C2orf69_mit

Relationship

Family: C2orf69_mit

Block: X

Parent Family: No family

Comment

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)

Database

Interpro : IPR018881 Mitochondrial protein C2orf69 C2orf69_mit

PIRSF : No PIRSF

Pdoc : No Pdoc

Pfam : No Pfam

Prints : No Print

EC Number : No EC Number

Sequences

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

References (3)

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

Title : Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy - Wong_2021_Am.J.Hum.Genet_108_1301
Author(s) : Wong HH , Seet SH , Maier M , Gurel A , Traspas RM , Lee C , Zhang S , Talim B , Loh AYT , Chia CY , Teoh TS , Sng D , Rensvold J , Unal S , Shishkova E , Cepni E , Nathan FM , Sirota FL , Liang C , Yarali N , Simsek-Kiper PO , Mitani T , Ceylaner S , Arman-Bilir O , Mbarek H , Gumruk F , Efthymiou S , Ugurlu Ci Men D , Georgiadou D , Sotiropoulou K , Houlden H , Paul F , Pehlivan D , Laine C , Chai G , Ali NA , Choo SC , Keng SS , Boisson B , Yilmaz E , Xue S , Coon JJ , Ly TTN , Gilani N , Hasbini D , Kayserili H , Zaki MS , Isfort RJ , Ordonez N , Tripolszki K , Bauer P , Rezaei N , Seyedpour S , Khotaei GT , Bascom CC , Maroofian R , Chaabouni M , Alsubhi A , Eyaid W , Isikay S , Gleeson JG , Lupski JR , Casanova JL , Pagliarini DJ , Akarsu NA , Maurer-Stroh S , Cetinkaya A , Bertoli-Avella A , Mathuru AS , Ho L , Bard FA , Reversade B
Ref : American Journal of Human Genetics , 108 :1301 , 2021
Abstract :
PubMedSearch : Wong_2021_Am.J.Hum.Genet_108_1301
PubMedID: 34038740
Gene_locus related to this paper: human-cb069