This family includes mitochondrial protein C2orf69 from human, previously known as UPF0565, which is an important regulator of human mitochondrial function and may play a role in the respiratory chain and other metabolic pathways. Combined oxidative phosphorylation deficiency-53 (COXPD53) is an autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation due to mutations in the C2orf69 human gene (possibly Ser264 Asp300 His378 in Q8N8R5 CB069_HUMAN)
Interpro : IPR018881 Mitochondrial protein C2orf69 C2orf69_mit
PIRSF : No PIRSF
Pdoc : No Pdoc
Pfam : No Pfam
Prints : No Print
EC Number : No EC Number
Peptide in | Fasta |
Nucleotide in | Fasta |
Alignment with Multalin | Text only |
Seed alignment with MAFFT | No colour / coloured with Mview |
Alignment with MAFFT | No colour / coloured with Mview |
Dendrogram | The dnd file |
Gene_locus | Name | Species |
---|---|---|
9bras-r0g0x1 | Capsella rubella. DUF676 domain-containing protein Mitochondrial protein C2orf69 homolog | Capsella rubella |
9prim-a0a8c9hus8 | Piliocolobus tephrosceles (Ugandan red Colobus). Chromosome 11 C2orf69 homolog | Piliocolobus tephrosceles |
aedae-a0a6i8u195 | Aedes aegypti (Yellowfever mosquito) (Culex aegypti). Mitochondrial protein C2orf69 homolog | Aedes aegypti |
allmi-a0a151n9z4 | Alligator mississippiensis (American alligator)\; Alligator sinensis (Chinese alligator). UPF0565 protein C2orf69 homolog | Alligator mississippiensis |
ampoc-a0aaq6ah06 | Amphiprion ocellaris (Clown anemonefish). Mitochondrial protein C2orf69 homolog | Amphiprion ocellaris |
anapl-r0jdh0 | Anas platyrhynchos (Mallard) (Anas boschas)\; Anas platyrhynchos platyrhynchos (Northern mallard)\; Anser cygnoides (Swan goose). UPF0565 protein C2orf69 | Anas platyrhynchos |
anate-a0a3q1j9t7 | Anabas testudineus (Climbing perch) (Anthias testudineus). Mitochondrial protein C2orf69 homolog | Anabas testudineus |
anoca-h9gha2 | Anolis carolinensis (Green anole) (American chameleon). Chromosome 2 open reading frame 69 | Anolis carolinensis |
anoga-q7qen9 | Anopheles gambiae (African malaria mosquito). AGAP000078-PA | Anopheles gambiae |
anost-a0a182ycn3 | Anopheles stephensi (Indo-Pakistan malaria mosquito). Mitochondrial protein C2orf69 homolog | Anopheles stephensi |
aptfo-a0a087rcj2 | Aptenodytes forsteri (Emperor penguin). UPF0565 protein C2orf69 | Aptenodytes forsteri |
arath-f4iv28 | Arabidopsis thaliana (Mouse-ear cress). UPF0565 protein C2orf69 At2g44850 T13E15.14 | Arabidopsis thaliana |
astmx-a0a3b1kc26 | Astyanax mexicanus (Blind cave fish) (Astyanax fasciatus mexicanus). Mitochondrial protein C2orf69 homolog | Astyanax mexicanus |
bacdo-a0a034vjl2 | Bactrocera dorsalis (Oriental fruit fly) (Dacus dorsalis). Mitochondrial protein C2orf69 homolog LOC105224495 isoform X3 | Bactrocera dorsalis |
biogl-a0a9w2yb17 | Biomphalaria glabrata (Bloodfluke planorb) (Freshwater snail)\; Biomphalaria pfeifferi. Mitochondrial protein C2orf69 homolog isoform X1 | Biomphalaria glabrata |
bommo-a0a8r2qvw7 | Bombyx mori (Silk moth). Mitochondrial protein C2orf69 homolog | Bombyx mori |
bovin-e1bad1 | Bos taurus (Bovine)\; Bos mutus (wild yak)\; Bos mutus grunniens (Wild yak) (Bos grunniens)\; Bos indicus x Bos taurus (Hybrid cattle)\;Bos indicus (Zebu)\; Bison bison bison (North American plains bison). Chromosome 2 C2orf69 homolog | Bos taurus |
brafl-a0a9j7lt10 | Branchiostoma floridae (Florida lancelet) (Amphioxus). UPF0565 protein C2orf69 homolog | Branchiostoma floridae |
brana-a0a078gq20 | Brassica napus (Rape). BnaC04g49990D protein | Brassica napus |
bucrh-a0a091hf06 | Buceros rhinoceros silvestris. UPF0565 protein C2orf69 | Buceros rhinoceros silvestris |
calja-f6rve8 | Callithrix jacchus (White-tufted-ear marmoset). UPF0565 protein C2orf69 | Callithrix jacchus |
calmi-a0a4w3jbg8 | Callorhinchus milii (Ghost shark). Chromosome 2 open reading frame 69 | Callorhinchus milii |
calur-a0a3q7s7n7 | Callorhinus ursinus (Northern fur seal). UPF0565 protein C2orf69 homolog | Callorhinus ursinus |
camba-a0a9w3fcj6 | Camelus bactrianus (Bactrian camel). Mitochondrial protein C2orf69 homolog | Camelus bactrianus |
camdr-a0a5n4e6h4 | Camelus dromedarius (Dromedary) (Arabian camel). UPF0565 protein C2orf69 | Camelus dromedarius |
camfr-a0a8b6ylh5 | Camelus ferus (Wild bactrian camel) (Camelus bactrianus ferus). UPF0565 protein C2orf69 homolog | Camelus ferus |
camsi-a0a4s4dig9 | Camellia sinensis var. sinensis. DUF676 domain-containing protein | Camellia sinensis var. sinensis |
canlf-a0a8i3pyz2 | Canis lupus familiaris (Dog) (Canis familiaris)\; Canis lupus dingo (dingo). Chromosome 2 open reading frame 69 | Canis lupus familiaris |
caphi-a0a452e664 | Capra hircus (Goat). UPF0565 protein C2orf69 homolog | Capra hircus |
cascn-a0a250xzr4 | Castor canadensis (American beaver). UPF0565 protein C2orf69 | Castor canadensis |
cavpo-h0vfq4 | Cavia porcellus (Guinea pig). Chromosome 2 open reading frame 69 | Cavia porcellus |
cebim-a0a2k5qg30 | Cebus imitator (Panamanian white-faced capuchin) (Cebus capucinus imitator). Chromosome 2 open reading frame 69 | Cebus imitator |
cerat-a0a2k5ln49 | Cercocebus atys (Sooty mangabey) (Cercocebus torquatus atys). Chromosome 2 open reading frame 69 | Cercocebus atys |
cerca-a0a811u7m6 | Ceratitis capitata (Mediterranean fruit fly) (Tephritis capitata). (Mediterranean fruit fly) hypothetical protein | Ceratitis capitata |
chemy-m7aj25 | Chelonia mydas (Green sea-turtle) (Chelonia agassizi). UPF0565 protein C2orf69 | Chelonia mydas |
chick-a0a8v1a295 | Gallus gallus (Chicken). C2orf69 homolog | Gallus gallus |
chlsb-a0a0d9rg26 | Chlorocebus sabaeus (Green monkey) (Simia sabaea). Chromosome 2 open reading frame 69 | Chlorocebus sabaeus |
cimle-a0a8i6sr30 | Cimex lectularius (Bed bug) (Acanthia lectularia). Mitochondrial protein C2orf69 homolog | Cimex lectularius |
citsi-a0a067h0k9 | Citrus sinensis (Sweet orange) (Citrus aurantium var. sinensis). DUF676 domain-containing protein | Citrus sinensis |
closi-h2krb5 | Clonorchis sinensis (Chinese liver fluke). UPF0565 protein C2orf69 homolog | Clonorchis sinensis |
cofca-a0a068umf8 | Coffea canephora (Robusta coffee)\; Coffea arabica (Arabian coffee). UPF0565 protein C2orf69 | Coffea canephora |
colap-a0a2k5jk71 | Colobus angolensis palliatus (Peters' Angolan colobus). CB069 protein | Colobus angolensis palliatus |
colli-a0a2i0lxl7 | Columba livia (Rock dove). CB069 protein | Columba livia |
cotja-a0a8c2tqn8 | Coturnix japonica (Japanese quail) (Coturnix coturnix japonica). Chromosome 7 open reading frame, C2orf69 | Coturnix japonica |
crigr-g3hdc0 | Cricetulus griseus (Chinese hamster) (Cricetulus barabensis griseus). UPF0565 protein C2orf69-like | Cricetulus griseus |
crocr-a0a6g1a8t0 | Crocuta crocuta (Spotted hyena). CB069 protein | Crocuta crocuta |
culqu-b0xkl3 | Culex quinquefasciatus (Southern house mosquito) (Culex pungens). Mitochondrial protein C2orf69 homolog | Culex quinquefasciatus |
danre-cb069 | Danio rerio (Zebrafish) (Brachydanio rerio). Mitochondrial protein C2orf69 homolog | Danio rerio |
dappu-e9h0k6 | Daphnia pulex (Water flea). Mitochondrial protein C2orf69 homolog | Daphnia pulex |
delle-a0a2y9n179 | Delphinapterus leucas (Beluga whale)\; Physeter macrocephalus (Sperm whale) (Physeter catodon)\; Lipotes vexillifer (Yangtze river dolphin)\; Neophocaena asiaeorientalis asiaeorientalis (Yangtze finless porpoise) (Neophocaena phocaenoides subsp. asiaeorientalis)\; Balaenoptera acutorostrata scammoni (North Pacific minke whale) (Balaenoptera davidsoni)\; Balaenoptera musculus (Blue whale)\; Balaenoptera physalus (Fin whale) (Balaena physalus). UPF0565 protein Mitochondrial protein C2orf69 homolog | Delphinapterus leucas |
drome-q8mqj5 | Drosophila melanogaster (Fruit fly). Mitochondrial protein C2orf69 | Drosophila melanogaster |
egrga-a0a091jiv6 | Egretta garzetta (Little egret). UPF0565 protein C2orf69 | Egretta garzetta |
eleel-a0a4w4duk0 | Electrophorus electricus (Electric eel) (Gymnotus electricus). Chromosome 2 open reading frame 69 | Electrophorus electricus |
erieu-a0a1s3ab05 | Erinaceus europaeus (Western European hedgehog). UPF0565 protein C2orf69 homolog | Erinaceus europaeus |
fashe-a0a4e0r3l9 | Fasciola hepatica (Liver fluke). Mitochondrial protein C2orf69 homolog | Fasciola hepatica |
gadmo-a0a8c4zcs6 | Gadus morhua (Atlantic cod). Chromosome 17 C2orf69 homolog | Gadus morhua |
galpy-a0a8j6aky9 | Galemys pyrenaicus (Iberian desman) (Pyrenean desman). UPF0565 protein C2orf69 | Galemys pyrenaicus |
gorgo-g3qsa0 | Gorilla gorilla gorilla (Western lowland gorilla). Chromosome 2 open reading frame 69 | Gorilla gorilla gorilla |
gulgu-a0a9x9q5i7 | Gulo gulo (Wolverine) (Gluton). CB069 protein | Gulo gulo |
harsa-e2baa2 | Harpegnathos saltator (Jerdon's jumping ant). UPF0565 protein C2orf69-like protein | Harpegnathos saltator |
hirru-a0a3m0l5z7 | Hirundo rustica rustica. CB069 protein | Hirundo rustica rustica |
homam-a0a8j5mne5 | Homarus americanus (American lobster). UPF0565 protein C2orf69-like | Homarus americanus |
horse-f7bge3 | Equus caballus (Horse)\; Equus asinus (Donkey) (Equus africanus asinus). Chromosome 18 C2orf69 homolog | Equus caballus |
human-cb069 | Homo sapiens (Human). Mitochondrial protein C2orf69 | Homo sapiens |
hydvu-a0a8b6xmq5 | Hydra vulgaris (Hydra) (Hydra attenuata). UPF0565 protein C2orf69 homolog | Hydra vulgaris |
icttr-i3mfq3 | Ictidomys tridecemlineatus (Thirteen-lined ground squirrel) (Spermophilus tridecemlineatus). CB069 protein | Ictidomys tridecemlineatus |
jacja-a0a8c5l7b2 | Jaculus jaculus (Lesser Egyptian jerboa). CB069 protein | Jaculus jaculus |
lacsa-a0a9r1w644 | Lactuca sativa (Garden lettuce). Mitochondrial protein C2orf69 homolog | Lactuca sativa |
latch-h3bf60 | Latimeria chalumnae (Coelacanth). Chromosome 2 open reading frame 69 | Latimeria chalumnae |
lepoc-w5mcw3 | Lepisosteus oculatus (Spotted gar). Chromosome LG12 open reading frame, C2orf69 | Lepisosteus oculatus |
loxaf-g3tlc3 | Loxodonta africana (African elephant). Chromosome 2 open reading frame 69 | Loxodonta africana |
lynca-a0a667h5y2 | Lynx canadensis (Canada lynx) (Felis canadensis). Chromosome C1 C2orf69 homolog | Lynx canadensis |
lynpa-a0a485nyb5 | Lynx pardinus (Iberian lynx) (Felis pardina). CB069 protein | Lynx pardinus |
macfa-a0a2k5v0x9 | Macaca fascicularis (Crab-eating macaque) (Cynomolgus monkey). Chromosome 2 open reading frame 69 | Macaca fascicularis |
macmu-a0a1d5qd40 | Macaca mulatta (Rhesus macaque). Chromosome 12 C2orf69 homolog | Macaca mulatta |
macne-a0a2k6chz5 | Macaca nemestrina (Pig-tailed macaque). Chromosome 2 open reading frame 69 | Macaca nemestrina |
manes-a0a251lwk2 | Manihot esculenta (Cassava) (Jatropha manihot). Mitochondrial protein C2orf69 homolog | Manihot esculenta |
manle-a0a2k5xjx3 | Mandrillus leucophaeus (Drill) (Papio leucophaeus). Chromosome 2 open reading frame 69 | Mandrillus leucophaeus |
manse-a0a921yyy7 | Manduca sexta (Tobacco hawkmoth) (Tobacco hornworm).C2orf69 homolog | Manduca sexta |
marma-a0a8c5zc20 | Marmota marmota marmota (Alpine marmot)\; Marmota monax (Woodchuck. CB069 protein | Marmota marmota marmota |
medtr-a0a072tvh7 | Medicago truncatula (Barrel medic) (Medicago tribuloides). Mitochondrial protein C2orf69 homolog | Medicago truncatula |
mesau-a0a1u7qu38 | Mesocricetus auratus (Golden hamster). UPF0565 protein C2orf69 homolog | Mesocricetus auratus |
micmu-a0a8b7eir3 | Microcebus murinus (Gray mouse lemur) (Lemur murinus). UPF0565 protein C2orf69 homolog | Microcebus murinus |
micoh-a0a8j6gj88 | Microtus ochrogaster (Prairie vole). UPF0565 protein | Microtus ochrogaster |
mondo-f6pq90 | Monodelphis domestica (Gray short-tailed opossum). UPF0565 protein C2orf69 | Monodelphis domestica |
mouse-cb069 | Mus musculus (Mouse)\; Mus spicilegus (Steppe mouse). Mitochondrial protein C2orf69 homolog | Mus musculus |
muspf-m3y9c2 | Mustela putorius furo (European domestic ferret) (Mustela furo). UPF0565 protein C2orf69 homolog | Mustela putorius furo |
myolu-g1q764 | Myotis lucifugus (Little brown bat). Chromosome 2 open reading frame 69 | Myotis lucifugus |
myomy-a0a7j7whc9 | Myotis myotis (Greater mouse-eared bat). CB069 protein | Myotis myotis |
myted-a0a8s3q7l9 | Mytilus edulis (Blue mussel)\; Mytilus galloprovincialis (Mediterranean mussel). UPF0565 protein C2orf69 homolog | Mytilus edulis |
najna-a0a8c6x7b9 | Naja naja (Indian cobra). Chromosome 2 open reading frame 69 | Naja naja |
nemve-a7sf99 | Nematostella vectensis (Starlet sea anemone). Mitochondrial protein C2orf69 homolog | Nematostella vectensis |
neovi-a0a8c7az89 | Neovison vison (American mink) (Mustela vison). Chromosome 2 open reading frame 69 | Neovison vison |
nomle-a0a2i3htk5 | Nomascus leucogenys (Northern white-cheeked gibbon) (Hylobates leucogenys). Chromosome 2 open reading frame 69 | Nomascus leucogenys |
octde-a0a6p3f1z7 | Octodon degus (Degu) (Sciurus degus). UPF0565 protein C2orf69 homolog | Octodon degus |
octvu-a0a6p7ttt9 | Octopus vulgaris (Common octopus). UPF0565 protein C2orf69 homolog | Octopus vulgaris |
odoro-a0a2u3vg47 | Odobenus rosmarus divergens (Pacific walrus). UPF0565 protein C2orf69 homolog | Odobenus rosmarus divergens |
oncmy-a0a060wdb0 | Oncorhynchus mykiss (Rainbow trout) (Salmo gairdneri). Mitochondrial protein C2orf69 homolog | Oncorhynchus mykiss |
ophha-v8nqm9 | Ophiophagus hannah (King cobra) (Naja hannah). CB069 protein | Ophiophagus hannah |
oreni-a0a669b442 | Oreochromis niloticus (Nile tilapia) (Tilapia nilotica). Linkage group 16 C2orf69 homolog | Oreochromis niloticus |
ornan-f6umy6 | Ornithorhynchus anatinus (Duckbill platypus). Mitochondrial protein C2orf69 homolog | Ornithorhynchus anatinus |
oryla-h2mkp1 | Oryzias latipes (Japanese rice fish) (Japanese killifish). Chromosome 2 open reading frame 69 | Oryzias latipes |
orysa-q949d3 | Oryza sativa (Rice) subsp. indica\; Oryza barthii\; Oryza glumipatula\; Oryza nivara (Indian wild rice) (Oryza sativa f. spontanea). C2orf69 homolog | Oryza sativa |
panle-a0a8c9d512 | Panthera leo (Lion). Chromosome 2 open reading frame 69 | Panthera leo |
panpa-a0a2r9b941 | Pan paniscus (Pygmy chimpanzee) (Bonobo). Chromosome 2 open reading frame 69 | Pan paniscus |
panta-a0a8c9j1p8 | Panthera tigris altaica (Siberian tiger). Chromosome 2 open reading frame 69 | Panthera tigris altaica |
pantr-h2qj77 | Pan troglodytes (Chimpanzee). Chromosome 2 open reading frame 69 | Pan troglodytes |
papan-a0a8i5nr92 | Papio anubis (Olive baboon). Chromosome 2 open reading frame 69 | Papio anubis |
pea-a0a9d4y3r6 | Pisum sativum (Garden pea) (Lathyrus oleraceus). Mitochondrial protein C2orf69 homolog | Pisum sativum |
pedhc-e0ve26 | Pediculus humanus subsp. corporis (Body louse). Mitochondrial protein C2orf69 homolog | Pediculus humanus subsp. corporis |
phaci-a0a6p5k6h4 | Phascolarctos cinereus (Koala). UPF0565 protein C2orf69 homolog | Phascolarctos cinereus |
phoss-a0a8c9crg4 | Phocoena sinus (Vaquita). Chromosome 7 C2orf69 homolog | Phocoena sinus |
phyni-v9ewc0 | Phytophthora nicotianae (Phytophthora parasitica) P1569. open reading frame, C2orf69 | Phytophthora nicotianae |
piebr-a0a9p0swu6 | Pieris brassicae (White butterfly) (Large white butterfly). Arb2 domain-containing protein | Pieris brassicae |
pig-f1si73 | Sus scrofa (Pig). UPF0565 protein C2orf69 | Sus scrofa |
plama-a0a1d3pai7 | Plasmodium malariae. Serine hydrolase FSH domain-containing protein | Plasmodium malariae |
plarl-a0a1j1h4v5 | Plasmodium relictum. Serine hydrolase FSH domain-containing protein | Plasmodium relictum |
poefo-a0a087x7m8 | Poecilia formosa (Amazon molly) (Limia formosa). Mitochondrial protein C2orf69 homolog | Poecilia formosa |
ponab-k7etz1 | Pongo abelii (Sumatran orangutan) (Pongo pygmaeus abelii). Chromosome 2 open reading frame 69 | Pongo abelii |
proco-a0a2k6ekm8 | Propithecus coquereli (Coquerel's sifaka) (Propithecus verreauxi coquereli). Chromosome 2 open reading frame 69 | Propithecus coquereli |
prupe-m5xdf6 | Prunus persica (Peach) (Amygdalus persica). C2orf69 homolog | Prunus persica |
pteal-l5jzq3 | Pteropus alecto (Black flying fox). CB069 protein | Pteropus alecto |
pygad-a0a093nif5 | Pygoscelis adeliae (Adelie penguin). UPF0565 protein C2orf69 | Pygoscelis adeliae |
rabit-g1tbp6 | Oryctolagus cuniculus (Rabbit). Chromosome 2 open reading frame 69 | Oryctolagus cuniculus |
rat-g3v7a7 | Rattus norvegicus (Rat). Similar to CG31122-PA | Rattus norvegicus |
rhibe-a0a2k6lz45 | Rhinopithecus bieti (Black snub-nosed monkey) (Pygathrix bieti)\; Rhinopithecus roxellana (Golden snub-nosed monkey) (Pygathrix roxellana). open reading frame 69 C2orf69 | Rhinopithecus bieti |
rhimp-a0a9j6d5u9 | Rhipicephalus microplus (Cattle tick) (Boophilus microplus). protein C2orf69 homolog | Rhipicephalus microplus |
ricco-b9rd08 | Ricinus communis (Castor bean). Mitochondrial protein C2orf69 homolog | Ricinus communis |
rosch-a0a2p6sfb4 | Rosa chinensis (China rose). Alpha\/Beta hydrolase | Rosa chinensis |
saibb-a0a2k6ud87 | Saimiri boliviensis boliviensis (Bolivian squirrel monkey). Chromosome 2 open reading frame 69 | Saimiri boliviensis boliviensis |
salsa-a0a1s3nvg4 | Salmo salar (Atlantic salmon)\; Salmo trutta (Brown trout). UPF0565 protein C2orf69 homolog isoform X1 | Salmo salar |
sapap-a0a6j3hw09 | Sapajus apella (Brown-capped capuchin) (Cebus apella). UPF0565 protein C2orf69 homolog | Sapajus apella |
sarha-g3wn47 | Sarcophilus harrisii (Tasmanian devil) (Sarcophilus laniarius). Chromosome 2 open reading frame 69 | Sarcophilus harrisii |
schja-a0a4z2cry6 | Schistosoma japonicum (Blood fluke). UPF0565 protein C2orf69 | Schistosoma japonicum |
schma-g4v9l4 | Schistosoma mansoni (Blood fluke). UPF0565 protein C2orf69 homolog | Schistosoma mansoni |
sheep-w5q2r8 | Ovis aries (Sheep)\; Ovis ammon polii. CB069 protein Mitochondrial protein C2orf69 homolog | Ovis aries |
soltu-m1cgj4 | Solanum tuberosum (Potato). Mitochondrial protein C2orf69 homolog | Solanum tuberosum |
spaau-a0a671v529 | Sparus aurata (Gilthead sea bream). Chromosome 9 C2orf69 homolog | Sparus aurata |
spolt-a0a9j7ep03 | Spodoptera litura (Asian cotton leafworm). UPF0565 protein C2orf69 homolog isoform X1 | Spodoptera litura |
strpu-a0a7m7p683 | Strongylocentrotus purpuratus (Purple sea urchin). Mitochondrial protein C2orf69 homolog | Strongylocentrotus purpuratus |
sursu-a0a673tg48 | Suricata suricatta (Meerkat). Chromosome 2 open reading frame 69 | Suricata suricatta |
taegu-a0a674h5w1 | Taeniopygia guttata (Zebra finch) (Poephila guttata). Chromosome 7 C2orf69 homolog | Taeniopygia guttata |
takru-h2tjb5 | Takifugu rubripes (Japanese pufferfish) (Fugu rubripes). Chromosome 1 C2orf69 homolog | Takifugu rubripes |
tetng-h3dkg4 | Tetraodon nigroviridis (Spotted green pufferfish) (Chelonodon nigroviridis). Chromosome 2 open reading frame 69 | Tetraodon nigroviridis |
tetur-t1k3h0 | Tetranychus urticae (Two-spotted spider mite). Mitochondrial protein C2orf69 homolog | Tetranychus urticae |
tobac-a0a1s4a3g2 | Nicotiana tabacum (Common tobacco). UPF0565 protein C2orf69 homolog | Nicotiana tabacum |
triad-b3s4l2 | Trichoplax adhaerens (Trichoplax reptans). Mitochondrial protein C2orf69 homolog | Trichoplax adhaerens |
trica-a0a139waj0 | Tribolium castaneum (Red flour beetle) | Tribolium castaneum |
trini-a0a7e5vft4 | Trichoplusia ni (Cabbage looper). UPF0565 protein C2orf69 homolog | Trichoplusia ni |
tupch-l9kne0 | Tupaia chinensis (Chinese tree shrew). Mitochondrial protein C2orf69 homolog | Tupaia chinensis |
turtr-a0a2u4bnm6 | Tursiops truncatus (Atlantic bottle-nosed dolphin) (Delphinus truncatus). UPF0565 protein C2orf69 homolog | Tursiops truncatus |
ursma-a0a384bu49 | Ursus maritimus (Polar bear) (Thalarctos maritimus)\; Ursus americanus (American black bear) (Euarctos americanus). UPF0565 protein C2orf69 homolog | Ursus maritimus |
vicpa-a0a6i9ia23 | Vicugna pacos (Alpaca) (Lama pacos). UPF0565 protein C2orf69 homolog | Vicugna pacos |
vitvi-a5avx0 | Vitis vinifera (Grape). Mitochondrial protein C2orf69 homolog | Vitis vinifera |
xenla-a0a1l8epr3 | Xenopus laevis (African clawed frog). UPF0565 protein C2orf69 isoform X1 | Xenopus laevis |
xentr-q0p4l6 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis). UPF0565 protein C2orf69 homolog | Xenopus tropicalis |
xipma-m3zy59 | Xiphophorus maculatus (Southern platyfish) (Platypoecilus maculatus). Chromosome 7 C2orf69 homolog | Xiphophorus maculatus |
zizjj-a0a6p4a345 | Ziziphus jujuba (Chinese jujube) (Ziziphus sativa). UPF0565 protein C2orf69 homolog | Ziziphus jujuba |
Title : A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia - Werren_2023_Am.J.Med.Genet.A_191_2446 |
Author(s) : Werren EA , Srinivasan VM , Gowda VK , Pandey A , Vaish S , Kabbur AR , Nandeesh BN , Srivastava A |
Ref : American Journal of Medicine Genet A , 191 :2446 , 2023 |
Abstract : |
PubMedSearch : Werren_2023_Am.J.Med.Genet.A_191_2446 |
PubMedID: 37337918 |
Gene_locus related to this paper: human-cb069 |
Title : C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation - Lausberg_2021_J.Clin.Invest_131_e143078 |
Author(s) : Lausberg E , Giesselmann S , Dewulf JP , Wiame E , Holz A , Salvarinova R , van Karnebeek CD , Klemm P , Ohl K , Mull M , Braunschweig T , Weis J , Sommer CJ , Demuth S , Haase C , Stollbrink-Peschgens C , Debray FG , Libioulle C , Choukair D , Oommen PT , Borkhardt A , Surowy H , Wieczorek D , Wagner N , Meyer R , Eggermann T , Begemann M , van Schaftingen E , Hausler M , Tenbrock K , van den Heuvel L , Elbracht M , Kurth I , Kraft F |
Ref : J Clinical Investigation , 131 : , 2021 |
Abstract : |
PubMedSearch : Lausberg_2021_J.Clin.Invest_131_e143078 |
PubMedID: 33945503 |
Gene_locus related to this paper: human-cb069 |