Gene Gene information from NCBI Gene database.
Entrez ID 3167
Gene name H6 family homeobox 2
Gene symbol HMX2
Synonyms (NCBI Gene)
H6LNkx5-2
Chromosome 10
Chromosome location 10q26.13
Summary 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 pa
miRNA miRNA information provided by mirtarbase database.
135
miRTarBase ID miRNA Experiments Reference
MIRT504402 hsa-miR-449b-3p PAR-CLIP 20371350
MIRT504400 hsa-miR-5586-5p PAR-CLIP 20371350
MIRT504399 hsa-miR-4691-3p PAR-CLIP 20371350
MIRT504398 hsa-miR-6849-3p PAR-CLIP 20371350
MIRT504397 hsa-miR-598-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600647 5018 ENSG00000188816
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A2RU54
Protein name Homeobox protein HMX2 (Homeobox protein H6 family member 2)
Protein function Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 150 206 Homeodomain Domain
Sequence
MGSKEDAGKGCPAAGGVSSFTIQSILGGGPSEAPREPVGWPARKRSLSVSSEEEEPDDGW
KAPACFCPDQHGPKEQGPKHHPPIPFPCLGTPKGSGGSGPGGLERTPFLSPSHSDFKEEK
ERLLPAGSPSPGSERPRDGGAERQAGAAKKKTRTVFSRSQVYQLESTFDMKRYLSSSERA
CLASSLQLTETQVKTWFQNRRNKWKR
QLSAELEAANMAHASAQTLVSMPLVFRDSSLLRV
PVPRSLAFPAPLYYPGSNLSALPLYNLYNKLDY
Sequence length 273
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
High myopia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HMX2-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Astrocytoma Astrocytoma Pubtator 33051600 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 19723660 Associate
★☆☆☆☆
Found in Text Mining only
Congenital sensorineural hearing loss Congenital Sensorineural Hearing Loss BEFREE 19253379
★☆☆☆☆
Found in Text Mining only
Hearing Loss Sensorineural Hearing loss Pubtator 19253379 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 33048949 Associate
★☆☆☆☆
Found in Text Mining only
Meniere Disease Meniere Disease BEFREE 31106404
★☆☆☆☆
Found in Text Mining only
Vestibular Diseases Vestibular disease Pubtator 19253379 Associate
★☆☆☆☆
Found in Text Mining only