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Actl7a Gene Detail
Summary
  • Symbol
    Actl7a
  • Name
    actin-like 7a
  • Synonyms
    Tact2, t-actin 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1343051
    NCBI Gene: 11470
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:56743422-56744925 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 31.66 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    122 from dbSNP Build 142
  • Strain Annotations
    17
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1343051
 protein coding gene Chr4:56743413-56744925 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028309
 protein coding gene Chr4:55503394-55504906 (+)
A/J MGP_AJ_G0028270
 protein coding gene Chr4:53383202-53384714 (+)
AKR/J MGP_AKRJ_G0028219
 protein coding gene Chr4:54855369-54856881 (+)
BALB/cJ MGP_BALBcJ_G0028289
 protein coding gene Chr4:53539363-53540875 (+)
C3H/HeJ MGP_C3HHeJ_G0028010
 protein coding gene Chr4:55365538-55367050 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028730
 protein coding gene Chr4:57481920-57483432 (+)
CAROLI/EiJ no annotation
CAST/EiJ MGP_CASTEiJ_G0027448
 protein coding gene Chr4:55069694-55071206 (+)
CBA/J MGP_CBAJ_G0027975
 protein coding gene Chr4:59466380-59467892 (+)
DBA/2J MGP_DBA2J_G0028125
 protein coding gene Chr4:53290794-53292306 (+)
FVB/NJ MGP_FVBNJ_G0028092
 protein coding gene Chr4:52500751-52502263 (+)
LP/J MGP_LPJ_G0028224
 protein coding gene Chr4:55604732-55606244 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028116
 protein coding gene Chr4:62633455-62634967 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028766
 protein coding gene Chr4:55035045-55036557 (+)
PWK/PhJ MGP_PWKPhJ_G0027173
 protein coding gene Chr4:53270979-53272491 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027001
 protein coding gene Chr4:54315391-54316903 (+)
WSB/EiJ MGP_WSBEiJ_G0027526
 protein coding gene Chr4:54987134-54988646 (+)



Homology
more
  • Human Ortholog
    ACTL7A, actin like 7A
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ACTL7A, actin like 7A
  • Synonyms
    SPGF86
  • Links
    NCBI Gene ID: 10881
    neXtProt AC: NX_Q9Y615
    UniProt: Q9Y615

  • Chr Location
    9q31.3; chr9:108862266-108863756 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human ACTL7A associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    3 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mcie homozygous for a null allele exhibit male infertility associated with acrosomal ultrastructural defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    21
  • GO References
    14
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11470 NCBI Gene Model | MGI Sequence Detail 1504 C57BL/6J ±  kb
    transcript NM_009611 RefSeq | MGI Sequence Detail 1513 Not Specified  
    polypeptide Q9QY84 UniProt | EBI | MGI Sequence Detail 440 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      cDNA 16
      Primer pair 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 34
      Gene Ontology 14
      Phenotypes 3
    • Earliest
      J:56030 Chadwick BP, et al., 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. Genomics. 1999 Jun 15;58(3):302-9
    • Latest
      J:347872 Jin HJ, et al., Disruption in CYLC1 leads to acrosome detachment, sperm head deformity, and male in/subfertility in humans and mice. Elife. 2024 Apr 4;13
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory