Imagem 1

Example: RPL12P6, GAPDH, ENSG00000237984

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Summary

Retrocopy Name GAMTP2
Plot displaying the genomic locations of a retrocopy (in chr13) and its respective parental gene (in chr19). Each line represents a retrocopy.
Species Homo sapiens
Coordinates (hg38) chr13:34574326-34574566  UCSC
Coordinates (T2T) chr13:33792637-33792877  UCSC
Coordinates (hg19) chr13:35148463-35148703  UCSC
Strand -
Parental Sequence NM_138924.3
Parental seq. overlap 201 bp
Parental seq. overlap (%) 11.5%
Genomic Region Intergenic
Retrocopy Summary GAMTP2, located on chr13:34574326-34574566, is a retrocopy of the parental gene GAMT. 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 GAMT
Full Name guanidinoacetate N-methyltransferase
Also known as CCDS2|HEL-S-20|PIG2|TP53I2
Coordinate chr19:1397026-1401542
Strand -
Gene summary The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]

Homology

Species Scientific Name Retrocopy
Chimpanzee Pan troglodytes GAMTP2
Bonobo Pan paniscus GAMTP2
Gorilla Gorilla gorilla GAMTP1
Orangutan Pongo abelii GAMTP2
Gibbon Nomascus leucogenys GAMTP1
Green monkey Chlorocebus sabaeus GAMTP1
Crab-eating macaque Macaca fascicularis GAMTP2
Rhesus Macaca mulatta GAMTP2
Golden snub-nosed monkey Rhinopithecus roxellana GAMTP2
Baboon Papio anubis 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
Dolphin Tursiops truncatus Without Homology
Horse Equus caballus Without Homology
Dog Canis familiaris Without Homology
Panda Ailuropoda melanoleuca 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

Related Sequence

>GAMTP2
TCCCCTTGAAAGGCCTGTGGGAGAGAGTGGTGCCCCCTTGCTGGATGTTCACTTTGATGGGATCCCGTAGTACACATGCCCACTTTTGGAAGAGACCTGGCACATACGCCCGTTCAACTTCACTAAGAACCACACCTTTCACCTGCTGAAGCTGGGTGATGTCTCTTCACCTACTGCAATCTCACTTCCTGGGGGAACTGATGAAGTCCAAGCATCTTGGACATCACCACCGTGTTTGAGA
>NM_138924.3
AAGCCCCTGCAGGGAGCGGGCCCGGGCGGCGCGCGATCGAGGTCGGGTCGCCGTCCAGCCTGCAGCATGAGCGCCCCCAGCGCGACCCCCATCTTCGCGCCCGGCGAGAACTGCAGCCCCGCGTGGGGGGCGGCGCCCGCGGCCTACGACGCAGCGGACACGCACCTGCGCATCCTGGGCAAGCCGGTGATGGAGCGCTGGGAGACCCCCTATATGCACGCGCTGGCCGCCGCCGCCTCCTCCAAAGGGGGCCGGGTCCTGGAGGTGGGCTTTGGCATGGCCATCGCAGCGTCAAAGGTGCAGGAGGCGCCCATTGATGAGCATTGGATCATCGAGTGCAATGACGGCGTCTTCCAGCGGCTCCGGGACTGGGCCCCACGGCAGACACACAAGGTCATCCCCTTGAAAGGCCTGTGGGAGGATGTGGCACCCACCCTGCCTGACGGTCACTTTGATGGGATCCTGTACGACACGTACCCACTCTCGGAGGAGACCTGGCACACACACCAGTTCAACTTCATCAAGAACCACGCCTTTCGCCTGCTGAAGCCGGGGGGCGTCCTCACCTACTGCAACCTCACCTCCTGGGGGGAGCTGATGAAGTCCAAGTACTCAGACATCACCATCATGTTTGAGGTGCGCCCACCTGAAGTTCCCCATGGGTCTCCAGGAAGTGACCTTGGATGGGGGTGGGAAGGGGCTGCTGGAGCCACCTTGCTACCTGGGGAGGGTCCCTTCCTGACCCCCTGGGTGGGCTGGACTGTGCTGGTTCATTTAGAAATCAAAGTCCTTTGCCTGGCGCAGTGGCTgccaggagcagtggctcaggtctataatcccagcactgtggaaggccgaggtgggcagattgcttgagcctaggagttcaagaccagcctgggctacagagcaagacctcatctttcctaaaaaaaaaaaatacaaaaaactagctgggcgtggtggcgtgtgcctgtactcccagctacttgggaggctgaggtaggaggattgcttgggccccaggggcagaggttgcagtgagcccagatcgaaccactgcactccagcctgggtaacagagccagaccctgtctcaagaaaaaagaaagaaagaaagaaagaaagaaaatttaaaaaaaaaaTGGAAATCAggctgggcgtggtggctcacacctgtgatcccggcacttcggaaggccaaggcgggtggatcacttgagcccaggagtttgagcctagcctggccaacatggcagaatcccatctctactaaaaatacaaaagttagccaggcgtggtggcgggcgcctgtaattccagctactcgggaggctgaggcatgagaatcacttgaacatgggaggcggaggttgctgtgagccgagattgcaccgttgtactccagcctgggcaacagaccgagactccatctcaacaaaacaaaaacaaaaaaaaTGGAAATCAAAGTCCCTCACCAGCTCAACAACCTCCCATGGCTCCCCAGTGCCCTGTGGTTCAGCCTAAGCCCTGCGTGTTCCCCTCCCTCCAGCTGCCTCCACCTGGCTGTCTTTGCTGGTTCAGCAGTGCTTGTCTCGCTGTTCCCTCTGCCTGGTGGAGGCGGCCTATCTGAGAAGGGCTCTATGTGGTTGCCCTGGGCTGCTGTTGTGAGAGCCGGCTGGGTGCCTGTGGCCCCTGGGGCAGCTTTTCTTCCAAAATGGGAACTAGTGGCCTGTG

Publications

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