Aliases for HMX3 Gene
Aliases for HMX3 Gene
External Ids for HMX3 Gene
- HGNC: 5019
- Entrez Gene: 340784
- Ensembl: ENSG00000188620
- OMIM: 613380
- UniProtKB: A6NHT5
Previous GeneCards Identifiers for HMX3 Gene
- GC00U990140
- GC10U900563
- GC10P124884
- GC10P118513
Summaries for HMX3 Gene
GeneCards Summary for HMX3 Gene
HMX3 (H6 Family Homeobox 3) is a Protein Coding gene. Diseases associated with HMX3 include Semicircular Canal Dehiscence Syndrome and Superior Semicircular Canal Dehiscence Syndrome. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is HMX1.
UniProtKB/Swiss-Prot for HMX3 Gene
-
Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development. Binds to the 5-CAAGTG-3 core sequence. Controls semicircular canal formation in the inner ear. Also required for hypothalamic/pituitary axis of the CNS (By similarity).
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMX3 Gene
Genomics for HMX3 Gene
Regulatory Elements for HMX3 Gene
Enhancers for HMX3 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH10G123157 | 1.1 | ENCODE | 11.8 | +21.6 | 21589 | 0.6 | HNRNPUL1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 | HMX3 ACADSB IKZF5 BUB3 GC10P123164 |
| GH10G123553 | 1 | FANTOM5 dbSUPER | 11 | +417.4 | 417399 | 0.3 | SRF MAZ ZBED1 NR2F1 MAX JUNB GATAD2B EBF1 EP300 RELA | HMX3 LOC105378530 GC10M123502 |
| GH10G123019 | 0.9 | ENCODE | 9.9 | -115.8 | -115757 | 1.0 | FOXA2 ATF1 ARID4B DNMT3B ZNF48 RARA YY1 SLC30A9 SCRT2 CREM | ACADSB HMX3 GC10P123103 |
| GH10G123043 | 0.7 | ENCODE | 10.7 | -92.4 | -92433 | 0.2 | ELF3 CTCF ZNF654 BHLHE40 REST ZNF2 RAD21 GATA3 MBD1 ZNF143 | ACADSB IKZF5 HMX3 GC10P123103 |
| GH10G123550 | 0.6 | ENCODE dbSUPER | 10.8 | +414.8 | 414778 | 0.1 | HDAC2 | HMX3 LOC105378530 GC10M123502 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HMX3 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HMX3 gene promoter:
Regulatory Element Products
Genomic Location for HMX3 Gene
- Chromosome:
- 10
- Start:
- 123,135,962 bp from pter
- End:
- 123,137,741 bp from pter
- Size:
- 1,780 bases
- Orientation:
- Plus strand
Genomic View for HMX3 Gene
Genes around HMX3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q26.13 by Ensembl
- 10q26.13 by Entrez Gene
- 10q26.13 by HGNC
HMX3 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 HMX3 Gene
Proteins for HMX3 Gene
-
Protein details for HMX3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- A6NHT5-HMX3_HUMAN
- Recommended name:
- Homeobox protein HMX3
- Protein Accession:
- A6NHT5
- A8MU06
Protein attributes for HMX3 Gene
- Size:
- 357 amino acids
- Molecular mass:
- 37825 Da
- Quaternary structure:
- No Data Available
Protein Expression for HMX3 Gene
Post-translational modifications for HMX3 Gene
Other Protein References for HMX3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for HMX3
- Novus Biologicals Antibodies for HMX3
- Invitrogen Antibodies for HMX3
- antibodies-online Antibodies for HMX3: See all 19
- Search GeneTex for Antibodies for HMX3
Protein Products
-
OriGene Purified Proteins for HMX3
- Search Origene for MassSpec and Protein Over-expression Lysates for HMX3
- Origene Custom Protein Services for HMX3
- Novus Biologicals proteins for HMX3
- antibodies-online Proteins for HMX3: See all 6
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HMX3
Assay Products
No data available for DME Specific Peptides for HMX3 Gene
Domains & Families for HMX3 Gene
Gene Families for HMX3 Gene
Protein Domains for HMX3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HMX3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
A6NHT5- Family:
-
- Belongs to the HMX homeobox family.
Function for HMX3 Gene
Molecular function for HMX3 Gene
- UniProtKB/Swiss-Prot Function:
- Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development. Binds to the 5-CAAGTG-3 core sequence. Controls semicircular canal formation in the inner ear. Also required for hypothalamic/pituitary axis of the CNS (By similarity).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0043565 | sequence-specific DNA binding | IEA | -- |
Phenotypes for HMX3 Gene
- MGI mutant phenotypes for HMX3:
- inferred from 5 alleles
Animal Models for HMX3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HMX3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HMX3 gene
- Search ViGene Biosciences for HMX3
CRISPR Products
-
OriGene CRISPR knockouts for HMX3
-
Santa Cruz Biotechnology (SCBT) CRISPR for HMX3
- GenScript: Design CRISPR guide RNA sequences for HMX3
miRNA for HMX3 Gene
- miRTarBase miRNAs that target HMX3
-
- hsa-mir-6809-3p (MIRT443398)
- hsa-mir-6833-3p (MIRT443399)
- hsa-mir-4768-5p (MIRT443400)
- hsa-mir-4753-3p (MIRT443401)
- hsa-mir-889-3p (MIRT443402)
- hsa-mir-1277-5p (MIRT443403)
- hsa-mir-548t-3p (MIRT443404)
- hsa-mir-548ap-3p (MIRT443405)
- hsa-mir-548aa (MIRT443406)
- hsa-mir-548z (MIRT443407)
- hsa-mir-548h-3p (MIRT443408)
- hsa-mir-548d-3p (MIRT443409)
- hsa-mir-548bb-3p (MIRT443410)
- hsa-mir-548ac (MIRT443411)
- hsa-mir-7703 (MIRT702924)
- hsa-mir-6720-5p (MIRT702925)
- hsa-mir-6512-3p (MIRT702926)
- hsa-mir-661 (MIRT702927)
- hsa-mir-4252 (MIRT702928)
- hsa-mir-6860 (MIRT702929)
- hsa-mir-612 (MIRT702930)
- hsa-mir-5189-5p (MIRT702931)
- hsa-mir-3187-5p (MIRT702932)
- hsa-mir-1285-3p (MIRT702933)
- hsa-mir-4793-3p (MIRT702934)
- hsa-mir-766-3p (MIRT702935)
- hsa-mir-1292-3p (MIRT702936)
- hsa-mir-939-3p (MIRT702937)
- hsa-mir-6849-3p (MIRT702938)
- hsa-mir-1273g-3p (MIRT702939)
- hsa-mir-508-5p (MIRT702940)
Transcription Factor Targets for HMX3 Gene
miRNA Products
- Search ViGene Biosciences for HMX3
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HMX3
- Browse OriGene Inhibitory RNA Products For HMX3
-
ViGene Biosciences ready-to-package AAV shRNAs for HMX3 gene
Clone Products
Cell Line Products
-
Horizon Cell Lines for HMX3
-
ViGene Biosciences adenoviral particle packaged cDNA for HMX3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HMX3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HMX3 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for HMX3 Gene
Localization for HMX3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HMX3 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
Pathways & Interactions for HMX3 Gene
No Data Available
Interacting Proteins for HMX3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0007399 | nervous system development | IEA | -- |
| GO:0007420 | brain development | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for HMX3 Gene
Transcripts for HMX3 Gene
mRNA/cDNA for HMX3 Gene
- (1) REFSEQ mRNAs :
- (0) Additional mRNA sequences :
- -
- (1) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HMX3 Gene
- H6 family homeobox 3:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for HMX3
-
Santa Cruz Biotechnology (SCBT) CRISPR for HMX3
- GenScript: Design CRISPR guide RNA sequences for HMX3
miRNA Products
- Search ViGene Biosciences for HMX3
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HMX3
- Browse OriGene Inhibitory RNA Products For HMX3
-
ViGene Biosciences ready-to-package AAV shRNAs for HMX3 gene
Clone Products
Flow Cytometry Products
Expression for HMX3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Anterior Entopeduncular Progenitor Cells Anterior Entopeduncular Area
- Hypothalamus
- Thalamus
- Cerebellum
- Amygdala
-
Neural Tube (Nervous System)
- Anterior Entopeduncular Progenitor Cells Anterior Entopeduncular Area
mRNA differential expression in normal tissues according to GTEx for HMX3 Gene
This gene is overexpressed in Brain - Hypothalamus (x11.5).
This gene is overexpressed in Heart (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HMX3 Gene
NURSA nuclear receptor signaling pathways regulating expression of HMX3 Gene:
HMX3SOURCE GeneReport for Unigene cluster for HMX3 Gene:
Hs.531194Primer Products
-
OriGene qPCR primer pairs for HMX3
No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HMX3 Gene
Orthologs for HMX3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HMX3 34 |
|
||
| dog (Canis familiaris) |
Mammalia | HMX3 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HMX3 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hmx3 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hmx3 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HMX3 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HMX3 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HMX3 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hmx3 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | nkx-5.1-A 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hmx3 34 35 |
|
||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2895 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Hmx 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | ceh-27 35 |
|
ManyToMany |
- Species where no ortholog for HMX3 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)
- 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)
- platypus (Ornithorhynchus anatinus)
- 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)
- wheat (Triticum aestivum)
Paralogs for HMX3 Gene
Variants for HMX3 Gene
| SNP ID | Clin | Chr 10 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000026674 | -- | 123,134,107(+) | TAGAT(C/G)AATGC | upstream-variant-2KB | |
| rs1000170194 | -- | 123,136,191(+) | CCTAA(A/G)CCTCA | reference, synonymous-codon | |
| rs1000341464 | -- | 123,134,294(+) | GAAGG(G/T)ATCCC | upstream-variant-2KB | |
| rs1000430903 | -- | 123,136,033(+) | GGGGA(C/G)CCGGA | upstream-variant-2KB | |
| rs1002194533 | -- | 123,136,587(+) | CTAGC(C/T)TGCCC | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1069969 | CNV | deletion | 25765185 |
| nsv474515 | CNV | novel sequence insertion | 20440878 |
Gene Damage Index Score:
2.96;
49.40% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HMX3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HMX3
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HMX3 Gene
Disorders for HMX3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| semicircular canal dehiscence syndrome |
|
|
| superior semicircular canal dehiscence syndrome |
|
|
| oculoauricular syndrome |
|
|
| deafness, autosomal recessive 17 |
|
|
Search HMX3 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for HMX3
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- HMX3
No data available for UniProtKB/Swiss-Prot and Genatlas for HMX3 Gene
Publications for HMX3 Gene
- The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
- Genome-wide association study of chronic periodontitis in a general German population. (PMID: 24024966) Teumer A. … Kocher T. (J. Clin. Periodontol. 2013) 3 64
- Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H. … Mohammed S. (J. Proteome Res. 2013) 4 64
- Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome. (PMID: 22779713) Roknic N. … GA1rtler N. (Acta Otolaryngol. 2012) 3 64
- Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function. (PMID: 19253379) Miller N.D. … Pevsner J. (Am. J. Med. Genet. A 2009) 3 64
Products for HMX3 Gene
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- Custom Antibody ServicesOriGene Antibodies for HMX3
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- OriGene Purified Proteins for HMX3
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- OriGene qPCR primer pairs for HMX3
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- Novus Biologicals Antibodies for HMX3
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- Novus Biologicals Tissue Microarrays
- Invitrogen Antibodies for HMX3
- antibodies-online Antibodies for HMX3: See all 19
- Search antibodies-online for kits
- antibodies-online Proteins for HMX3: See all 6
- Search antibodies-online for peptides
- Search GeneTex for Antibodies for HMX3
- Search GeneTex for Proteins for HMX3
- ViGene Biosciences adenoviral particle packaged cDNA for HMX3 gene
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- Cyagen custom Knockout/knockin (KOKI) mouse models for HMX3
- VectorBuilder custom plasmid, inducible vectors for HMX3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HMX3
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HMX3 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) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer