2. Gene
  3. ACTL6B - actin like 6B Gene

ACTL6B - actin like 6B Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 51412 | Gene type: protein coding

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 Reference 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 Reference 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

Actin: Actin (8 - 425)

  • 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00221 ACTL6B Human Pre-designed siRNA Set A Pre-designed Sets / 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