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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	3166
Gene name	H6 family homeobox 1
Gene symbol	HMX1
Synonyms (NCBI Gene)	H6NKX5-3
Chromosome	4
Chromosome location	4p16.1
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs876657398	T>G	Pathogenic	Coding sequence variant, intron variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT438707	hsa-miR-211-5p	ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot	24641951
MIRT438706	hsa-miR-204-5p	ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot	24641951
MIRT438707	hsa-miR-211-5p	ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot	24641951
MIRT438706	hsa-miR-204-5p	ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot	24641951
MIRT487219	hsa-miR-4779	PAR-CLIP	23592263
MIRT487218	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT487216	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT487217	hsa-miR-3195	PAR-CLIP	23592263
MIRT487215	hsa-miR-3656	PAR-CLIP	23592263
MIRT487214	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT487213	hsa-miR-7154-3p	PAR-CLIP	23592263
MIRT487211	hsa-miR-765	PAR-CLIP	23592263
MIRT487212	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT487210	hsa-miR-6827-5p	PAR-CLIP	23592263
MIRT487209	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT487208	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT487207	hsa-miR-363-5p	PAR-CLIP	23592263
MIRT487206	hsa-miR-6745	PAR-CLIP	23592263
MIRT487205	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT487203	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT487204	hsa-miR-3141	PAR-CLIP	23592263
MIRT487219	hsa-miR-4779	PAR-CLIP	23592263
MIRT487218	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT487216	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT487217	hsa-miR-3195	PAR-CLIP	23592263
MIRT487215	hsa-miR-3656	PAR-CLIP	23592263
MIRT487214	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT487213	hsa-miR-7154-3p	PAR-CLIP	23592263
MIRT487211	hsa-miR-765	PAR-CLIP	23592263
MIRT487212	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT487210	hsa-miR-6827-5p	PAR-CLIP	23592263
MIRT487209	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT487208	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT487207	hsa-miR-363-5p	PAR-CLIP	23592263
MIRT487206	hsa-miR-6745	PAR-CLIP	23592263
MIRT487205	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT487203	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT487204	hsa-miR-3141	PAR-CLIP	23592263
MIRT1050180	hsa-miR-1184	CLIP-seq
MIRT1050181	hsa-miR-1205	CLIP-seq
MIRT1050182	hsa-miR-1225-3p	CLIP-seq
MIRT1050183	hsa-miR-1231	CLIP-seq
MIRT1050184	hsa-miR-1915	CLIP-seq
MIRT1050185	hsa-miR-2467-3p	CLIP-seq
MIRT1050186	hsa-miR-3120-5p	CLIP-seq
MIRT1050187	hsa-miR-3158-5p	CLIP-seq
MIRT1050188	hsa-miR-3678-3p	CLIP-seq
MIRT1050189	hsa-miR-4323	CLIP-seq
MIRT1050190	hsa-miR-4475	CLIP-seq
MIRT1050191	hsa-miR-4651	CLIP-seq
MIRT1050192	hsa-miR-4726-3p	CLIP-seq
MIRT1050193	hsa-miR-566	CLIP-seq
MIRT1050194	hsa-miR-604	CLIP-seq
MIRT1050195	hsa-miR-608	CLIP-seq

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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
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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	IMP	10206974
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	10206974
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:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	10206974
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
142992	5017	ENSG00000215612

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

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Isolated microphthalmia 6	Pathogenic	rs2474393026	RCV003389574
Oculoauricular syndrome	Pathogenic	rs876657398, rs63751898	RCV000172907 RCV000015991

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
HMX1-related disorder	Likely benign; Benign; Uncertain significance	rs1341154598, rs760646462, rs574706311, rs575165175, rs376695621, rs933276759, rs539199460, rs998640735	RCV003973226 RCV003908649 RCV003948474 RCV003908738 RCV003940969 RCV003944537 RCV003939377 RCV004758157
Retinal dystrophy	Uncertain significance	rs1031498533, rs577238615, rs773754788, rs777752890	RCV004815464 RCV004813615 RCV004813621 RCV004813752

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Congenital Microtia	Associate	24983964, 34087987
Ear Diseases	Associate	34087987
Sjogren's Syndrome	Associate	34594326

HMX1 (H6 family homeobox 1)