Details for: ACTL6B

Gene ID: 51412

Symbol: ACTL6B

Ensembl ID: ENSG00000077080

Description: actin like 6B

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 3.7522
    Cell Significance Index: 230.0500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 2.4600
    Cell Significance Index: 53.3000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.9534
    Cell Significance Index: 62.5700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.3782
    Cell Significance Index: 62.4700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 1.2097
    Cell Significance Index: 18.2300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.2043
    Cell Significance Index: 26.3700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.1951
    Cell Significance Index: 239.7400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.0595
    Cell Significance Index: 201.6400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6820
    Cell Significance Index: 67.4600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6802
    Cell Significance Index: 470.4600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.5967
    Cell Significance Index: 14.3100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5958
    Cell Significance Index: 537.9800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.5657
    Cell Significance Index: 34.7700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5414
    Cell Significance Index: 194.2100
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.4652
    Cell Significance Index: 5.7700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.3964
    Cell Significance Index: 15.0100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.3959
    Cell Significance Index: 17.5100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3530
    Cell Significance Index: 57.4100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.3067
    Cell Significance Index: 20.6200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2909
    Cell Significance Index: 31.6400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.1570
    Cell Significance Index: 4.4800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0951
    Cell Significance Index: 5.7100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0920
    Cell Significance Index: 4.8300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0808
    Cell Significance Index: 1.7200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0730
    Cell Significance Index: 5.0500
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0557
    Cell Significance Index: 0.4600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0449
    Cell Significance Index: 0.7700
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.0347
    Cell Significance Index: 0.8400
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0118
    Cell Significance Index: 0.2900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0062
    Cell Significance Index: -11.5200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0065
    Cell Significance Index: -0.2300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0074
    Cell Significance Index: -11.3500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0094
    Cell Significance Index: -17.7900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0094
    Cell Significance Index: -12.7900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0149
    Cell Significance Index: -0.4300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0159
    Cell Significance Index: -11.8000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0204
    Cell Significance Index: -11.4900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0321
    Cell Significance Index: -20.3900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0339
    Cell Significance Index: -21.1500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0340
    Cell Significance Index: -0.9500
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0351
    Cell Significance Index: -0.4100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0381
    Cell Significance Index: -17.3100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0538
    Cell Significance Index: -15.4900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0708
    Cell Significance Index: -0.4800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0722
    Cell Significance Index: -14.3200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0752
    Cell Significance Index: -15.8400
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0878
    Cell Significance Index: -1.1500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0978
    Cell Significance Index: -16.7000
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.0998
    Cell Significance Index: -0.9500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1006
    Cell Significance Index: -18.1300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1014
    Cell Significance Index: -13.9200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1070
    Cell Significance Index: -2.2700
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.1098
    Cell Significance Index: -0.9500
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.1212
    Cell Significance Index: -1.3200
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1350
    Cell Significance Index: -1.2800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1354
    Cell Significance Index: -19.6800
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: -0.1508
    Cell Significance Index: -1.2000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1517
    Cell Significance Index: -4.8300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1533
    Cell Significance Index: -17.5600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1557
    Cell Significance Index: -19.1500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1557
    Cell Significance Index: -3.2300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1582
    Cell Significance Index: -5.1800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1705
    Cell Significance Index: -19.8700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1831
    Cell Significance Index: -3.6200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1878
    Cell Significance Index: -3.7700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1936
    Cell Significance Index: -20.1600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2067
    Cell Significance Index: -13.0300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2171
    Cell Significance Index: -22.1800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2259
    Cell Significance Index: -4.8800
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.2290
    Cell Significance Index: -1.4900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2408
    Cell Significance Index: -6.0200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2425
    Cell Significance Index: -6.6000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2494
    Cell Significance Index: -6.4100
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: -0.2555
    Cell Significance Index: -0.5900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2733
    Cell Significance Index: -20.9700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2829
    Cell Significance Index: -9.9100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2999
    Cell Significance Index: -16.8300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3135
    Cell Significance Index: -7.8200
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.3170
    Cell Significance Index: -1.6600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.3252
    Cell Significance Index: -4.8000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3351
    Cell Significance Index: -17.4100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3389
    Cell Significance Index: -15.8000
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.3483
    Cell Significance Index: -4.4000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3554
    Cell Significance Index: -7.4400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.3710
    Cell Significance Index: -6.2500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3902
    Cell Significance Index: -18.3400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3931
    Cell Significance Index: -14.4300
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.4042
    Cell Significance Index: -5.0400
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.4168
    Cell Significance Index: -5.5600
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.4269
    Cell Significance Index: -8.9100
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.4316
    Cell Significance Index: -13.6500
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.4613
    Cell Significance Index: -1.0400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.4905
    Cell Significance Index: -7.0300
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.5142
    Cell Significance Index: -6.4900
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.5319
    Cell Significance Index: -7.0900
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.5357
    Cell Significance Index: -13.3800
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.5487
    Cell Significance Index: -3.8100
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.5523
    Cell Significance Index: -7.5100
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.5772
    Cell Significance Index: -11.3600
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.6029
    Cell Significance Index: -14.7100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Structural Component of the Cytoskeleton:** ACTL6B is a structural component of the cytoskeleton, which provides mechanical support and shape to cells. 2. **Member of the SWI/SNF Complex:** ACTL6B is a member of the SWI/SNF complex, a chromatin-remodeling complex that regulates gene expression by modifying chromatin structure. 3. **Transcriptional Regulation by Runx1:** ACTL6B acts as a transcriptional coactivator for Runx1, a transcription factor that regulates cell differentiation and proliferation in various cell types. 4. **High Expression in Intestinal Cells:** ACTL6B is highly expressed in intestinal cells, including Paneth cells, intestinal tuft cells, and enterocytes. **Pathways and Functions:** 1. **Chromatin Remodeling:** ACTL6B is involved in chromatin remodeling, which is a crucial process for regulating gene expression. 2. **Transcriptional Regulation:** ACTL6B regulates transcription by interacting with transcription factors, such as Runx1, to control gene expression. 3. **Cell Differentiation:** ACTL6B plays a role in cell differentiation, particularly in the context of intestinal cell development. 4. **Cell Proliferation:** ACTL6B is involved in cell proliferation, regulating the transition from G0 to G1 phase of the cell cycle. **Clinical Significance:** 1. **Intestinal Disorders:** ACTL6B is highly expressed in intestinal cells, and alterations in its expression have been linked to intestinal disorders, such as inflammatory bowel disease (IBD). 2. **Neurological Disorders:** ACTL6B is also expressed in neurons, and its dysregulation has been implicated in neurological disorders, such as autism spectrum disorder (ASD) and schizophrenia. 3. **Cancer:** ACTL6B has been identified as a potential oncogene, and its overexpression has been linked to cancer development and progression. 4. **Immunological Disorders:** ACTL6B has been implicated in immunological disorders, such as autoimmune diseases, and its dysregulation may contribute to the development of these conditions. In conclusion, ACTL6B is a multifunctional protein that plays a crucial role in various cellular processes, including chromatin remodeling, transcriptional regulation, cell differentiation, and cell proliferation. Its dysregulation has been linked to various diseases, including intestinal disorders, neurological disorders, cancer, and immunological disorders. Further research is needed to fully understand the role of ACTL6B in human disease and to explore its potential as a therapeutic target.

Genular Protein ID: 1023949100

Symbol: ACL6B_HUMAN

Name: 53 kDa BRG1-associated factor B

UniProtKB Accession Codes:

O94805 A4D2D0 O75421

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 21 DNASU 1 DisGeNET 1 ELM 1 EMBL 8 Ensembl 1 ExpressionAtlas 1 GO 31 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9799793

Title: Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes.

PubMed ID: 9799793

DOI: 10.1101/gr.8.10.1060

PubMed ID: 10380635

Title: Two isoforms of a human actin-related protein show nuclear localization and mutually selective expression between brain and other tissues.

PubMed ID: 10380635

DOI: 10.1271/bbb.63.917

PubMed ID: 12368262

Title: Identification of a polymorphic, neuron-specific chromatin remodeling complex.

PubMed ID: 12368262

DOI: 10.1101/gad.992102

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 22952240

Title: SWI/SNF chromatin-remodeling factors: multiscale analyses and diverse functions.

PubMed ID: 22952240

DOI: 10.1074/jbc.r111.309302

PubMed ID: 26601204

Title: Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomics.

PubMed ID: 26601204

DOI: 10.1126/sciadv.1500447

PubMed ID: 31031012

Title: Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

PubMed ID: 31031012

DOI: 10.1016/j.ajhg.2019.03.022

PubMed ID: 30237576

Title: Autozygome and high throughput confirmation of disease genes candidacy.

PubMed ID: 30237576

DOI: 10.1038/s41436-018-0138-x

PubMed ID: 30656450

Title: Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.

PubMed ID: 30656450

DOI: 10.1007/s00439-019-01972-3

Sequence Information:

  • Length: 426
  • Mass: 46877
  • Checksum: 6E9CEBABB8C81E64
  • Sequence:
    • MSGGVYGGDE VGALVFDIGS FSVRAGYAGE DCPKADFPTT VGLLAAEEGG GLELEGDKEK 
KGKIFHIDTN ALHVPRDGAE VMSPLKNGMI EDWECFRAIL DHTYSKHVKS EPNLHPVLMS 
EAPWNTRAKR EKLTELMFEQ YNIPAFFLCK TAVLTAFANG RSTGLVLDSG ATHTTAIPVH 
DGYVLQQGIV KSPLAGDFIS MQCRELFQEM AIDIIPPYMI AAKEPVREGA PPNWKKKEKL 
PQVSKSWHNY MCNEVIQDFQ ASVLQVSDSP YDEQVAAQMP TVHYEMPNGY NTDYGAERLR 
IPEGLFDPSN VKGLSGNTML GVGHVVTTSI GMCDIDIRPG LYGSVIVTGG NTLLQGFTDR 
LNRELSQKTP PSMRLKLIAS NSTMERKFSP WIGGSILASL GTFQQMWISK QEYEEGGKQC 
VERKCP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.