CCDC22 - coiled-coil domain containing 22 Gene

中文名称：含卷曲螺旋结构域 22

种属: Homo sapiens

同用名: JM1; RTSC2; CXorf37

基因 ID: 28952 | 基因类型: protein coding

关于 CCDC22

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:49,235,470-49,250,520 (from NCBI)

This gene has 3 transcripts (splice variants), 197 orthologues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 9.7), lymph node (RPKM 7.9) and 25 other tissues.

功能概要

该基因编码一种含有卷曲螺旋结构域的蛋白质。编码的蛋白质通过与 COMMD (含铜代谢 Murr1 结构域) 蛋白质相互作用来调节 NF-kB (活化 B 细胞的核因子 kappa-轻链增强子) 。小鼠直系同源蛋白已被证明可以结合 copines，copines 是钙依赖性膜结合蛋白，可能在钙信号传导中发挥作用。该人类基因已被确定为 X 连锁智力障碍综合征的新型候选基因。[RefSeq 提供，2013 年 8 月]

This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013]

CCDC22 基因产物(1)

mRNA	Protein	Name
NM_014008.5	NP_054727.1	coiled-coil domain-containing protein 22

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables cullin family protein binding	IDA IDA: 通过直接分析推断	23563313	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	23563313	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in Golgi to plasma membrane transport	IMP IMP: 通过突变表型推断	25355947	GOA
involved in cytoplasmic sequestering of NF-kappaB	IMP IMP: 通过突变表型推断	23563313	GOA
involved in endocytic recycling	IMP IMP: 通过突变表型推断	28892079	GOA
involved in intracellular copper ion homeostasis	IMP IMP: 通过突变表型推断	25355947	GOA
involved in negative regulation of canonical NF-kappaB signal transduction	IMP IMP: 通过突变表型推断	23563313	GOA
involved in positive regulation of canonical NF-kappaB signal transduction	IMP IMP: 通过突变表型推断	23563313	GOA
involved in positive regulation of ubiquitin-dependent protein catabolic process	IMP IMP: 通过突变表型推断	23563313	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in centrosome	IDA IDA: 通过直接分析推断	26638075	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CCDC22 蛋白结构

DUF812

0
100
200
300
400
500
627 a.a.

蛋白主名

其他名称

coiled-coil domain-containing protein 22

CCDC22 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	Anti Tag CoIP	26496610
种属内	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	Anti Bait CoIP	25355947
种属内	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	Anti Tag CoIP	25355947
种属内	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	GMS	37172566
种属内	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	3D-EM	37172566
种属内	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	Anti Tag CoIP	33961781
种属内	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	IF	25355947
种属内	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	Anti Tag CoIP	28514442
种属内	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	GMS	29778605
种属内	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	Anti Tag CoIP	29778605
种属内	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	ITC	37172566
种属内	CCDC22	O60826	CCDC93	Homo sapiens	Q567U6	Anti Tag CoIP	35271311
种属内	CCDC22	O60826	COMMD4	Homo sapiens	Q9H0A8	Anti Tag CoIP	26496610
种属内	CCDC22	O60826	COMMD4	Homo sapiens	Q9H0A8	Anti Tag CoIP	35271311
种属内	CCDC22	O60826	COMMD4	Homo sapiens	Q9H0A8	Pull Down	23563313
种属内	CCDC22	O60826	COMMD4	Homo sapiens	Q9H0A8	GMS	37172566
种属内	CCDC22	O60826	COMMD4	Homo sapiens	Q9H0A8	3D-EM	37172566
种属内	CCDC22	O60826	COMMD4	Homo sapiens	Q9H0A8	Anti Tag CoIP	23563313
种属内	CCDC22	O60826	COMMD4	Homo sapiens	Q9H0A8	Anti Tag CoIP	33961781
种属内	CCDC22	O60826	COMMD4	Homo sapiens	Q9H0A8	Anti Tag CoIP	28514442
种属内	CCDC22	O60826	COMMD6	Homo sapiens	Q7Z4G1	Anti Tag CoIP	33961781
种属内	CCDC22	O60826	COMMD6	Homo sapiens	Q7Z4G1	GMS	37172566
种属内	CCDC22	O60826	COMMD6	Homo sapiens	Q7Z4G1	3D-EM	37172566
种属内	CCDC22	O60826	COMMD6	Homo sapiens	Q7Z4G1	Anti Tag CoIP	23563313
种属内	CCDC22	O60826	COMMD6	Homo sapiens	Q7Z4G1	Anti Tag CoIP	26496610
种属内	CCDC22	O60826	COMMD6	Homo sapiens	Q7Z4G1	Anti Tag CoIP	35271311
种属内	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	IF	25355947
种属内	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	GMS	29778605
种属内	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Tag CoIP	29778605
种属内	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Bait CoIP	23563313
种属内	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Pull Down	23563313
种属内	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Tag CoIP	35271311
种属内	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Tag CoIP	23563313
种属内	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Tag CoIP	37172566
种属内	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Bait CoIP	25355947
种属内	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Tag CoIP	25355947
种属内	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	GMS	37172566
种属内	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	3D-EM	37172566
种属内	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Tag CoIP	26496610
种属内	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Anti Tag CoIP	33961781
种属内	CCDC22	O60826	COMMD1	Homo sapiens	Q8N668	Confocal	23563313
种属内	CCDC22	O60826	COMMD2	Homo sapiens	Q86X83	Anti Tag CoIP	33961781
种属内	CCDC22	O60826	COMMD2	Homo sapiens	Q86X83	GMS	37172566
种属内	CCDC22	O60826	COMMD2	Homo sapiens	Q86X83	Anti Tag CoIP	35271311
种属内	CCDC22	O60826	COMMD2	Homo sapiens	Q86X83	Anti Tag CoIP	23563313
种属内	CCDC22	O60826	COMMD2	Homo sapiens	Q86X83	3D-EM	37172566
种属内	CCDC22	O60826	COMMD2	Homo sapiens	Q86X83	Anti Tag CoIP	26496610
种属内	CCDC22	O60826	COMMD5	Homo sapiens	Q9GZQ3	Anti Tag CoIP	23563313
种属内	CCDC22	O60826	COMMD5	Homo sapiens	Q9GZQ3	Anti Tag CoIP	35271311
种属内	CCDC22	O60826	COMMD5	Homo sapiens	Q9GZQ3	3D-EM	37172566
种属内	CCDC22	O60826	COMMD5	Homo sapiens	Q9GZQ3	Anti Tag CoIP	26496610
种属内	CCDC22	O60826	COMMD5	Homo sapiens	Q9GZQ3	Anti Tag CoIP	28514442
种属内	CCDC22	O60826	COMMD5	Homo sapiens	Q9GZQ3	Anti Tag CoIP	33961781
种属内	CCDC22	O60826	COMMD5	Homo sapiens	Q9GZQ3	GMS	37172566
种属内	CCDC22	O60826	COMMD7	Homo sapiens	Q86VX2	Anti Tag CoIP	35271311
种属内	CCDC22	O60826	COMMD7	Homo sapiens	Q86VX2	Anti Tag CoIP	23563313
种属内	CCDC22	O60826	COMMD7	Homo sapiens	Q86VX2	GMS	37172566
种属内	CCDC22	O60826	COMMD7	Homo sapiens	Q86VX2	3D-EM	37172566
种属内	CCDC22	O60826	COMMD7	Homo sapiens	Q86VX2	Anti Tag CoIP	33961781
种属内	CCDC22	O60826	COMMD10	Homo sapiens	Q9Y6G5	GMS	37172566
种属内	CCDC22	O60826	COMMD10	Homo sapiens	Q9Y6G5	Anti Tag CoIP	33961781
种属内	CCDC22	O60826	COMMD10	Homo sapiens	Q9Y6G5	Anti Bait CoIP	23563313
种属内	CCDC22	O60826	COMMD10	Homo sapiens	Q9Y6G5	Anti Tag CoIP	26496610
种属内	CCDC22	O60826	COMMD10	Homo sapiens	Q9Y6G5	3D-EM	37172566
种属内	CCDC22	O60826	COMMD10	Homo sapiens	Q9Y6G5	Anti Tag CoIP	35271311
种属内	CCDC22	O60826	COMMD10	Homo sapiens	Q9Y6G5	Anti Tag CoIP	23563313
种属内	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	Anti Tag CoIP	33961781
种属内	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	Anti Tag CoIP	28514442
种属内	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	Anti Tag CoIP	35271311
种属内	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	Anti Tag CoIP	23563313
种属内	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	Anti Bait CoIP	23563313
种属内	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	GMS	37172566
种属内	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	3D-EM	37172566
种属内	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	Anti Tag CoIP	26496610
种属内	CCDC22	O60826	COMMD9	Homo sapiens	Q9P000	Pull Down	23563313
种属内	CCDC22	O60826	ARSA	Homo sapiens	P15289	Y2H Prey Pooling	32296183
种属内	CCDC22	O60826	ARSA	Homo sapiens	P15289	Validated Y2H	32296183
种属内	CCDC22	O60826	ARSA	Homo sapiens	P15289	Y2H Array	32296183
种属内	CCDC22	O60826	WASHC2A	Homo sapiens	Q641Q2	Anti Bait CoIP	25355947
种属内	CCDC22	O60826	KRT27	Homo sapiens	Q7Z3Y8	Validated Y2H	32296183
种属内	CCDC22	O60826	KRT27	Homo sapiens	Q7Z3Y8	Y2H Array	32296183
种属内	CCDC22	O60826	KRT27	Homo sapiens	Q7Z3Y8	Y2H Prey Pooling	32296183
种属内	CCDC22	O60826	ACTG1	Homo sapiens	P63261	Y2H Prey Pooling	25416956
种属内	CCDC22	O60826	ACTG1	Homo sapiens	P63261	Y2H Array	25416956
种属内	CCDC22	O60826	CUL1	Homo sapiens	Q13616	Anti Bait CoIP	23563313
种属内	CCDC22	O60826	CUL1	Homo sapiens	Q13616	Anti Tag CoIP	23563313
种属内	CCDC22	O60826	CUL1	Homo sapiens	Q13616	Pull Down	23563313
种属内	CCDC22	O60826	CUL3	Homo sapiens	Q13618	Anti Bait CoIP	23563313
种属内	CCDC22	O60826	OIP5	Homo sapiens	O43482	Y2H Array	32296183
种属内	CCDC22	O60826	OIP5	Homo sapiens	O43482	Y2H Prey Pooling	32296183
种属内	CCDC22	O60826	COMMD3	Homo sapiens	Q9UBI1	Anti Tag CoIP	33961781
种属内	CCDC22	O60826	COMMD3	Homo sapiens	Q9UBI1	Anti Tag CoIP	23563313
种属内	CCDC22	O60826	COMMD3	Homo sapiens	Q9UBI1	Anti Tag CoIP	26496610
种属内	CCDC22	O60826	COMMD3	Homo sapiens	Q9UBI1	GMS	37172566
种属内	CCDC22	O60826	COMMD3	Homo sapiens	Q9UBI1	3D-EM	37172566
种属内	CCDC22	O60826	COMMD3	Homo sapiens	Q9UBI1	Pull Down	23563313
种属内	CCDC22	O60826	COMMD3	Homo sapiens	Q9UBI1	Anti Tag CoIP	28514442
种属内	CCDC22	O60826	COMMD8	Homo sapiens	Q9NX08	Anti Tag CoIP	35271311
种属内	CCDC22	O60826	COMMD8	Homo sapiens	Q9NX08	Anti Tag CoIP	23563313
种属内	CCDC22	O60826	COMMD8	Homo sapiens	Q9NX08	Anti Tag CoIP	33961781
种属内	CCDC22	O60826	COMMD8	Homo sapiens	Q9NX08	Anti Tag CoIP	26496610
种属内	CCDC22	O60826	COMMD8	Homo sapiens	Q9NX08	GMS	37172566
种属内	CCDC22	O60826	COMMD8	Homo sapiens	Q9NX08	3D-EM	37172566
种属内	CCDC22	O60826	COMMD8	Homo sapiens	Q9NX08	Pull Down	23563313
种属内	CCDC22	O60826	USHBP1	Homo sapiens	Q8N6Y0	Validated Y2H	25416956

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Ritscher-Schinzel Syndrome 2

RTSC2

Ritscher-Schinzel Syndrome 1

3c Syndrome	Craniocerebellocardiac Dysplasia
RTSC1	Dandy-Walker-Like Malformation With Atrioventricular Septal Defect
Dandy-Walker Like Malformation With Atrioventricular Septal Defect	Cranio-Cerebello-Cardiac Dysplasia
Dandy-Walker-Like Malformation With Asd	Ritscher Schinzel Syndrome
Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome	Ritscher-Schinzel Syndrome
3c

Ritscher-Schinzel Syndrome

3c Syndrome	Ccc Dysplasia
Craniocerebellocardiac Dysplasia	Cranio-Cerebello-Cardiac Dysplasia

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Mednik Syndrome	Erythrokeratodermia Variabilis 3
MEDNIK	Ekv3
Erythrokeratodermia Variabilis, Kamouraska Type	Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia
Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome	Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome
Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Erythrokeratodermia Variabilis Kamouraska Type
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS02039	CCDC22 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	CCDC22	RGD	RGD:1560910
Canis familiaris	CCDC22	VGNC	VGNC:38828
Bos taurus	CCDC22	VGNC	VGNC:26886
Mus musculus	CCDC22	MGD	MGI:1859608
Macaca mulatta	CCDC22	VGNC	VGNC:70899
Felis catus	CCDC22	VGNC	VGNC:60491

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