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This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punct... See more...
Aliases for NCAPH Gene
Aliases for NCAPH Gene
External Ids for NCAPH Gene
- HGNC: 1112
- Entrez Gene: 23397
- Ensembl: ENSG00000121152
- OMIM: 602332
- UniProtKB: Q15003
Previous HGNC Symbols for NCAPH Gene
- BRRN1
Previous GeneCards Identifiers for NCAPH Gene
- GC02P097001
- GC02P090962
Summaries for NCAPH Gene
-
This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]
GeneCards Summary for NCAPH Gene
NCAPH (Non-SMC Condensin I Complex Subunit H) is a Protein Coding gene. Diseases associated with NCAPH include Microcephaly 23, Primary, Autosomal Recessive and Microcephaly. Among its related pathways are Mitotic Prometaphase and Cell Cycle, Mitotic.
UniProtKB/Swiss-Prot Summary for NCAPH Gene
-
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 I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases (PubMed:11136719). Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (PubMed:27737959).
Additional gene information for NCAPH Gene
- HGNC(1112)
- Entrez Gene(23397)
- Ensembl(ENSG00000121152)
- OMIM(602332)
- UniProtKB(Q15003)
- Open Targets Platform(ENSG00000121152)
- Search for NCAPH at DataMed
- Search for NCAPH at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NCAPH Gene
Genomics for NCAPH Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for NCAPH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around NCAPH on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NCAPH
- Top Transcription factor binding sites by QIAGEN in the NCAPH gene promoter:
-
- AREB6
- c-Myb
- E47
- FOXD1
- LCR-F1
- MyoD
- RP58
- Tal-1
- Zic3
Genomic Locations for NCAPH Gene
Genomic Locations for NCAPH Gene
- chr2:96,335,766-96,377,091
- (GRCh38/hg38)
- Size:
- 41,326 bases
- Orientation:
- Plus strand
- chr2:97,001,484-97,041,274
- (GRCh37/hg19)
- Size:
- 39,791 bases
- Orientation:
- Plus strand
Genomic View for NCAPH Gene
Genes around NCAPH on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q11.2 by HGNC
- 2q11.2 by Entrez Gene
- 2q11.2 by Ensembl
NCAPH Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NCAPH Gene
Proteins for NCAPH Gene
-
Protein details for NCAPH Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q15003-CND2_HUMAN
- Recommended name:
- Condensin complex subunit 2
- Protein Accession:
- Q15003
- B4E189
- Q8TB87
Protein attributes for NCAPH Gene
- Size:
- 741 amino acids
- Molecular mass:
- 82563 Da
- Quaternary structure:
-
- Component of the condensin complex, which contains the SMC2 and SMC4 heterodimer, and three non SMC subunits that probably regulate the complex: NCAPH/BRRN1, NCAPD2/CAPD2 and NCAPG.
- SequenceCaution:
-
- Sequence=BAA07556.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for NCAPH Gene
Post-translational modifications for NCAPH Gene
- Phosphorylated by CDK1. Its phosphorylation, as well as that of NCAPD2 and NCAPG subunits, activates the condensin complex and is required for chromosome condensation (By similarity).
-
Ubiquitination at Lys41, Lys394, Lys424, Lys495, and Lys648
- NX_Q15003 (NX_Q15003-1)
- Modification sites at PhosphoSitePlus
Other Protein References for NCAPH Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences NCAPH / CAP-H Antibody
- G Biosciences Immunotag™ NCAPH Antibody
-
Custom Antibody ServicesOriGene Antibodies for NCAPH
- Novus Biologicals Antibodies for NCAPH
-
Abcam antibodies for NCAPH
- Invitrogen Antibodies for NCAPH (AFLGC-NCAPH)
-
Boster Bio Antibodies for NCAPH
-
Santa Cruz Biotechnology (SCBT) Antibodies for NCAPH
- Sino Biological Antibodies for NCAPH
Protein Products
-
OriGene Purified Proteins for NCAPH
- Search Origene for MassSpec and Protein Over-expression Lysates for NCAPH
- Origene Custom Protein Services for NCAPH
- antibodies-online: Show 4 available NCAPH Proteins ranked by validation data
- Compare Top NCAPH Proteins
-
Quality Products:
-
Signalway Proteins for NCAPH
-
Abcam proteins for NCAPH
No data available for DME Specific Peptides for NCAPH Gene
Domains & Families for NCAPH Gene
Gene Families for NCAPH Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for NCAPH Gene
- InterPro:
- Blocks:
-
- Barren
- ProtoNet:
Suggested Antigen Peptide Sequences for NCAPH Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ51440, highly similar to Condensin complex subunit 2 (B4E189_HUMAN)
- XCAP-H homolog (CND2_HUMAN)
- Condensin complex subunit 2 (E9PHA2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q15003- Family:
-
- Belongs to the CND2 (condensin subunit 2) family.
Function for NCAPH Gene
Molecular function for NCAPH Gene
- UniProtKB/Swiss-Prot 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 I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases (PubMed:11136719). Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (PubMed:27737959).
Phenotypes From GWAS Catalog for NCAPH Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003682 | chromatin binding | IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 17268547 |
| GO:0044547 | DNA topoisomerase binding | IBA | 21873635 |
| GO:0072587 | DNA topoisomerase (ATP-hydrolyzing) activator activity | IBA | 21873635 |
Phenotypes for NCAPH Gene
- MGI mutant phenotypes for NCAPH:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for NCAPH:
Animal Models for NCAPH Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NCAPH - Select products 50% OFF >
- * NCAPH CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NCAPH
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NCAPH
-
Santa Cruz Biotechnology (SCBT) CRISPR for NCAPH
miRNA for NCAPH Gene
- miRTarBase miRNAs that target NCAPH
-
- hsa-miR-193b-3p (MIRT016393)
- hsa-miR-215-5p (MIRT024329)
- hsa-miR-192-5p (MIRT026338)
- hsa-miR-484 (MIRT041751)
- hsa-miR-92a-3p (MIRT049342)
- hsa-miR-4266 (MIRT573270)
- hsa-miR-6834-5p (MIRT573271)
- hsa-miR-5703 (MIRT573272)
- hsa-miR-4516 (MIRT573273)
- hsa-miR-4434 (MIRT573274)
- hsa-miR-6133 (MIRT573275)
- hsa-miR-6130 (MIRT573276)
- hsa-miR-6129 (MIRT573277)
- hsa-miR-6127 (MIRT573278)
- hsa-miR-4419a (MIRT573279)
- hsa-miR-4510 (MIRT573280)
- hsa-miR-6875-5p (MIRT573281)
- hsa-miR-3126-5p (MIRT573282)
- hsa-miR-5584-5p (MIRT573283)
- hsa-miR-6888-5p (MIRT573284)
- hsa-miR-3157-5p (MIRT740457)
- hsa-miR-3911 (MIRT742848)
- hsa-miR-4323 (MIRT744049)
- hsa-miR-451b (MIRT745805)
- hsa-miR-4690-3p (MIRT747060)
- hsa-miR-4696 (MIRT747210)
- hsa-miR-4797-5p (MIRT748985)
- hsa-miR-5685 (MIRT751188)
- hsa-miR-574-5p (MIRT751426)
- hsa-miR-759 (MIRT759418)
- hsa-miR-7847-3p (MIRT759851)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NCAPH
- Browse OriGene Inhibitory RNA Products For NCAPH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCAPH
Clone Products
- Applied Biological Materials (abm): Clones for NCAPH - Select products 50% OFF >
- * NCAPH as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NCAPH
- Addgene plasmids for NCAPH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NCAPH
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NCAPH Gene
Localization for NCAPH Gene
Subcellular locations from UniProtKB/Swiss-Prot for NCAPH Gene
- Nucleus. Cytoplasm. Chromosome. Note=In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin. A subpopulation of the complex however remains associated with chromosome foci in interphase cells. During mitosis, most of the condensin complex is associated with the chromatin. At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDK1, leading to condensin's association with chromosome arms and to chromosome condensation. Dissociation from chromosomes is observed in late telophase.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
- Cytosol (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000796 | condensin complex | IEA,IDA | 11136719 |
| GO:0000799 | nuclear condensin complex | IBA | 21873635 |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005694 | chromosome | IEA | -- |
Pathways & Interactions for NCAPH Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cell Cycle, Mitotic |
.83
|
.60
|
| 2 | Mitotic Prometaphase | ||
| 3 | Cell cycle_Chromosome condensation in prometaphase |
Cell cycle_Chromosome condensation in prometaphase
-
|
|
| 4 | Aurora B signaling | ||
Pathways by source for NCAPH Gene
1 BioSystems pathway for NCAPH Gene
5 Reactome pathways for NCAPH Gene
1 GeneGo (Thomson Reuters) pathway for NCAPH Gene
- Cell cycle_Chromosome condensation in prometaphase
Interacting Proteins for NCAPH Gene
Selected Interacting proteins:
Q15003-CND2_HUMAN
ENSP00000240423
for NCAPH Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for NCAPH
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007049 | cell cycle | IEA | -- |
| GO:0007076 | mitotic chromosome condensation | IEA,IMP | 27737959 |
| GO:0007143 | female meiotic nuclear division | IEA | -- |
| GO:0010032 | meiotic chromosome condensation | IEA | -- |
| GO:0030261 | chromosome condensation | IEA | -- |
No data available for SIGNOR curated interactions for NCAPH Gene
Transcripts for NCAPH Gene
mRNA/cDNA for NCAPH Gene
- 4 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000240423 6030 nts (view in UCSC)
- ENST00000427946 2363 nts (view in UCSC)
- ENST00000435349 779 nts (view in UCSC)
- ENST00000435975 1852 nts (view in UCSC)
- ENST00000455200 2952 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NCAPH - Select products 50% OFF >
- * NCAPH CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NCAPH
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NCAPH
-
Santa Cruz Biotechnology (SCBT) CRISPR for NCAPH
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NCAPH
- Browse OriGene Inhibitory RNA Products For NCAPH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCAPH
Clone Products
- Applied Biological Materials (abm): Clones for NCAPH - Select products 50% OFF >
- * NCAPH as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NCAPH
- Addgene plasmids for NCAPH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NCAPH
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - |
| ExUns: | 16 | ^ | 17 | ^ | 18a | · | 18b |
|---|---|---|---|---|---|---|---|
| SP1: | |||||||
| SP2: | |||||||
| SP3: | |||||||
| SP4: | |||||||
| SP5: | |||||||
| SP6: | |||||||
| SP7: | |||||||
| SP8: |
Relevant External Links for NCAPH Gene
- GeneLoc Exon Structure for
- NCAPH
Expression for NCAPH Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
- Blood (Hematopoietic System)
-
Testis (Reproductive System)
-
Pancreas (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for NCAPH Gene
This gene is overexpressed in Testis (x9.8).
This gene is overexpressed in Bone (28.1), Lung (10.3), Platelet (7.5), and Testis (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NCAPH Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NCAPH
SOURCE GeneReport for Unigene cluster for NCAPH Gene:
Hs.308045mRNA Expression by UniProt/SwissProt for NCAPH Gene:
Q15003-CND2_HUMAN
Tissue specificity:
Widely expressed at low level. Expressed in proliferating cells.
Evidence on tissue expression from TISSUES for NCAPH Gene
- Kidney(4.2)
- Bone marrow(4.2)
- Nervous system(3.3)
- Pancreas(3.1)
- Skin(2.4)
- Muscle(2.4)
- Heart(2.2)
Primer Products
-
OriGene qPCR primer pairs for NCAPH
-
OriGene qPCR primer pairs and template standards for NCAPH
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NCAPH Gene
Orthologs for NCAPH Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NCAPH 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NCAPH 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | NCAPH 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ncaph 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | NCAPH 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | NCAPH 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | NCAPH 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | NCAPH 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ncaph 30 |
|
||
| Str.10092 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | brrn1-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ncaph 30 31 |
|
OneToOne | |
| wufc69h06 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7620 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011508 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | barr 30 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BRN1 31 33 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5013 31 |
|
OneToOne |
- Species where no ortholog for NCAPH was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for NCAPH Gene
- ENSEMBL:
- Gene Tree for NCAPH (if available)
- TreeFam:
- Gene Tree for NCAPH (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NCAPH: view image
Paralogs for NCAPH Gene
No data available for Paralogs for NCAPH Gene
Variants for NCAPH Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NCAPH Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 716739 | Benign: not provided | 96,344,170(+) | A/G | MISSENSE_VARIANT | |
| 730784 | Likely Benign: not provided | 96,367,346(+) | G/A | SYNONYMOUS_VARIANT | |
| 745992 | Likely Benign: not provided | 96,365,868(+) | T/C | INTRON_VARIANT | |
| 769568 | Benign: not provided | 96,353,406(+) | A/G | INTRON_VARIANT | |
| 773426 | Likely Benign: not provided | 96,354,330(+) | G/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv607e201 | CNV | deletion | 23290073 |
| esv3425717 | CNV | duplication | 20981092 |
| esv3591652 | OTHER | inversion | 21293372 |
| esv5003 | OTHER | complex | 18987735 |
| nsv1135873 | CNV | deletion | 24896259 |
| nsv508155 | CNV | deletion | 20534489 |
| nsv819311 | CNV | loss | 19587683 |
| nsv834305 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.12;
51.20% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NCAPH Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCAPH Gene
Disorders for NCAPH Gene
(2) MalaCards diseases for NCAPH Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| microcephaly 23, primary, autosomal recessive |
|
|
| microcephaly |
|
|
Search NCAPH in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CND2_HUMAN- Microcephaly 23, primary, autosomal recessive (MCPH23) [MIM:617985]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. {ECO:0000269 PubMed:27737959}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for NCAPH
No data available for Genatlas for NCAPH Gene
Publications for NCAPH Gene
- Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. (PMID: 27737959) Martin CA … Jackson AP (Genes & development 2016) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
- Chromosome condensation by a human condensin complex in Xenopus egg extracts. (PMID: 11136719) Kimura K … Hirano T (The Journal of biological chemistry 2001) 3 4
- Cell cycle-dependent expression and nucleolar localization of hCAP-H. (PMID: 11694586) Cabello OA … Belmont JW (Molecular biology of the cell 2001) 3 4
- Localization of BRRN1, the human homologue of Drosophila barr, to 2q11.2. (PMID: 9417923) Cabello OA … Belmont JW (Genomics 1997) 2 3
ExternalLinks
Products for NCAPH Gene
- Custom Antibody ServicesOriGene Antibodies for NCAPH
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for NCAPH
- Search Origene for MassSpec and Protein Over-expression Lysates for NCAPH
- Origene Custom Protein Services for NCAPH
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NCAPH
- Browse OriGene Inhibitory RNA Products For NCAPH
- OriGene qPCR primer pairs for NCAPH
- OriGene qPCR primer pairs and template standards for NCAPH
- OriGene CRISPR knockouts for NCAPH
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For NCAPH
- Sino Biological Human cDNA Clone for NCAPH
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for NCAPH
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for NCAPH
- Novus Biologicals proteins and lysates for NCAPH
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for NCAPH
- Abcam proteins for NCAPH
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for NCAPH (AFLGC-NCAPH)
- VectorBuilder Custom and pre-made DNA vectors for NCAPH (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for NCAPH (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for NCAPH (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for NCAPH CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for NCAPH
- Addgene plasmids for NCAPH
- antibodies-online: Show 31 available NCAPH Antibodies ranked by validation data
- Compare Top NCAPH Antibodies
- antibodies-online: Search results for available NCAPH related products ranked by validation data
- antibodies-online: Show 4 available NCAPH Proteins ranked by validation data
- Compare Top NCAPH Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for NCAPH
- Search Santa Cruz Biotechnology (SCBT) for NCAPH siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for NCAPH
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NCAPH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NCAPH
- Search GeneCopoeia for miRNA 3'UTR Target clone products for NCAPH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCAPH
- Boster Bio Antibodies for NCAPH
- Browse Boster Bio ELISA Kits
- Signalway Proteins for NCAPH
Sources for NCAPH Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB