Gene Gene information from NCBI Gene database.
Entrez ID 9918
Gene name Non-SMC condensin I complex subunit D2
Gene symbol NCAPD2
Synonyms (NCBI Gene)
CAP-D2CNAP1MCPH21hCAP-D2
Chromosome 12
Chromosome location 12p13.31
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs143795587 G>A,T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs149296057 G>A Likely-pathogenic Splice donor variant
rs1555138550 G>T Likely-pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
211
miRTarBase ID miRNA Experiments Reference
MIRT016499 hsa-miR-193b-3p Proteomics 21512034
MIRT020820 hsa-miR-155-5p Proteomics 18668040
MIRT031777 hsa-miR-16-5p Proteomics 18668040
MIRT051923 hsa-let-7b-5p CLASH 23622248
MIRT051923 hsa-let-7b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000228 Component Nuclear chromosome IDA 12138188
GO:0000278 Process Mitotic cell cycle IEA
GO:0000779 Component Condensed chromosome, centromeric region IBA
GO:0000793 Component Condensed chromosome IDA 12138188
GO:0000794 Component Condensed nuclear chromosome ISO
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615638 24305 ENSG00000010292
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15021
Protein 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)
Protein function Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12922 Cnd1_N 75 240 non-SMC mitotic condensation complex subunit 1, N-term Domain
PF12717 Cnd1 1070 1231 non-SMC mitotic condensation complex subunit 1 Family
Sequence
MAPQMYEFHLPLSPEELLKSGGVNQYVVQEVLSIKHLPPQLRAFQAAFRAQGPLAMLQHF
DTIYSILHHFRSIDPGLKEDTLQFLIKVVSRHSQELPAILDDTTLSGSDRNAHLNALKMN
CYALIRLLESFETMASQTNLVDLDLGGKGKKARTKAAHGFDWEEERQPILQLLTQLLQLD
IRHLWNHSIIEEEFVSLVTGCCYRLLENPTINHQKNRPTREAITHLLGVALTRYNHMLSA

TVKIIQMLQHFEHLAPVLVAAVSLWATDYGMKSIVGEIVREIGQKCPQELSRDPSGTKGF
AAFLTELAERVPAILMSSMCILLDHLDGENYMMRNAVLAAMAEMVLQVLSGDQLEAAARD
TRDQFLDTLQAHGHDVNSFVRSRVLQLFTRIVQQKALPLTRFQAVVALAVGRLADKSVLV
CKNAIQLLASFLANNPFSCKLSDADLAGPLQKETQKLQEMRAQRRTAAASAVLDPEEEWE
AMLPELKSTLQQLLQLPQGEEEIPEQIANTETTEDVKGRIYQLLAKASYKKAIILTREAT
GHFQESEPFSHIDPEESEETRLLNILGLIFKGPAASTQEKNPRESTGNMVTGQTVCKNKP
NMSDPEESRGNDELVKQEMLVQYLQDAYSFSRKITEAIGIISKMMYENTTTVVQEVIEFF
VMVFQFGVPQALFGVRRMLPLIWSKEPGVREAVLNAYRQLYLNPKGDSARAKAQALIQNL
SLLLVDASVGTIQCLEEILCEFVQKDELKPAVTQLLWERATEKVACCPLERCSSVMLLGM
MARGKPEIVGSNLDTLVSIGLDEKFPQDYRLAQQVCHAIANISDRRKPSLGKRHPPFRLP
QEHRLFERLRETVTKGFVHPDPLWIPFKEVAVTLIYQLAEGPEVICAQILQGCAKQALEK
LEEKRTSQEDPKESPAMLPTFLLMNLLSLAGDVALQQLVHLEQAVSGELCRRRVLREEQE
HKTKDPKEKNTSSETTMEEELGLVGATADDTEAELIRGICEMELLDGKQTLAAFVPLLLK
VCNNPGLYSNPDLSAAASLALGKFCMISATFCDSQLRLLFTMLEKSPLPIVRSNLMVATG
DLAIRFPNLVDPWTPHLYARLRDPAQQVRKTAGLVMTHLILKDMVKVKGQVSEMAVLLID
PEPQIAALAKNFFNELSHKGNAIYNLLPDIISRLSDPELGVEEEPFHTIMKQLLSYITKD
KQTESLVEKLCQRFRTSRTERQQRDLAYCVS
QLPLTERGLRKMLDNFDCFGDKLSDESIF
SAFLSVVGKLRRGAKPEGKAIIDEFEQKLRACHTRGLDGIKELEIGQAGSQRAPSAKKPS
TGSRYQPLASTASDNDFVTPEPRRTTRRHPNTQQRASKKKPKVVFSSDESSEEDLSAEMT
EDETPKKTTPILRASARRHRS
Sequence length 1401
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Condensation of Prometaphase Chromosomes
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
51
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Microcephaly 21, primary, autosomal recessive Likely pathogenic rs772347389 RCV001825047
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity; Benign rs149296057, rs61731148 RCV005901405
RCV005913294
Cervical cancer Benign rs61731148 RCV005913295
Clear cell carcinoma of kidney Benign rs61731148 RCV005913296
Colon adenocarcinoma Benign rs61731148 RCV005913293
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Stimulate 36701707
Adenocarcinoma of Lung Associate 37498296, 39220139
Adrenocortical Carcinoma Associate 37498296
Alzheimer Disease Associate 18340469, 19451718
Breast Neoplasms Stimulate 35348268
Carcinogenesis Associate 36701707
Carcinoma Hepatocellular Associate 37498296
Carcinoma Renal Cell Associate 37498296
Colitis Ulcerative Stimulate 31885422
Endometrial Neoplasms Associate 37498296