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CCDC22 (CCC complex scaffolding subunit CCDC22)
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 nameGene Name - the full gene name approved by the HGNC.
CCC complex scaffolding subunit CCDC22
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CCDC22
SynonymsGene synonyms aliases
CXorf37, JM1, RTSC2
ChromosomeChromosome number
X
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.23
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence
Sequence length 627
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Neddylation
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
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, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Unknown
Disease name Disease term dbSNP ID References
3c syndrome 3C syndrome 24916641
Aortic valve sclerosis Aortic Valve Stenosis
Cerebellar hypoplasia Cerebellar Hypoplasia
Clinodactyly Clinodactyly of fingers, Clinodactyly

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