SPEF2 - sperm flagellar 2-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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79925 SPEF2

基因描述

Type	Description
Definition	sperm flagellar 2

研究结论

Date	Results	Publications
2020-09-05 13:54:00	Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype.	31278745
2020-08-01 12:01:00	In individuals with primary ciliary dyskinesia and central pair defects, the CP-associated protein SPEF2 is absent in HYDIN-mutant cells. 41 of 189 individuals had undetectable SPEF2 and were subjected to a genetic analysis, which revealed one novel loss-of-function mutation in SPEF2 and 3 reported and 13 novel HYDIN mutations in 15 individuals. A mutation of SPEF2 is causative for PCD with a CP defect.	31545650
2020-06-20 12:49:00	Loss-of-function mutations in the SPEF2 gene can cause the Multiple morphological abnormalities of the sperm flagella (MMAF) phenotype in human.	31151990
2020-06-13 11:30:00	SPEF2 is a novel gene for human MMAF (multiple morphological abnormalities of the sperm flagella) across the populations. Functional analyses suggested that the deficiency of SPEF2 in the mutated subjects could alter the localisation of other axonemal proteins.	31048344
2020-02-08 11:37:00	Mutations in SPEF2 are associated with multiple morphological abnormalities of the sperm flagella and primary ciliary dyskinesia.	31942643

名称对应

Type	IDs
Synonymous	CT122, KPL2
Gene	UniProtKB-ID: SPEF2_HUMAN, A0A140VKD0_HUMAN UniprotKB: Q9C093, A0A140VKD0 UniParc: UPI0001596A15, UPI000013E865, UPI0001505B9F, UPI00000705DD EMBL: BC110984, AB051557, AK026817, AK058124, HM005670, AK027230 Ensembl: ENSG00000152582 KO: hsa:79925
Nucleutide sequences	EMBL-CDS: BAB15563.1, BAB21861.1, BAB15700.1, BAB71674.1, AAI10985.1, AEE61267.1 Ensembl_TRS: ENST00000282469, ENST00000440995, ENST00000356031
Protein sequencees	Ensembl_PRO: ENSP00000412125, ENSP00000282469, ENSP00000348314 RefSeq: NP_079143.3, XP_011512438.1, XP_011512439.1, XP_011512441.1, XP_005248434.1, XP_016865370.1, XP_024301987.1, XP_011512442.1, XP_005248433.1, XP_016865371.1, XP_016865369.1, XP_011512440.1, XP_011512437.1, NP_653323.1, XP_011512443.1, XP_005248435.1
Others	UniRef100: UniRef100_Q9C093 UniRef90: UniRef90_Q9C093 UniRef50: UniRef50_Q8C9J3 UniGene: Hs.298863 CCDS: CCDS43309.1, CCDS3910.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
31545650	SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics. Am. J. Respir. Cell Mol. Biol. Sandra CindriÄ , Gerard W Dougherty , Heike Olbrich , Rim Hjeij , Niki Tomas Loges , Israel Amirav , Maria C Philipsen , June K Marthin , Kim G Nielsen , Sivagurunathan Sutharsan , Johanna Raidt , Claudius Werner , Petra Pennekamp , Bernd Dworniczak , Heymut Omran	2020-03-01	-
31942643	Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD. Hum Genet Chaofeng Tu , Hongchuan Nie , Lanlan Meng , Weili Wang , Haiyu Li , Shimin Yuan , Dehua Cheng , Wenbin He , Gang Liu , Juan Du , Fei Gong , Guangxiu Lu , Ge Lin , Qianjun Zhang , Yue-Qiu Tan	2020-02-01	-
31048344	Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility. J. Med. Genet. Chunyu Liu , Mingrong Lv , Xiaojin He , Yong Zhu , Amir Amiri-Yekta , Weiyu Li , Huan Wu , Zine-Eddine Kherraf , Wangjie Liu , Jingjing Zhang , Qing Tan , Shuyan Tang , Yong-Jun Zhu , Yading Zhong , Caihua Li , Shixiong Tian , Zhiguo Zhang , Li Jin , Pierre Ray , Feng Zhang , Yunxia Cao	2020-01-01	-
31278745	Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype. Yanwei Sha , Wensheng Liu , Xiaoli Wei , Xingshen Zhu , Xiangmin Luo , Lei Liang , Tonghang Guo	2019-11-01	-
31151990	Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF). J. Med. Genet. Wensheng Liu , Yanwei Sha , Yang Li , Libin Mei , Shaobin Lin , Xianjing Huang , Jinhua Lu , Lu Ding , Shuangbo Kong , Zhongxian Lu	2019-10-01	-
30021884	Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck	2018-10-01	-
27337956	Yeast two-hybrid screening identified WDR77 as a novel interacting partner of TSC22D2. Tumour Biol. Qiao Li , Pan Chen , Zhaoyang Zeng , Fang Liang , Yali Song , Fang Xiong , Xiayu Li , Zhaojian Gong , Ming Zhou , Bo Xiang , Cong Peng , Xiaoling Li , Xiang Chen , Guiyuan Li , Wei Xiong	2016-09-01	-
23648065	Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. Cancer Sci. Siew-Kee Low , Suyoun Chung , Atsushi Takahashi , Hitoshi Zembutsu , Taisei Mushiroda , Michiaki Kubo , Yusuke Nakamura	2013-08-01	LOC100129345, LOC100129620, SNAP25-AS1, LOC100131425, LOC100131680, GNG12-AS1, MIR2113, LOC100420587, LOC100421527, LOC100505995, LOC100506098, LOC101928667, LOC101929200, LOC101929241, LOC102723507, VAV3, AGR2, ME3, PRSS23, ATP6V1G3, CHODL, LOC151121, DAB2IP, ADAMTS18, SRSF10P2, EBF1, ESRRG, GSX1, GPC5, MLXIP, FOXI1, FLNB, KIAA0922, KAZN, LRRC8B, OSBP2, FSHR, ALPL, AKNAD1, GALC, ULK3, LRIG1, FAM50B, SIT1, PRTG, LOC284294, SCARA5, GRM7, HOXC13, MACC1, FTCDNL1, RPS16P2, MATN2, RPL36AP45, CRYL1, PDE4D, HMP19, SERPINE2, PLCG2, TMEM106B, FGD6, ERGIC1, ALPK3, RXRA, PRDM1, LHPP, CSMD1, RPL13AP3, LOC651644, SLC13A1, TRA, TNFRSF1A, ZNF236, SPEF2, DENND1C, WLS, CMIP, APOL3, PTPN5, GAS7, RAB9BP1, ARHGAP18, NCOR2, ZNF536, ARHGAP44, HS3ST2
22199357	Cytoplasmic Metadherin (MTDH) provides survival advantage under conditions of stress by acting as RNA-binding protein. J Biol Chem Xiangbing Meng , Danlin Zhu , Shujie Yang , Xinjun Wang , Zhi Xiong , Yuping Zhang , Pavla Brachova , Kimberly K Leslie	2012-02-10	-
21873635	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas	2011-09-01	-

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