Aliases for BARHL2 Gene
Aliases for BARHL2 Gene
External Ids for BARHL2 Gene
- HGNC: 954
- Entrez Gene: 343472
- Ensembl: ENSG00000143032
- OMIM: 605212
- UniProtKB: Q9NY43
Previous GeneCards Identifiers for BARHL2 Gene
- GC01U990337
- GC01M090353
- GC01M090514
- GC01M090889
- GC01M091177
- GC01M089296
Summaries for BARHL2 Gene
GeneCards Summary for BARHL2 Gene
BARHL2 (BarH Like Homeobox 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is BARHL1.
UniProtKB/Swiss-Prot for BARHL2 Gene
-
Potential regulator of neural basic helix-loop-helix genes.
Additional gene information for BARHL2 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 BARHL2 Gene
Genomics for BARHL2 Gene
GeneHancer (GH) Regulatory Elements for BARHL2 Gene
Promoters and enhancers for BARHL2 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH01J090717 | Enhancer | 0.9 | FANTOM5 | 706.9 | -0.7 | -745 | 0.5 | PKNOX1 RB1 FEZF1 ZNF335 GLIS2 ZNF366 CREM ZNF280D ZNF362 ZBTB11 | BARHL2 GC01P090840 GC01M090641 | |
| GH01J090959 | Enhancer | 0.8 | ENCODE | 10.7 | -242.5 | -242522 | 0.2 | FOXA2 ARID4B ZSCAN9 RAD21 RARA RFX5 ATF7 CREM THAP11 RXRA | BARHL2 PIR51118 ZNF644 PHKA1P1 | |
| GH01J090828 | Enhancer | 0.5 | UCNEbase | 10.9 | -111.7 | -111732 | 0.4 | DACH1 | BARHL2 GC01P090840 LOC105378853 GC01M090641 | |
| GH01J090759 | Enhancer | 0.4 | UCNEbase | 11.7 | -42.5 | -42482 | 0.4 | BARHL2 GC01P090840 GC01M090641 | ||
| GH01J090719 | Enhancer | 0.5 | FANTOM5 | 7.8 | -2.3 | -2320 | 0.1 | SUZ12 CTBP2 ZNF384 EZH2 | BARHL2 GC01P090840 GC01M090641 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around BARHL2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the BARHL2 gene promoter:
-
- NRSF form 2
- NRSF form 1
- E2F-4
- E2F-3a
- E2F-2
- E2F-1
- E2F
- E2F-5
Regulatory Element Products
Genomic Locations for BARHL2 Gene
Genomic Locations for BARHL2 Gene
- chr1:90,711,539-90,717,237
- (GRCh38/hg38)
- Size:
- 5,699 bases
- Orientation:
- Minus strand
- chr1:91,177,096-91,182,794
- (GRCh37/hg19)
- Size:
- 5,699 bases
- Orientation:
- Minus strand
Genomic View for BARHL2 Gene
Genes around BARHL2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p22.2 by Entrez Gene
- 1p22.2 by HGNC
- 1p22.2 by Ensembl
BARHL2 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 BARHL2 Gene
Proteins for BARHL2 Gene
-
Protein details for BARHL2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NY43-BARH2_HUMAN
- Recommended name:
- BarH-like 2 homeobox protein
- Protein Accession:
- Q9NY43
- A0AVP2
- Q7Z4N7
Protein attributes for BARHL2 Gene
- Size:
- 387 amino acids
- Molecular mass:
- 41981 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for BARHL2 Gene
Other Protein References for BARHL2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Invitrogen Antibodies for BARHL2 (AFLGC-BARHL2)
- GeneTex BARHL2 Antibody for BARHL2
-
Boster Bio Antibodies for BARHL2
Protein Products
-
OriGene Purified Proteins for BARHL2
- Search Origene for MassSpec and Protein Over-expression Lysates for BARHL2
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- Search GeneTex for Proteins for BARHL2
-
Abcam proteins for BARHL2
Assay Products
No data available for DME Specific Peptides for BARHL2 Gene
Domains & Families for BARHL2 Gene
Gene Families for BARHL2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transcription factors
Protein Domains for BARHL2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for BARHL2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NY43- Family:
-
- Belongs to the BAR homeobox family.
Function for BARHL2 Gene
Molecular function for BARHL2 Gene
- UniProtKB/Swiss-Prot Function:
- Potential regulator of neural basic helix-loop-helix genes.
Phenotypes From GWAS Catalog for BARHL2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | -- |
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | NAS | 19274049 |
| GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0001228 | transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding | IBA | -- |
| GO:0003677 | DNA binding | IEA | -- |
Phenotypes for BARHL2 Gene
- MGI mutant phenotypes for BARHL2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for BARHL2:
-
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
- Decreased influenza A/WSN/33 replication
Animal Models for BARHL2 Gene
- MGI Knock Outs for BARHL2:
-
- Barhl2 Barhl2<tm1Gan>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for BARHL2
-
CRISPR Products
-
OriGene CRISPR knockouts for BARHL2
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- genomics-online: gRNA clones - Search results for available BARHL2 gene related products
- Applied Biological Materials CRISPR for BARHL2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BARHL2
miRNA for BARHL2 Gene
- miRTarBase miRNAs that target BARHL2
-
- hsa-mir-6516-5p (MIRT540159)
- hsa-mir-455-3p (MIRT540160)
- hsa-mir-6499-3p (MIRT540161)
- hsa-mir-519e-3p (MIRT540162)
- hsa-mir-515-3p (MIRT540163)
- hsa-mir-33b-3p (MIRT540164)
- hsa-mir-6881-3p (MIRT610506)
- hsa-mir-6780a-3p (MIRT610507)
- hsa-mir-7111-3p (MIRT610508)
- hsa-mir-550b-3p (MIRT610509)
- hsa-mir-6769b-3p (MIRT610510)
- hsa-mir-4723-3p (MIRT610511)
- hsa-mir-3183 (MIRT610512)
- hsa-mir-141-5p (MIRT610513)
- hsa-mir-483-3p (MIRT610514)
- hsa-mir-5001-3p (MIRT616550)
- hsa-mir-5581-5p (MIRT616551)
- hsa-mir-4297 (MIRT616552)
- hsa-mir-4490 (MIRT635366)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BARHL2
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- genomics-online: shRNA clones - Search results for available BARHL2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for BARHL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BARHL2
- genomics-online: cdna clones - Search results for available BARHL2 gene related products
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- Applied Biological Materials Clones for BARHL2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for BARHL2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BARHL2 Gene
Localization for BARHL2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BARHL2 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for BARHL2 Gene
Pathways & Interactions for BARHL2 Gene
No Data Available
Interacting Proteins for BARHL2 Gene
Selected Interacting proteins:
ENSP00000359474
Q9NY43-BARH2_HUMAN
for BARHL2 Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for BARHL2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001709 | cell fate determination | IEA | -- |
| GO:0001764 | neuron migration | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | IEA,IBA | -- |
No data available for Pathways by source and SIGNOR curated interactions for BARHL2 Gene
Transcripts for BARHL2 Gene
mRNA/cDNA for BARHL2 Gene
- (1) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (2) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000370445 1979 bps (uc001dns.4)
CRISPR Products
-
OriGene CRISPR knockouts for BARHL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BARHL2
- genomics-online: gRNA clones - Search results for available BARHL2 gene related products
- Applied Biological Materials CRISPR for BARHL2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BARHL2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BARHL2
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BARHL2
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Clone Products
- Sino Biological Human cDNA Clone for BARHL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BARHL2
- genomics-online: cdna clones - Search results for available BARHL2 gene related products
- orf clones - Search results for available BARHL2 gene related products
- Applied Biological Materials Clones for BARHL2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for BARHL2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Immature Ganglion Cells Ganglion Cell Layer
- Late Immature Amacrine Cells Inner Nuclear Layer
- Early Immature Amacrine Cells Inner Nuclear Layer
- Retina
- Brain (Nervous System)
-
Neurons
- Immature Ganglion Cells Ganglion Cell Layer
- Late Immature Amacrine Cells Inner Nuclear Layer
- Early Immature Amacrine Cells Inner Nuclear Layer
- Neural Tube (Nervous System)
-
Spinal Cord (Nervous System)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for BARHL2 Gene
This gene is overexpressed in Brain - Cerebellar Hemisphere (x25.1) and Brain - Cerebellum (x24.3).
NURSA nuclear receptor signaling pathways regulating expression of BARHL2 Gene:
BARHL2SOURCE GeneReport for Unigene cluster for BARHL2 Gene:
Hs.451956Evidence on tissue expression from TISSUES for BARHL2 Gene
- Nervous system(2.8)
Primer Products
-
OriGene qPCR primer pairs for BARHL2
- genomics-online: primer clones - Search results for available BARHL2 gene related products
Gene Expression Assay Products
No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BARHL2 Gene
Orthologs for BARHL2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BARHL2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | BARHL2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | BARHL2 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Barhl2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Barhl2 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | BARHL2 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | BARHL2 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | barhl2 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398182 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | barhl2 34 33 |
|
OneToOne | |
| Dr.16934 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG11085 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | ceh-30 34 |
|
ManyToMany | |
| ceh-31 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for BARHL2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- 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)
- wheat (Triticum aestivum)
Evolution for BARHL2 Gene
- ENSEMBL:
- Gene Tree for BARHL2 (if available)
- TreeFam:
- Gene Tree for BARHL2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BARHL2: view image
Paralogs for BARHL2 Gene
Variants for BARHL2 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000039509 | -- | 90,711,931(-) | T/C | downstream_transcript_variant | |
| rs1000559086 | -- | 90,711,787(-) | T/C | downstream_transcript_variant | |
| rs1001097037 | -- | 90,715,329(-) | T/C | intron_variant | |
| rs1001159235 | -- | 90,712,838(-) | C/T | intron_variant | |
| rs1001444998 | -- | 90,713,080(-) | G/A | intron_variant |
Residual Variation Intolerance Score:
37.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.26;
25.20% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BARHL2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- BARHL2
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BARHL2 Gene
Disorders for BARHL2 Gene
Additional Disease Information for BARHL2
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for BARHL2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BARHL2 Gene
Publications for BARHL2 Gene
- 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) 3 4 58
- Role of the Barhl2 homeobox gene in the specification of glycinergic amacrine cells. (PMID: 14998930) Mo Z … Xiang M (Development (Cambridge, England) 2004) 2 3 58
- Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS. (PMID: 10814725) Bulfone A … Banfi S (Human molecular genetics 2000) 3 4 58
- A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
- Genome-wide association study of lung function decline in adults with and without asthma. (PMID: 22424883) Imboden M … Probst-Hensch NM (The Journal of allergy and clinical immunology 2012) 44 58
Products for BARHL2 Gene
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- GeneTex BARHL2 Antibody for BARHL2
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- Horizon Cell Lines for BARHL2
- genomics-online: cdna clones - Search results for available BARHL2 gene related products
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Sources for BARHL2 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
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