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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ZBTB16 Gene

protein-coding GIFtS: 65
GCID: GC11P113930

zinc finger and BTB domain containing 16

(Previous names: zinc finger protein 145 (Kruppel-like, expressed in promyelocytic...)
(Previous symbol: ZNF145)

Explore 25 diseases affiliated with
ZBTB16 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
Zinc Finger And BTB Domain Containing 16¹ ²		Zinc Finger Protein PLZF² ³
PLZF¹ ² ³ ⁵		Zinc Finger And BTB Domain-Containing Protein 16²
ZNF145¹ ² ³ ⁵		Promyelocytic Leukemia Zinc Finger Protein³
Zinc Finger Protein 145 (Kruppel-Like, Expressed In Promyelocytic Leukemia)¹ ²		Zinc Finger Protein 145³

External Ids:	HGNC: 12930¹	Entrez Gene: 7704²	Ensembl: ENSG00000109906⁷	OMIM: 176797⁵	UniProtKB: Q05516³

Export aliases for ZBTB16 gene to outside databases

Previous GC identifers: GC11P113435 GC11P109859

(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 ZBTB16:

This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription

factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the

nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of

aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate

transcriptional splice variants have been characterized. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ZBT16_HUMAN, Q05516

Function: Probable transcription factor. May play a role in myeloid maturation and in the development and/or

maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein

ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins

Gene Wiki entry for ZBTB16 (Zinc finger and BTB domain-containing protein 16)

(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_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ZBTB16 gene promoter:
AML1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ZBTB16 promoter sequence

Search SABiosciences Chromatin IP Primers for ZBTB16

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZBTB16

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

Entrez Gene cytogenetic band: 11q23.1 Ensembl cytogenetic band: 11q23.2 HGNC cytogenetic band: 11q23

ZBTB16 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZBTB16 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P113930: view genomic region (about GC identifiers)

Start:	113,930,315 bp from pter	End:	114,121,398 bp from pter
Size:	191,084 bases	Orientation:	plus 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: ZBT16_HUMAN, Q05516 (See protein sequence)

Recommended Name: Zinc finger and BTB domain-containing protein 16

Size: 673 amino acids; 74274 Da

Subunit: Binds EPN1. Interacts with ZBTB32 and CUL3

Subcellular location: Nucleus

2 PDB 3D structures from and Proteopedia for ZBTB16:

1BUO (3D)

1CS3 (3D)

Secondary accessions: Q8TAL4

Alternative splicing: 2 isoforms: Q05516-1 Q05516-2

Explore the universe of human proteins at neXtProt for ZBTB16: NX_Q05516

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q05516

ZBTB16 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001018011.1 NP_005997.2

ENSEMBL proteins:

ENSP00000338157 ENSP00000437716 ENSP00000443013 ENSP00000376721 ENSP00000445047

Reactome Protein details: Q05516
Human Recombinant Protein Products for ZBTB16:

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	Uscn Proteins for ZBTB16

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	11929873
GO:0016604	nuclear body	IDA	19648967
GO:0016605	PML body	IDA	9294197
GO:0016607	nuclear speck	IDA	8541544
GO:0017053	transcriptional repressor complex	IDA	12802276

ZBTB16 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ZBTB16

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

ZBTB16 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR015880 Znf_C2H2-like

IPR011333 BTB/POZ_fold

IPR013087 Znf_C2H2/integrase_DNA-bd

IPR013069 BTB_POZ

IPR000210 BTB/POZ-like

Graphical View of Domain Structure for InterPro Entry Q05516

ProtoNet protein and cluster: Q05516

2 Blocks protein families:

IPB000210 BTB/POZ domain

IPB007086 C2H2-type zinc finger signature

UniProtKB/Swiss-Prot: ZBT16_HUMAN, Q05516

Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family

Similarity: Contains 1 BTB (POZ) domain

Similarity: Contains 9 C2H2-type zinc fingers

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: ZBT16_HUMAN, Q05516

Function: Probable transcription factor. May play a role in myeloid maturation and in the development and/or

maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein

ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins

Induction: By retinoic acid

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	NAS	9294197
GO:0005515	protein binding	IPI	--
GO:0008270	zinc ion binding	IEA	--
GO:0042802	identical protein binding	IPI	9294197
GO:0042803	protein homodimerization activity	IDA	8622986

ZBTB16 for ontologies About GeneDecksing

Phenotypes:
8 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Zbtb16):

cellular	endocrine/exocrine gland	hematopoietic system	homeostasis/metabolism	immune system
limbs/digits/tail	reproductive system	skeleton

ZBTB16 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Zbtb16^tm1Ppp for ZBTB16

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ZBTB16

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZBTB16

(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 About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Antigen processing: Ubiquitination & Proteasome degradation

	Antigen processing: Ubiquitination & Proteasome degradation	1.00			Polyubiquitination of substrate	0.75
	Class I MHC mediated antigen processing & presentation	0.83

Immune System

Immune System

1.00

Adaptive Immune System

0.59

Pathways in cancer

Pathways in cancer

1.00

Endometrial cancer

Acute myeloid leukemia

0.39

Pathway sources
See GeneCards unified pathways
Show all pathways

5 Reactome Pathways for ZBTB16

	Antigen processing: Ubiquitination & Proteasome degradation
	Polyubiquitination of substrate
	Adaptive Immune System
	Class I MHC mediated antigen processing & presentation
	Immune System

2 Kegg Pathways (Kegg details for ZBTB16):

	Pathways in cancer
	Acute myeloid leukemia

UniProtKB/Swiss-Prot: ZBT16_HUMAN, Q05516

Pathway: Protein modification; protein ubiquitination

ZBTB16 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ZBTB16

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/140 Interacting proteins for ZBTB16 (Q05516^{1, 2, 3} ENSP00000338157⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 140)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ANAPC5	Q9UJX4²^,³, ENSP00000261819⁴	MINT-65751 I2D: score=5 STRING: ENSP00000261819
CCDC85B	Q15834²^,³, ENSP00000311695⁴	MINT-68199 I2D: score=5 STRING: ENSP00000311695
CEP70	Q8NHQ1²^,³, ENSP00000264982⁴	MINT-68128 I2D: score=5 STRING: ENSP00000264982
KRTAP4-12	Q9BQ66²^,³, ENSP00000377582⁴	MINT-68002 I2D: score=5 STRING: ENSP00000377582
LDOC1	O95751²^,³, ENSP00000359557⁴	MINT-66689 I2D: score=5 STRING: ENSP00000359557

About this table

Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	--	--
GO:0001823	mesonephros development	ISS	8541544
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0006915	apoptotic process	NAS	9294197

ZBTB16 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

ZBTB16 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ZBTB16

1 HMDB Compound for ZBTB16 About this table

Compound	Synonyms	CAS #	PubMed Ids
Zinc	Zinc (see all 2)	7440-66-6	--

6 Novoseek chemical compound relationships for ZBTB16 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
retinoic acid	76.4	32	8384553 (2), 9462740 (2), 12794076 (2), 17217037 (2) (see all 23)
zinc	73.8	86	18953495 (2), 10544010 (2), 17340613 (2), 11175338 (2) (see all 43)
retinoid	43.4	2	8622986 (1)
progesterone	0	5	12970399 (3)
tyrosine	0	3	19421145 (1), 9717842 (1)
testosterone	0	16	15065091 (7), 15334066 (2)

Search CenterWatch for drugs/clinical trials and news about ZBTB16 / ZBT16

(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, Sirion Biotech, 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 ZBTB16 gene (2 alternative transcripts):

NM_001018011.1 NM_006006.4

Unigene Clusters for ZBTB16:

Zinc finger and BTB domain containing 16

Hs.591945 [show with all ESTs], Hs.682144 [show with all ESTs]

Unigene Representative Sequences: BX648973, AK126422

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

ENST00000335953(uc001pop.3 uc001poq.3) ENST00000541602(uc001poo.1)

ENST00000544220 ENST00000535700 ENST00000392996 ENST00000539918 ENST00000545851

ENST00000535379 ENST00000535509

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Additional cDNA sequence:

AK126422.1 XR_111223.1 XR_171918.1

9 DOTS entries:

DT.95361449 DT.411134 DT.95200997 DT.92420387 DT.120730770 DT.99964205 DT.120730737 DT.92420386

DT.95073700

24/74 AceView cDNA sequences (see all 74):

BQ184859 BM969145 BU731767 CB268674 BM873474 BC029812 BX280946 CB990313

BC026902 BX955225 BM677752 NM_006006 BG820096 BQ943253 AW954317 CD621505

CD518150 AI198303 BQ185051 BQ187781 CA396303 F35964 F00118 F36156

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB16 About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4a	·	4b	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10a	·	10b
SP1:							-		-										-		-
SP2:									-										-		-
SP3:
SP4:							-		-
SP5:							-

ECgene alternative splicing isoforms for ZBTB16

(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

ZBTB16 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGGGCCACA

About this image

ZBTB16 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Spermatogonial Stem Cells

Selective marker (cell-identifying gene)

Germ Cells, Male Gametocytes

Testis

Seminiferous Tubules

Spermatogonium Type A

Germ Cells, Male Gametocytes

Eye

Inner Nuclear Layer

Type1 Off Cone Bipolar Cells

Bipolar, Retina

Adipose

Body Subcutaneous White Adipose

Adipose

Visceral White Adipose

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

Posterior foregut-like cells (A scalable, suspensi...)

Alveolar type II cells (Derivation of mature...)

Lung

HyStem+BMP4-induced SM30 cells (HyStem+BMP4 inductio...)

Adipose, Bone, Cartilage

HyStem+BMP4-induced 7SMOO32 cells (HyStem+BMP4 inductio...)

Adipose

HyStem+BMP4-induced E15 cells (HyStem+BMP4 inductio...)

Adipose, Bone, Cartilage

See ZBTB16 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ZBTB16

SOURCE GeneReport for Unigene clusters: Hs.591945 Hs.682144

UniProtKB/Swiss-Prot: ZBT16_HUMAN, Q05516

Tissue specificity: Within the hematopoietic system, PLZF is expressed in bone marrow, early myeloid cell lines and

peripheral blood mononuclear cells. Also expressed in the ovary, and at lower levels, in the kidney and lung

SABiosciences Expression via Pathway-Focused PCR Arrays including ZBTB16:

Polycomb & Trithorax Complexes in human mouse rat

Huntington's Disease in human mouse rat

Ubiquitin Ligases in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZBTB16

(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 ZBTB16 gene from 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ZBTB16¹	zinc finger and BTB domain containing 16	81(n) 87.82(a)		419759 XM_417898.3 XP_417898.3
lizard (Anolis carolinensis)	Reptilia	ZBTB16⁶	--	74(a)	1 ↔ 1	AAWZ02037285(9111-10280)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.9134²	Transcribed sequence with weak similarity to protein more	73.88(n)		BX683313.1
zebrafish (Danio rerio)	Actinopterygii	wufb93g12²	wufb93g12	78.94(n)		323269 BC046887.1

ENSEMBL Gene Tree for ZBTB16 (if available)
TreeFam Gene Tree for ZBTB16 (if available)

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

Paralogs for ZBTB16 gene

ZBTB39² ZBTB32²

18/36 SIMAP similar genes for ZBTB16 using alignment to 4 protein entries: ZBT16_HUMAN (see all proteins) (see all similar genes):

PLZF ZBTB7C ZNF295 ZBTB4 BACH1 KLHL7

NACC1 KLHL2 KLHL18 ZBTB14 ZNF131 ZNF419

BACH2 ZBTB22 HIC1 KLHL10 ZBTB21 GLI4

ZBTB16 for paralogs About GeneDecksing

(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)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs34029763^1,2	C,F	--	109857086(+)	`CAAAGC/TGNNNN`	1	--	us2k¹		7		NA CSA WA	247
rs6589410^1,2	C,F,A	--	109857097(+)	`CCTCCA/GGCAGG`	1	--	us2k¹		10		NA WA CSA EA	378
rs61904429^1,2		--	109857589(+)	`ACCGCC/TTGGCC`	1	--	us2k¹		1		NA	2
rs2606728^1,2	F	--	109857756(-)	`AGGCCT/CGAGTC`	1	--	us2k¹		1		NA	120
rs7940213^1,2	C	--	109857758(+)	`CTCAGG/ACCTTG`	1	--	us2k¹		2		WA	120
rs79249925^1,2	C	--	109858278(+)	`CGCTTC/GGACAA`	2	--	us2k¹		3		WA EA	240
rs78058080^1,2		--	109858479(+)	`AAAAAA/GTTAAA`	2	--	us2k¹		0	--	--	--	--
rs77444442^1,2	F	--	109858566(+)	`GGGAGG/AGGGGG`	2	--	us2k¹		1		WA	118
rs77540582^1,2		--	109858653(+)	`CCTATG/TAAGGA`	2	--	us2k¹		0	--	--	--	--
rs117941637^1,2	C,F	--	109859155(+)	`CCTCCC/TCGACA`	2	--	ut5¹ us2k¹		1		EA	120

HapMap Linkage Disequilibrium report for ZBTB16 (113930315 - 114121398 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ZBTB16
1 Indel: 44819
Human Gene Mutation Database (HGMD): ZBTB16

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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.)
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ZBTB16 for disorders           About GeneDecksing

OMIM gene information: 176797
OMIM disorders: 612447
UniProtKB/Swiss-Prot: ZBT16_HUMAN, Q05516

Defects in ZBTB16 are the cause of skeletal defects genital hypoplasia and mental retardation (SGYMR)

[MIM:612447]. A disorder characterized by mental retardation, craniofacial dysmorphism, microcephaly and short

stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae

and ribs, retarded bone age and genital hypoplasia

Note=A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL).

Translocation t(11;17)(q32;q21) with RARA

20/25 diseases for ZBTB16 (see all 25): About MalaCards

acute promyelocytic leukemia skeletal defects, genital hypoplasia, and mental retardation leukemia fanconi's anemia

b-cell lymphomas short stature germ cell tumor chronic lymphocytic leukemia

malignant mesothelioma acute myeloid leukemia lymphocytic leukemia wilson disease

myeloid leukemia insulin resistance myeloid malignancy anemia

huntington's disease microcephaly adhd prostate cancer

1 disease from the University of Copenhagen DISEASES database for ZBTB16:

Leukemia

10 Novoseek disease relationships for ZBTB16 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
promyelocytic leukemia	90.8	70	14527952 (3), 18953495 (2), 17118363 (2), 18448589 (2) (see all 38)
leukemia promyelocytic acute	89.9	25	10023668 (1), 7849296 (1), 7892256 (1), 9341182 (1) (see all 23)
leukemogenesis	64.8	3	8622986 (1), 17217037 (1)
leukemia	58.9	19	9591778 (2), 12970399 (2), 11090081 (1), 12802276 (1) (see all 14)
fanconis anemia	36	2	11865059 (1), 17171645 (1)
acute leukemia	7.12	1	15467736 (1)
lymphoma non-hodgkins	6.72	2	10207085 (1), 11175338 (1)
tumors	0	8	10980608 (2), 18246121 (1), 16828757 (1), 19459408 (1)
prostate cancer	0	3	15065091 (2), 15334066 (1)
cancer	0	3	12188922 (1), 18246121 (1), 17537403 (1)

Genetic Association Database (GAD): ZBTB16
Human Genome Epidemiology (HuGE) Navigator: ZBTB16 (6 documents)

Export disorders for ZBTB16 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)
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PubMed articles for ZBTB16 gene, integrated from 9 sources (see all 171):
(articles sorted by number of sources associating them with ZBTB16)

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Genomic sequence, structural organization, molecular evolution, and aberrant rearrangement of promyelocytic leukemia zinc finger gene. (PubMed id 10500192)^{1, 2, 9} Zhang T.... Chen S.-J. (1999)
Rearrangements of the retinoic acid receptor alpha and promyelocytic leukemia zinc finger genes resulting from t(11;17)(q23;q21) in a patient with acute promyelocytic leukemia. (PubMed id 8387545)^{1, 2, 9} Chen S.-J.... Chen Z. (1993)
Fusion between a novel Kruppel-like zinc finger gene and the retinoic acid receptor-alpha locus due to a variant t(11;17) translocation associated with acute promyelocytic leukaemia. (PubMed id 8384553)^{1, 2, 9} Chen Z.... Zelent A. (1993)
Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia. (PubMed id 18611983)^{1, 2} Fischer S.... Wieczorek D. (2008)
[Role of molecular screening for common fusion genes in the diagnosis and classification of leukemia] (PubMed id 15968309)^{1, 4} Zhu Y.L....Liu J. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Role of the ENTH domain in phosphatidylinositol-4,5-bisphosphate binding and endocytosis. (PubMed id 11161217)^{1, 2} Itoh T.... Takenawa T. (2001)
A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF. (PubMed id 10572087)^{1, 2} Hoatlin M.E.... Licht J.D. (1999)
Structure-function studies of the BTB/POZ transcriptional repression domain from the promyelocytic leukemia zinc finger oncoprotein. (PubMed id 10537309)^{1, 2} Li X....Marmorstein R. (1999)
Crystal structure of the BTB domain from PLZF. (PubMed id 9770450)^{1, 2} Ahmad K.F.... Prive G.G. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 7704	HGNC: 12930	AceView: ZBTB16	Ensembl:ENSG00000109906	euGenes: HUgn7704
ECgene: ZBTB16	Kegg: 7704	H-InvDB: ZBTB16

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ZBTB16	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ZBTB16	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for ZBTB16 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 ZBTB16 gene:
Search GeneIP for patents involving ZBTB16

GeneCards and IP:
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ZBTB16 Gene

zinc finger and BTB domain containing 16

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ZBTB16 Gene

zinc finger and BTB domain containing 16

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