Imagem 1

Example: RPL12P6, GAPDH, ENSG00000237984

Summary

Retrocopy Name PHKBP2
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Plot displaying the genomic locations of a retrocopy (in chr14) and its respective parental gene (in chr16). Each line represents a retrocopy.
Species Homo sapiens
Coordinates (hg38) chr14:36533626-36533816  UCSC
Coordinates (T2T) chr14:30722909-30723099  UCSC
Coordinates (hg19) chr14:37002831-37003021  UCSC
Strand -
Parental Sequence NM_000293.3
Parental seq. overlap 157 bp
Parental seq. overlap (%) 2.9%
Genomic Region Intergenic
Retrocopy Summary PHKBP2, located on chr14:36533626-36533816, is a retrocopy of the parental gene PHKB. Retrocopies of protein-coding genes, also known as processed pseudogenes, are intriguing genomic elements with implications in genome evolution and diseases. While some retrocopies are non-functional, there are examples of retrocopies (retrogenes) acquiring regulatory roles or exhibiting neofunctionalization unrelated to their parental genes.

Parental Gene

Gene Name PHKB
Full Name phosphorylase kinase regulatory subunit beta
Also known as -
Coordinate chr16:47461299-47701523
Strand +
Gene summary Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]

Homology

Species Scientific Name Retrocopy
Chimpanzee Pan troglodytes PHKBP1
Bonobo Pan paniscus PHKBP1
Gibbon Nomascus leucogenys PHKBP1
Green monkey Chlorocebus sabaeus PHKBP1
Crab-eating macaque Macaca fascicularis PHKBP1
Baboon Papio anubis PHKBP1
Golden snub-nosed monkey Rhinopithecus roxellana PHKBP1
Dolphin Tursiops truncatus PHKBP1
Dog Canis familiaris PHKBP1
Panda Ailuropoda melanoleuca PHKBP1
Gorilla Gorilla gorilla Without Homology
Orangutan Pongo abelii Without Homology
Rhesus Macaca mulatta Without Homology
Marmoset Callithrix jacchus Without Homology
Mouse lemur Microcebus murinus Without Homology
Mouse Mus musculus Without Homology
Rat Rattus norvegicus Without Homology
Chinese hamster Cricetulus griseus Without Homology
Rabbit Oryctolagus cuniculus Without Homology
Pig Sus scrofa Without Homology
Cow Bos taurus Without Homology
Sheep Ovis aries Without Homology
Horse Equus caballus Without Homology
Cat Felis catus Without Homology
Pale spear-nosed bat Phyllostomus discolor Without Homology
Velvety free-tailed bat Molossus molossus Without Homology
Greater mouse-eared bat Myotis myotis Without Homology
Kuhl's pipistrelle Pipistrellus kuhlii Without Homology
Greater horseshoe bat Rhinolophus ferrumequinum Without Homology
Egyptian rousette Rousettus aegyptiacus Without Homology
Sloth Choloepus didactylus Without Homology
Tasmanian Devil Sarcophilus harrisii Without Homology
Opossum Monodelphis domestica Without Homology
Platypus Ornithorhynchus anatinus Without Homology
Chicken Gallus gallus Without Homology
Turkey Meleagris gallopavo Without Homology
Zebra Finch Taeniopygia guttata Without Homology
Budgerigar Melopsittacus undulatus Without Homology
Painted Turtle Chrysemys picta Without Homology
Lizard Anolis Carolinensis Without Homology
Frog Xenopus tropicalis Without Homology
Zebrafish Danio rerio Without Homology
Drosophila Drosophila melanogaster Without Homology

Expression

The Genotype-Tissue Expression project - (GTEx)

Adipose SubcutaneousMuscle SkeletalArtery TibialArtery CoronaryHeart Atrial AppendageAdipose VisceralUterusVaginaBreast Mammary TissueSkin Not Sun ExposedMinor Salivary GlandBrain CortexAdrenal GlandThyroidLungSpleenPancreasEsophagus MuscularisEsophagus MucosaEsophagus Gastroesophageal JunctionStomachColon SigmoidSmall Intestine Terminal IleumColon TransverseProstateTestisNerve TibialSkin Sun ExposedHeart Left VentricleBrain CerebellumWhole BloodArtery AortaPituitaryBrain Frontal CortexBrain CaudateBrain Nucleus AccumbensBrain PutamenBrain HypothalamusBrain Spinal CordBrain HippocampusBrain Anterior Cingulate CortexOvaryBrain Cerebellar HemisphereLiverBrain Substantia NigraKidney CortexBrain AmygdalaCervix EctocervixFallopian TubeCervix EndocervixBladderKidney Medulla00.10.20.30.4
log10(TPM+1)

Related Sequence

>PHKBP2
TACAGACAGATCGCTGTGGAGTTACTAATGGTTATATCCGTTATACTGAAAACAAAATTCTTAGTTGGACTTTCAAGACAAAAAGTAGATCTAGACAAACTGATGAAAGAAGCATTTCATGAATTTCAAAAATATGAGATTCAACTAAAGGAAGCTGAAAAACAAGGTGAGATGACTTACTTTAACAACAG
>NM_000293.3
aaggcggcgaccggagcgcgatggcgggggcggcggGACTCACGGCAGAAGTGAGCTGGAAGGTCTTGGAGCGAAGAGCTCGGACCAAGCGCTCAGGCTCAGTTTATGAACCTCTTAAAAGCATTAATCTTCCAAGACCTGATAATGAAACTCTCTGGGATAAGTTGGACCATTATTACAGAATTGTCAAGTCAACATTGCTGCTGTATCAAAGTCCAACTACCGGTCTCTTTCCCACTAAAACATGCGGTGGTGACCAGAAGGCCAAGATCCAGGACAGCCTATACTGCGCTGCTGGGGCCTGGGCTTTGGCTCTTGCATACAGGCGAATTGATGATGACAAGGGAAGGACCCATGAGCTGGAGCACTCAGCTATAAAATGCATGAGAGGAATTCTCTACTGCTATATGCGTCAGGCCGATAAGGTCCAGCAGTTTAAGCAGGATCCACGCCCAACAACATGTCTTCACTCTGTTTTCAATGTGCATACAGGAGATGAGTTGCTTTCCTATGAGGAATATGGTCATCTTCAGATAAATGCAGTGTCACTTTATCTCCTTTACCTTGTGGAAATGATTTCCTCAGGACTCCAGATTATCTACAACACTGATGAGGTCTCTTTTATTCAAAACCTTGTATTTTGTGTGGAAAGAGTTTACCGTGTGCCTGACTTTGGTGTCTGGGAAAGAGGAAGCAAATATAATAATGGCAGCACAGAGCTACATTCGAGCTCGGTTGGTTTAGCAAAAGCAGCTCTAGAAGCAATTAATGGATTCAACCTTTTTGGCAACCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATAATACAGATGCTGCCCTGCTCCCCTGCATCAGTTATCCTGCATTTGCCCTGGATGATGAAGTTCTTTTTAGCCAGACACTTGATAAAGTGGTTAGAAAATTAAAAGGAAAATATGGATTTAAACGTTTCTTGAGAGATGGGTATAGAACATCATTGGAAGATCCCAACAGATGCTACTACAAGCCAGCTGAAATTAAGCTATTTGATGGCATTGAATGTGAATTTCCCATATTTTTCCTTTATATGATGATTGATGGAGTTTTTAGAGGCAATCCTAAGCAAGTACAGGAATATCAGGATCTTTTGACTCCAGTACTTCATCATACCACAGAAGGATATCCTGTTGTACCAAAGTACTATTATGTGCCAGCTGACTTTGTAGAATATGAAAAAAATAACCCTGGTAGTCAAAAACGATTTCCTAGCAACTGTGGCCGTGATGGAAAACTGTTTCTTTGGGGACAAGCACTTTATATCATCGCAAAACTCCTGGCTGATGAACTTATTAGTCCTAAAGACATTGATCCTGTCCAGCGCTATGTCCCACTAAAGGATCAACGTAACGTGAGCATGAGGTTTTCCAATCAGGGCCCACTGGAAAATGACTTGGTAGTTCATGTGGCACTTATAGCAGAAAGCCAAAGACTTCAAGTTTTTCTGAACACATATGGTATTCAAACTCAAACTCCTCAACAAGTAGAACCCATTCAGATATGGCCTCAGCAGGAGCTTGTGAAAGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGATTTATCGCATTCTAGGAAAGACTGTGGTTTGTTACCCGATTATTTTCGACCTAAGTGATTTCTACATGTCTCAGGATGTTTTCCTGCTGATAGATGACATAAAGAATGCGCTGCAGTTCATTAAACAATATTGGAAAATGCATGGACGTCCACTTTTCCTTGTTCTCATCCGGGAAGACAATATAAGAGGTAGCCGGTTCAACCCCATATTAGATATGCTGGCAGCCCTTAAAAAAGGAATAATTGGAGGAGTCAAAGTTCATGTGGATCGTCTACAGACACTAATATCTGGAGCTGTGGTAGAACAACTTGATTTCCTACGAATCAGTGACACAGAAGAGCTTCCAGAATTTAAGAGTTTTGAGGAACTAGAACCTCCCAAACATTCAAAAGTCAAACGGCAAAGCAGCACCCCTAGTGCTCCTGAACTGGGACAGCAGCCGGATGTCAACATTAGTGAATGGAAGGACAAACCCACCCACGAAATTCTTCAAAAACTGAATGATTGCAGTTGTCTGGCTAGCCAAGCCATCCTGCTGGGTATACTGCTCAAAAGAGAAGGCCCCAACTTCATCACAAAGGAAGGTACCGTTTCTGATCACATTGAGAGAGTCTATAGAAGAGCTGGCAGCCAAAAACtttgGTTGGCGGTGCGCTACGGGGCTGCATTTACCCAGAAATTTTCTTCCTCTATAGCCCCACACATTACTACTTTTCTGGTACATGGGAAACAGGTAACTCTGGGTGCCTTTGGGCATGAAGAAGAAGTTATCTCTAATCCTTTGTCTCCAAGAGTGATTCAAAACATCATCTATTATAAGTGTAACACCCATGATGAGAGGGAAGCGGTCATTCAGCAAGAACTGGTCATCCATATTGGCTGGATCATCTCCAATAACCCTGAGTTATTCAGTGGCATGCTGAAAATACGAATCGGGTGGATCATCCATGCCATGGAGTATGAACTTCAGATCCGTGGCGGAGACAAGCCAGCCTTGGACTTGTATCAGCTGTCACCTAGTGAAGTTAAACAGCTTCTGCTGGATATTCTGCAGCCTCAACAGAATGGAAGATGTTGGCTGAACAGGCGTCAGATCGATGGGTCTTTGAATAGAACTCCCACCGGGTTCTATGACCGAGTGTGGCAGATTCTGGAGCGCACGCCCAATGGGATCATTGTTGCTGGGAAGCATTTGCCTCAGCAACCAACCCTGTCAGATATGACCATGTATGAGATGAATTTCTCTCTCCTTGTTGAAGACACGTTGGGAAATATTGACCAGCCACAGTACAGACAGATCGTTGTAGAGTTACTTATGGTTGTATCCATTGTACTGGAAAGAAACCCCGAGCTAGAATTTCAAGACAAAGTAGATCTAGACAGACTGGTCAAAGAAGCATTTAATGAATTTCAAAAAGATCAGAGTCGGCTAAAGGAAATTGAAAAACAAGATGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAAAAGAGGAACATGCAGCTATTTGACAAAGGCGGTGATGAATCTGCTGCTGGAAGGAGAAGTCAAGCCAAACAATGATGACCCGTGTCTGATTAGCTAGTGGGGAAGGTGTAGGAAGCTCTGTTGAGACACATGTTCTGAAGTGTGTTGTGTTTCATGTTCAAGCTTAATCAAGGCAGCCATTAATATACGAACTGAGCATGCTGGGGAGGTGAATGCCACATCCTTGGCGGGGTTATGGACCTCTTGCATGTCATAGCCAATCTAACGGTAATGGTAAATGCTTTTAATCAAGCAGGAAAAAGTTCTCATGATTATGCCAACTATAATAGTAATCCTCACTGAGTGATAAAAATAGTTTATGAATTGAAAATTTGCCGCTGCATGTTGTATGATCAAATAGTTCATCAAAATGAATCTTTGCTCTTTGGACTGAATTCTTACCATACTGCCATTAAAATAAATTTGCCAACTAGTAATGCATACTGGAAATCAAAAGATACTGAAAGAATGGTGAACTTCTCTTAGTGGTATTGTCATGCTAAAAGATGTTAATATACATCATAAAAGCAAAGTCAGCCAGCTGATATTTTGGTTCTCAAAAACTGCATTATTAATAATATTTTAGTATACAGAGCTATTCTACAGTTTTTACATTGTAAACATGACTGTGGTTTTGTATTTGCTAAATATAGGGGTTGGACTAAAATATAATAAATCTGTACCTTATCAAACATTTTCTTTGAGCTCCTGCTAAAAATAGGACATGTCTATGATTGTTCAAAAATATGTTAAATTTAggctcagcacagtagctcacacctgaaatcttagcacttcgggaggctgaggcaggtggatcacttgaggttaggagttcaagaccagcccagccaacatggtgaaaaccctgtctctactaaaaatacaaaaattagccaggcatgatggtgcatgcctttaaacccagctactgaggaggctgaggcatgagaattgcttgaaccaggagacggaggttgcagtgagctgaaatcctgccactgcacaccagcctgggtgacagagcgagactccatctcaaaaaaaaaaaaaaaaaagaaaaagaaaaaAATATGTTAAATTTAAGGACTGTTAACCTACGTTCTACTAGTAAAAACAACATTAAGGGTCATTAAATTTTATTTCTGAATTAATGAACATATCTGGACATTTTTTGTTCCTAGGTTCACAAGATTGAGCTTCAAACTCCCGAGTGTTTTCATTTAATTGATTTAGAGGTAGAATGGAAGAGAATCTGTGGTACCTACCATTATACACATTTAGTTGCCCAGTTTACTTAAACTTTAATGAAAGTAGAAAGTAGATTAAACATTTAAATTTTATTTCTTTCCTAAATAGAAAAAAAAAAGGCCCATGAGTTTGAGCCCTTGCCCCAAAGAGAGTTGTTTTTCTGATCAATCTTACTGGAGTTTCACCTGAGAAGATAGATTTGTCACATAAAAAATGCAGCTTATTTGTAGTGTTTTGAAAGGATGTAAGAAAGGATGAGTGGCTTCAGTATTGAGTCAATCGATATCAAATGAATGGATGTGTGAGCACATGGAAAAATCTGCTGTCAGTCACATTTCTCATAACATTGAGGTACAGTGCCGAGATCTTGCATAAGAAATTGTATGGATATTAGTTGGCAAAATTGAAATGAATGAGACACAGTTGGGCCCTAAAGAACTAAGGAGGGGGATTGACAAAGAATAGAATTAAACTACTTGACTCAATATGTTAAGAGAGTTTATGAAAAGATAGTCGTGAAGGGTGAAGCTAATTTGTAAAACTAATGCCTGAAAAAAACGTAAGCATGAAGTCCATGGAGAGGGAATTGAGAGCTGACACTTCATAACTGGAGAAACTGGAAATTAAAGAAAGGGAAACAAAAGACTTAAAATTTTTGTTTGCCGAAATTTTTACGAAAGTAAACTGTGTTGTAGTTTTAAGAATTTTTTTAAAAAATCTGATTAGCTGAGCAAAGTTACCAGAAAACTGCTATCCTAGTTGAAATCAAACATTACTTGCAAATGTGTTTTCTGAGTGTTAGCTTCCTGCTTAAATGTTACATATGCAAAATTCTGAAGTTTTCCTGTGCTACTCCtgaaagcattcagaatctgtgacacgtattgacttcatgctttgagattcaaaatttattgttctgaaagttatatttagaatcagtaaatcttgatattcaccttta

Publications

PMID - Link Title
No publications available for this retrocopy