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CIT Gene(Protein Coding)

Citron Rho-Interacting Serine/Threonine Kinase

GCID:
GC12M119650
GIFtS:
51
Genes Participants
UDN Logo

Aliases for CIT Gene

Aliases for CIT Gene

  • Citron Rho-Interacting Serine/Threonine Kinase 2 3 5
  • Citron (Rho-Interacting, Serine/Threonine Kinase 21) 2 3
  • Serine/Threonine-Protein Kinase 21 3 4
  • Citron Rho-Interacting Kinase 3 4
  • Serine/Threonine Kinase 21 2 3
  • STK21 3 4
  • CRIK 3 4
  • EC 2.7.11.1 4
  • EC 2.7.11 56
  • KIAA0949 4
  • MCPH17 3
  • CITK 3

External Ids for CIT Gene

Previous GeneCards Identifiers for CIT Gene

  • GC12M118996
  • GC12M119906
  • GC12M118535
  • GC12M118586
  • GC12M120123
  • GC12M117131

Summaries for CIT Gene

Entrez Gene Summary for CIT Gene

  • 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 Primary Autosomal Recessive Microcephaly. Among its related pathways are Signaling by Rho GTPases and ERK Signaling. 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 CDC42BPA.

UniProtKB/Swiss-Prot for CIT Gene

  • 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.

Gene Wiki entry for CIT Gene

Additional gene information for CIT Gene

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

Promoters and enhancers 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
GH12J119876 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 607.4 +0.1 120 2 SP1 CC2D1A NKRF POLR2A GTF2F1 SP7 KLF14 CREM PRDM1 IKZF1 CIT GCN1 GC12P119728
GH12J119715 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +160.7 160694 2.3 ELF3 MNT CEBPG SP1 PPARG ZNF644 KAT8 FOSL2 HMG20B RXRA CIT TMEM233 PRKAB1 MIR1178 GC12P119728
GH12J119678 Enhancer 1.1 ENCODE dbSUPER 12.1 +193.9 193890 9.7 ZNF652 ELF3 RELA SP1 HNF1A CREM RXRA ZIC2 GATAD2A RXRB PRKAB1 MIR1178 CIT ENSG00000248636 TMEM233 ENSG00000255692
GH12J119803 Promoter/Enhancer 1.3 Ensembl ENCODE 4.8 +73.3 73319 2.4 ZNF652 CTCF KAT8 FOSL2 CREB1 GLIS2 ZIC2 GATAD2A POLR2A ZNF561 CIT GC12P119728
GH12J119719 Enhancer 0.4 dbSUPER 12.4 +157.3 157330 1.3 SCRT2 YY1 ENSG00000255692 CIT TMEM233 GC12P119728 MIR1178
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CIT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CIT gene promoter:
  • Bach2
  • E47
  • Elk-1
  • Gfi-1
  • NF-1
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for CIT Gene

Genomic Locations for CIT Gene
chr12:119,685,790-119,877,320
(GRCh38/hg38)
Size:
191,531 bases
Orientation:
Minus strand
chr12:120,123,595-120,315,095
(GRCh37/hg19)
Size:
191,501 bases
Orientation:
Minus strand

Genomic View for CIT Gene

Genes around CIT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CIT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CIT Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CIT Gene

Proteins for CIT Gene

Products:

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  • Protein details for CIT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14578-CTRO_HUMAN
    Recommended name:
    Citron Rho-interacting kinase
    Protein Accession:
    O14578
    Secondary Accessions:
    • 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};

    Alternative splice isoforms for CIT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CIT Gene

Protein Expression for CIT Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CIT Gene

O14578:
  • YMAPEVL
  • HRDIKPEN

Post-translational modifications for CIT Gene

  • Ubiquitination at isoforms=3, 4518 and isoforms=2, 4350
  • Modification sites at PhosphoSitePlus

Other Protein References for CIT Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CIT Gene

Gene Families for CIT Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CIT Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CIT Gene

GenScript: Design optimal peptide antigens:
  • Serine/threonine-protein kinase 21 (CTRO_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14578

UniProtKB/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.
genes like me logo Genes that share domains with CIT: view

Function for CIT Gene

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  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CIT Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.
GENATLAS Biochemistry:
citron,rho-interacting,serine/threonine kinase 21 with a restricted pattern of expression

Enzyme Numbers (IUBMB) for CIT Gene

Phenotypes From GWAS Catalog for CIT Gene

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with CIT: view
genes like me logo Genes that share phenotypes with CIT: view

Human Phenotype Ontology for CIT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CIT Gene

MGI Knock Outs for CIT:
  • Cit Cit<tm1a(KOMP)Wtsi>
  • Cit Cit<tm1Fdc>

Animal Model Products

  • Taconic Biosciences Mouse Models for CIT

Clone Products

  • Applied Biological Materials (abm): Clones for CIT - Now 50% OFF >
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  • * CIT tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CIT gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 2
golgi apparatus 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IBA 21873635
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with CIT: view

Pathways & Interactions for CIT Gene

GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
genes like me logo Genes that share pathways with CIT: view

Pathways by source for CIT Gene

1 BioSystems pathway for CIT Gene
3 Qiagen pathways for CIT Gene

Gene Ontology (GO) - Biological Process 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:0001889 liver development IEA --
GO:0006468 protein phosphorylation IEA --
genes like me logo Genes that share ontologies with CIT: view

No data available for SIGNOR curated interactions for CIT Gene

Drugs & Compounds for CIT Gene

Products:

  1. Drug
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

(14) Drugs for CIT Gene - From: DrugBank, ClinicalTrials, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Citric Acid Approved, Vet_approved Nutra Agonist, Activator, Target 1401
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 2366
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3185
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2309

(5) Additional Compounds for CIT Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Diglycerides Group A
  • Diacylglycerol(28:0)
  • DAG(14:0/0:0/14:0)
  • 1-myristoyl-3-myristoyl-sn-glycerol
  • Diglyceride
  • Diacylglycerol(14:0/0:0/14:0)
Diglycerides Group B
  • 1,2-Ditetradecanoyl-sn-glycerol
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
Diglycerides Group C
  • 1-Stearoyl-2-palmitoyl-sn-glycerol
  • DAG(18:0/16:0)
  • DAG(34:0)
  • DG(18:0/16:0)
  • DG(34:0)
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with CIT: view

Transcripts for CIT Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CIT Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(19) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for CIT Gene

Citron (rho-interacting, serine/threonine kinase 21):
Representative Sequences:

Clone Products

  • Applied Biological Materials (abm): Clones for CIT - Now 50% OFF >
  • * CIT as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CIT tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for CIT Gene

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 ^
SP1: - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
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 ^
SP1: - - - - - - -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 40a · 40b ^ 41 ^ 42 ^ 43a · 43b ^ 44 ^ 45 ^ 46a · 46b · 46c ^ 47 ^ 48a · 48b · 48c · 48d ^ 49
SP1: - -
SP2:
SP3: - -
SP4:
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for CIT Gene

GeneLoc Exon Structure for
CIT
ECgene alternative splicing isoforms for
CIT

Expression for CIT Gene

Products:

  1. Primer
  2. Gene Expression Assay
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CIT Gene

mRNA expression in normal human tissues for CIT Gene
mRNA expression by BioGPS for CIT GenemRNA expression by GTEx for CIT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CIT Gene

This gene is overexpressed in Brain - Cortex (x5.8), Brain - Frontal Cortex (BA9) (x5.6), Brain - Putamen (basal ganglia) (x4.5), and Brain - Caudate (basal ganglia) (x4.0).

Protein differential expression in normal tissues from HIPED for CIT Gene

This gene is overexpressed in Monocytes (17.8), Brain (14.0), Bone marrow mesenchymal stem cell (13.8), and Frontal cortex (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CIT Gene



NURSA nuclear receptor signaling pathways regulating expression of CIT Gene:

CIT

SOURCE GeneReport for Unigene cluster for CIT Gene:

Hs.119594

Evidence on tissue expression from TISSUES for CIT Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with CIT: view

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.

Orthologs for CIT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CIT 35 34
  • 99.6 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia CIT 35
  • 93 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia CIT 35 34
  • 92.88 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CIT 35 34
  • 90.72 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Cit 34
  • 90.16 (n)
mouse
(Mus musculus)
 Mammalia Cit 17 35 34
  • 89.88 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CIT 35
  • 84 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CIT 35 34
  • 80.18 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CIT 35
  • 88 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cit 34
  • 74.48 (n)
Str.11915 34
zebrafish
(Danio rerio)
 Actinopterygii CIT (2 of 2) 35
  • 72 (a)
 OneToMany
CIT (1 of 2) 35
  • 70 (a)
 OneToMany
LOC100329792 34
  • 69.67 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006932 34
  • 45.97 (n)
fruit fly
(Drosophila melanogaster)
 Insecta sti 35 34
  • 45.49 (n)
 OneToOne
CG10522 36
  • 30 (a)
worm
(Caenorhabditis elegans)
 Secernentea F59A6.5 36
  • 21 (a)
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)

Evolution for CIT Gene

ENSEMBL:
Gene Tree for CIT (if available)
TreeFam:
Gene Tree for CIT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CIT: view image

Paralogs for CIT Gene

Paralogs for CIT Gene

(20) SIMAP similar genes for CIT Gene using alignment to 4 proteins:

  • CTRO_HUMAN
  • F5H4K4_HUMAN
  • H0YGG8_HUMAN
  • H7BYJ3_HUMAN
genes like me logo Genes that share paralogs with CIT: view

Variants for CIT Gene

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  1. SNP Genotyping and Copy Number Assay
VarElect - NGS phenotyper. Rapid prioritization of variants from NGS data powered by 100+ GeneCards sources

Sequence variations from dbSNP and Humsavar for CIT Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs201214475 uncertain-significance, Inborn genetic diseases 119,718,401(-) G/A coding_sequence_variant, missense_variant
rs746025869 uncertain-significance, Inborn genetic diseases 119,710,363(-) T/G coding_sequence_variant, missense_variant
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

Structural Variations from Database of Genomic Variants (DGV) for CIT Gene

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

Variation tolerance for CIT Gene

Residual Variation Intolerance Score: 0.632% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.98; 59.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CIT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CIT
Human Gene Mutation Database (HGMD)
CIT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CIT Gene

Disorders for CIT Gene

MalaCards: The human disease database

(7) MalaCards diseases for CIT Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CIT in MalaCards View complete list of genes associated with diseases

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
genes like me logo Genes that share disorders with CIT: view

No data available for Genatlas for CIT Gene

Publications for CIT Gene

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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 45 58

ExternalLinks

View latest publications for CIT gene in Mastermind

Products for CIT Gene

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