Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	340784
Gene name	H6 family homeobox 3
Gene symbol	HMX3
Synonyms (NCBI Gene)	NKX-5.1NKX5.1Nkx5-1
Chromosome	10
Chromosome location	10q26.13

Show/Hide all (62)

miRTarBase ID	miRNA	Experiments	Reference
MIRT702940	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT702939	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT702938	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT702937	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT702936	hsa-miR-1292-3p	HITS-CLIP	23313552
MIRT702935	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT702934	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT702933	hsa-miR-1285-3p	HITS-CLIP	23313552
MIRT702932	hsa-miR-3187-5p	HITS-CLIP	23313552
MIRT702931	hsa-miR-5189-5p	HITS-CLIP	23313552
MIRT702930	hsa-miR-612	HITS-CLIP	23313552
MIRT702929	hsa-miR-6860	HITS-CLIP	23313552
MIRT702928	hsa-miR-4252	HITS-CLIP	23313552
MIRT702927	hsa-miR-661	HITS-CLIP	23313552
MIRT702926	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT702925	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT702924	hsa-miR-7703	HITS-CLIP	23313552
MIRT443411	hsa-miR-548ac	PAR-CLIP	22100165
MIRT443410	hsa-miR-548bb-3p	PAR-CLIP	22100165
MIRT443409	hsa-miR-548d-3p	PAR-CLIP	22100165
MIRT443408	hsa-miR-548h-3p	PAR-CLIP	22100165
MIRT443407	hsa-miR-548z	PAR-CLIP	22100165
MIRT443406	hsa-miR-548aa	PAR-CLIP	22100165
MIRT443405	hsa-miR-548ap-3p	PAR-CLIP	22100165
MIRT443404	hsa-miR-548t-3p	PAR-CLIP	22100165
MIRT443403	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT443402	hsa-miR-889-3p	PAR-CLIP	22100165
MIRT443401	hsa-miR-4753-3p	PAR-CLIP	22100165
MIRT443400	hsa-miR-4768-5p	PAR-CLIP	22100165
MIRT443399	hsa-miR-6833-3p	PAR-CLIP	22100165
MIRT443398	hsa-miR-6809-3p	PAR-CLIP	22100165
MIRT702940	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT702939	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT702938	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT702937	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT702936	hsa-miR-1292-3p	HITS-CLIP	23313552
MIRT702935	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT702934	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT702933	hsa-miR-1285-3p	HITS-CLIP	23313552
MIRT702932	hsa-miR-3187-5p	HITS-CLIP	23313552
MIRT702931	hsa-miR-5189-5p	HITS-CLIP	23313552
MIRT702930	hsa-miR-612	HITS-CLIP	23313552
MIRT702929	hsa-miR-6860	HITS-CLIP	23313552
MIRT702928	hsa-miR-4252	HITS-CLIP	23313552
MIRT702927	hsa-miR-661	HITS-CLIP	23313552
MIRT702926	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT702925	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT702924	hsa-miR-7703	HITS-CLIP	23313552
MIRT443411	hsa-miR-548ac	PAR-CLIP	22100165
MIRT443410	hsa-miR-548bb-3p	PAR-CLIP	22100165
MIRT443409	hsa-miR-548d-3p	PAR-CLIP	22100165
MIRT443408	hsa-miR-548h-3p	PAR-CLIP	22100165
MIRT443407	hsa-miR-548z	PAR-CLIP	22100165
MIRT443406	hsa-miR-548aa	PAR-CLIP	22100165
MIRT443405	hsa-miR-548ap-3p	PAR-CLIP	22100165
MIRT443404	hsa-miR-548t-3p	PAR-CLIP	22100165
MIRT443403	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT443402	hsa-miR-889-3p	PAR-CLIP	22100165
MIRT443401	hsa-miR-4753-3p	PAR-CLIP	22100165
MIRT443400	hsa-miR-4768-5p	PAR-CLIP	22100165
MIRT443399	hsa-miR-6833-3p	PAR-CLIP	22100165
MIRT443398	hsa-miR-6809-3p	PAR-CLIP	22100165

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence
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
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
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007420	Process	Brain development	IEA
GO:0007566	Process	Embryo implantation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043583	Process	Ear development	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0060135	Process	Maternal process involved in female pregnancy	IEA

MIM	HGNC	e!Ensembl
613380	5019	ENSG00000188620

A6NHT5

Protein name

Homeobox protein HMX3 (Homeobox protein H6 family member 3) (Homeobox protein Nkx-5.1)

Protein 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 require

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	228 → 284	Homeodomain	Domain

Sequence

MPEPGPDAAGTASAQPQPPPPPPPAPKESPFSIKNLLNGDHHRPPPKPQPPPRTLFAPAS
AAAAAAAAAAAAAKGALEGAAGFALSQVGDLAFPRFEIPAQRFALPAHYLERSPAWWYPY
TLTPAGGHLPRPEASEKALLRDSSPASGTDRDSPEPLLKADPDHKELDSKSPDEIILEES
DSEESKKEGEAAPGAAGASVGAAAATPGAEDWKKGAESPEKKPACRKKKTRTVFSRSQVF
QLESTFDMKRYLSSSERAGLAASLHLTETQVKIWFQNRRNKWKRQLAAELEAANLSHAAA
QRIVRVPILYHENSAAEGAAAAAAGAPVPVSQPLLTFPHPVYYSHPVVSSVPLLRPV

Sequence length

357

Interactions

View interactions

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)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
LEWY BODY DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Astrocytoma	Astrocytoma	Pubtator	33051600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36204976	Inhibit	★★★★★ ★☆☆☆☆ 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
Vestibular Diseases	Vestibular disease	Pubtator	19253379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HMX3 (H6 family homeobox 3)