CARMIL2 - capping protein regulator and myosin 1 linker 2-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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146206 CARMIL2

基因描述

Type	Description
Definition	capping protein regulator and myosin 1 linker 2

研究结论

Date	Results	Publications
2021-01-16 15:53:00	Synaptic actin stabilization protein loss in Down syndrome and Alzheimer disease.	31410926
2020-10-24 14:08:00	Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation.	32201938
2020-07-11 11:29:00	this study reports three patients with a recently described combined immunodeficiency disorder, CARMIL2-deficiency, bearing a novel homozygous mutation on splice-acceptor site region on CARMIL2-gene	31001706
2020-06-20 11:52:00	This case provides evidence that CARMIL2 should be a candidate gene when diagnosing children with very early onset inflammatory and eosinophilic gastrointestinal disorders, even when signs of immunodeficiency are not observed.	31079270
2020-05-30 12:53:00	The study highlights that human CARMIL2 deficiency can manifest with inflammatory bowel diseases (IBD)-like symptoms.	31115454

名称对应

Type	IDs
Synonymous	CARMIL2b, IMD58, LRRC16C, RLTPR
Gene	UniProtKB-ID: CARL2_HUMAN UniprotKB: Q6F5E8 UniParc: UPI00005194F2, UPI000189A671 EMBL: AC010530, AC009095, FJ026014, AB113647 Ensembl: ENSG00000159753 KO: hsa:146206
Nucleutide sequences	EMBL-CDS: ACI49710.1, BAD26751.1 Ensembl_TRS: ENST00000334583, ENST00000545661
Protein sequencees	Ensembl_PRO: ENSP00000441481, ENSP00000334958 RefSeq: XP_011521176.1, NP_001013860.1, NP_001303955.1, XP_016878442.1, XP_011521177.2
Others	UniRef100: UniRef100_Q6F5E8 UniRef90: UniRef90_Q6F5E8 UniRef50: UniRef50_Q6F5E8 UniGene: Hs.611432 CCDS: CCDS81998.1, CCDS45513.1

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mRNA

Protein

UniprotKB

Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
32201938	Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation. Clin Exp Immunol O Shamriz , A J Simon , A Lev , O Megged , O Ledder , E Picard , L Joseph , V Molho-Pessach , Y Tal , P Millman , M Slae , R Somech , O Toker , M Berger	2020-06-01	-
31410926	Synaptic actin stabilization protein loss in Down syndrome and Alzheimer disease. Brain Pathol Julie C Lauterborn , Conor D Cox , See Wing Chan , Peter W Vanderklish , Gary Lynch , Christine M Gall	2020-03-01	-
31115454	CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease. Inflamm Bowel Dis Thomas Magg , Anna Shcherbina , Duran Arslan , Mukesh M Desai , Sarah Wall , Vanessa Mitsialis , Raffaele Conca , Ekrem Unal , Neslihan Karacabey , Anna Mukhina , Yulia Rodina , Prasad D Taur , David Illig , Benjamin Marquardt , Sebastian Hollizeck , Tim Jeske , Florian Gothe , Tilmann Schober , Meino Rohlfs , Sibylle Koletzko , Eberhard Lurz , Aleixo M Muise , Scott B Snapper , Fabian Hauck , Christoph Klein , Daniel Kotlarz	2019-10-18	-
31079270	A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant. J Clin Immunol Alina Kurolap , Orly Eshach Adiv , Liza Konnikova , Lael Werner , Claudia Gonzaga-Jauregui , Maya Steinberg , Vanessa Mitsialis , Adi Mory , Moran Y Nunberg , Sarah Wall , Ron Shaoul , John D Overton , Regeneron Genetics Center , Alan R Shuldiner , Yaniv Zohar , Tamar Paperna , Scott B Snapper , Dror S Shouval , Hagit Baris Feldman	2019-05-01	-
31001706	A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency. J Clin Immunol Faranaz Atschekzei , Roland Jacobs , Martin Wetzke , Georgios Sogkas , Claudia SchrÃ¶der , Gerrit Ahrenstorf , Akshay Dhingra , Hagen Ott , Ulrich Baumann , Reinhold Ernst Schmidt	2019-04-01	-
30639242	The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. Mol. Cell Joanna R Kovalski , Aparna Bhaduri , Ashley M Zehnder , Poornima H Neela , Yonglu Che , Glenn G Wozniak , Paul A Khavari	2019-02-21	-
28223207	"Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares etÂ al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations. Eur J Med Genet NatÃ¡lia D Linhares , MaÃra C M Freire , Raony G C C L Cardenas , HeloÃsa B Pena , Magda Bahia , Sergio D J Pena	2018-02-01	-
28694326	Genomic analysis of 220 CTCLs identifies a novel recurrent gain-of-function alteration in RLTPR (p.Q575E). Blood Joonhee Park , Jingyi Yang , Alexander T Wenzel , Akshaya Ramachandran , Wung J Lee , Jay C Daniels , Juhyun Kim , Estela Martinez-Escala , Nduka Amankulor , Barbara Pro , Joan Guitart , Marc L Mendillo , Jeffrey N Savas , Titus J Boggon , Jaehyuk Choi	2017-09-21	-
28514442	Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper	2017-05-25	-
28112205	A human immunodeficiency syndrome caused by mutations in CARMIL2. Nat Commun T Schober , T Magg , M Laschinger , M Rohlfs , N D Linhares , J Puchalka , T Weisser , K Fehlner , J Mautner , C Walz , K Hussein , G Jaeger , B Kammer , I Schmid , M Bahia , S D Pena , U Behrends , B H Belohradsky , C Klein , F Hauck	2017-01-23	-

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