Plekha6 Gene Detail

Summary

• Symbol
  Plekha6
• Name
  pleckstrin homology domain containing A6
• Synonyms
  Pepp3

• Feature Type
  protein coding gene
• IDs
  MGI:2388662
  NCBI Gene: 240753
• Alliance
  genome feature page
• Transcription Start Sites
  15 TSS

Location &
Maps

• Sequence Map
  Chr1:133091948-133231173 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 1, 57.91 cM
• Mapping Data
  2 experiments

Strain
Comparison

• SNPs within 2kb
  2123 from dbSNP Build 142
• Strain Annotations
  19

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2388662	protein coding gene	Chr1:133089770-133231173 (+)
129S1/SvImJ	ENSMUSG00200007185	protein coding gene	Chr1:130654055-130789567 (+)
A/J	ENSMUSG00195041847	protein coding gene	Chr1:129758819-129893682 (+)
AKR/J	ENSMUSG00220046286	protein coding gene	Chr1:129591750-129733287 (+)
BALB/cJ	ENSMUSG00180030216	protein coding gene	Chr1:130307049-130441903 (+)
C3H/HeJ	ENSMUSG00175043012	protein coding gene	Chr1:130003274-130138119 (+)
C57BL/6NJ	ENSMUSG00215043053	protein coding gene	Chr1:130017157-130152009 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014596	protein coding gene	Chr1:124856477-124913507 (+)
CAST/EiJ	ENSTCUG00005032442	protein coding gene	Chr1:128927991-129063068 (+)
CBA/J	ENSMUSG00210026368	protein coding gene	Chr1:129901713-130036916 (+)
DBA/2J	ENSMUSG00185026819	protein coding gene	Chr1:134258345-134399866 (+)
FVB/NJ	ENSMUSG00205032114	protein coding gene	Chr1:129238215-129373419 (+)
JF1/MsJ	ENSUMUG00000038361	protein coding gene	Chr1:133424083-133560058 (+)
LP/J	ENSMUSG00230035294	protein coding gene	Chr1:133842089-133976923 (+)
NOD/ShiLtJ	ENSMUSG00190034537	protein coding gene	Chr1:129915947-130051143 (+)
NZO/HlLtJ	ENSMUSG00225016268	protein coding gene	Chr1:137564573-137700110 (+)
PWK/PhJ	ENSLUMG00010025269	protein coding gene	Chr1:129040474-129176111 (+)
SPRET/EiJ	ENSMSPG00010044494	protein coding gene	Chr1:131844981-131980652 (+)
WSB/EiJ	ENSIUOG00005043176	protein coding gene	Chr1:129645835-129781459 (+)

Homology

• Human Ortholog
  PLEKHA6, pleckstrin homology domain containing A6

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  PLEKHA6, pleckstrin homology domain containing A6
  
• Synonyms
  PEPP-3, PEPP3
• Links
  HGNC:17053

  NCBI Gene ID: 22874

  UniProt: Q9Y2H5

  
  
• Chr Location
  1q32.1; chr1:204218851-204378214 (-)  GRCh38

---

• MGI Vertebrate Homology
  Plekha6 stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: PLEKHA6
• Gene Tree
  Plekha6
  

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  11 phenotype references
  

• All Mutations and Alleles
  30
• Chemically induced (other)
  2
• Endonuclease-mediated
  2
• Gene trapped
  22
• Radiation induced
  1
• Targeted
  3
• Genomic Mutations
  4 involving Plekha6
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  62 strains or lines available

Gene Ontology
(GO)
Classifications

Expression

• Assay Results
  599
• Tissues
  1
• cDNA Data
  77
• Literature Summary
  2

Images

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase plekha6

Sequences &
Gene Models

• All Sequences
  132
• RefSeq
  60
• UniProt
  11
• CCDS
  CCDS15292.1, CCDS48361.1

• Ensembl
  ENSMUSG00000041757 (Evidence)
• NCBI Gene
  240753

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000041757	Ensembl Gene Model | MGI Sequence Detail	139226	C57BL/6J
transcript	ENSMUST00000038295	Ensembl | MGI Sequence Detail	7388	Not Applicable
polypeptide	ENSMUSP00000048214	Ensembl | MGI Sequence Detail	1173	Not Applicable

Protein
Information

• UniProt
  11 Sequences
• Protein Ontology
  PR:000030392 pleckstrin homology domain-containing family A member 6
  (term hierarchy)
• InterPro Domains
  IPR011993 PH-like domain superfamily
  IPR040392 PKHA4-7, PH domain
  IPR001849 Pleckstrin homology domain
  IPR057971 Pleckstrin homology domain-containing family A member 4-7, TBCA domain
  IPR001202 WW domain
  IPR036020 WW domain superfamily
• GlyGen
  Q7TQG1 4 sites, 2 N-linked glycans (2 sites)

Molecular
Reagents

• All nucleic 78

  cDNA 77

  Primer pair 1

  
  

  Microarray probesets 3

Other
Accession IDs

MGI:2138495

References

• Summaries
  All 36

  Developmental Gene Expression 2

  Phenotypes 11
• Earliest
  J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
• Latest
  J:256807 Ushiki A, et al., Long-Range Control of Renin Gene Expression in Tsukuba Hypertensive Mice. PLoS One. 2016;11(11):e0166974

TSS for Plekha6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr8784	Chr1:133091589-133091659 (+)	-324 bp
Tssr211	Chr1:133091672-133091683 (+)	-270 bp
Tssr8785	Chr1:133091712-133091777 (+)	-203 bp
Tssr8786	Chr1:133100686-133100689 (+)	8,740 bp
Tssr8787	Chr1:133109078-133109142 (+)	17,162 bp
Tssr8788	Chr1:133132415-133132447 (+)	40,483 bp
Tssr8790	Chr1:133159763-133159788 (+)	67,828 bp
Tssr8791	Chr1:133168921-133168951 (+)	76,988 bp
Tssr8792	Chr1:133168955-133168998 (+)	77,029 bp
Tssr8793	Chr1:133173626-133173643 (+)	81,687 bp
Tssr8794	Chr1:133173830-133173837 (+)	81,886 bp
Tssr8795	Chr1:133182982-133182986 (+)	91,036 bp
Tssr8796	Chr1:133183417-133183466 (+)	91,494 bp
Tssr8797	Chr1:133183820-133183837 (+)	91,881 bp
Tssr8798	Chr1:133183851-133183893 (+)	91,924 bp