Aliases for CIT Gene
Aliases for CIT Gene
External Ids for CIT Gene
- HGNC: 1985
- Entrez Gene: 11113
- Ensembl: ENSG00000122966
- OMIM: 605629
- UniProtKB: O14578
Previous GeneCards Identifiers for CIT Gene
- GC12M118996
- GC12M119906
- GC12M118535
- GC12M118586
- GC12M120123
- GC12M117131
Summaries for CIT Gene
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This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
GeneCards Summary for CIT Gene
CIT (Citron Rho-Interacting Serine/Threonine Kinase) is a Protein Coding gene. Diseases associated with CIT include Microcephaly 17, Primary, Autosomal Recessive and Autosomal Recessive Primary Microcephaly. Among its related pathways are Sweet Taste Signaling and Signaling by Rho GTPases. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is CDC42BPB.
UniProtKB/Swiss-Prot for CIT Gene
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Plays a role in cytokinesis. Required for KIF14 localization to the central spindle and midbody. Putative RHO/RAC effector that binds to the GTP-bound forms of RHO and RAC1. It probably binds p21 with a tighter specificity in vivo. Displays serine/threonine protein kinase activity. Plays an important role in the regulation of cytokinesis and the development of the central nervous system. Phosphorylates MYL9/MLC2.
Additional gene information for CIT Gene
- Monarch Initiative
- Search for CIT at DataMed
- Search for CIT at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CIT Gene
Genomics for CIT Gene
GeneHancer (GH) Regulatory Elements for CIT Gene
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH12I119876 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 557.5 | +0.1 | 144 | 1.9 | HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 NCOA2 POLR2B GLIS2 ZNF143 | CIT GCN1 PXN PRKAB1 RAB35 GC12P119728 | |
GH12I119715 | Enhancer | 1.6 | FANTOM5 Ensembl ENCODE dbSUPER | 12.4 | +160.9 | 160883 | 2 | CLOCK FOXA2 MLX ARID4B NEUROD1 SIN3A YY1 FOS RXRA REST | CIT TMEM233 PRKAB1 MIR1178 GC12P119728 | |
GH12I119678 | Enhancer | 1.3 | Ensembl ENCODE dbSUPER | 12.1 | +193.9 | 193888 | 9.7 | ELF3 FOXA2 ARID4B RAD21 YY1 SLC30A9 POLR2B ATF7 BCLAF1 CREM | PRKAB1 MIR1178 CIT LOC105370027 TMEM233 ENSG00000255692 | |
GH12I119803 | Promoter/Enhancer | 1.3 | Ensembl ENCODE | 4.8 | +73.4 | 73370 | 1.9 | PKNOX1 ARNT ARID4B KLF17 SIN3A RAD21 DNMT3B GLIS2 ZNF143 FOS | CIT GC12P119728 | |
GH12I119719 | Enhancer | 0.4 | dbSUPER | 12.4 | +157.3 | 157328 | 1.3 | SCRT2 YY1 | ENSG00000255692 CIT TMEM233 MIR1178 GC12P119728 |
- Top Transcription factor binding sites by QIAGEN in the CIT gene promoter:
Regulatory Element Products
Genomic Locations for CIT Gene
- chr12:119,685,790-119,877,318
- (GRCh38/hg38)
- Size:
- 191,529 bases
- Orientation:
- Minus strand
- chr12:120,123,595-120,315,095
- (GRCh37/hg19)
Genomic View for CIT Gene
- Cytogenetic band:
-
- 12q24.23 by Ensembl
- 12q24.23 by Entrez Gene
- 12q24.23 by HGNC


RefSeq DNA sequence for CIT Gene
Proteins for CIT Gene
-
Protein details for CIT Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O14578-CTRO_HUMAN
- Recommended name:
- Citron Rho-interacting kinase
- Protein Accession:
- O14578
- Q2M5E1
- Q6XUH8
- Q86UQ9
- Q9UPZ7
Protein attributes for CIT Gene
- Size:
- 2027 amino acids
- Molecular mass:
- 231431 Da
- Quaternary structure:
-
- Directly interacts with KIF14 depending on the activation state (stronger interaction with the kinase-dead form). Homodimer (By similarity). Interacts with TTC3.
- SequenceCaution:
-
- Sequence=BAA76793.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for CIT Gene
Selected DME Specific Peptides for CIT Gene
- O14578:
-
- YMAPEVL
- HRDIKPEN
Post-translational modifications for CIT Gene
- Ubiquitination at Lys350 and posLast=518518
Other Protein References for CIT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CIT
- Novus Biologicals Antibodies for CIT
-
Abcam antibodies for CIT
- Invitrogen Antibodies for CIT
- Search GeneTex for Antibodies for CIT
-
Santa Cruz Biotechnology (SCBT) Antibodies for CIT
Protein Products
-
OriGene Purified Proteins for CIT
- Search Origene for MassSpec and Protein Over-expression Lysates for CIT
- Origene Custom Protein Services for CIT
- Novus Biologicals proteins for CIT
- antibodies-online: Search results for 5 available CIT Proteins ranked by validation data
- Compare Top CIT Proteins
-
Quality Products:
- Search GeneTex for Proteins for CIT
-
Abcam proteins for CIT
Assay Products
- antibodies-online: Search results for available CIT related products ranked by validation data
Domains & Families for CIT Gene
Gene Families for CIT Gene
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for CIT Gene
Suggested Antigen Peptide Sequences for CIT Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O14578UniProtKB/Swiss-Prot:
CTRO_HUMAN :- Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.
- Family:
-
- Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.
Function for CIT Gene
Molecular function for CIT Gene
- GENATLAS Biochemistry:
- citron,rho-interacting,serine/threonine kinase 21 with a restricted pattern of expression
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + a protein = ADP + a phosphoprotein.
- UniProtKB/Swiss-Prot Function:
- Plays a role in cytokinesis. Required for KIF14 localization to the central spindle and midbody. Putative RHO/RAC effector that binds to the GTP-bound forms of RHO and RAC1. It probably binds p21 with a tighter specificity in vivo. Displays serine/threonine protein kinase activity. Plays an important role in the regulation of cytokinesis and the development of the central nervous system. Phosphorylates MYL9/MLC2.
Enzyme Numbers (IUBMB) for CIT Gene
Phenotypes From GWAS Catalog for CIT Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004672 | protein kinase activity | IEA | -- |
GO:0004674 | protein serine/threonine kinase activity | ISS | 9792683 |
GO:0005515 | protein binding | IPI | 16431929 |
GO:0005524 | ATP binding | IEA | -- |
Phenotypes for CIT Gene
- MGI mutant phenotypes for CIT:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CIT:
-
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Decreased viability ratio
- Dynamic nuclei (hole, folded or small irregular)
- Increased G1 DNA content
- G0/1 arrest
- Effect on mitosis
- Decreased viability
- Decreased substrate adherent cell growth
- Decreased cell migration
- Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)
- Increased viability with tamoxifen
- Increased colony dispersion (increased number of colonies and decreased number of cells per colony)
- Paclitaxel antagonistic effect
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CIT
-
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ViGene Biosciences lentiviral particle packaged cDNA for CIT gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CIT gene
- Search ViGene Biosciences for CIT
CRISPR Products
-
OriGene CRISPR knockouts for CIT
- genomics-online: gRNA clones - Search results for 75 available CIT gene related products
- Overview of 75 available CIT gene related products
- Applied Biological Materials CRISPR for CIT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CIT
- GenScript: Design CRISPR guide RNA sequences for CIT
miRNA for CIT Gene
- miRTarBase miRNAs that target CIT
-
- hsa-mir-215-5p (MIRT024814)
- hsa-mir-192-5p (MIRT026796)
- hsa-mir-93-3p (MIRT038779)
- hsa-mir-92b-3p (MIRT040664)
- hsa-mir-29b-3p (MIRT048374)
- hsa-mir-92a-3p (MIRT048952)
- hsa-mir-6835-3p (MIRT062676)
- hsa-mir-20a-5p (MIRT440941)
- hsa-mir-106b-5p (MIRT440942)
- hsa-mir-4480 (MIRT441698)
- hsa-mir-203a-3p (MIRT441699)
- hsa-mir-5009-3p (MIRT441700)
- hsa-mir-4499 (MIRT441701)
- hsa-mir-1252-3p (MIRT441702)
- hsa-mir-3646 (MIRT441703)
- hsa-mir-607 (MIRT527667)
- hsa-mir-6715b-3p (MIRT527668)
- hsa-mir-6854-3p (MIRT527669)
- hsa-mir-154-5p (MIRT527670)
- hsa-mir-19b-3p (MIRT727985)
- hsa-mir-19a-3p (MIRT727986)
- hsa-mir-519d-3p (MIRT727987)
- hsa-mir-93-5p (MIRT727988)
- hsa-mir-17-5p (MIRT727989)
- hsa-mir-20b-5p (MIRT727990)
- hsa-mir-486-5p (MIRT731754)
miRNA Products
- Search ViGene Biosciences for CIT
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CIT
- Browse OriGene Inhibitory RNA Products For CIT
- genomics-online: shRNA clones - Search results for 75 available CIT gene related products
- Overview of 75 available CIT gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CIT gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CIT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CIT
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for CIT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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ViGene Biosciences adenoviral particle packaged cDNA for CIT gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CIT gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CIT gene
No data available for Transcription Factor Targets and HOMER Transcription for CIT Gene
Localization for CIT Gene
Subcellular locations from UniProtKB/Swiss-Prot for CIT Gene
- Cytoplasm.
- Cytosol (2)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005622 | intracellular | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | HDA,IDA | 19946888 |
Pathways & Interactions for CIT Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by Rho GTPases | ||
2 | ERK Signaling | ||
3 | Actin Nucleation by ARP-WASP Complex |
.35
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4 | Sweet Taste Signaling |
.37
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5 | Semaphorin interactions |
Pathways by source for CIT Gene
1 BioSystems pathway for CIT Gene
4 Reactome pathways for CIT Gene
3 Qiagen pathways for CIT Gene
Interacting Proteins for CIT Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000086 | G2/M transition of mitotic cell cycle | IEA | -- |
GO:0000278 | mitotic cell cycle | ISS | 11086988 |
GO:0000281 | mitotic cytokinesis | IMP | 16236794 |
GO:0006468 | protein phosphorylation | IEA | -- |
GO:0007030 | Golgi organization | IEA | -- |
No data available for SIGNOR curated interactions for CIT Gene
Drugs & Compounds for CIT Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Carboplatin | Approved | Pharma | Antitumor agent that forms platinum-DNA adducts., Platinum | 2141 | ||
Cisplatin | Approved | Pharma | Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum | 2906 | ||
Gemcitabine | Approved | Pharma | Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs | 2100 | ||
Guanosine triphosphate | Experimental | Pharma | 0 | |||
ATP | Investigational | Nutra | Agonist | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Full agonist, Agonist | 58-64-0 |
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Diglycerides Group A |
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Diglycerides Group B |
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Diglycerides Group C |
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Diglycerides Group D |
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Transcripts for CIT Gene
mRNA/cDNA for CIT Gene
- (17) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (8) Selected AceView cDNA sequences:
- (19) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CIT Gene
- Citron (rho-interacting, serine/threonine kinase 21):
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for CIT
- genomics-online: gRNA clones - Search results for 75 available CIT gene related products
- Overview of 75 available CIT gene related products
- Applied Biological Materials CRISPR for CIT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CIT
- GenScript: Design CRISPR guide RNA sequences for CIT
miRNA Products
- Search ViGene Biosciences for CIT
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CIT
- Browse OriGene Inhibitory RNA Products For CIT
- genomics-online: shRNA clones - Search results for 75 available CIT gene related products
- Overview of 75 available CIT gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CIT gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CIT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CIT
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for CIT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
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SP13: |
ExUns: | 24 | ^ | 25a | · | 25b | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32a | · | 32b | ^ | 33 | ^ | 34a | · | 34b | ^ | 35a | · | 35b | · | 35c | ^ | 36a | · | 36b | ^ | 37 | ^ | 38a | · | 38b | ^ | 39a | · | 39b | · | 39c | ^ |
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SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
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SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 40a | · | 40b | ^ | 41 | ^ | 42 | ^ | 43a | · | 43b | ^ | 44 | ^ | 45 | ^ | 46a | · | 46b | · | 46c | ^ | 47 | ^ | 48a | · | 48b | · | 48c | · | 48d | ^ | 49 |
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SP1: | - | - | |||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||
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SP10: | |||||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||||||
SP13: |
Expression for CIT Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
-
Spinal Cord (Nervous System)
mRNA differential expression in normal tissues according to GTEx for CIT Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CIT Gene
NURSA nuclear receptor signaling pathways regulating expression of CIT Gene:
CITSOURCE GeneReport for Unigene cluster for CIT Gene:
Hs.119594Evidence on tissue expression from TISSUES for CIT Gene
- Nervous system(4.8)
Primer Products
-
OriGene qPCR primer pairs for CIT
- genomics-online: primer clones - Search results for 75 available CIT gene related products
- Overview of 75 available CIT gene related products
No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CIT Gene
Orthologs for CIT Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CIT 33 34 |
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oppossum (Monodelphis domestica) |
Mammalia | CIT 34 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | CIT 33 34 |
|
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cow (Bos Taurus) |
Mammalia | CIT 33 34 |
|
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rat (Rattus norvegicus) |
Mammalia | Cit 33 |
|
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mouse (Mus musculus) |
Mammalia | Cit 33 16 34 |
|
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platypus (Ornithorhynchus anatinus) |
Mammalia | CIT 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | CIT 33 34 |
|
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lizard (Anolis carolinensis) |
Reptilia | CIT 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | cit 33 |
|
||
Str.11915 33 |
|
||||
zebrafish (Danio rerio) |
Actinopterygii | CIT (2 of 2) 34 |
|
OneToMany | |
CIT (1 of 2) 34 |
|
OneToMany | |||
LOC100329792 33 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006932 33 |
|
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fruit fly (Drosophila melanogaster) |
Insecta | sti 33 34 |
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CG10522 35 |
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worm (Caenorhabditis elegans) |
Secernentea | F59A6.5 35 |
|
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- Species where no ortholog for CIT was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
Paralogs for CIT Gene
Paralogs for CIT Gene
(20) SIMAP similar genes for CIT Gene using alignment to 4 proteins:
Variants for CIT Gene
SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs776383369 | uncertain-significance, Long QT syndrome | 119,697,758(-) | G/A | coding_sequence_variant, missense_variant | |
rs796052161 | uncertain-significance, Long QT syndrome | 119,697,755(-) | G/T | coding_sequence_variant, missense_variant | |
rs879253817 | pathogenic, Primary autosomal recessive microcephaly, Microcephaly 17, primary, autosomal recessive | 119,876,131(-) | TCCAAAGGATTCC/TCC | coding_sequence_variant, frameshift, genic_upstream_transcript_variant | |
rs879255522 | pathogenic, Primary autosomal recessive microcephaly, Microcephaly 17, primary, autosomal recessive | 119,822,819(-) | C/T | genic_upstream_transcript_variant, splice_donor_variant | |
rs879255523 | pathogenic, Primary autosomal recessive microcephaly | 119,857,525(-) | G/A | coding_sequence_variant, genic_upstream_transcript_variant, stop_gained |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1316430 | CNV | insertion | 17803354 |
esv3630913 | CNV | loss | 21293372 |
esv3630914 | CNV | loss | 21293372 |
nsv475444 | CNV | novel sequence insertion | 20440878 |
nsv476317 | CNV | novel sequence insertion | 20440878 |
nsv510575 | CNV | deletion | 20534489 |
nsv560397 | CNV | gain | 21841781 |
Additional Variant Information for CIT Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CIT Gene
Disorders for CIT Gene

(6) MalaCards diseases for CIT Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards
Disorder | Aliases | PubMed IDs |
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microcephaly 17, primary, autosomal recessive |
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autosomal recessive primary microcephaly |
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microlissencephaly |
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microcephaly |
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bipolar disorder |
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UniProtKB/Swiss-Prot
CTRO_HUMAN- Microcephaly 17, primary, autosomal recessive (MCPH17) [MIM:617090]: 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. MCPH17 is a severe form characterized by lissencephaly, enlarged ventricles, agenesis of the corpus callosum, cerebellar hypoplasia, and brainstem hypoplasia. Patients manifest delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. {ECO:0000269 PubMed:27453578, ECO:0000269 PubMed:27453579, ECO:0000269 PubMed:27503289, ECO:0000269 PubMed:27519304}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CIT
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CIT Gene
Publications for CIT Gene
- CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly. (PMID: 27519304) Basit S … Samman MI (Human genetics 2016) 3 4 58
- Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans. (PMID: 27503289) Shaheen R … Alkuraya FS (Human genetics 2016) 3 4 58
- Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. (PMID: 27453579) Harding BN … Bielas SL (American journal of human genetics 2016) 3 4 58
- Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. (PMID: 27453578) Li H … Gleeson JG (American journal of human genetics 2016) 3 4 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 46 available CIT Antibodies ranked by validation data
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- Overview of 75 available CIT gene related products
Sources for CIT Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
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- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
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- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
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- (114) diseasecard
- (115) NIH Rare Diseases
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- (135) Horizon
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- (148) abm
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- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
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- (157) EPDnew