2, 9} Castigli E.... Geha R.S. (2005)
Tumor necrosis factor (TNF) receptor superfamily member TACI is a high affinity receptor for TNF family members APRIL and BLyS. (PubMed id 10956646)^{1, 2, 9} Wu Y.... Baker K.P. (2000)
Structures of APRIL-receptor complexes: like BCMA, TACI employs only a single cysteine-rich domain for high affinity ligand binding. (PubMed id 15542592)^{1, 2} Hymowitz S.G....Starovasnik M.A. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
TACI is a TRAF-interacting receptor for TALL-1, a tumor necrosis factor family member involved in B cell regulation. (PubMed id 10880535)^{1, 2} Xia X.-Z.... Hsu H. (2000)
APRIL and TALL-I and receptors BCMA and TACI: system for regulating humoral immunity. (PubMed id 10973284)^{1, 2} Yu G.... Theill L.E. (2000)
Novel mutations in TACI (TNFRSF13B) causing common va riable immunodeficiency. (PubMed id 19629655)^{1, 9} Mohammadi J....HammarstrAPm L. (2009)
TACI expression is associated with a mature bone marrow plasma cell signature and C-MAF overexpression in human myeloma cell lines. (PubMed id 17550853)^{1, 9} Moreaux J....Klein B. (2007)
An evolutionary approach to the medical implications of the tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) gene. (PubMed id 19494827)^{1, 9} Sazzini M....Luiselli D. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 23495	HGNC: 18153	AceView: TNFRSF13B	Ensembl:ENSG00000240505	euGenes: HUgn23495
ECgene: TNFRSF13B	Kegg: 23495	H-InvDB: TNFRSF13B

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TNFRSF13B	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TNFRSF13B	Genetics and Cytogenetics in Oncology and Haematology
TNFRSF13Bbase	http://bioinf.uta.fi/TNFRSF13Bbase/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNFRSF13B

Intellectual Property for TNFRSF13B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TNFRSF13B gene:
Search GeneIP for patents involving TNFRSF13B

GeneCards and IP:
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TNFRSF13B Gene

tumor necrosis factor receptor superfamily, member 13B

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TNFRSF13B Gene

tumor necrosis factor receptor superfamily, member 13B

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