human-cb069

Homo sapiens (Human). Mitochondrial protein C2orf69

Comment

Relationship

Family : C2orf69_mit

Block : X

Position in NCBI Life Tree : Homo sapiens

(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)

> cellular organisms N E > Eukaryota N E > Opisthokonta N E > Metazoa N E > Eumetazoa N E > Bilateria N E > Deuterostomia N E > Chordata N E > Craniata N E > Vertebrata N E > Gnathostomata N E > Teleostomi N E > Euteleostomi N E > Sarcopterygii N E > Dipnotetrapodomorpha N E > Tetrapoda N E > Amniota N E > Mammalia N E > Theria N E > Eutheria N E > Boreoeutheria N E > Euarchontoglires N E > Primates N E > Haplorrhini N E > Simiiformes N E > Catarrhini N E > Hominoidea N E > Hominidae N E > Homininae N E > Homo N E > Homo sapiens N E

Molecular evidence

Database

Sequence

Peptide

MWGFRLLRSP PLLLLLPQLG IGNASSCSQA RTMNPGGSGG ARCSLSAEVR RRQCLQLSTV PGADPQRSNE LLLLAAAGEG LERQDLPGDP AKEEPQPPPQ HHVLYFPGDV QNYHEIMTRH PENYQWENWS LENVATILAH RFPNSYIWVI KCSRMHLHKF SCYDNFVKSN MFGAPEHNTD FGAFKHLYML LVNAFNLSQN SLSKKSLNVW NKDSIASNCR SSPSHTTNGC QGEKVRTCEK SDESAMSFYP PSLNDASFTL IGFSKGCVVL NQLLFELKEA KKDKNIDAFI KSIRTMYWLD GGHSGGSNTW VTYPEVLKEF AQTGIIVHTH VTPYQVRDPM RSWIGKEHKK FVQILGDLGM QVTSQIHFTK EAPSIENHFR VHEVF

References (8)

Title : Identification and validation of oxidative stress-related diagnostic markers for recurrent pregnancy loss: insights from machine learning and molecular analysis - Hu_2024_Mol.Divers__
Author(s) : Hu H , Yu L , Cheng Y , Xiong Y , Qi D , Li B , Zhang X , Zheng F
Ref : Mol Divers , : , 2024
Abstract :
PubMedSearch : Hu_2024_Mol.Divers__
PubMedID: 39225907
Gene_locus related to this paper: human-cb069

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

Title : Initial characterization of the human central proteome - Burkard_2011_BMC.Syst.Biol_5_17
Author(s) : Burkard TR , Planyavsky M , Kaupe I , Breitwieser FP , Burckstummer T , Bennett KL , Superti-Furga G , Colinge J
Ref : BMC Syst Biol , 5 :17 , 2011
Abstract :
PubMedSearch : Burkard_2011_BMC.Syst.Biol_5_17
PubMedID: 21269460
Gene_locus related to this paper: human-cb069

Title : Generation and annotation of the DNA sequences of human chromosomes 2 and 4 - Hillier_2005_Nature_434_724
Author(s) : Hillier LW , Graves TA , Fulton RS , Fulton LA , Pepin KH , Minx P , Wagner-McPherson C , Layman D , Wylie K , Sekhon M , Becker MC , Fewell GA , Delehaunty KD , Miner TL , Nash WE , Kremitzki C , Oddy L , Du H , Sun H , Bradshaw-Cordum H , Ali J , Carter J , Cordes M , Harris A , Isak A , Van Brunt A , Nguyen C , Du F , Courtney L , Kalicki J , Ozersky P , Abbott S , Armstrong J , Belter EA , Caruso L , Cedroni M , Cotton M , Davidson T , Desai A , Elliott G , Erb T , Fronick C , Gaige T , Haakenson W , Haglund K , Holmes A , Harkins R , Kim K , Kruchowski SS , Strong CM , Grewal N , Goyea E , Hou S , Levy A , Martinka S , Mead K , McLellan MD , Meyer R , Randall-Maher J , Tomlinson C , Dauphin-Kohlberg S , Kozlowicz-Reilly A , Shah N , Swearengen-Shahid S , Snider J , Strong JT , Thompson J , Yoakum M , Leonard S , Pearman C , Trani L , Radionenko M , Waligorski JE , Wang C , Rock SM , Tin-Wollam AM , Maupin R , Latreille P , Wendl MC , Yang SP , Pohl C , Wallis JW , Spieth J , Bieri TA , Berkowicz N , Nelson JO , Osborne J , Ding L , Sabo A , Shotland Y , Sinha P , Wohldmann PE , Cook LL , Hickenbotham MT , Eldred J , Williams D , Jones TA , She X , Ciccarelli FD , Izaurralde E , Taylor J , Schmutz J , Myers RM , Cox DR , Huang X , McPherson JD , Mardis ER , Clifton SW , Warren WC , Chinwalla AT , Eddy SR , Marra MA , Ovcharenko I , Furey TS , Miller W , Eichler EE , Bork P , Suyama M , Torrents D , Waterston RH , Wilson RK
Ref : Nature , 434 :724 , 2005
Abstract :
PubMedSearch : Hillier_2005_Nature_434_724
PubMedID: 15815621
Gene_locus related to this paper: human-ABHD1 , human-LDAH , human-ABHD18 , human-KANSL3 , human-PGAP1 , human-PREPL , human-cb069

Title : Complete sequencing and characterization of 21,243 full-length human cDNAs - Ota_2004_Nat.Genet_36_40
Author(s) : Ota T , Suzuki Y , Nishikawa T , Otsuki T , Sugiyama T , Irie R , Wakamatsu A , Hayashi K , Sato H , Nagai K , Kimura K , Makita H , Sekine M , Obayashi M , Nishi T , Shibahara T , Tanaka T , Ishii S , Yamamoto J , Saito K , Kawai Y , Isono Y , Nakamura Y , Nagahari K , Murakami K , Yasuda T , Iwayanagi T , Wagatsuma M , Shiratori A , Sudo H , Hosoiri T , Kaku Y , Kodaira H , Kondo H , Sugawara M , Takahashi M , Kanda K , Yokoi T , Furuya T , Kikkawa E , Omura Y , Abe K , Kamihara K , Katsuta N , Sato K , Tanikawa M , Yamazaki M , Ninomiya K , Ishibashi T , Yamashita H , Murakawa K , Fujimori K , Tanai H , Kimata M , Watanabe M , Hiraoka S , Chiba Y , Ishida S , Ono Y , Takiguchi S , Watanabe S , Yosida M , Hotuta T , Kusano J , Kanehori K , Takahashi-Fujii A , Hara H , Tanase TO , Nomura Y , Togiya S , Komai F , Hara R , Takeuchi K , Arita M , Imose N , Musashino K , Yuuki H , Oshima A , Sasaki N , Aotsuka S , Yoshikawa Y , Matsunawa H , Ichihara T , Shiohata N , Sano S , Moriya S , Momiyama H , Satoh N , Takami S , Terashima Y , Suzuki O , Nakagawa S , Senoh A , Mizoguchi H , Goto Y , Shimizu F , Wakebe H , Hishigaki H , Watanabe T , Sugiyama A , Takemoto M , Kawakami B , Watanabe K , Kumagai A , Itakura S , Fukuzumi Y , Fujimori Y , Komiyama M , Tashiro H , Tanigami A , Fujiwara T , Ono T , Yamada K , Fujii Y , Ozaki K , Hirao M , Ohmori Y , Kawabata A , Hikiji T , Kobatake N , Inagaki H , Ikema Y , Okamoto S , Okitani R , Kawakami T , Noguchi S , Itoh T , Shigeta K , Senba T , Matsumura K , Nakajima Y , Mizuno T , Morinaga M , Sasaki M , Togashi T , Oyama M , Hata H , Komatsu T , Mizushima-Sugano J , Satoh T , Shirai Y , Takahashi Y , Nakagawa K , Okumura K , Nagase T , Nomura N , Kikuchi H , Masuho Y , Yamashita R , Nakai K , Yada T , Ohara O , Isogai T , Sugano S
Ref : Nat Genet , 36 :40 , 2004
Abstract :
PubMedSearch : Ota_2004_Nat.Genet_36_40
PubMedID: 14702039
Gene_locus related to this paper: human-ABHD1 , human-ABHD4 , human-ABHD12 , human-ABHD16A , human-ACOT1 , human-LDAH , human-ABHD18 , human-CES1 , human-CES4A , human-CES5A , human-CPVL , human-DAGLB , human-EPHX2 , human-KANSL3 , human-LIPA , human-LPL , human-MEST , human-NDRG1 , human-NLGN1 , human-NLGN4X , human-PRCP , human-PRSS16 , human-SERAC1 , human-TMEM53 , human-cb069

Title : The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) - Gerhard_2004_Genome.Res_14_2121
Author(s) : Gerhard DS , Wagner L , Feingold EA , Shenmen CM , Grouse LH , Schuler G , Klein SL , Old S , Rasooly R , Good P , Guyer M , Peck AM , Derge JG , Lipman D , Collins FS , Jang W , Sherry S , Feolo M , Misquitta L , Lee E , Rotmistrovsky K , Greenhut SF , Schaefer CF , Buetow K , Bonner TI , Haussler D , Kent J , Kiekhaus M , Furey T , Brent M , Prange C , Schreiber K , Shapiro N , Bhat NK , Hopkins RF , Hsie F , Driscoll T , Soares MB , Casavant TL , Scheetz TE , Brown-stein MJ , Usdin TB , Toshiyuki S , Carninci P , Piao Y , Dudekula DB , Ko MS , Kawakami K , Suzuki Y , Sugano S , Gruber CE , Smith MR , Simmons B , Moore T , Waterman R , Johnson SL , Ruan Y , Wei CL , Mathavan S , Gunaratne PH , Wu J , Garcia AM , Hulyk SW , Fuh E , Yuan Y , Sneed A , Kowis C , Hodgson A , Muzny DM , McPherson J , Gibbs RA , Fahey J , Helton E , Ketteman M , Madan A , Rodrigues S , Sanchez A , Whiting M , Madari A , Young AC , Wetherby KD , Granite SJ , Kwong PN , Brinkley CP , Pearson RL , Bouffard GG , Blakesly RW , Green ED , Dickson MC , Rodriguez AC , Grimwood J , Schmutz J , Myers RM , Butterfield YS , Griffith M , Griffith OL , Krzywinski MI , Liao N , Morin R , Palmquist D , Petrescu AS , Skalska U , Smailus DE , Stott JM , Schnerch A , Schein JE , Jones SJ , Holt RA , Baross A , Marra MA , Clifton S , Makowski KA , Bosak S , Malek J
Ref : Genome Res , 14 :2121 , 2004
Abstract :
PubMedSearch : Gerhard_2004_Genome.Res_14_2121
PubMedID: 15489334
Gene_locus related to this paper: human-AFMID , human-CES4A , human-CES5A , human-NOTUM , human-SERAC1 , human-SERHL2 , human-TMEM53 , mouse-acot1 , mouse-adcl4 , mouse-Ces2f , mouse-Ces4a , mouse-notum , mouse-q6wqj1 , mouse-Q9DAI6 , mouse-rbbp9 , mouse-SERHL , mouse-srac1 , mouse-tmm53 , rat-abhd6 , rat-abhda , rat-abhea , rat-abheb , rat-Ldah , rat-cd029 , rat-estd , rat-Kansl3 , rat-nceh1 , ratno-acph , ratno-CMBL , mouse-b2rwd2 , rat-b5den3 , rat-ab17c , human-cb069