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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84700
Gene name	Myosin XVIIIB
Gene symbol	MYO18B
Synonyms (NCBI Gene)	KFS4
Chromosome	22
Chromosome location	22q12.1
Summary	The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene a

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs192639023	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs556752387	C>A,T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs753585568	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs756408696	ATTAGAACCTG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs773193391	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs869312740	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1569172839	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569308524	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

Show/Hide all (29)

miRTarBase ID	miRNA	Experiments	Reference
MIRT737294	hsa-miR-520g-3p	RNA-seqqRT-PCR	32704163
MIRT1169255	hsa-miR-1264	CLIP-seq
MIRT1169256	hsa-miR-182	CLIP-seq
MIRT1169257	hsa-miR-193a-3p	CLIP-seq
MIRT1169258	hsa-miR-193b	CLIP-seq
MIRT1169259	hsa-miR-219-2-3p	CLIP-seq
MIRT1169260	hsa-miR-2964a-3p	CLIP-seq
MIRT1169261	hsa-miR-3123	CLIP-seq
MIRT1169262	hsa-miR-3160-3p	CLIP-seq
MIRT1169263	hsa-miR-3173-3p	CLIP-seq
MIRT1169264	hsa-miR-3646	CLIP-seq
MIRT1169265	hsa-miR-3925-5p	CLIP-seq
MIRT1169266	hsa-miR-3926	CLIP-seq
MIRT1169267	hsa-miR-3976	CLIP-seq
MIRT1169268	hsa-miR-4436b-3p	CLIP-seq
MIRT1169269	hsa-miR-4470	CLIP-seq
MIRT1169270	hsa-miR-4476	CLIP-seq
MIRT1169271	hsa-miR-4480	CLIP-seq
MIRT1169272	hsa-miR-4487	CLIP-seq
MIRT1169273	hsa-miR-4709-3p	CLIP-seq
MIRT1169274	hsa-miR-4738-3p	CLIP-seq
MIRT1169275	hsa-miR-493	CLIP-seq
MIRT1169276	hsa-miR-539	CLIP-seq
MIRT1169277	hsa-miR-548s	CLIP-seq
MIRT1169278	hsa-miR-558	CLIP-seq
MIRT1169279	hsa-miR-765	CLIP-seq
MIRT2048740	hsa-miR-3130-3p	CLIP-seq
MIRT2048741	hsa-miR-4686	CLIP-seq
MIRT2048742	hsa-miR-4793-3p	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0016459	Component	Myosin complex	IEA
GO:0016460	Component	Myosin II complex	IBA
GO:0016461	Component	Unconventional myosin complex	IBA
GO:0016461	Component	Unconventional myosin complex	IDA	12547197
GO:0030017	Component	Sarcomere	IEA
GO:0030018	Component	Z disc	IEA
GO:0031032	Process	Actomyosin structure organization	IBA
GO:0031941	Component	Filamentous actin	IEA
GO:0032982	Component	Myosin filament	IBA
GO:0051015	Function	Actin filament binding	IBA
GO:0055013	Process	Cardiac muscle cell development	IEA

MIM	HGNC	e!Ensembl
607295	18150	ENSG00000133454

Q8IUG5

Protein name

Unconventional myosin-XVIIIb

Protein function

May be involved in intracellular trafficking of the muscle cell when in the cytoplasm, whereas entering the nucleus, may be involved in the regulation of muscle specific genes. May play a role in the control of tumor development and progression;

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00063	Myosin_head	573 → 1217	Myosin head (motor domain)	Domain

Tissue specificity

TISSUE SPECIFICITY: Selectively expressed in cardiac and skeletal muscles. Weakly expressed in testis, pancreas, placenta, prostate, lung and thymus.

Sequence

MAISSRLALWEQKIREEDKSPPPSSPPPLFSVIPGGFIKQLVRGTEKEAKEARQRKQLAV
ASPEREIPEISISQPNSKSSSGTRSGSQQISQDDQSSSPGSSDILGKESEGSRSPDPEQM
TSINGEKAQELGSSATPTKKTVPFKRGVRRGDVLLMVAKLDPDSAKPEKTHPHDAPPCKT
SPPATDTGKEKKGETSRTPCGSQASTEILAPKAEKTRTGGLGDPGQGTVALKKGEEGQSI
VGKGLGTPKTTELKEAEPQGKDRQGTRPQAQGPGEGVRPGKAEKEGAEPTNTVEKGNVSK
DVGSEGKHVRPQIPGRKWGGFLGRRSKWDGPQNKKDKEGVLLSKAEKTGEPQTQMEKTSQ
VQGELGDDLRMGEKAGELRSTTGKAGESWDKKEKMGQPQGKSGNAGEARSQTEKGCEAPK
EVSTMVESPAAPGKGGWPGSRGQEAEEPCSRAGDGAGALETELEGPSQPALEKDAERPRI
RKENQDGPAPQEEGKGGQSRDSDQAPEDRWYEAEKVWLAQKDGFTLATVLKPDEGTADLP
AGRVRLWIDADKTITEVDEEHVHRANPPELDQVEDLASLISVNESSVLNTLLQRYKAQLL
HTCTGPDLIVLQPRGPSVPSAGKVPKGRRDGLPAHIGSMAQRAYWALLNQRRDQSIVALG
WSGAGKTTCCEQVLEHLVGMAGSVDGRVSVEKIRATFTVLRAFGSVSMAHSRSATRFSMV
MSLDFNATGRITAAQLQTMLLEKSRVARQPEGESNFLVFSQMLAGLDLDLRTELNLHQMA
DSSSFGMGVWSKPEDKQKAAAAFAQLQGAMEMLGISESEQRAVWRVLAAIYHLGAAGACK
VGRKQFMRFEWANYAAEALGCEYEELNTATFKHHLRQIIQQMTFGPSRWGLEDEETSSGL
KMTGVDCVEGMASGLYQELFAAVVSLINRSFSSHHLSMASIMVVDSPGFQNPRHQGKDRA
ATFEELCHNYAHERLQLLFYQRTFVSTLQRYQEEGVPVQFDLPDPSPGTTVAVVDQNPSQ
VRLPAGGGAQDARGLFWVLDEEVHVEGSSDSVVLERLCAAFEKKGAGTEGSSALRTCEQP
LQCEIFHQLGWDPVRYDLTGWLHRAKPNLSALDAPQVLHQSKREELRSLFQARAKLPPVC
RAVAGLEGTSQQALQRSRMVRRTFASSLAAVRRKAPCSQIKLQMDALTSMIKRSRLHFIH
CLVPNPVVESRSGQESPPPPQPGRDKPGAGGPLALDIPALRVQLAGFHILEALRLHRTGY
ADHMGLTRFRRQFQVLDAPLLKKLMSTSEGIDERKAVEELLETLDLEKKAVAVGHSQVFL
KAGVISRLEKQREKLVSQSIVLFQAACKGFLSRQEFKKLKIRRLAAQCIQKNVAVFLAVK
DWPWWQLLGSLQPLLSATIGTEQLRAKEEELTTLRRKLEKSEKLRNELRQNTDLLESKIA
DLTSDLADERFKGDVACQVLESERAERLQAFREVQELKSKHEQVQKKLGDVNKQLEEAQQ
KIQLNDLERNPTGGADEWQMRFDCAQMENEFLRKRLQQCEERLDSELTARKELEQKLGEL
QSAYDGAKKMAHQLKRKCHHLTCDLEDTCVLLENQQSRNHELEKKQKKFDLQLAQALGES
VFEKGLREKVTQENTSVRWELGQLQQQLKQKEQEASQLKQQVEMLQDHKRELLGSPSLGE
NCVAGLKERLWKLESSALEQQKIQSQQENTIKQLEQLRQRFELEIERMKQMHQKDREDQE
EELEDVRQSCQKRLHQLEMQLEQEYEEKQMVLHEKQDLEGLIGTLCDQIGHRDFDVEKRL
RRDLRRTHALLSDVQLLLGTMEDGKTSVSKEELEKVHSQLEQSEAKCEEALKTQKVLTAD
LESMHSELENMTRNKSLVDEQLYRLQFEKADLLKRIDEDQDDLNELMQKHKDLIAQSAAD
IGQIQELQLQLEEAKKEKHKLQEQLQVAQMRIEYLEQSTVDRAIVSRQEAVICDLENKTE
FQKVQIKRFEVLVIRLRDSLIKMGEELSQAATSESQQRESSQYYQRRLEELKADMEELVQ
REAEASRRCMELEKYVEELAAVRQTLQTDLETSIRRIADLQAALEEVASSDSDTESVQTA
VDCGSSGRKEMDNVSILSSQPEGSLQSWLSCTLSLATDTMRTPSRQSATSSRILSPRINE
EAGDTERTQSALALSRARSTNVHSKTSGDKPVSPHFVRRQKYCHFGDGEVLAVQRKSTER
LEPASSPLASRSTNTSPLSREKLPSPSAALSEFVEGLRRKRAQRGQGSTLGLEDWPTLPI
YQTTGASTLRRGRAGSDEGNLSLRVGAKSPLEIEGAAGGLLRSTSLKCISSDGVGGTTLL
PEKSKTQFSSCESLLESRPSMGRKLSSPTTPRDMLLSPTLRPRRRCLESSVDDAGCPDLG
KEPLVFQNRQFAHLMEEPLGSDPFSWKLPSLDYERKTKVDFDDFLPAIRKPQTPTSLAGS
AKGGQDGSQRSSIHFETEEANRSFLSGIKTILKKSPEPKEDPAHLSDSSSSSGSIVSFKS
ADSIKSRPGIPRLAGDGGERTSPERREPGTGRKDDDVASIMKKYLQK

Sequence length

2567

Interactions

View interactions

	KEGG
	Motor proteins

300

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	Likely pathogenic; Pathogenic	rs1601331202, rs773577293, rs2145587855, rs572116317, rs1443918598, rs2145951020, rs1191610314, rs2147024104, rs757976244, rs17704912, rs770857621, rs375819351, rs556752387, rs869312740, rs983593929 View all (11 more)	RCV001775342 RCV001775343 RCV001784697 RCV001782480 RCV001782481 RCV001782482 RCV001782483 RCV001814922 RCV005645335 RCV002283417 RCV003388150 RCV004526967 RCV000190875 RCV000210031 RCV003130949 RCV003236235 RCV003234964 RCV003234969 RCV003331992 RCV004527101 RCV000721135 RCV000721136 RCV000785017 RCV000995814 RCV001007773 RCV001335235
Klippel-Feil syndrome	Likely pathogenic	rs1569172839	RCV000785018
MYO18B-related disorder	Likely pathogenic; Pathogenic	rs775126785, rs748007891, rs748069734, rs2086697982	RCV003407901 RCV003418347 RCV003408506 RCV003394319
Nemaline myopathy	Pathogenic	rs869312740	RCV004586628

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs7284177, rs9613048, rs7290069, rs34414355, rs58746292	RCV005917228 RCV005921814 RCV005928301 RCV005926121 RCV005908663
Cardiomyopathy	Uncertain significance	rs199743824	RCV006255211
Cervical cancer	Benign	rs7290069, rs34414355	RCV005928304 RCV005926124
Cholangiocarcinoma	Benign	rs34414355	RCV005926127
Colon adenocarcinoma	Benign; Likely benign	rs7284177, rs373074703	RCV005917227 RCV005928388
Fraser syndrome 3	Uncertain significance	rs758877751	RCV001251018
Gastric cancer	Benign	rs7284177, rs114954424, rs58746292	RCV005917230 RCV005925137 RCV005908664
Hepatocellular carcinoma	Benign	rs7290069, rs34414355	RCV005928302 RCV005926122
Limb-girdle muscular dystrophy	Benign; Likely benign; Conflicting classifications of pathogenicity	rs200316291, rs760716300	RCV005622103 RCV005622204
Lung cancer	Benign	rs117048307	RCV005920961
Malignant lymphoma, large B-cell, diffuse	Benign	rs5761271	RCV005923091
Malignant tumor of esophagus	Benign; Uncertain significance	rs113027771, rs117048307, rs7290069, rs34414355, rs764469212	RCV005922088 RCV005920958 RCV005928303 RCV005926123 RCV005926813
Ovarian serous cystadenocarcinoma	Benign	rs7284177, rs114954424, rs7290069	RCV005917231 RCV005925138 RCV005928305
Sarcoma	Benign	rs7284177, rs113027771, rs117048307, rs34414355	RCV005917229 RCV005922089 RCV005920959 RCV005926125
See cases	Conflicting classifications of pathogenicity	rs372933587	RCV002253185
Squamous cell carcinoma of the head and neck	Uncertain significance	rs374817192	RCV005930554
Thymoma	Benign	rs9613048, rs34414355	RCV005921816 RCV005926126
Uterine carcinosarcoma	Benign	rs7284177, rs9613048, rs114954424, rs117048307	RCV005917232 RCV005921815 RCV005925139 RCV005920960
Uterine corpus endometrial carcinoma	Benign	rs114954424	RCV005925140

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arrhythmias Cardiac	Associate	34338756
Atrial Fibrillation	Associate	34338756
Breast Neoplasms	Associate	36140725
Carcinoma Hepatocellular	Stimulate	30390677
Carcinoma Hepatocellular	Associate	32704163
Carcinoma Neuroendocrine	Associate	26558807
Carcinoma Non Small Cell Lung	Inhibit	12209013
Cardiomyopathies	Associate	34338756
Colorectal Neoplasms	Associate	25206290
Dyslexia	Associate	23423138
Hearing Loss	Associate	33924653
Klippel Feil Syndrome	Associate	31195167, 32278351
Lung Neoplasms	Associate	12209013
Medulloblastoma	Associate	31195167
Movement Disorders	Associate	23423138
Neoplasms	Inhibit	12209013, 30390677, 31195167, 36140725
Ovarian Neoplasms	Associate	28641578
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	30575306
Small Cell Lung Carcinoma	Inhibit	12209013

MYO18B (myosin XVIIIB)