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ACTL6B - actin like 6B Gene

Also Known as ACTL6; DEE76; BAF53B; EIEE76; IDDSSAD; SMARCN2; arpNalpha

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51412

About ACTL6B

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:100,643,097-100,656,448 (from NCBI)

This gene has 6 transcripts (splice variants), 123 orthologues, 26 paralogues and is associated with 6 phenotypes. Biased expression in brain (RPKM 15.4) and adrenal (RPKM 1.2).

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 feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

ACTL6B Products (1)

mRNA	Protein	Name
NM_016188.5	NP_057272.1	actin-like protein 6B

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	11726552	GOA
involved in dendrite development	IMP IMP: Inferred from mutant phenotype	31031012	GOA
involved in neuron maturation	IMP IMP: Inferred from mutant phenotype	31031012	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of SWI/SNF complex	IDA IDA: Inferred from direct assay	8804307	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10380635	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACTL6B Protein Structure

Actin

0
100
200
300
400
426 a.a.

Protein Preferred Names	Protein Names
actin-like protein 6B	53 kDa BRG1-associated factor B

Related Diseases

Diseases	Alias
Developmental And Epileptic Encephalopathy 76	DEE76 Epileptic Encephalopathy, Early Infantile, 76 Eiee76 Decam Developmental And Epileptic Encephalopathy, 76 Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, And Abnormal Myelination Developmental Delay, Epileptic Endephalopathy, Cerebral Atrophy, And Abnormal Myelination Early Infantile Epileptic Encephalopathy 76
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	IDDSSAD
Non-Specific Early-Onset Epileptic Encephalopathy	Undetermined Early-Onset Epileptic Encephalopathy Non-Specific Eoee Undetermined Eoee
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Non-Specific Syndromic Intellectual Disability	Complex Neurodevelopmental Disorder
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Clark-Baraitser Syndrome	CLABARS Baraitser Syndrome Autosomal Dominant Intellectual Disability 49 Mental Retardation, Autosomal Dominant 49, Formerly Mrd49, Formerly Intellectual Developmental Disorder, Autosomal Dominant 49 Autosomal Dominant Mental Retardation 49 Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features Mrd49 Progeria Short Stature Pigmented Nevi
Baraitser-Winter Syndrome	Fryns-Aftimos Syndrome Brws Cerebro-Frontofacial Syndrome, Type 3 Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability Trigonocephaly Ptosis Coloboma Trigonocephaly Ptosis Intellectual Disability Cerebrofrontofacial Syndrome Type 3
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Autosomal Dominant Intellectual Developmental Disorder	Autosomal Dominant Mental Retardation Autosomal Dominant Non-Syndromic Mental Retardation Autosomal Dominant Non-Syndromic Intellectual Disability Mental Retardation, Autosomal Dominant
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00221	ACTL6B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ACTL6B	RGD	RGD:1307763
Felis catus	ACTL6B	VGNC	VGNC:59546
Mus musculus	ACTL6B	MGD	MGI:1933548
Canis familiaris	ACTL6B	VGNC	VGNC:37543
Macaca mulatta	ACTL6B	VGNC	VGNC:69414
Bos taurus	ACTL6B	VGNC	VGNC:25576
Others	ACTL6B	NCBI