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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CIT
citron rho-interacting serine/threonine kinase
Chromosome 12 Β· 12q24.23
NCBI Gene: 11113Ensembl: ENSG00000122966.19HGNC: HGNC:1985UniProt: O14578
109PubMed Papers
21Diseases
0Drugs
25Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitotic cytokinesispositive regulation of cytokinesismembraneprotein bindingautosomal recessive primary microcephalyneurodegenerative diseasegenetic disorderPrimary microcephaly
✦AI Summary

Based on the provided abstracts, there is insufficient information to write a comprehensive gene function summary for CIT (citron rho-interacting serine/threonine kinase). The PubMed abstracts provided do not contain any studies or data specifically about the CIT gene or its protein product. Instead, the abstracts discuss unrelated topics such as chemotherapy-induced thrombocytopenia (which uses the same CIT abbreviation), cold-induced thermogenesis, L-citrulline supplementation, dialysis-associated amyloidosis, and fibrinogen modifications in lung disease. None of these studies provide evidence about the molecular function, mechanisms, disease relevance, or clinical significance of the citron rho-interacting serine/threonine kinase gene. To provide an accurate, evidence-based summary of CIT gene function, relevant research articles specifically investigating this gene and its protein would be required.

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
autosomal recessive primary microcephalyOpen Targets
0.78Strong
neurodegenerative diseaseOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.47Moderate
Primary microcephalyOpen Targets
0.46Moderate
atrial fibrillationOpen Targets
0.31Weak
thyroid cancerOpen Targets
0.30Weak
migraine disorderOpen Targets
0.29Weak
type 2 diabetes mellitusOpen Targets
0.28Weak
lysosomal storage diseaseOpen Targets
0.27Weak
kidney diseaseOpen Targets
0.27Weak
adolescent idiopathic scoliosisOpen Targets
0.23Weak
transient ischemic attackOpen Targets
0.20Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.19Weak
Abnormal pupillary functionOpen Targets
0.19Weak
cardiac transplantOpen Targets
0.17Weak
inflammatory bowel diseaseOpen Targets
0.16Weak
Intellectual disabilityOpen Targets
0.15Weak
Prolonged QT intervalOpen Targets
0.14Weak
marfanoid habitus and intellectual disabilityOpen Targets
0.12Weak
cancerOpen Targets
0.07Suggestive
Microcephaly 17, primary, autosomal recessiveUniProt
Pathogenic Variants25
NM_001206999.2(CIT):c.3532C>T (p.Arg1178Ter)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2023β†’ Residue 1178
NM_001206999.2(CIT):c.658C>T (p.Arg220Ter)Pathogenic
not provided|Microcephaly 17, primary, autosomal recessive
β˜…β˜…β˜†β˜†2023β†’ Residue 220
NM_001206999.2(CIT):c.426dup (p.Glu143Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 143
NM_001206999.2(CIT):c.97-2A>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001206999.2(CIT):c.613del (p.Glu204_Leu205insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 204
NM_001206999.2(CIT):c.142C>T (p.Arg48Ter)Pathogenic
Microcephaly 17, primary, autosomal recessive
β˜…β˜†β˜†β˜†2025β†’ Residue 48
NM_001206999.2(CIT):c.29_38del (p.Asn10fs)Likely pathogenic
Autosomal recessive primary microcephaly|Microcephaly 17, primary, autosomal recessive
β˜…β˜†β˜†β˜†2024β†’ Residue 10
NM_001206999.2(CIT):c.958-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001206999.2(CIT):c.1111+1G>APathogenic
Autosomal recessive primary microcephaly|Microcephaly 17, primary, autosomal recessive
β˜…β˜†β˜†β˜†2024
NM_001206999.2(CIT):c.517-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001206999.2(CIT):c.1189del (p.Val397fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 397
NM_001206999.2(CIT):c.1220C>G (p.Ser407Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 407
NM_001206999.2(CIT):c.957+1G>TPathogenic
Microcephaly 17, primary, autosomal recessive
β˜…β˜†β˜†β˜†2022
NM_001206999.2(CIT):c.5515C>T (p.Arg1839Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2020β†’ Residue 1839
NM_001206999.2(CIT):c.1070A>G (p.His357Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 357
NM_001206999.2(CIT):c.1122dup (p.Phe375fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 375
NM_001206999.2(CIT):c.4617del (p.Asp1541fs)Pathogenic
Microcephaly 17, primary, autosomal recessive
β˜…β˜†β˜†β˜†β†’ Residue 1541
NM_001206999.2(CIT):c.367T>G (p.Tyr123Asp)Likely pathogenic
Microcephaly 17, primary, autosomal recessive
β˜…β˜†β˜†β˜†β†’ Residue 123
NM_001206999.2(CIT):c.1555C>T (p.Arg519Ter)Likely pathogenic
Microcephaly 17, primary, autosomal recessive
β˜…β˜†β˜†β˜†β†’ Residue 519
NM_001206999.2(CIT):c.753+3A>TPathogenic
Microcephaly 17, primary, autosomal recessive
β˜†β˜†β˜†β˜†2022
View on ClinVar β†—
Related Genes
PRC1Protein interaction99%ANLNProtein interaction99%ASPMProtein interaction99%RHOAProtein interaction98%KIF4AProtein interaction96%KIF14Protein interaction90%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
28%
Lung
4%
Heart
2%
Liver
1%
Ovary
1%
Gene Interaction Network
Click a node to explore
CITPRC1ANLNASPMRHOAKIF4AKIF14
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O14578
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.35Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.29 [0.24–0.35]
RankingsWhere CIT stands among ~20K protein-coding genes
  • #4,348of 20,598
    Most Researched109 Β· top quartile
  • #1,978of 5,498
    Most Pathogenic Variants25
  • #1,565of 17,882
    Most Constrained (LOEUF)0.35 Β· top 10%
Genes detectedCIT
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Optimal management of chemotherapy-induced thrombocytopenia with thrombopoietin receptor agonists.
PMID: 37914568
Blood Rev Β· 2024
1.00
2
Risk-stratification in frontline CLL therapy: standard of care.
PMID: 39644006
Hematology Am Soc Hematol Educ Program Β· 2024
0.90
3
Treatment of chemotherapy-induced thrombocytopenia in patients with non-hematologic malignancies.
PMID: 35642485
Haematologica Β· 2022
0.80
4
Your chemo is no good here: management of high-risk MCL.
PMID: 39644043
Hematology Am Soc Hematol Educ Program Β· 2024
0.70
5
Cold-induced thermogenesis in humans.
PMID: 27876809
Eur J Clin Nutr Β· 2017
0.60