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Aliases for ACTL7B Gene

Aliases for ACTL7B Gene

  • Actin Like 7B 2 3 5
  • Testis Tissue Sperm-Binding Protein Li 43a 3
  • Actin-Like Protein 7B 3
  • Actin-Like 7-Beta 3
  • Actin-Like-7-Beta 4
  • Tact1 3

External Ids for ACTL7B Gene

Previous GeneCards Identifiers for ACTL7B Gene

  • GC09M102415
  • GC09M103349
  • GC09M105074
  • GC09M106996
  • GC09M108696
  • GC09M110657
  • GC09M111616
  • GC09M081216

Summaries for ACTL7B Gene

Entrez Gene Summary for ACTL7B 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 feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACTL7B Gene

ACTL7B (Actin Like 7B) is a Protein Coding gene. Diseases associated with ACTL7B include Dysautonomia and Neuropathy, Hereditary Sensory And Autonomic, Type Iii. Gene Ontology (GO) annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is ACTL7A.

Additional gene information for ACTL7B Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTL7B Gene

Genomics for ACTL7B Gene

GeneHancer (GH) Regulatory Elements for ACTL7B Gene

Promoters and enhancers for ACTL7B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J108883 Enhancer 1 ENCODE 11.7 -29.5 -29452 8.1 FOXA2 SMAD1 MLX ARID4B DMAP1 YY1 SLC30A9 PAF1 SP5 JUNB CTNNAL1 ELP1 FRRS1L ACTL7A ACTL7B FAM206A EPB41L4B TMEM245 RPL31P43
GH09J108834 Enhancer 0.6 ENCODE 13 +20.1 20068 4.6 USF1 TEAD1 HLF TAL1 MAX CEBPB MNT GABPA FOSL1 CEBPA LOC100288416 ACTL7B ACTL7A
GH09J109064 Enhancer 0.6 ENCODE 9.7 -208.3 -208338 2.1 JUN MAX CEBPB EP300 SP1 GATA3 MAFF JUND POLR2A STAT3 FRRS1L ELP1 ENSG00000199331 TMEM245 CTNNAL1 ACTL7B GC09M109081 MIR32
GH09J108831 Enhancer 0.4 ENCODE 13 +25.0 24964 0.8 GATA3 PRDM10 ACTL7B ACTL7A LOC100288416 RPL36AP35
GH09J108971 Enhancer 0.2 ENCODE 10.1 -116.4 -116355 2.9 CTNNAL1 ACTL7B EPB41L4B LOC105376216 ELP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACTL7B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACTL7B gene promoter:
  • Nkx2-5
  • HEN1
  • HNF-1A
  • HNF-1
  • E2F-1
  • E2F
  • ATF-2
  • CRE-BP1
  • HNF-4alpha1
  • HNF-4alpha2

Genomic Locations for ACTL7B Gene

Genomic Locations for ACTL7B Gene
2,380 bases
Minus strand
2,372 bases
Minus strand

Genomic View for ACTL7B Gene

Genes around ACTL7B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTL7B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTL7B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTL7B Gene

Proteins for ACTL7B Gene

  • Protein details for ACTL7B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Actin-like protein 7B
    Protein Accession:
    Secondary Accessions:
    • B2R9Q2
    • Q5JSV1

    Protein attributes for ACTL7B Gene

    415 amino acids
    Molecular mass:
    45234 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ACTL7B Gene

Post-translational modifications for ACTL7B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTL7B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACTL7B Gene

Domains & Families for ACTL7B Gene

Gene Families for ACTL7B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ACTL7B Gene


Suggested Antigen Peptide Sequences for ACTL7B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the actin family.
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTL7B: view

Function for ACTL7B Gene

Molecular function for ACTL7B Gene

GENATLAS Biochemistry:
actin-like 7B,located in a "head to head" orientation with ACTL7A from the HSAN3 region,only detected in testis and to a lasser extent in prostate,mouse A2p7b ortholog,ARP actin-related proteins superfamily

Phenotypes From GWAS Catalog for ACTL7B Gene

Gene Ontology (GO) - Molecular Function for ACTL7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 10373328
genes like me logo Genes that share ontologies with ACTL7B: view
genes like me logo Genes that share phenotypes with ACTL7B: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ACTL7B Gene

Localization for ACTL7B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTL7B Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACTL7B gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ACTL7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0015629 actin cytoskeleton TAS 10373328
genes like me logo Genes that share ontologies with ACTL7B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACTL7B Gene

Pathways & Interactions for ACTL7B Gene

SuperPathways for ACTL7B Gene

No Data Available

Gene Ontology (GO) - Biological Process for ACTL7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with ACTL7B: view

No data available for Pathways by source and SIGNOR curated interactions for ACTL7B Gene

Drugs & Compounds for ACTL7B Gene

No Compound Related Data Available

Transcripts for ACTL7B Gene

mRNA/cDNA for ACTL7B Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(50) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACTL7B Gene

Actin-like 7B:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACTL7B Gene

No ASD Table

Relevant External Links for ACTL7B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ACTL7B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACTL7B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACTL7B Gene

This gene is overexpressed in Testis (x52.4).

Protein differential expression in normal tissues from HIPED for ACTL7B Gene

This gene is overexpressed in Testis (44.2) and Ovary (24.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACTL7B Gene

Protein tissue co-expression partners for ACTL7B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACTL7B Gene:


SOURCE GeneReport for Unigene cluster for ACTL7B Gene:


mRNA Expression by UniProt/SwissProt for ACTL7B Gene:

Tissue specificity: Detected only in the testis and, to a lesser extent, in the prostate.

Evidence on tissue expression from TISSUES for ACTL7B Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ACTL7B: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTL7B Gene

Orthologs for ACTL7B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACTL7B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ACTL7B 34 33
  • 99.04 (n)
(Bos Taurus)
Mammalia ACTL7B 34 33
  • 89.64 (n)
(Rattus norvegicus)
Mammalia Actl7b 33
  • 85.83 (n)
(Mus musculus)
Mammalia Actl7b 16 34 33
  • 85.02 (n)
(Canis familiaris)
Mammalia ACTL7B 34 33
  • 82.6 (n)
(Monodelphis domestica)
Mammalia ACTL7B 34
  • 80 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19566 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARP2 34
  • 32 (a)
Species where no ortholog for ACTL7B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ACTL7B Gene

Gene Tree for ACTL7B (if available)
Gene Tree for ACTL7B (if available)
Evolutionary constrained regions (ECRs) for ACTL7B: view image

Paralogs for ACTL7B Gene

(23) SIMAP similar genes for ACTL7B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ACTL7B: view

Variants for ACTL7B Gene

Sequence variations from dbSNP and Humsavar for ACTL7B Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000009263 -- 108,857,494(-) C/A upstream_transcript_variant
rs1000082473 -- 108,857,212(-) T/C upstream_transcript_variant
rs1001023788 -- 108,856,035(-) T/G upstream_transcript_variant
rs1002664862 -- 108,855,300(-) C/T coding_sequence_variant, missense_variant
rs1002941755 -- 108,857,077(-) T/C upstream_transcript_variant

Variation tolerance for ACTL7B Gene

Residual Variation Intolerance Score: 11.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.43; 71.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACTL7B Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ACTL7B Gene

Disorders for ACTL7B Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACTL7B Gene - From: HGMD, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ACTL7B

genes like me logo Genes that share disorders with ACTL7B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACTL7B Gene

Publications for ACTL7B Gene

  1. Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31. (PMID: 10373328) Chadwick BP … Slaugenhaupt SA (Genomics 1999) 2 3 4 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Methylation of CpG dinucleotides in the open reading frame of a testicular germ cell-specific intronless gene, Tact1/Actl7b, represses its expression in somatic cells. (PMID: 12907721) Hisano M … Nozaki M (Nucleic acids research 2003) 2 3 58

Products for ACTL7B Gene

Sources for ACTL7B Gene

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