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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	283446
Gene name	Myosin IH
Gene symbol	MYO1H
Synonyms (NCBI Gene)	CCHS2
Chromosome	12
Chromosome location	12q24.11

145

Show/Hide all (145)

miRTarBase ID	miRNA	Experiments	Reference
MIRT620411	hsa-miR-8485	HITS-CLIP	23824327
MIRT620410	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT620409	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT620408	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT620407	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT620406	hsa-miR-3622a-3p	HITS-CLIP	23824327
MIRT620405	hsa-miR-3622b-3p	HITS-CLIP	23824327
MIRT620404	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT620403	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT620402	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT620401	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT620400	hsa-miR-6804-3p	HITS-CLIP	23824327
MIRT620399	hsa-miR-3144-5p	HITS-CLIP	23824327
MIRT620398	hsa-miR-3191-3p	HITS-CLIP	23824327
MIRT620397	hsa-miR-4652-5p	HITS-CLIP	23824327
MIRT620396	hsa-miR-500a-3p	HITS-CLIP	23824327
MIRT620395	hsa-miR-2110	HITS-CLIP	23824327
MIRT620394	hsa-miR-6810-5p	HITS-CLIP	23824327
MIRT620393	hsa-miR-3150a-3p	HITS-CLIP	23824327
MIRT620392	hsa-miR-6763-5p	HITS-CLIP	23824327
MIRT620391	hsa-miR-6857-5p	HITS-CLIP	23824327
MIRT620390	hsa-miR-450a-2-3p	HITS-CLIP	23824327
MIRT620411	hsa-miR-8485	HITS-CLIP	23824327
MIRT620410	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT620409	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT620408	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT620407	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT620406	hsa-miR-3622a-3p	HITS-CLIP	23824327
MIRT620405	hsa-miR-3622b-3p	HITS-CLIP	23824327
MIRT620404	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT620403	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT620402	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT620401	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT620400	hsa-miR-6804-3p	HITS-CLIP	23824327
MIRT620399	hsa-miR-3144-5p	HITS-CLIP	23824327
MIRT620398	hsa-miR-3191-3p	HITS-CLIP	23824327
MIRT620397	hsa-miR-4652-5p	HITS-CLIP	23824327
MIRT620396	hsa-miR-500a-3p	HITS-CLIP	23824327
MIRT620395	hsa-miR-2110	HITS-CLIP	23824327
MIRT620394	hsa-miR-6810-5p	HITS-CLIP	23824327
MIRT620393	hsa-miR-3150a-3p	HITS-CLIP	23824327
MIRT620392	hsa-miR-6763-5p	HITS-CLIP	23824327
MIRT620391	hsa-miR-6857-5p	HITS-CLIP	23824327
MIRT620390	hsa-miR-450a-2-3p	HITS-CLIP	23824327
MIRT540543	hsa-miR-6748-3p	PAR-CLIP	21572407
MIRT540544	hsa-miR-4421	PAR-CLIP	21572407
MIRT540542	hsa-miR-5699-3p	PAR-CLIP	21572407
MIRT540541	hsa-miR-219b-3p	PAR-CLIP	21572407
MIRT540540	hsa-miR-6804-5p	PAR-CLIP	21572407
MIRT540539	hsa-miR-609	PAR-CLIP	21572407
MIRT620411	hsa-miR-8485	HITS-CLIP	23824327
MIRT620410	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT620409	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT620408	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT620407	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT620406	hsa-miR-3622a-3p	HITS-CLIP	23824327
MIRT620405	hsa-miR-3622b-3p	HITS-CLIP	23824327
MIRT620404	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT620403	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT620402	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT620401	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT620400	hsa-miR-6804-3p	HITS-CLIP	23824327
MIRT620399	hsa-miR-3144-5p	HITS-CLIP	23824327
MIRT620398	hsa-miR-3191-3p	HITS-CLIP	23824327
MIRT620397	hsa-miR-4652-5p	HITS-CLIP	23824327
MIRT620396	hsa-miR-500a-3p	HITS-CLIP	23824327
MIRT620395	hsa-miR-2110	HITS-CLIP	23824327
MIRT620394	hsa-miR-6810-5p	HITS-CLIP	23824327
MIRT620393	hsa-miR-3150a-3p	HITS-CLIP	23824327
MIRT620392	hsa-miR-6763-5p	HITS-CLIP	23824327
MIRT620391	hsa-miR-6857-5p	HITS-CLIP	23824327
MIRT620390	hsa-miR-450a-2-3p	HITS-CLIP	23824327
MIRT620411	hsa-miR-8485	HITS-CLIP	23824327
MIRT620410	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT620409	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT620408	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT620407	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT620406	hsa-miR-3622a-3p	HITS-CLIP	23824327
MIRT620405	hsa-miR-3622b-3p	HITS-CLIP	23824327
MIRT620404	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT620403	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT620402	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT620401	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT620400	hsa-miR-6804-3p	HITS-CLIP	23824327
MIRT620399	hsa-miR-3144-5p	HITS-CLIP	23824327
MIRT620398	hsa-miR-3191-3p	HITS-CLIP	23824327
MIRT620397	hsa-miR-4652-5p	HITS-CLIP	23824327
MIRT620396	hsa-miR-500a-3p	HITS-CLIP	23824327
MIRT620395	hsa-miR-2110	HITS-CLIP	23824327
MIRT620394	hsa-miR-6810-5p	HITS-CLIP	23824327
MIRT620393	hsa-miR-3150a-3p	HITS-CLIP	23824327
MIRT620392	hsa-miR-6763-5p	HITS-CLIP	23824327
MIRT620391	hsa-miR-6857-5p	HITS-CLIP	23824327
MIRT620390	hsa-miR-450a-2-3p	HITS-CLIP	23824327
MIRT540543	hsa-miR-6748-3p	PAR-CLIP	21572407
MIRT540544	hsa-miR-4421	PAR-CLIP	21572407
MIRT540542	hsa-miR-5699-3p	PAR-CLIP	21572407
MIRT540541	hsa-miR-219b-3p	PAR-CLIP	21572407
MIRT540540	hsa-miR-6804-5p	PAR-CLIP	21572407
MIRT540539	hsa-miR-609	PAR-CLIP	21572407
MIRT1169543	hsa-miR-1256	CLIP-seq
MIRT1169544	hsa-miR-127-5p	CLIP-seq
MIRT1169545	hsa-miR-147	CLIP-seq
MIRT1169546	hsa-miR-1912	CLIP-seq
MIRT1169547	hsa-miR-2115	CLIP-seq
MIRT1169548	hsa-miR-3180-5p	CLIP-seq
MIRT1169549	hsa-miR-3607-5p	CLIP-seq
MIRT1169550	hsa-miR-3663-3p	CLIP-seq
MIRT1169551	hsa-miR-3672	CLIP-seq
MIRT1169552	hsa-miR-3688-5p	CLIP-seq
MIRT1169553	hsa-miR-4329	CLIP-seq
MIRT1169554	hsa-miR-4527	CLIP-seq
MIRT1169555	hsa-miR-4635	CLIP-seq
MIRT1169556	hsa-miR-4729	CLIP-seq
MIRT1169557	hsa-miR-516a-3p	CLIP-seq
MIRT1169558	hsa-miR-520a-5p	CLIP-seq
MIRT1169559	hsa-miR-525-5p	CLIP-seq
MIRT1169560	hsa-miR-548p	CLIP-seq
MIRT1169561	hsa-miR-599	CLIP-seq
MIRT1169562	hsa-miR-671-5p	CLIP-seq
MIRT2048858	hsa-miR-499-3p	CLIP-seq
MIRT2048859	hsa-miR-499a-3p	CLIP-seq
MIRT2277759	hsa-miR-296-3p	CLIP-seq
MIRT2277760	hsa-miR-3127-5p	CLIP-seq
MIRT2277761	hsa-miR-515-5p	CLIP-seq
MIRT2431444	hsa-miR-27a	CLIP-seq
MIRT2431445	hsa-miR-27b	CLIP-seq
MIRT2431446	hsa-miR-4496	CLIP-seq
MIRT2431447	hsa-miR-513a-3p	CLIP-seq
MIRT2431448	hsa-miR-513a-5p	CLIP-seq
MIRT2431449	hsa-miR-651	CLIP-seq
MIRT2454711	hsa-miR-1291	CLIP-seq
MIRT2454712	hsa-miR-1324	CLIP-seq
MIRT1169546	hsa-miR-1912	CLIP-seq
MIRT2454713	hsa-miR-3173-5p	CLIP-seq
MIRT2454714	hsa-miR-328	CLIP-seq
MIRT2454715	hsa-miR-3677-5p	CLIP-seq
MIRT2454716	hsa-miR-663b	CLIP-seq
MIRT2454711	hsa-miR-1291	CLIP-seq
MIRT2454712	hsa-miR-1324	CLIP-seq
MIRT1169546	hsa-miR-1912	CLIP-seq
MIRT2454713	hsa-miR-3173-5p	CLIP-seq
MIRT2454714	hsa-miR-328	CLIP-seq
MIRT2454715	hsa-miR-3677-5p	CLIP-seq
MIRT2454716	hsa-miR-663b	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005884	Component	Actin filament	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005902	Component	Microvillus	IBA
GO:0006897	Process	Endocytosis	IBA
GO:0007015	Process	Actin filament organization	IBA
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0016459	Component	Myosin complex	IEA
GO:0030048	Process	Actin filament-based movement	IBA
GO:0051015	Function	Actin filament binding	IBA

MIM	HGNC	e!Ensembl
614636	13879	ENSG00000174527

Q8N1T3

Protein name

Unconventional myosin-Ih (Myosin-1H)

Protein function

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments

PDB

6MBM , 8EB1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00063	Myosin_head	13 → 688	Myosin head (motor domain)	Domain
PF06017	Myosin_TH1	844 → 1027	Unconventional myosin tail, actin- and lipid-binding	Domain

Sequence

MEGALTARDKVGVQDFVLLDAYTSESAFVDNLRKRFSENLIYTYIGTLLVSVNPYQELGI
YTVSQMELYQGVNFFELPPHVYAIADNAYRMMCAELNNHFILISGESGAGKTEASKKILE
YFAVTCPMTQSLQIARDRLLFSNPVLEAFGNARTLRNDNSSRFGKYMDIQFDFQGIPVGG
HIISYLIEKSRVVYQNEGERNFHIFYQLLAGGEEERLSYLGLERDPQLYKYLSQGHCAKE
SSISDKNDWKTVSNAFSVIDFTEADLENLFGIIASVLHLGNIGFEEDDQGCATIPDTHEI
KWIAKLLGVHPSVLLEALTHRKIEAKTEEVICPLTLELSVYARDAMAKAVYGRTFTWLVN
KINSSLVNKVGQRILDPLLLLTWKTVIGLLDIYGFEVFDKNGFEQFCINYCNEKLQQLLI
ERTLKAEQAEYEMEGIEWEPIKYFNNKIICDLVEERHKGIISILDEECIRPGPATDLSFL
EKLEEKVGKHAHFETRKLAGPKGRKRIGWMEFRLLHYAGEVTYCTKGFLEKNNDLLYRHL
KEVLCKSKNIILRECFLLAELENRRRPPTVGTQFKNSLSSLLETLISKEPSYIRCIKPND
RKEPSKFDDFLIRHQIKYLGLMEHLRVRRAGFAYRRKYEHFLQRYKSLCPDTWPHWHGPP
AEGVERLIKYIGYKPEEYKLGKTKIFIRFPRTLFATEDAFEFSKHQLVARIQATYKRCLG
RREYVKKRQAAIKLEAHWRGALARKAIQRRKWAVRIIRKFIKGFISRNKPLCPDNEEFIV
FVRKNYILNLRYHLPKTVLDKSWLRPPGILENASDLLRKMCVRNLVQKYCRGITAERKAM
MQQKVVTSEIFRGRKDGYTESLNQPFVNSRIDEGDINPKVLQLISHEKIQYGVPVIKYDR
KGFKARQRQLILTQKAAYVVELAKIKQKIEYSALKGVSTSNLSDGILVIHVSPEDSKQKG
DAVLQCGHVFEAVTKLVMLVKKENIVNVVQGSLQFFISPGKEGTIVFDTGLEEQVYKNKN
GQLTVVSVRRKS

Sequence length

1032

Interactions

View interactions

	KEGG
	Motor proteins Pathogenic Escherichia coli infection

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction	Pathogenic; Likely pathogenic	rs1872134198, rs773351711	RCV001580373 RCV002466293	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (11)

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.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCHS WITH HIRSCHSPRUNG DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CENTRAL HYPOVENTILATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CENTRAL HYPOVENTILATION SYNDROME	—	ClinGen, Orphanet ClinGen, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	29121268		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Class III malocclusion	Malocclusion	BEFREE	22196185, 28364893, 29986156		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation	Congenital Central Hypoventilation	ORPHANET_DG	28779001		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ganglioneuroblastoma	Ganglioneuroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29942085		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malocclusion	Malocclusion	Pubtator	24698832, 25910506	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ondine syndrome	Ondine Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retrognathia	Retrognathia	Pubtator	33448167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	29121268		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MYO1H (myosin IH)