Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	28952
Gene name Gene Name - the full gene name approved by the HGNC.	CCC complex scaffolding subunit CCDC22
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CCDC22
Synonyms (NCBI Gene) Gene synonyms aliases	CXorf37, JM1, RTSC2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	RTSC2
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp11.23
Summary Summary of gene provided in NCBI Entrez Gene.	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) pr

Show/Hide all(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140735182	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs143790434	C>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs147222955	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs199809018	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs863225428	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863225429	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant

Show/Hide all(21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023813	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT040693	hsa-miR-92b-3p	CLASH	23622248
MIRT038882	hsa-miR-93-3p	CLASH	23622248
MIRT868652	hsa-miR-1207-5p	CLIP-seq
MIRT868653	hsa-miR-1909	CLIP-seq
MIRT868654	hsa-miR-4697-3p	CLIP-seq
MIRT868655	hsa-miR-4763-3p	CLIP-seq
MIRT1957762	hsa-miR-214	CLIP-seq
MIRT1957763	hsa-miR-3619-5p	CLIP-seq
MIRT1957764	hsa-miR-4459	CLIP-seq
MIRT1957765	hsa-miR-4722-5p	CLIP-seq
MIRT1957766	hsa-miR-761	CLIP-seq
MIRT2194808	hsa-miR-1184	CLIP-seq
MIRT2194809	hsa-miR-4418	CLIP-seq
MIRT2194810	hsa-miR-509-3-5p	CLIP-seq
MIRT2194811	hsa-miR-509-5p	CLIP-seq
MIRT868652	hsa-miR-1207-5p	CLIP-seq
MIRT868653	hsa-miR-1909	CLIP-seq
MIRT2498109	hsa-miR-296-3p	CLIP-seq
MIRT868654	hsa-miR-4697-3p	CLIP-seq
MIRT868655	hsa-miR-4763-3p	CLIP-seq

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23563313, 25355947, 25416956, 26496610, 28514442, 28892079, 30833792, 32296183
GO:0005575	Component	Cellular_component	ND
GO:0005654	Component	Nucleoplasm	TAS
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006878	Process	Cellular copper ion homeostasis	IMP	25355947
GO:0006893	Process	Golgi to plasma membrane transport	IMP	25355947
GO:0007253	Process	Cytoplasmic sequestering of NF-kappaB	IMP	23563313
GO:0015031	Process	Protein transport	IEA
GO:0016567	Process	Protein ubiquitination	TAS
GO:0032456	Process	Endocytic recycling	IMP	28892079
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IMP	23563313
GO:0043124	Process	Negative regulation of I-kappaB kinase/NF-kappaB signaling	IMP	23563313
GO:0043687	Process	Post-translational protein modification	TAS
GO:0097602	Function	Cullin family protein binding	IBA	21873635
GO:0097602	Function	Cullin family protein binding	IDA	23563313
GO:1990126	Process	Retrograde transport, endosome to plasma membrane	IMP	28892079
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IBA	21873635
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IMP	23563313

MIM	HGNC	e!Ensembl
300859	28909	ENSG00000101997

Protein

UniProt ID

O60826

Protein name

Coiled-coil domain-containing protein 22

Protein function

Component of the commander complex that is essential for endosomal recycling of transmembrane cargos; the Commander complex is composed of composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:38459129). Component

PDB

8F2U , 8P0V , 8P0W , 8P0X

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05667	DUF812	1 → 597	Protein of unknown function (DUF812)	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in adult tissues and in fetal liver and brain, with highest levels in prostate and lowest in skeletal muscle. {ECO:0000269|PubMed:21826058}.

Sequence

MEEADRILIHSLRQAGTAVPPDVQTLRAFTTELVVEAVVRCLRVINPAVGSGLSPLLPLA
MSARFRLAMSLAQACMDLGYPLELGYQNFLYPSEPDLRDLLLFLAERLPTDASEDADQPA
GDSAILLRAIGSQIRDQLALPWVPPHLRTPKLQHLQGSALQKPFHASRLVVPELSSRGEP
REFQASPLLLPVPTQVPQPVGRVASLLEHHALQLCQQTGRDRPGDEDWVHRTSRLPPQED
TRAQRQRLQKQLTEHLRQSWGLLGAPIQARDLGELLQAWGAGAKTGAPKGSRFTHSEKFT
FHLEPQAQATQVSDVPATSRRPEQVTWAAQEQELESLREQLEGVNRSIEEVEADMKTLGV
SFVQAESECRHSKLSTAEREQALRLKSRAVELLPDGTANLAKLQLVVENSAQRVIHLAGQ
WEKHRVPLLAEYRHLRKLQDCRELESSRRLAEIQELHQSVRAAAEEARRKEEVYKQLMSE
LETLPRDVSRLAYTQRILEIVGNIRKQKEEITKILSDTKELQKEINSLSGKLDRTFAVTD
ELVFKDAKKDDAVRKAYKYLAALHENCSQLIQTIEDTGTIMREVRDLEEQIETELGKKTL
SNLEKIREDYRALRQENAGLLGRVREA

Sequence length

627

Interactions

View interactions

	Reactome
			Neddylation

Show/Hide Causal Diseases (16)

Disease term	Disease name	dbSNP ID	References
Causal
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hypoplastic left heart syndrome	Hypoplastic Left Heart Syndrome	rs1554284604, rs1843006535
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Ritscher-schinzel syndrome	RITSCHER-SCHINZEL SYNDROME 2	rs398123007, rs863225428, rs863225429, rs1554593901	24916641, 23563313, 21826058
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 View all (1 more)
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Epilepsy	epilepsy			GenCC

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining
3C syndrome	Associate	24916641
Abortion Habitual	Associate	35767890
Alopecia	Associate	23196741
Alopecia Areata	Associate	23196741
Autoimmune Diseases	Associate	27888057
Crohn Disease	Associate	30710380
Diabetes Mellitus Type 2	Associate	27888057
Diabetic Nephropathies	Associate	36717877
Endometriosis	Associate	28470452
Genetic Diseases X Linked	Associate	24916641
Intellectual Disability	Associate	23563313, 23871722, 24916641
Lupus Erythematosus Systemic	Associate	27888057, 35767890
Multiple Sclerosis	Associate	27888057
Muscular dystrophy congenital with central nervous system involvement	Associate	35767890
Papilloma	Associate	35322929
Psoriasis	Associate	27888057
Uterine Cervical Neoplasms	Associate	35322929
Vitiligo	Associate	27888057

CCDC22 (CCC complex scaffolding subunit CCDC22)