Aliases for BTBD18 Gene
Aliases for BTBD18 Gene
External Ids for BTBD18 Gene
- HGNC: 37214
- Entrez Gene: 643376
- Ensembl: ENSG00000233436
- UniProtKB: B2RXH4
Previous GeneCards Identifiers for BTBD18 Gene
- GC11M057270
- GC11M057510
- GC11M053859
Summaries for BTBD18 Gene
GeneCards Summary for BTBD18 Gene
BTBD18 (BTB Domain Containing 18) is a Protein Coding gene.
UniProtKB/Swiss-Prot for BTBD18 Gene
-
Specifically required during spermatogenesis to promote expression of piRNA precursors. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity. Acts by facilitating transcription elongation at piRNA loci during pachytene.
Additional gene information for BTBD18 Gene
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTBD18 Gene
Genomics for BTBD18 Gene
GeneHancer (GH) Regulatory Elements for BTBD18 Gene
Promoters and enhancers for BTBD18 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around BTBD18 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for BTBD18 Gene
Genomic Locations for BTBD18 Gene
- chr11:57,743,514-57,753,256
- (GRCh38/hg38)
- Size:
- 9,743 bases
- Orientation:
- Minus strand
- chr11:57,510,986-57,519,253
- (GRCh37/hg19)
- Size:
- 8,268 bases
- Orientation:
- Minus strand
Genomic View for BTBD18 Gene
Genes around BTBD18 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q12.1 by Entrez Gene
- 11q12.1 by HGNC
- 11q12.1 by Ensembl
BTBD18 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BTBD18 Gene
Proteins for BTBD18 Gene
-
Protein details for BTBD18 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- B2RXH4-BTBDI_HUMAN
- Recommended name:
- BTB/POZ domain-containing protein 18
- Protein Accession:
- B2RXH4
Protein attributes for BTBD18 Gene
- Size:
- 712 amino acids
- Molecular mass:
- 77931 Da
- Quaternary structure:
- No Data Available
Protein Expression for BTBD18 Gene
Post-translational modifications for BTBD18 Gene
Other Protein References for BTBD18 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for BTBD18
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- Invitrogen Antibodies for BTBD18 (AFLGC-BTBD18)
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-
Biorbyt antibodies for BTBD18
-
Boster Bio Antibodies for BTBD18
Protein Products
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- Search GeneTex for Proteins for BTBD18
Assay Products
No data available for DME Specific Peptides for BTBD18 Gene
Domains & Families for BTBD18 Gene
Gene Families for BTBD18 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for BTBD18 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for BTBD18 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for BTBD18 Gene
Function for BTBD18 Gene
Molecular function for BTBD18 Gene
- UniProtKB/Swiss-Prot Function:
- Specifically required during spermatogenesis to promote expression of piRNA precursors. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity. Acts by facilitating transcription elongation at piRNA loci during pachytene.
Phenotypes From GWAS Catalog for BTBD18 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | contributes_to ubiquitin-protein transferase activity | IBA | -- |
| GO:0005515 | protein binding | IEA | -- |
Phenotypes for BTBD18 Gene
- MGI mutant phenotypes for BTBD18:
- inferred from 1 alleles
Animal Models for BTBD18 Gene
- MGI Knock Outs for BTBD18:
-
- Btbd18 Btbd18<tm1Dean>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
CRISPR Products
-
OriGene CRISPR knockouts for BTBD18
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- Overview of 26 available BTBD18 gene related products
- Applied Biological Materials CRISPR for BTBD18
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BTBD18
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miRNA Products
Inhibitory RNA Products
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- Overview of 26 available BTBD18 gene related products
Clone Products
- Sino Biological Human cDNA Clone for BTBD18
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for BTBD18
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for BTBD18 Gene
Localization for BTBD18 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BTBD18 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| mitochondrion | 2 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | ISS | -- |
| GO:0031463 | Cul3-RING ubiquitin ligase complex | IBA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for BTBD18 Gene
Pathways & Interactions for BTBD18 Gene
No Data Available
Interacting Proteins for BTBD18 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0007141 | male meiosis I | ISS,IEA | -- |
| GO:0007283 | spermatogenesis | ISS | -- |
| GO:0010529 | negative regulation of transposition | ISS,IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for BTBD18 Gene
Transcripts for BTBD18 Gene
mRNA/cDNA for BTBD18 Gene
- (3) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000436147 2947 bps (uc009ymm.4)
- ENST00000527995 557 bps (uc058boq.1)
- ENST00000422652 3044 bps (uc010rjy.3)
Unigene Clusters for BTBD18 Gene
- BTB (POZ) domain containing 18:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for BTBD18
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- genomics-online: gRNA clones - Search results for 26 available BTBD18 gene related products
- Overview of 26 available BTBD18 gene related products
- Applied Biological Materials CRISPR for BTBD18
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BTBD18
- GenScript: Design CRISPR guide RNA sequences for BTBD18
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BTBD18
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTBD18
- genomics-online: shRNA clones - Search results for 26 available BTBD18 gene related products
- Overview of 26 available BTBD18 gene related products
Clone Products
- Sino Biological Human cDNA Clone for BTBD18
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- Applied Biological Materials Clones for BTBD18
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for BTBD18 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Inner Cell Mass (Early Embryonic Tissues)
- Inner Cell Mass Cells Inner Cell Mass
mRNA differential expression in normal tissues according to GTEx for BTBD18 Gene
This gene is overexpressed in Testis (x17.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BTBD18 Gene
NURSA nuclear receptor signaling pathways regulating expression of BTBD18 Gene:
BTBD18SOURCE GeneReport for Unigene cluster for BTBD18 Gene:
Hs.606355Primer Products
-
OriGene qPCR primer pairs for BTBD18
- genomics-online: primer clones - Search results for 26 available BTBD18 gene related products
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Gene Expression Assay Products
No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTBD18 Gene
Orthologs for BTBD18 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BTBD18 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | BTBD18 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Btbd18 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Gm13718 33 |
|
||
| Btbd18 16 |
|
||||
| cow (Bos Taurus) |
Mammalia | BTBD18 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | BTBD18 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | BTBD18 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | BTBD18 (1 of 2) 34 |
|
OneToMany | |
| CT033803.1 34 |
|
OneToMany |
- Species where no ortholog for BTBD18 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for BTBD18 Gene
- ENSEMBL:
- Gene Tree for BTBD18 (if available)
- TreeFam:
- Gene Tree for BTBD18 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BTBD18: view image
Paralogs for BTBD18 Gene
(1) SIMAP similar genes for BTBD18 Gene using alignment to 2 proteins:
- BTBDI_HUMAN
- E9PRF5_HUMAN
No data available for Paralogs for BTBD18 Gene
Variants for BTBD18 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000137260 | -- | 57,753,966(-) | G/A | upstream_transcript_variant | |
| rs1000208250 | -- | 57,751,589(-) | C/T | 5_prime_UTR_variant, intron_variant | |
| rs1000259235 | -- | 57,751,859(-) | G/A | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1000328985 | -- | 57,752,117(-) | CCCCCCC/CCCCCCCC | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1000483658 | -- | 57,744,895(-) | C/G | coding_sequence_variant, missense_variant |
Gene Damage Index Score:
1.38;
27.22% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BTBD18 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- BTBD18
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTBD18 Gene
Disorders for BTBD18 Gene
Additional Disease Information for BTBD18
No disorders were found for BTBD18 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTBD18 Gene
Publications for BTBD18 Gene
- A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3 58
- Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) Schizophrenia Working Group of the Psychiatric Genomics Consortium (Nature 2014) 3 58
- Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58
Products for BTBD18 Gene
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Sources for BTBD18 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt