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.	23310
Gene name Gene Name - the full gene name approved by the HGNC.	Non-SMC condensin II complex subunit D3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NCAPD3
Synonyms (NCBI Gene) Gene synonyms aliases	CAP-D3, CAPD3, MCPH22, hCAP-D3, hHCP-6, hcp-6
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q25
Summary Summary of gene provided in NCBI Entrez Gene.	Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1350194762	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs1555139372	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555143325	T>C	Pathogenic	Intron variant

Show/Hide all(82)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023702	hsa-miR-1-3p	Proteomics	18668040
MIRT045217	hsa-miR-186-5p	CLASH	23622248
MIRT044595	hsa-miR-320a	CLASH	23622248
MIRT525944	hsa-miR-6715a-3p	PAR-CLIP	22012620
MIRT525942	hsa-miR-6729-3p	PAR-CLIP	22012620
MIRT525943	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT525944	hsa-miR-6715a-3p	PAR-CLIP	22012620
MIRT525942	hsa-miR-6729-3p	PAR-CLIP	22012620
MIRT525943	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT1175787	hsa-miR-105	CLIP-seq
MIRT1175788	hsa-miR-142-5p	CLIP-seq
MIRT1175789	hsa-miR-3197	CLIP-seq
MIRT1175790	hsa-miR-338-5p	CLIP-seq
MIRT1175791	hsa-miR-3671	CLIP-seq
MIRT1175792	hsa-miR-3689a-3p	CLIP-seq
MIRT1175793	hsa-miR-3689c	CLIP-seq
MIRT1175794	hsa-miR-4456	CLIP-seq
MIRT1175795	hsa-miR-4638-3p	CLIP-seq
MIRT1175796	hsa-miR-4694-3p	CLIP-seq
MIRT1175797	hsa-miR-4728-5p	CLIP-seq
MIRT1175798	hsa-miR-541	CLIP-seq
MIRT1175799	hsa-miR-561	CLIP-seq
MIRT1175800	hsa-miR-607	CLIP-seq
MIRT1175801	hsa-miR-654-5p	CLIP-seq
MIRT1175787	hsa-miR-105	CLIP-seq
MIRT2050907	hsa-miR-125a-5p	CLIP-seq
MIRT2050908	hsa-miR-125b	CLIP-seq
MIRT2050909	hsa-miR-28-5p	CLIP-seq
MIRT2050910	hsa-miR-3117-5p	CLIP-seq
MIRT2050911	hsa-miR-3120-3p	CLIP-seq
MIRT2050912	hsa-miR-3139	CLIP-seq
MIRT2050913	hsa-miR-3150b-3p	CLIP-seq
MIRT2050914	hsa-miR-3154	CLIP-seq
MIRT1175791	hsa-miR-3671	CLIP-seq
MIRT2050915	hsa-miR-3675-3p	CLIP-seq
MIRT2050916	hsa-miR-3676	CLIP-seq
MIRT2050917	hsa-miR-3692	CLIP-seq
MIRT2050918	hsa-miR-4319	CLIP-seq
MIRT2050919	hsa-miR-4645-3p	CLIP-seq
MIRT2050920	hsa-miR-4689	CLIP-seq
MIRT1175796	hsa-miR-4694-3p	CLIP-seq
MIRT2050921	hsa-miR-4755-3p	CLIP-seq
MIRT2050922	hsa-miR-4784	CLIP-seq
MIRT2050923	hsa-miR-4795-3p	CLIP-seq
MIRT2050924	hsa-miR-485-3p	CLIP-seq
MIRT2050925	hsa-miR-487a	CLIP-seq
MIRT2050926	hsa-miR-499-3p	CLIP-seq
MIRT2050927	hsa-miR-499a-3p	CLIP-seq
MIRT2050928	hsa-miR-514	CLIP-seq
MIRT2050929	hsa-miR-514b-3p	CLIP-seq
MIRT2050930	hsa-miR-544b	CLIP-seq
MIRT1175800	hsa-miR-607	CLIP-seq
MIRT2050931	hsa-miR-708	CLIP-seq
MIRT2050932	hsa-miR-765	CLIP-seq
MIRT2279998	hsa-miR-1297	CLIP-seq
MIRT2279999	hsa-miR-26a	CLIP-seq
MIRT2280000	hsa-miR-26b	CLIP-seq
MIRT2280001	hsa-miR-3153	CLIP-seq
MIRT2050915	hsa-miR-3675-3p	CLIP-seq
MIRT2280002	hsa-miR-4465	CLIP-seq
MIRT2050919	hsa-miR-4645-3p	CLIP-seq
MIRT2280003	hsa-miR-4668-5p	CLIP-seq
MIRT2050923	hsa-miR-4795-3p	CLIP-seq
MIRT2050928	hsa-miR-514	CLIP-seq
MIRT2050929	hsa-miR-514b-3p	CLIP-seq
MIRT2391412	hsa-miR-1254	CLIP-seq
MIRT2391413	hsa-miR-1976	CLIP-seq
MIRT2391414	hsa-miR-3116	CLIP-seq
MIRT2050915	hsa-miR-3675-3p	CLIP-seq
MIRT2391415	hsa-miR-3690	CLIP-seq
MIRT1175795	hsa-miR-4638-3p	CLIP-seq
MIRT2050919	hsa-miR-4645-3p	CLIP-seq
MIRT2391416	hsa-miR-4722-3p	CLIP-seq
MIRT2391417	hsa-miR-4763-5p	CLIP-seq
MIRT2050923	hsa-miR-4795-3p	CLIP-seq
MIRT2050924	hsa-miR-485-3p	CLIP-seq
MIRT2050925	hsa-miR-487a	CLIP-seq
MIRT2050926	hsa-miR-499-3p	CLIP-seq
MIRT2050927	hsa-miR-499a-3p	CLIP-seq
MIRT2050928	hsa-miR-514	CLIP-seq
MIRT2050929	hsa-miR-514b-3p	CLIP-seq
MIRT2391418	hsa-miR-661	CLIP-seq

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000280	Process	Nuclear division	IEA
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000779	Component	Condensed chromosome, centromeric region	IBA
GO:0000794	Component	Condensed nuclear chromosome	ISO
GO:0000796	Component	Condensin complex	IBA
GO:0000796	Component	Condensin complex	IDA	14532007
GO:0000796	Component	Condensin complex	IEA
GO:0000796	Component	Condensin complex	NAS	17268547
GO:0005515	Function	Protein binding	IPI	17268547, 23728299, 26496610, 29028794, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005721	Component	Pericentric heterochromatin	IDA	20551165
GO:0006325	Process	Chromatin organization	IEA
GO:0007076	Process	Mitotic chromosome condensation	IBA
GO:0007076	Process	Mitotic chromosome condensation	IDA	14532007
GO:0007076	Process	Mitotic chromosome condensation	IEA
GO:0007076	Process	Mitotic chromosome condensation	IMP	27737959
GO:0010032	Process	Meiotic chromosome condensation	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030261	Process	Chromosome condensation	IEA
GO:0031981	Component	Nuclear lumen	IEA
GO:0042393	Function	Histone binding	IBA
GO:0051301	Process	Cell division	IEA
GO:0051984	Process	Positive regulation of chromosome segregation	ISO
GO:0098813	Process	Nuclear chromosome segregation	IEA
GO:0140117	Function	Histone H4K20me1 reader activity	IDA	20622854
GO:1905820	Process	Positive regulation of chromosome separation	ISO
GO:1905821	Process	Positive regulation of chromosome condensation	ISS

MIM	HGNC	e!Ensembl
609276	28952	ENSG00000151503

Protein

UniProt ID

P42695

Protein name

Condensin-2 complex subunit D3 (Non-SMC condensin II complex subunit D3) (hCAP-D3)

Protein function

Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis (PubMed:14532007). May promote the resolution of double-strand DNA catenanes (i

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12717	Cnd1	956 → 1134	non-SMC mitotic condensation complex subunit 1	Family

Sequence

MVALRGLGSGLQPWCPLDLRLEWVDTVWELDFTETEPLDPSIEAEIIETGLAAFTKLYES
LLPFATGEHGSMESIWTFFIENNVSHSTLVALFYHFVQIVHKKNVSVQYREYGLHAAGLY
FLLLEVPGSVANQVFHPVMFDKCIQTLKKSWPQESNLNRKRKKEQPKSSQANPGRHRKRG
KPPRREDIEMDEIIEEQEDENICFSARDLSQIRNAIFHLLKNFLRLLPKFSLKEKPQCVQ
NCIEVFVSLTNFEPVLHECHVTQARALNQAKYIPELAYYGLYLLCSPIHGEGDKVISCVF
HQMLSVILMLEVGEGSHRAPLAVTSQVINCRNQAVQFISALVDELKESIFPVVRILLQHI
CAKVVDKSEYRTFAAQSLVQLLSKLPCGEYAMFIAWLYKYSRSSKIPHRVFTLDVVLALL
ELPEREVDNTLSLEHQKFLKHKFLVQEIMFDRCLDKAPTVRSKALSSFAHCLELTVTSAS
ESILELLINSPTFSVIESHPGTLLRNSSAFSYQRQTSNRSEPSGEINIDSSGETVGSGER
CVMAMLRRRIRDEKTNVRKSALQVLVSILKHCDVSGMKEDLWILQDQCRDPAVSVRKQAL
QSLTELLMAQPRCVQIQKAWLRGVVPVVMDCESTVQEKALEFLDQLLLQNIRHHSHFHSG
DDSQVLAWALLTLLTTESQELSRYLNKAFHIWSKKEKFSPTFINNVISHTGTEHSAPAWM
LLSKIAGSSPRLDYSRIIQSWEKISSQQNPNSNTLGHILCVIGHIAKHLPKSTRDKVTDA
VKCKLNGFQWSLEVISSAVDALQRLCRASAETPAEEQELLTQVCGDVLSTCEHRLSNIVL
KENGTGNMDEDLLVKYIFTLGDIAQLCPARVEKRIFLLIQSVLASSADADHSPSSQGSSE
APASQPPPQVRGSVMPSVIRAHAIITLGKLCLQHEDLAKKSIPALVRELEVCEDVAVRNN
VIIVMCDLCIRYTIMVDKYIPNISMCLKDSDPFIRKQTLILLTNLLQEEFVKWKGSLFFR
FVSTLIDSHPDIASFGEFCLAHLLLKRNPVMFFQHFIECIFHFNNYEKHEKYNKFPQSER
EKRLFSLKGKSNKERRMKIYKFLLEHFTDEQRFNITSKICLSILACFADGILPLDLDASE
LLSDTFEVLSSKEIKLLAMRSKPDKDLLMEEDDMALANVVMQEAQKKLISQVQKRNFIEN
IIPIIISLKTVLEKNKIPALRELMHYLREVMQDYRDELKDFFAVDKQLASELEYDMKKYQ
EQLVQEQELAKHADVAGTAGGAEVAPVAQVALCLETVPVPAGQENPAMSPAVSQPCTPRA
SAGHVAVSSPTPETGPLQRLLPKARPMSLSTIAILNSVKKAVESKSRHRSRSLGVLPFTL
NSGSPEKTCSQVSSYSLEQESNGEIEHVTKRAISTPEKSISDVTFGAGVSYIGTPRTPSS
AKEKIEGRSQGNDILCLSLPDKPPPQPQQWNVRSPARNKDTPACSRRSLRKTPLKTAN

Sequence length

1498

Interactions

View interactions

	Reactome
			Condensation of Prophase Chromosomes

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Microcephaly	microcephaly 22, primary, autosomal recessive	rs1555139372, rs1555143325, rs1350194762	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Pancreatic cancer	Pancreatic cancer	N/A	N/A	GWAS

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Bacterial Infections	Associate	25701737
Breast Neoplasms	Associate	37457713
Colitis Ulcerative	Inhibit	25701737
Colitis Ulcerative	Associate	31885422
Inflammation	Associate	31885422
Thymoma	Associate	30787364

NCAPD3 (non-SMC condensin II complex subunit D3)