HMX1 (H6 family homeobox 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3166
Gene name Gene Name - the full gene name approved by the HGNC.
H6 family homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HMX1
Synonyms (NCBI Gene) Gene synonyms aliases
H6, NKX5-3
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p16.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5`-CAAG-3` core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricula
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs876657398 T>G Pathogenic Coding sequence variant, intron variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(54)
miRTarBase ID miRNA Experiments Reference
MIRT438707 hsa-miR-211-5p Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot 24641951
MIRT438706 hsa-miR-204-5p Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot 24641951
MIRT438707 hsa-miR-211-5p Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot 24641951
MIRT438706 hsa-miR-204-5p Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot 24641951
MIRT487219 hsa-miR-4779 PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
142992 5017 ENSG00000215612
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9NP08
Protein name Homeobox protein HMX1 (Homeobox protein H6)
Protein function DNA-binding protein that binds to the 5'-CAAG-3' core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 204 → 260 Homeodomain Domain
Sequence 
MPDELTEPGRATPARASSFLIENLLAAEAKGAGRATQGDGSREDEEEDDDDPEDEDAEQA
RRRRLQRRRQLLAGTGPGGEARARALLGPGALGLGPRPPPGPGPPFALGCGGAARWYPRA
HGGYGGGLSPDTSDRDSPETGEEMGRAEGAWPRGPGPGAVQREAAELAARGPAAGTEEAS
ELAEVPAAAGETRGGVGVGGGRKKKTRTVFSRSQVFQLESTFDLKRYLSSAERAGLAASL
QLTETQVKIWFQNRRNKWKRQLAAELEAASLSPPGAQRLVRVPVLYHESPPAAAAAGPPA
TLPFPLAPAAPAPPPPLLGFSGALAYPLAAFPAAASVPFLRAQMPGLV
Sequence length 348
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Oculoauricular Syndrome oculoauricular syndrome rs876657398 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cataract Cataract N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
retinal dystrophy Retinal dystrophy N/A N/A ClinVar
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Congenital Microtia Associate 24983964, 34087987
Ear Diseases Associate 34087987
Sjogren's Syndrome Associate 34594326