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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51412
Gene name Gene Name - the full gene name approved by the HGNC.	Actin like 6B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ACTL6B
Synonyms (NCBI Gene) Gene synonyms aliases	ACTL6, BAF53B, DEE76, EIEE76, IDDSSAD, SMARCN2, arpNalpha
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DEE76, IDDSSAD
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feat

Show/Hide all(15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141640000	G>A,C	Likely-pathogenic	Synonymous variant, non coding transcript variant, stop gained, coding sequence variant
rs755138493	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, synonymous variant
rs757603505	C>T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs772520618	AAG>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs779550102	G>-,GG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs955171017	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1060499738	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1131692228	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1562848142	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562848425	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562848556	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562848568	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562848909	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1584468817	C>T	Likely-pathogenic	Splice donor variant
rs1584468891	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant

Show/Hide all(8)

miRTarBase ID	miRNA	Experiments
MIRT763997	hsa-miR-1912	CLIP-seq
MIRT763998	hsa-miR-494	CLIP-seq
MIRT763999	hsa-miR-499-3p	CLIP-seq
MIRT764000	hsa-miR-499a-3p	CLIP-seq
MIRT2443093	hsa-miR-3153	CLIP-seq
MIRT2443094	hsa-miR-3173-3p	CLIP-seq
MIRT2443095	hsa-miR-4779	CLIP-seq
MIRT2443096	hsa-miR-765	CLIP-seq

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003682	Function	Chromatin binding	IBA	21873635
GO:0003713	Function	Transcription coactivator activity	NAS	8804307
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	10380635
GO:0005634	Component	Nucleus	IDA	10380635
GO:0006325	Process	Chromatin organization	NAS	10380635
GO:0006338	Process	Chromatin remodeling	IDA	11726552
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	8804307
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007399	Process	Nervous system development	IBA	21873635
GO:0016358	Process	Dendrite development	IMP	31031012
GO:0016514	Component	SWI/SNF complex	IBA	21873635
GO:0016514	Component	SWI/SNF complex	IDA	8804307
GO:0016514	Component	SWI/SNF complex	ISS
GO:0021510	Process	Spinal cord development	IEA
GO:0035267	Component	NuA4 histone acetyltransferase complex	IBA	21873635
GO:0042551	Process	Neuron maturation	IMP	31031012
GO:0043044	Process	ATP-dependent chromatin remodeling	IBA	21873635
GO:0043967	Process	Histone H4 acetylation	IBA	21873635
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IEA
GO:0071565	Component	NBAF complex	ISS

MIM	HGNC	e!Ensembl
612458	160	ENSG00000077080

Protein

UniProt ID

O94805

Protein name

Actin-like protein 6B (53 kDa BRG1-associated factor B) (Actin-related protein Baf53b) (ArpNalpha) (BRG1-associated factor 53B) (BAF53B)

Protein function

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromati

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00022	Actin	8 → 426	Actin	Family

Sequence

MSGGVYGGDEVGALVFDIGSFSVRAGYAGEDCPKADFPTTVGLLAAEEGGGLELEGDKEK
KGKIFHIDTNALHVPRDGAEVMSPLKNGMIEDWECFRAILDHTYSKHVKSEPNLHPVLMS
EAPWNTRAKREKLTELMFEQYNIPAFFLCKTAVLTAFANGRSTGLVLDSGATHTTAIPVH
DGYVLQQGIVKSPLAGDFISMQCRELFQEMAIDIIPPYMIAAKEPVREGAPPNWKKKEKL
PQVSKSWHNYMCNEVIQDFQASVLQVSDSPYDEQVAAQMPTVHYEMPNGYNTDYGAERLR
IPEGLFDPSNVKGLSGNTMLGVGHVVTTSIGMCDIDIRPGLYGSVIVTGGNTLLQGFTDR
LNRELSQKTPPSMRLKLIASNSTMERKFSPWIGGSILASLGTFQQMWISKQEYEEGGKQC
VERKCP

Sequence length

426

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma		RMTs methylate histone arginines RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

Show/Hide Causal Diseases (9)

Disease term	Disease name	dbSNP ID	References
Causal
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)	31134736, 30237576
Developmental regression	Developmental regression	rs1224421127
Epileptic encephalopathy	Encephalopathies, Epileptic encephalopathy	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)	30237576
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	30237576
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Ptosis	Blepharoptosis, Ptosis	ClinVar
Alzheimer disease	Alzheimer disease	GWAS

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining
Agenesis of Corpus Callosum	Associate	39275948
Atrophy	Associate	33141462, 39275948
Autistic Disorder	Associate	39275948
Brain Diseases	Associate	33141462, 39275948
Cerebral Hemorrhage	Associate	39275948
Charcot Marie Tooth disease Type 1D	Associate	39275948
Developmental Disabilities	Associate	31031012, 31036916, 33141462, 39275948
Diastema	Associate	31031012
Dystonia	Associate	39275948
Epilepsy	Associate	31031012, 33141462
Esophageal Squamous Cell Carcinoma	Associate	26812616
Facial Dysmorphism with Multiple Malformations	Associate	31031012
Gait Disorders Neurologic	Associate	31031012
Genetic Diseases Inborn	Associate	39275948
Hereditary Central Nervous System Demyelinating Diseases	Associate	33141462
Infantile Epileptic Dyskinetic Encephalopathy	Associate	33141462
Intellectual Disability	Associate	31031012, 31036916, 39275948
Kidney Diseases	Associate	31912158
Language Disorders	Associate	31031012
Mouth Diseases	Associate	31031012
Muscle Hypotonia	Associate	31031012
Muscle Spasticity	Associate	31031012
Nerve Degeneration	Associate	33141462
Neurologic Manifestations	Associate	31031012
Nose Diseases	Associate	31031012
Rett Syndrome	Associate	31031012
Rhabdoid Tumor	Associate	31912158
Seizures	Associate	39275948
Speech Disorders	Associate	39275948
Thakker Donnai syndrome	Associate	39275948

ACTL6B (actin like 6B)