• Gene id: 9918

Gene Summary

• Gene Symbol: NCAPD2   Gene   UCSC   Ensembl
• Aliases: CAP-D2, CNAP1, MCPH21, hCAP-D2
• Gene name: non-SMC condensin I complex subunit D2
• Alternate names: condensin complex subunit 1, XCAP-D2 homolog, chromosome condensation-related SMC-associated protein 1, chromosome-associated protein D2,
• Gene location: 12p13.31 (6494101: 6531954)     Exons: 32     NC_000012.12
• OMIM: 615086

Protein Summary

• Protein general information: Q15021  
  • Name: Condensin complex subunit 1 (Chromosome condensation related SMC associated protein 1) (Chromosome associated protein D2) (hCAP D2) (Non SMC condensin I complex subunit D2) (XCAP D2 homolog)
  • Length: 1401  
  • Mass: 157182
• Sequence:

  MAPQMYEFHLPLSPEELLKSGGVNQYVVQEVLSIKHLPPQLRAFQAAFRAQGPLAMLQHFDTIYSILHHFRSIDP
  GLKEDTLQFLIKVVSRHSQELPAILDDTTLSGSDRNAHLNALKMNCYALIRLLESFETMASQTNLVDLDLGGKGK
  KARTKAAHGFDWEEERQPILQLLTQLLQLDIRHLWNHSIIEEEFVSLVTGCCYRLLENPTINHQKNRPTREAITH
  LLGVALTRYNHMLSATVKIIQMLQHFEHLAPVLVAAVSLWATDYGMKSIVGEIVREIGQKCPQELSRDPSGTKGF
  AAFLTELAERVPAILMSSMCILLDHLDGENYMMRNAVLAAMAEMVLQVLSGDQLEAAARDTRDQFLDTLQAHGHD
  VNSFVRSRVLQLFTRIVQQKALPLTRFQAVVALAVGRLADKSVLVCKNAIQLLASFLANNPFSCKLSDADLAGPL
  QKETQKLQEMRAQRRTAAASAVLDPEEEWEAMLPELKSTLQQLLQLPQGEEEIPEQIANTETTEDVKGRIYQLLA
  KASYKKAIILTREATGHFQESEPFSHIDPEESEETRLLNILGLIFKGPAASTQEKNPRESTGNMVTGQTVCKNKP
  NMSDPEESRGNDELVKQEMLVQYLQDAYSFSRKITEAIGIISKMMYENTTTVVQEVIEFFVMVFQFGVPQALFGV
  RRMLPLIWSKEPGVREAVLNAYRQLYLNPKGDSARAKAQALIQNLSLLLVDASVGTIQCLEEILCEFVQKDELKP
  AVTQLLWERATEKVACCPLERCSSVMLLGMMARGKPEIVGSNLDTLVSIGLDEKFPQDYRLAQQVCHAIANISDR
  RKPSLGKRHPPFRLPQEHRLFERLRETVTKGFVHPDPLWIPFKEVAVTLIYQLAEGPEVICAQILQGCAKQALEK
  LEEKRTSQEDPKESPAMLPTFLLMNLLSLAGDVALQQLVHLEQAVSGELCRRRVLREEQEHKTKDPKEKNTSSET
  TMEEELGLVGATADDTEAELIRGICEMELLDGKQTLAAFVPLLLKVCNNPGLYSNPDLSAAASLALGKFCMISAT
  FCDSQLRLLFTMLEKSPLPIVRSNLMVATGDLAIRFPNLVDPWTPHLYARLRDPAQQVRKTAGLVMTHLILKDMV
  KVKGQVSEMAVLLIDPEPQIAALAKNFFNELSHKGNAIYNLLPDIISRLSDPELGVEEEPFHTIMKQLLSYITKD
  KQTESLVEKLCQRFRTSRTERQQRDLAYCVSQLPLTERGLRKMLDNFDCFGDKLSDESIFSAFLSVVGKLRRGAK
  PEGKAIIDEFEQKLRACHTRGLDGIKELEIGQAGSQRAPSAKKPSTGSRYQPLASTASDNDFVTPEPRRTTRRHP
  NTQQRASKKKPKVVFSSDESSEEDLSAEMTEDETPKKTTPILRASARRHRS

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR026971  IPR032682  IPR007673   IPR024324  
  • STRING: ENSP00000325017
• Other Databases: GeneCards:  NCAPD2  Malacards:  NCAPD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000799	nuclear condensin complex	IBA	cellular component
GO:0003682	chromatin binding	IBA	molecular function
GO:0007076	mitotic chromosome condensation	IBA	biological process
GO:0010032	meiotic chromosome condensation	IBA	biological process
GO:0042393	histone binding	IBA	molecular function
GO:0000779	condensed chromosome, centromeric region	IBA	cellular component
GO:0051304	chromosome separation	IBA	biological process
GO:0007076	mitotic chromosome condensation	IMP	biological process
GO:0000278	mitotic cell cycle	IEA	biological process
GO:0007076	mitotic chromosome condensation	IEA	biological process
GO:0030261	chromosome condensation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0030261	chromosome condensation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0000793	condensed chromosome	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0042393	histone binding	IDA	molecular function
GO:0007076	mitotic chromosome condensation	IDA	biological process
GO:0000796	condensin complex	IDA	cellular component
GO:0000796	condensin complex	IDA	cellular component
GO:0000228	nuclear chromosome	IDA	colocalizes with
GO:0005737	cytoplasm	IDA	colocalizes with
GO:0005515	protein binding	IPI	molecular function
GO:0000797	condensin core heterodimer	NAS	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0042393	histone binding	NAS	molecular function
GO:0007076	mitotic chromosome condensation	NAS	biological process
GO:0005737	cytoplasm	NAS	cellular component
GO:0005634	nucleus	NAS	cellular component

Diseases

Associated diseases	References
Primary microcephaly	KEGG:H00269
Primary microcephaly	KEGG:H00269
Hypospermatogenesis	MIK: 28361989
Male infertility	MIK: 29961538
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray