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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NCKIPSD
NCK interacting protein with SH3 domain
Chromosome 3 · 3p21.31
NCBI Gene: 51517Ensembl: ENSG00000213672.9HGNC: HGNC:15486UniProt: Q9NZQ3
61PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Oncogene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingCOP9 signalosomenucleoplasmendocytosisendometrial cancermelanomalung adenocarcinomanon-small cell lung carcinoma
✦AI Summary

NCKIPSD (NCK interacting protein with SH3 domain) is a cytoskeletal regulatory protein with multiple roles in actin dynamics and cellular processes. Functionally, NCKIPSD stimulates N-WASP-induced Arp2/3 complex activation independent of CDC42, promoting linear actin filament nucleation and microspike formation 1. The protein contains SH3 and proline-rich domains that facilitate interactions with dynamin and other endocytic proteins, linking endocytosis to actin dynamics 2. NCKIPSD plays important roles in stress fiber formation, sarcomere assembly, and angiogenesis through regulation of actin polymerization and cell adhesion. Genetically, NCKIPSD has been implicated in multiple complex diseases. A rare protein-coding variant (rs145562243) in NCKIPSD was identified as exome-wide significant for leprosy susceptibility (OR=4.35) in Han Chinese populations, highlighting involvement of endocytosis/autophagy pathways in disease pathogenesis 3. NCKIPSD was identified as a shared genetic risk gene for anxiety and stroke through genome-wide association meta-analysis 4, and as a candidate gene associated with hand osteoarthritis in transcriptome-wide association studies 5. Additionally, NCKIPSD was identified as a potential target in structural variant fine-mapping of anorexia nervosa loci 6. The gene's role in colon cancer metastasis has been suggested through its involvement in Rho signaling pathway regulation downstream of transgelin-PARP1 interactions 7.

Sources cited
1
SPIN90 (NCKIPSD-related protein) activates Arp2/3 complex independently of preexisting filaments to promote linear actin-filament nucleation
PMID: 40954370
2
SPIN90/WISH (related to NCKIPSD) is a dynamin-binding protein that links endocytosis to actin dynamics through SH3 domain interactions
PMID: 17220534
3
Rare variant rs145562243 in NCKIPSD is exome-wide significant for leprosy susceptibility (P=1.71×10⁻⁹, OR=4.35) in Han Chinese populations
PMID: 28842327
4
NCKIPSD identified as shared genetic risk gene for anxiety and stroke through genome-wide association meta-analysis
PMID: 39681175
5
NCKIPSD identified through transcriptome-wide association study as candidate gene for hand osteoarthritis (P=0.0003 in blood)
PMID: 33691763
6
NCKIPSD identified in short structural variant fine-mapping of anorexia nervosa genome-wide associated loci
PMID: 35470453
7
NCKIPSD identified as key gene in Rho signaling pathway regulated downstream of transgelin-PARP1 interactions in colon cancer metastasis
PMID: 32774160
Disease Associationsⓘ20
endometrial cancerOpen Targets
0.20Weak
lung adenocarcinomaOpen Targets
0.19Weak
melanomaOpen Targets
0.19Weak
non-small cell lung carcinomaOpen Targets
0.19Weak
urinary bladder carcinomaOpen Targets
0.19Weak
Atypical Endometrial HyperplasiaOpen Targets
0.18Weak
bladder transitional cell carcinomaOpen Targets
0.18Weak
brain glioblastomaOpen Targets
0.18Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.18Weak
clear cell renal carcinomaOpen Targets
0.18Weak
colorectal adenocarcinomaOpen Targets
0.18Weak
Eccrine PorocarcinomaOpen Targets
0.18Weak
esophageal adenocarcinomaOpen Targets
0.18Weak
gastric adenocarcinomaOpen Targets
0.18Weak
gastric carcinomaOpen Targets
0.18Weak
gastrointestinal stromal tumorOpen Targets
0.18Weak
prostate adenocarcinomaOpen Targets
0.18Weak
pulmonary large cell neuroendocrine carcinomaOpen Targets
0.18Weak
small cell lung carcinomaOpen Targets
0.18Weak
squamous cell lung carcinomaOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GRB2Protein interaction100%ACTG1Protein interaction98%ACTR3BProtein interaction97%ACTR3CProtein interaction97%ARPC5LProtein interaction96%WASProtein interaction92%
Tissue Expression6 tissues
Ovary
100%
Heart
77%
Brain
65%
Lung
47%
Liver
46%
Bone Marrow
25%
Gene Interaction Network
Click a node to explore
NCKIPSDGRB2ACTG1ACTR3BACTR3CARPC5LWAS
PROTEIN STRUCTURE
Preparing viewer…
PDB6DED · 2.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.55–0.89]
RankingsWhere NCKIPSD stands among ~20K protein-coding genes
  • #7,584of 20,598
    Most Researched61
  • #7,911of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedNCKIPSD
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Investigating the shared genetic architecture between anxiety and stroke.
PMID: 39681175
Behav Brain Res · 2025
1.00
2
Integrating transcriptome-wide association study and mRNA expression profile identified candidate genes related to hand osteoarthritis.
PMID: 33691763
Arthritis Res Ther · 2021
0.90
3
Bridging the gap: Short structural variants in the genetics of anorexia nervosa.
PMID: 35470453
Int J Eat Disord · 2022
0.80
4
Transgelin interacts with PARP1 in human colon cancer cells.
PMID: 32774160
Cancer Cell Int · 2020
0.70
5
Genome-Wide Analysis of Protein-Coding Variants in Leprosy.
PMID: 28842327
J Invest Dermatol · 2017
0.60