Aliases for HMX2 Gene
Aliases for HMX2 Gene
External Ids for HMX2 Gene
- HGNC: 5018
- Entrez Gene: 3167
- Ensembl: ENSG00000188816
- OMIM: 600647
- UniProtKB: A2RU54
Previous GeneCards Identifiers for HMX2 Gene
- GC10U990031
- GC08M023560
- GC10P124448
- GC10P124897
- GC04M9P0040
- GC10P118525
Summaries for HMX2 Gene
-
The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in this family are of ancient origin and play an important role in organ development during embryogenesis. A related mouse protein plays a role in patterning of inner ear structures. In humans, variations in a region containing this gene have been associated with inner ear malformations, vestibular dysfunction, and hearing loss. [provided by RefSeq, Aug 2012]
GeneCards Summary for HMX2 Gene
HMX2 (H6 Family Homeobox 2) is a Protein Coding gene. Diseases associated with HMX2 include Cecal Benign Neoplasm and Cecum Adenocarcinoma. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is HMX3.
UniProtKB/Swiss-Prot for HMX2 Gene
-
Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMX2 Gene
Genomics for HMX2 Gene
Regulatory Elements for HMX2 Gene
Enhancers for HMX2 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 |
|---|---|---|---|---|---|---|---|---|
| GH10G123143 | 1 | VISTA ENCODE | 0.7 | +1.9 | 1902 | 1.8 | CTCF SUZ12 MAX RBBP5 ZIC2 RAD21 ZNF7 YY1 ZFHX2 NR2F6 | HMX2 BUB3 |
| GH10G123139 | 1 | ENCODE | 0.7 | -3.1 | -3097 | 1.7 | ARNT ARID4B SIN3A ZNF48 TCF12 GATA2 SP5 NCOA1 REST MIER2 | ACADSB IKZF5 HMX2 HMX3 |
| GH10G123140 | 0.7 | ENCODE | 0.7 | -1.9 | -1922 | 0.2 | CTCF RNF2 SUZ12 CBX2 RAD21 POLR2A HDAC2 MBD1 GABPB1 ZBTB33 | HMX2 HMX3 |
| GH10G123138 | 0.7 | ENCODE | 0.7 | -4.6 | -4602 | 0.2 | HDAC1 RNF2 SUZ12 HINFP NRF1 CHD1 CBX2 RBBP5 CBX8 CTBP2 | HMX2 HMX3 |
| GH10G123147 | 1.1 | Ensembl ENCODE | 0.4 | +6.4 | 6401 | 3.0 | ZSCAN4 RAD21 YY1 EGR1 FOS EGR2 NFYC NFIL3 CEBPA ZBTB33 | C10orf88 BUB3 HMX2 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HMX2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HMX2 gene promoter:
Regulatory Element Products
Genomic Location for HMX2 Gene
- Chromosome:
- 10
- Start:
- 123,142,421 bp from pter
- End:
- 123,150,672 bp from pter
- Size:
- 8,252 bases
- Orientation:
- Plus strand
Genomic View for HMX2 Gene
Genes around HMX2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q26.13 by Ensembl
- 10q26.13 by Entrez Gene
- 10q26.13 by HGNC
HMX2 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 HMX2 Gene
Proteins for HMX2 Gene
-
Protein details for HMX2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- A2RU54-HMX2_HUMAN
- Recommended name:
- Homeobox protein HMX2
- Protein Accession:
- A2RU54
- B2RNV5
Protein attributes for HMX2 Gene
- Size:
- 273 amino acids
- Molecular mass:
- 29598 Da
- Quaternary structure:
- No Data Available
Protein Expression for HMX2 Gene
Post-translational modifications for HMX2 Gene
Other Protein References for HMX2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for HMX2
- Novus Biologicals Antibodies for HMX2
-
Abcam antibodies for HMX2
- Invitrogen Antibodies for HMX2
- antibodies-online Antibodies for HMX2: See all 39
- Search GeneTex for Antibodies for HMX2
Protein Products
-
OriGene Purified Proteins for HMX2
- Search Origene for MassSpec and Protein Over-expression Lysates for HMX2
- Origene Custom Protein Services for HMX2
- antibodies-online Proteins for HMX2: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HMX2
Assay Products
No data available for DME Specific Peptides for HMX2 Gene
Domains & Families for HMX2 Gene
Gene Families for HMX2 Gene
Protein Domains for HMX2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HMX2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
A2RU54- Family:
-
- Belongs to the HMX homeobox family.
Function for HMX2 Gene
Molecular function for HMX2 Gene
- UniProtKB/Swiss-Prot Function:
- Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0043565 | sequence-specific DNA binding | IEA | -- |
Phenotypes for HMX2 Gene
- MGI mutant phenotypes for HMX2:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for HMX2:
Animal Models for HMX2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HMX2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HMX2 gene
- Search ViGene Biosciences for HMX2
CRISPR Products
-
OriGene CRISPR knockouts for HMX2
-
Santa Cruz Biotechnology (SCBT) CRISPR for HMX2
- GenScript: Design CRISPR guide RNA sequences for HMX2
miRNA for HMX2 Gene
- miRTarBase miRNAs that target HMX2
miRNA Products
- Search ViGene Biosciences for HMX2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HMX2
- Browse OriGene Inhibitory RNA Products For HMX2
-
ViGene Biosciences ready-to-package AAV shRNAs for HMX2 gene
Clone Products
- Sino Biological Human cDNA Clone for HMX2
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Cell Line Products
-
Horizon Cell Lines for HMX2
-
ViGene Biosciences adenoviral particle packaged cDNA for HMX2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HMX2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HMX2 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HMX2 Gene
Localization for HMX2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HMX2 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
Pathways & Interactions for HMX2 Gene
No Data Available
Interacting Proteins for HMX2 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 HMX2 Gene
Transcripts for HMX2 Gene
mRNA/cDNA for HMX2 Gene
- (2) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for HMX2
-
Santa Cruz Biotechnology (SCBT) CRISPR for HMX2
- GenScript: Design CRISPR guide RNA sequences for HMX2
miRNA Products
- Search ViGene Biosciences for HMX2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HMX2
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-
ViGene Biosciences ready-to-package AAV shRNAs for HMX2 gene
Clone Products
- Sino Biological Human cDNA Clone for HMX2
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Flow Cytometry Products
Expression for HMX2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
-
Kidney (Urinary System)
mRNA differential expression in normal tissues according to GTEx for HMX2 Gene
This gene is overexpressed in Kidney - Cortex (x15.7) and Brain - Hypothalamus (x8.5).
This gene is overexpressed in Pancreatic juice (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HMX2 Gene
NURSA nuclear receptor signaling pathways regulating expression of HMX2 Gene:
HMX2SOURCE GeneReport for Unigene cluster for HMX2 Gene:
Hs.444756Primer Products
-
OriGene qPCR primer pairs for HMX2
-
OriGene qPCR primer pairs and template standards for HMX2
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 HMX2 Gene
Orthologs for HMX2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HMX2 34 |
|
||
| cow (Bos Taurus) |
Mammalia | HMX2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HMX2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hmx2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hmx2 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HMX2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HMX2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HMX2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hmx2 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hmx2 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Hmx 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | mls-2 35 |
|
OneToMany |
- Species where no ortholog for HMX2 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)
- 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)
- 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)
- wheat (Triticum aestivum)
Paralogs for HMX2 Gene
Paralogs for HMX2 Gene
(28) SIMAP similar genes for HMX2 Gene using alignment to 2 proteins:
Variants for HMX2 Gene
| SNP ID | Clin | Chr 10 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000331489 | -- | 123,141,853(+) | CACAC(C/T)GTAGA | upstream-variant-2KB | |
| rs1000891695 | -- | 123,142,190(+) | GATCC(C/T)ACTCA | upstream-variant-2KB | |
| rs1000911969 | -- | 123,145,550(+) | AACTT(C/T)CTTGT | intron-variant | |
| rs1001022112 | -- | 123,150,384(+) | GAGAT(A/G)TTCTC | utr-variant-3-prime | |
| rs1001266205 | -- | 123,145,790(+) | TCTCT(C/T)CCTCC | intron-variant |
Residual Variation Intolerance Score:
79.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.54;
44.31% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HMX2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HMX2 Gene
Disorders for HMX2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cecal benign neoplasm |
|
|
| cecum adenocarcinoma |
|
|
| oculoauricular syndrome |
|
|
| split hand-split foot malformation |
|
|
| split foot |
|
|
Search HMX2 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for HMX2
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- HMX2
No data available for UniProtKB/Swiss-Prot and Genatlas for HMX2 Gene
Publications for HMX2 Gene
- Phylogenetic conservation and physical mapping of members of the H6 homeobox gene family. (PMID: 7647458) Stadler H.S. … Solursh M. (Mamm. Genome 1995) 2 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
- Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass. (PMID: 19379485) Munroe R.J. … Schimenti J.C. (BMC Dev. Biol. 2009) 22 64
- A whole-genome scan for 24-hour respiration rate: a major locus at 10q26 influences respiration during sleep. (PMID: 15558495) de Geus E.J. … Boomsma D.I. (Am. J. Hum. Genet. 2005) 3 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
Products for HMX2 Gene
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- Custom Antibody ServicesOriGene Antibodies for HMX2
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- OriGene qPCR primer pairs and template standards for HMX2
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- Novus Biologicals Antibodies for HMX2
- Novus Biologicals proteins and lysates for HMX2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- antibodies-online Antibodies for HMX2: See all 39
- Search antibodies-online for kits
- antibodies-online Proteins for HMX2: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Antibodies for HMX2
- Search GeneTex for Proteins for HMX2
- ViGene Biosciences adenoviral particle packaged cDNA for HMX2 gene
- ViGene Biosciences lentiviral particle packaged cDNA for HMX2 gene
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- Search ViGene Biosciences for HMX2
- Horizon Cell Lines for HMX2
- Cyagen custom Knockout/knockin (KOKI) mouse models for HMX2
- VectorBuilder custom plasmid, inducible vectors for HMX2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HMX2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
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- 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 HMX2 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