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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.
STAMBP
STAM binding protein
Chromosome 2 Β· 2p13.1
NCBI Gene: 10617Ensembl: ENSG00000124356.17HGNC: HGNC:16950UniProt: A0A140VK54
123PubMed Papers
21Diseases
0Drugs
27Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitotic cytokinesisprotein deubiquitinationprotein bindingprotein domain specific bindingmicrocephaly-capillary malformation syndromeneurodegenerative diseasegenetic disorderbreast carcinoma
✦AI Summary

STAMBP (STAM-binding protein) is a zinc metalloprotease that specifically cleaves Lys-63-linked polyubiquitin chains 1, functioning as a deubiquitinating enzyme critical for cellular homeostasis and signaling. Its primary role involves regulating cell surface receptor-mediated endocytosis and ubiquitin-dependent sorting to lysosomes, with endosomal localization required for efficient EGFR degradation 1. STAMBP potentiates bone morphogenetic protein signaling by antagonizing SMAD6/7 inhibition 2 and negatively regulates PI3K-AKT-mTOR and RAS-MAP signaling pathways 3. In cancer contexts, STAMBP promotes metastasis and chemotherapy resistance; elevated expression in breast and lung adenocarcinomas correlates with poor prognosis and predicts adverse outcomes 45. In pancreatic cancer, STAMBP enhances gemcitabine resistance by promoting the Warburg effect through the STAMBP-E2F1-PDK1 axis 6. Biallelic STAMBP mutations cause microcephaly-capillary malformation syndrome, characterized by progressive microcephaly, postnatal growth retardation, neuronal death in hippocampus and cortex, and ubiquitinated protein aggregation 7. AAV-mediated gene replacement therapy rescues these neurological defects in preclinical models, providing therapeutic potential 7. Additionally, STAMBP dysregulation associates with immune dysregulation in chr2 HIV-1 infection and serves as a validated biomarker in myasthenia gravis 89.

Sources cited
1
STAMBP specifically cleaves Lys-63-linked polyubiquitin chains and its endosomal localization is required for efficient EGFR degradation
PMID: 15314065
2
STAMBP potentiates BMP signaling by antagonizing SMAD6 and SMAD7 inhibitory action
PMID: 11483516
3
STAMBP is involved in negative regulation of PI3K-AKT-mTOR and RAS-MAP signaling pathways
PMID: 23542699
4
High STAMBP expression in breast cancer predicts poor overall survival and is associated with tumor progression
PMID: 36309616
5
STAMBP promotes lung adenocarcinoma metastasis by regulating EGFR/MAPK signaling and predicts poor prognosis
PMID: 34102455
6
STAMBP enhances gemcitabine resistance in pancreatic cancer through the STAMBP-E2F1-PDK1 axis promoting the Warburg effect
PMID: 39242557
7
Biallelic STAMBP mutations cause microcephaly-capillary malformation syndrome with neuronal death and protein aggregation; AAV gene therapy rescues defects
PMID: 39169623
8
STAMBP is associated with T cell immune recovery and negatively correlated with HIV-1 reservoir size in chronic HIV-1 infection
PMID: 36408648
9
STAMBP is validated as a myasthenia gravis-specific serum proteomic biomarker
PMID: 41235764
Disease Associationsβ“˜21
microcephaly-capillary malformation syndromeOpen Targets
0.81Strong
neurodegenerative diseaseOpen Targets
0.43Moderate
genetic disorderOpen Targets
0.19Weak
breast carcinomaOpen Targets
0.15Weak
melanomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
Romano-Ward syndromeOpen Targets
0.08Suggestive
pachyonychia congenitaOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
colitisOpen Targets
0.08Suggestive
Familial short QT syndromeOpen Targets
0.08Suggestive
dry eye syndromeOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
Brugada syndromeOpen Targets
0.07Suggestive
atrial fibrillationOpen Targets
0.07Suggestive
familial atrial fibrillationOpen Targets
0.06Suggestive
lung cancerOpen Targets
0.06Suggestive
lung adenocarcinomaOpen Targets
0.06Suggestive
chronic fatigue syndromeOpen Targets
0.06Suggestive
GranulomaOpen Targets
0.06Suggestive
Microcephaly-capillary malformation syndromeUniProt
Pathogenic Variants27
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys)Pathogenic
Microcephaly-capillary malformation syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 38
NM_213622.4(STAMBP):c.232C>T (p.Arg78Ter)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 78
NM_213622.4(STAMBP):c.279+5G>TPathogenic
Microcephaly-capillary malformation syndrome|not provided|Ovarian serous cystadenocarcinoma
β˜…β˜…β˜†β˜†2024
NM_213622.4(STAMBP):c.418C>T (p.Gln140Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 140
NM_213622.4(STAMBP):c.125A>G (p.Glu42Gly)Likely pathogenic
Microcephaly-capillary malformation syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 42
NM_213622.4(STAMBP):c.532C>T (p.Arg178Ter)Pathogenic
Microcephaly-capillary malformation syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 178
NM_213622.4(STAMBP):c.230A>G (p.His77Arg)Likely pathogenic
not provided|STAMBP-related disorder
β˜…β˜…β˜†β˜†2022β†’ Residue 77
NM_213622.4(STAMBP):c.1270C>T (p.Arg424Ter)Pathogenic
Microcephaly-capillary malformation syndrome|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 424
NM_213622.4(STAMBP):c.1119-6T>GLikely pathogenic
Microcephaly-capillary malformation syndrome
β˜…β˜…β˜†β˜†2020
NM_213622.4(STAMBP):c.133C>T (p.Arg45Ter)Likely pathogenic
Microcephaly-capillary malformation syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 45
NM_213622.4(STAMBP):c.376-1G>ALikely pathogenic
Microcephaly-capillary malformation syndrome
β˜…β˜†β˜†β˜†2025
NM_213622.4(STAMBP):c.1006-2A>TLikely pathogenic
Microcephaly-capillary malformation syndrome
β˜…β˜†β˜†β˜†2023
NM_213622.4(STAMBP):c.5_6dup (p.Asp3fs)Pathogenic
Microcephaly-capillary malformation syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 3
NM_213622.4(STAMBP):c.203+5G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_213622.4(STAMBP):c.868-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_213622.4(STAMBP):c.487dup (p.His163fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 163
NM_213622.4(STAMBP):c.337C>T (p.Arg113Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 113
NM_213622.4(STAMBP):c.1214del (p.Phe405fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 405
NM_213622.4(STAMBP):c.843_844del (p.Cys282fs)Pathogenic
Microcephaly-capillary malformation syndrome
β˜…β˜†β˜†β˜†2018β†’ Residue 282
NM_213622.4(STAMBP):c.503_524del (p.Met168fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 168
View on ClinVar β†—
Related Genes
PSMD14Protein interaction100%PSMD12Protein interaction100%UCHL5Protein interaction100%PSMD4Protein interaction100%CHMP6Protein interaction100%CHMP2AProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
64%
Ovary
50%
Lung
43%
Liver
43%
Bone Marrow
34%
Gene Interaction Network
Click a node to explore
STAMBPPSMD14PSMD12UCHL5PSMD4CHMP6CHMP2A
PROTEIN STRUCTURE
Preparing viewer…
PDB3RZV Β· 1.67 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.83LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.61 [0.45–0.83]
RankingsWhere STAMBP stands among ~20K protein-coding genes
  • #3,839of 20,598
    Most Researched123 Β· top quartile
  • #1,893of 5,498
    Most Pathogenic Variants27
  • #7,065of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedSTAMBP
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
AAV-mediated Stambp gene replacement therapy rescues neurological defects in a mouse model of microcephaly-capillary malformation syndrome.
PMID: 39169623
Mol Ther Β· 2024
1.00
2
Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.
PMID: 27454254
BMC Genomics Β· 2016
0.90
3
Integrated proteomics and genomics analysis of paradoxical eczema in psoriasis patients treated with biologics.
PMID: 37536512
J Allergy Clin Immunol Β· 2023
0.80
4
Identification of STAM-binding protein as a target for the treatment of gemcitabine resistance pancreatic cancer in a nutrient-poor microenvironment.
PMID: 39242557
Cell Death Dis Β· 2024
0.70
5
Distinct inflammation-related proteins associated with T cell immune recovery during chronic HIV-1 infection.
PMID: 36408648
Emerg Microbes Infect Β· 2023
0.60