ACTL6B (actin like 6B)

Gene

• Entrez ID: 51412
• Gene name: Actin like 6B
• Gene symbol: ACTL6B
• Synonyms (NCBI Gene): ACTL6, BAF53B, DEE76, EIEE76, IDDSSAD, SMARCN2, arpNalpha
• Chromosome: 7
• Chromosome location: 7q22.1
• Summary: 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000776	Component	Kinetochore	NAS	11078522
GO:0000785	Component	Chromatin	NAS	12192000, 29374058
GO:0003682	Function	Chromatin binding	IBA
GO:0003713	Function	Transcription coactivator activity	NAS	8804307
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	10380635
GO:0005634	Component	Nucleus	IDA	10380635
GO:0005634	Component	Nucleus	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006325	Process	Chromatin organization	NAS	10380635
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IDA	11726552
GO:0006338	Process	Chromatin remodeling	NAS	10078207, 29374058
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	8804307, 11263494, 17920018, 18809673, 29374058
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	NAS	29374058
GO:0016358	Process	Dendrite development	IMP	31031012
GO:0016363	Component	Nuclear matrix	NAS	9128241
GO:0016514	Component	SWI/SNF complex	IBA
GO:0016514	Component	SWI/SNF complex	IDA	8804307
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016514	Component	SWI/SNF complex	ISS
GO:0016514	Component	SWI/SNF complex	NAS	8804307
GO:0016586	Component	RSC-type complex	NAS	8804307
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	23698369, 25066234
GO:0035060	Component	Brahma complex	NAS	8804307
GO:0035267	Component	NuA4 histone acetyltransferase complex	IBA
GO:0042551	Process	Neuron maturation	IMP	31031012
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
GO:0045596	Process	Negative regulation of cell differentiation	NAS	30510198
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11790558, 12368262
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	11175787, 15985610
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0071565	Component	NBAF complex	IEA
GO:0071565	Component	NBAF complex	ISS
GO:0071565	Component	NBAF complex	NAS	17920018
GO:0140092	Component	BBAF complex	NAS	12368262
GO:0140288	Component	GBAF complex	NAS	29374058
GO:1902459	Process	Positive regulation of stem cell population maintenance	NAS	30510198
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	NAS	10778858
GO:2000781	Process	Positive regulation of double-strand break repair	NAS	16932743, 25066234
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

Other IDs

• MIM: 612458
• HGNC: 160
• e!Ensembl: 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

Pathways

KEGG:

ATP-dependent chromatin remodeling
Thermogenesis
Hepatocellular carcinoma

Reactome:

RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ACTL6B-related BAFopathy	Likely pathogenic; Pathogenic	rs1304756557, rs1131692228	RCV001533054 RCV001533053	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ACTL6B-related disorder	Likely pathogenic	rs1562848556	RCV004754580	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ACTL6B-related dominant intellectual disability	Likely pathogenic; Pathogenic	rs1131692228	RCV001028074	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ACTL6B-related neurodevelopmental disorder	Likely pathogenic	rs1562846694	RCV000782175	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ACTL6B-related recessive epilepsy	Likely pathogenic; Pathogenic	rs955171017, rs998928845, rs1562848568, rs1562848909, rs141640000, rs1562848556, rs1584468891, rs929755522, rs1584466163, rs1584468817	RCV001028087 RCV001028079 RCV001028088 RCV001028089 RCV001028082 RCV001028083 RCV001028081 RCV001028086 RCV001028084 RCV001028085	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autism	Likely pathogenic; Pathogenic	rs1131692228	RCV001028074	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Pathogenic	rs986702153, rs2131335751, rs2131333638, rs2131334872, rs2131335747, rs746964903	RCV001849716 RCV001849717 RCV001849718 RCV001849719 RCV001849720 RCV001849721	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 76	Likely pathogenic; Pathogenic	rs774562545, rs2486170638, rs2486172358, rs2486158174, rs2486158097, rs2486158089, rs1562847909, rs766897181, rs1373783639, rs2486172329, rs2486170751, rs2131334898, rs2486160760, rs779550102, rs1060499738, rs1562848142, rs1562848425, rs955171017, rs998928845, rs1562848568, rs1562848909, rs141640000, rs1562848556, rs1584468891, rs929755522, rs755138493	RCV002227742 RCV003140463 RCV003331526 RCV003331527 RCV003331528 RCV003331529 RCV003331530 RCV003331531 RCV003331532 RCV003331533 RCV003331534 RCV003331536 RCV003331537 RCV003331538 RCV000785966 RCV000785967 RCV000785968 RCV000785969 RCV000785970 RCV000785972 RCV000785973 RCV000853485 RCV000853486 RCV000853482 RCV000853481 RCV001027972	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Likely pathogenic	rs1060499738	RCV000454131	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder with severe speech and ambulation defects	Likely pathogenic; Pathogenic	rs2131334839, rs1131692228, rs2486163472, rs1264977781, rs929755522	RCV002278851 RCV002283907 RCV002288376 RCV003992076 RCV000785974 RCV004768716	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1060499738, rs1131692228	RCV000454131 RCV001526602	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	39275948	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	33141462, 39275948	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	39275948	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	33141462, 39275948	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG	31134736		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	30656450		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	39275948	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	30656450		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31031012, 31036916, 33141462, 39275948	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	39275948	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31031012, 33141462	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	30237576		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	30656450		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26812616	Associate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	31031012	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	CLINVAR_DG	31134736		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized limb muscle atrophy	Limb Muscle Atrophy	CLINVAR_DG	31134736		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	30237576		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	BEFREE	31134736		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG	31134736		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG	31134736		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30237576		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	31031012, 31036916, 39275948	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	31036916		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Diseases	Kidney disease	Pubtator	31912158	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	31031012	Associate	★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	CLINVAR_DG	31134736		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	31031012	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30656450, 31036916, 31134736		★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-specific syndromic intellectual disability	Syndromic Mental Retardation	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	31031012	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	31912158	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	39275948	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG	31134736		★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only