Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9918
Gene name Gene Name - the full gene name approved by the HGNC.
Non-SMC condensin I complex subunit D2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NCAPD2
Synonyms (NCBI Gene) Gene synonyms aliases
CAP-D2, CNAP1, MCPH21, hCAP-D2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MCPH21
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000228 Component Nuclear chromosome IDA 12138188
GO:0000779 Component Condensed chromosome, centromeric region IBA 21873635
GO:0000793 Component Condensed chromosome IDA 12138188
GO:0000796 Component Condensin complex IDA 11136719, 12138188
GO:0000796 Component Condensin complex NAS 10958694
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615638 24305 ENSG00000010292
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Moderate intellectual disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Microcephaly Microcephaly, MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
27737959, 28097321
Associations from Text Mining
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