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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BTBD19 Gene

protein-coding   GIFtS: 33
GCID: GC01P045274

BTB (POZ) Domain Containing 19

  Search for BTBD19
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for BTBD19
         Other transcription factors

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   Search SABiosciences Chromatin IP Primers for BTBD19

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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 

BTBD19 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

BTBD19 Protein Expression

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)
About This Section
HGNC Gene Families: 
BTBD: BTB/POZ domain containing

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

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


BTBD19 for domains           About GeneDecksing


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

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
BTBD19 for ontologies           About GeneDecksing


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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BTBD19

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BTBD19 (BTBDJ)

Search CenterWatch for drugs/clinical trials and news about 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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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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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 

24/58 AceView cDNA sequences (see all 58):

AI038209 AI290126 AA973720 BX105060 BF732969 AF086150 AI819357 BQ448126 
W20341 AA872731 BF828217 AW450454 AW664043 AW834794 BQ434825 AK056150 
AA418192 AI282554 BG766202 BQ183759 AA868460 AI829767 AI351885 AI540241 

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

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


See BTBD19 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BTBD19

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

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD19

(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 animals.

Orthologs for BTBD19 gene from 4/11 species (see all 11)    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 LOC1008581051 BTB/POZ domain-containing protein 19-like 64.88(n)
59.64(a)
  100858105  XM_003641686.1  XP_003641734.1 
lizard
(Anolis carolinensis)
Reptilia BTBD196
Uncharacterized protein
52(a)
1 ↔ 1
4(110884855-110953057)
fruit fly
(Drosophila melanogaster)
Insecta CG71021 CG7102 41.46(n)
29.41(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)
About This Section
Paralogs for BTBD19 gene
BTBD22  BTBD12  BTBD62  BTBD32  BTBD92  

BTBD19 for paralogs           About GeneDecksing



(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) 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

10/128 SNPs in BTBD19 are shown (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
----------
VAR_0631574
----see VAR_0631572 E G mis40--------
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

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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
  --

(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 BTBD19 gene integrated from 9 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. (2004)
  2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 149478 HGNC: 27145 AceView: LOC149478 Ensembl:ENSG00000222009 euGenes: HUgn149478
ECgene: BTBD19 H-InvDB: BTBD19

(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
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.)
About This Section
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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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(GIFtS: 73)
transforming growth factor, beta 1
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