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GeneE
7 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CATIP
ciliogenesis associated TTC17 interacting protein
Chromosome 2 Β· 2q35
NCBI Gene: 375307Ensembl: ENSG00000158428.6HGNC: HGNC:25062UniProt: Q7Z7H3
10PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingactin filament polymerizationcilium organizationnucleusspermatogenic failure 54male infertility with azoospermia or oligozoospermia due to single gene mutationessential hypertensionhypertension
✦AI Summary

CATIP (ciliogenesis associated TTC17 interacting protein) is a conserved protein that plays a critical role in primary ciliogenesis by modulating actin polymerization. CATIP interacts with TTC17 to regulate actin organization; depletion of either protein in human ciliated cells impairs actin polymerization and reduces primary cilia number without affecting cilium length 1. The protein functions through its involvement in the actin cytoskeleton, with the normal protein inhibiting actin repolymerization after disruption, a function impaired by disease-associated mutations 2. Beyond ciliogenesis, CATIP participates in developmental processes; disruption of Catip in embryonic stem cells facilitates conversion to trophoblast stem cells, suggesting a role in cell fate determination during early embryogenesis 3. CATIP mutations cause male infertility: a homozygous missense mutation (p.Phe35Ile) identified in oligoteratoasthenozoospermia patients reduces protein stability and impairs actin polymerization capacity, leading to abnormal sperm axoneme structures and F-actin distribution 2. This mutation represents the first reported recessive CATIP mutation in humans causing spermatogenic failure, consistent with mouse knockout studies demonstrating male infertility as the primary phenotype. These findings establish CATIP as an essential regulator of actin dynamics required for proper ciliogenesis and male reproductive function.

Sources cited
1
C2orf62/CATIP interacts with TTC17 and regulates actin polymerization and ciliogenesis; depletion reduces primary cilia number
PMID: 24475127
2
Homozygous CATIP mutation (p.Phe35Ile) causes oligoteratoasthenozoospermia by impairing actin polymerization and protein stability
PMID: 32503832
3
Catip disruption in embryonic stem cells facilitates trophoblast stem cell conversion, indicating role in cell fate determination
PMID: 38117886
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
spermatogenic failure 54Open Targets
0.50Moderate
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.37Weak
essential hypertensionOpen Targets
0.34Weak
hypertensionOpen Targets
0.34Weak
diabetes mellitusOpen Targets
0.27Weak
type 2 diabetes mellitusOpen Targets
0.22Weak
gallbladder diseaseOpen Targets
0.19Weak
connective tissue diseaseOpen Targets
0.15Weak
azoospermiaOpen Targets
0.07Suggestive
ThrombocytopeniaOpen Targets
0.06Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.05Suggestive
thrombocytopenia 4Open Targets
0.05Suggestive
partial chromosome Y deletionOpen Targets
0.05Suggestive
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.05Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.05Suggestive
spermatogenic failure 3Open Targets
0.05Suggestive
spermatogenic failure 55Open Targets
0.05Suggestive
spermatogenic failure 61Open Targets
0.05Suggestive
spermatogenic failure 62Open Targets
0.05Suggestive
spermatogenic failure 88Open Targets
0.05Suggestive
Spermatogenic failure 54UniProt
Pathogenic Variants1
NM_198559.2(CATIP):c.103T>A (p.Phe35Ile)Pathogenic
Spermatogenic failure 54
β˜†β˜†β˜†β˜†2025β†’ Residue 35
View on ClinVar β†—
Related Genes
TTC17Shared pathway71%FAM161BShared pathway50%TSGA10IPShared pathway50%TTC29Shared pathway33%ARMC2Shared pathway33%CFAP126Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
79%
Ovary
25%
Liver
22%
Brain
19%
Heart
2%
Gene Interaction Network
Click a node to explore
CATIPTTC17FAM161BTSGA10IPTTC29ARMC2CFAP126
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q7Z7H3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.14LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.87 [0.66–1.14]
RankingsWhere CATIP stands among ~20K protein-coding genes
  • #17,011of 20,598
    Most Researched10
  • #5,475of 5,498
    Most Pathogenic Variants1
  • #11,891of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedCATIP
Sources retrieved7 papers
Response timeβ€”
πŸ“„ Sources
7β–Ό
1
Haploid-genetic screening of trophectoderm specification identifies
PMID: 38117886
Sci Adv Β· 2023
1.00
2
In Silico Analysis Identifies Differently Expressed lncRNAs as Novel Biomarkers for the Prognosis of Thyroid Cancer.
PMID: 32377223
Comput Math Methods Med Β· 2020
0.86
3
Mutation in
PMID: 32503832
J Med Genet Β· 2020
0.71
4
C2orf62 and TTC17 are involved in actin organization and ciliogenesis in zebrafish and human.
PMID: 24475127
PLoS One Β· 2014
0.57
5
Age and gender correlates of pulling in pediatric trichotillomania.
PMID: 23452681
J Am Acad Child Adolesc Psychiatry Β· 2013
0.43