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BTBD19 Gene

protein-coding   GIFtS: 35
GCID: GC01P045274

BTB (POZ) Domain Containing 19

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
BTB (POZ) Domain Containing 191 2
BTB/POZ Domain-Containing Protein 192
Novel BTB Domain Containing Protein2

External Ids:    HGNC: 271451   Entrez Gene: 1494782   Ensembl: ENSG000002220097   UniProtKB: C9JJ373   

Export aliases for BTBD19 gene to outside databases

Previous GC identifers: GC01P045048 GC01P043388


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for BTBD19 Gene:
BTBD19 (BTB (POZ) domain containing 19) is a protein-coding gene. An important paralog of this gene is BTBD2.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for BTBD19
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for BTBD19

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BTBD19


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

Entrez Gene cytogenetic band: 1p34.1   Ensembl cytogenetic band:  1p34.1   HGNC cytogenetic band: 1p34.1

BTBD19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTBD19 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P045274:  view genomic region     (about GC identifiers)

Start:
45,274,154 bp from pter      End:
45,281,257 bp from pter
Size:
7,104 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BTBDJ_HUMAN, C9JJ37 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein 19  
Size: 291 amino acids; 32365 Da
Sequence caution: Sequence=CAX15036.1; Type=Erroneous gene model prediction; Sequence=CAX15037.1; Type=Erroneous
gene model prediction;
Secondary accessions: B4E384 B7ZC36 B7ZC37
Alternative splicing: 2 isoforms:  C9JJ37-1   C9JJ37-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BTBD19: NX_C9JJ37

Explore proteomics data for BTBD19 at MOPED


See BTBD19 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001130009.1  
ENSEMBL proteins: 
 ENSP00000386506   ENSP00000410162   ENSP00000395461   ENSP00000405193  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
BTBD: BTB/POZ domain containing

4 InterPro protein domains:
 IPR000210 BTB/POZ-like
 IPR011333 BTB/POZ_fold
 IPR013069 BTB_POZ
 IPR011705 BACK

Graphical View of Domain Structure for InterPro Entry C9JJ37

ProtoNet protein and cluster: C9JJ37

UniProtKB/Swiss-Prot: BTBDJ_HUMAN, C9JJ37
Similarity: Contains 1 BACK (BTB/Kelch associated) domain
Similarity: Contains 1 BTB (POZ) domain


Find genes that share domains with BTBD19           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
Find genes that share ontologies with BTBD19           About GenesLikeMe


Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for BTBD19

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
extracellular2
nucleus2

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BTBD19
Interactions:

    Search GeneGlobe Interaction Network for BTBD19

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for BTBD19 (ENSP000003954614) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
GIPC1ENSP000003406984STRING: ENSP00000340698
GIPC2ENSP000003597954STRING: ENSP00000359795
GIPC3ENSP000003192544STRING: ENSP00000319254
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for BTBD19 (BTBDJ)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for BTBD19 gene: 
NM_001136537.1  

Unigene Cluster for BTBD19:

BTB (POZ) domain containing 19
Hs.632400  [show with all ESTs]
Unigene Representative Sequence: AK056150
10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000409335 ENST00000439563 ENST00000485668 ENST00000482715 ENST00000475105
ENST00000495433 ENST00000489976 ENST00000464114 ENST00000450269(uc010ole.1)
ENST00000453418(uc010old.1)
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Inhib. RNA
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Additional mRNA sequence: 

AF086150.1 AK023857.1 AK056150.1 AK304611.1 

10 DOTS entries:

DT.446087  DT.86854942  DT.115474  DT.95369745  DT.91991440  DT.95256828  DT.95362830  DT.95369746 
DT.92418410  DT.95238701 

Selected AceView cDNA sequences (see all 58):

BF732969 AI819357 BX105060 AI290126 AA973720 AI038209 BQ448126 AF086150 
BQ183759 BG766202 AK056150 BF828217 AI351885 AI829767 AW664043 BQ434825 
AA418192 AI282554 AA868460 AA872731 AW834759 AW450454 AI540241 W20341 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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BTBD19 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CCCTGCGGAG
BTBD19 Expression
About this image

BTBD19 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

BTBD19 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.632400
    Custom PCR Arrays for BTBD19
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In Situ
Assay Products:
 

 
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(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)
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This gene was present in the common ancestor of animals.

Orthologs for BTBD19 gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Btbd195 BTB (POZ) domain containing 19   --   4 (53.41 cM) 117119219 
chicken
(Gallus gallus)
Aves BTBD191 BTB (POZ) domain containing 19 60.48(n)
54.64(a)
  100858105  XM_003641686.2  XP_003641734.2 
lizard
(Anolis carolinensis)
Reptilia BTBD196
BTB (POZ) domain containing 19
52(a)
1 ↔ 1
4(110884855-110953057)
tropical clawed frog
(Xenopus tropicalis)
Amphibia btbd191 BTB (POZ) domain containing 19 57.63(n)
52.01(a)
  100493227  XM_002937084.2  XP_002937130.2 
zebrafish
(Danio rerio)
Actinopterygii btbd3a6
BTB (POZ) domain containing 3a
14(a)
many ↔ many
1(51700753-51707305) ENSDARG00000005544
fruit fly
(Drosophila melanogaster)
Insecta CG71021 CG7102 43.86(n)
31.05(a)
  34079  NM_175980.1  NP_787994.1 


ENSEMBL Gene Tree for BTBD19 (if available)
TreeFam Gene Tree for BTBD19 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for BTBD19 gene
BTBD22  BTBD12  BTBD62  BTBD32  BTBD92  

Find genes that share paralogs with BTBD19           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for BTBD19 (see all 128)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs794128511,2
C,F--45275038(+) GAAGCC/TTCGGG 1 -- int11Minor allele frequency- T:0.11NA 120
rs1813817801,2
--45275044(+) TCGGGC/GGTGCT 1 -- int10--------
rs1856128991,2
--45275067(+) CTGGCC/TGGGAT 1 -- int10--------
rs1418253061,2
--45275251(+) CCCAGG/TCTTTG 1 -- int10--------
rs752273441,2
C--45275302(+) TGCCTC/TCTATC 1 -- int10--------
rs124072901,2
C,F,H--45275339(+) TGGGGC/GCGGAA 1 -- int19Minor allele frequency- G:0.13NS EA NA 666
rs1141608201,2
C,F--45275452(+) CCTGTC/GTGGAG 1 -- int11Minor allele frequency- G:0.09WA 118
rs1884654531,2
--45275522(+) TGCCCC/TCAAGA 1 -- int10--------
rs112110371,2
C,F,A,H--45275551(+) GGGGAC/AGGTGG 1 -- int124Minor allele frequency- A:0.48NS EA NA WA CSA 2350
rs1158622281,2
F--45275559(+) TGGGAT/ACAACC 1 -- int11Minor allele frequency- A:0.01NA 120

HapMap Linkage Disequilibrium report for BTBD19 (45274154 - 45281257 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for BTBD19:    About this table    
Variant IDTypeSubtypePubMed ID
nsv870815CNV Loss21882294
nsv461406CNV Loss19166990
nsv870773CNV Loss21882294
nsv871320CNV Loss21882294

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

(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 BTBD19 gene integrated from 10 sources:
(articles sorted by number of sources associating them with BTBD19)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
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: 149478 HGNC: 27145 AceView: LOC149478 Ensembl:ENSG00000222009 euGenes: HUgn149478
ECgene: BTBD19 H-InvDB: BTBD19

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for BTBD19 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for BTBD19 gene:
Search GeneIP for patents involving BTBD19

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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 Search Addgene for plasmids for BTBD19
  Search eBioscience for proteins for BTBD19
  Search eBioscience for elisas for BTBD19
  eBioscience FlowRNA Probe Sets
 genOway: Develop your customized and physiologically relevant rodent model for BTBD19
 antibodies-online antibodies for BTBD19 (2 products)
 antibodies-online kits for BTBD19 (2 products)
 antibodies-online peptides for BTBD19
 antibodies-online proteins for BTBD19
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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