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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SMC1B
structural maintenance of chromosomes 1B
Chromosome 22 · 22q13.31
NCBI Gene: 27127Ensembl: ENSG00000077935.18HGNC: HGNC:11112UniProt: Q8NDV3
25PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmmeiotic cohesin complexsister chromatid cohesionnucleustooth diseasegenetic non-acquired premature ovarian failuremale reproductive system diseasemyoepithelial tumor
✦AI Summary

SMC1B (structural maintenance of chr22 1B) is a meiosis-specific cohesin component essential for reproductive function. As part of the meiotic cohesin complex, SMC1B maintains sister chr22 cohesion, facilitates axial element formation, and organizes chr22 loops critical for proper synapsis and homologous recombination 1. SMC1B expression decreases with advancing maternal age, correlating with reduced embryonic gene expression of genes important for meiotic chr22 segregation 2. Functionally, common genetic variation in SMC1B is significantly associated with both crossover recombination frequency and maternal meiotic aneuploidy risk through non-coding cis-regulatory mechanisms, establishing a shared genetic basis between recombination fidelity and chromosome 22 errors 34. Notably, SMC1B is also expressed in somatic cells where it contributes to genome stability following DNA damage and regulates transcription of clustered genes 5. Clinical relevance is demonstrated by mutations in SMC1B causing primary ovarian insufficiency and infertility 6, and a heterozygous missense variant associated with severe necrozoospermia and sperm DNA fragmentation 7. Additionally, SMC1B regulation by the RNA-binding protein DAZL is critical for oocyte development 1.

Sources cited
1
SMC1B is a novel DAZL target in human fetal ovary involved in chromosome cohesion and DNA recombination; DAZL stimulates SMC1B translation
PMID: 28364521
2
SMC1B expression decreases with increasing maternal age in human blastocysts, correlating with reduced expression of genes important for meiotic chromosomal segregation
PMID: 29402920
3
Common haplotype spanning meiotic cohesin SMC1B is significantly associated with both crossover count and maternal meiotic aneuploidy through non-coding cis-regulatory mechanism
PMID: 41565805
4
SMC1B genetic variation is associated with crossover recombination phenotypes and aneuploidy risk through cis-regulatory mechanisms affecting meiotic fidelity
PMID: 40321295
5
SMC1B is expressed in somatic mammalian cells, safeguards genome stability following irradiation, and regulates transcription of clustered genes
PMID: 26673124
6
SMC1B mutations are rarely implicated in primary ovarian insufficiency etiology in women
PMID: 34794894
7
Heterozygous missense variant in SMC1B (c.1856G>T; p.C619F) causes severe necrozoospermia with abnormal sperm morphology, reduced SMC1B protein expression, and high sperm DNA fragmentation
PMID: 40180776
Disease Associationsⓘ20
tooth diseaseOpen Targets
0.27Weak
genetic non-acquired premature ovarian failureOpen Targets
0.26Weak
male reproductive system diseaseOpen Targets
0.24Weak
myoepithelial tumorOpen Targets
0.11Weak
azoospermiaOpen Targets
0.10Weak
denturesOpen Targets
0.10Weak
partial chromosome Y deletionOpen Targets
0.10Suggestive
spermatogenic failure 61Open Targets
0.09Suggestive
spermatogenic failure 62Open Targets
0.09Suggestive
spermatogenic failure 88Open Targets
0.09Suggestive
spermatogenic failure 59Open Targets
0.09Suggestive
spermatogenic failure 60Open Targets
0.09Suggestive
spermatogenic failure 73Open Targets
0.09Suggestive
spermatogenic failure 74Open Targets
0.09Suggestive
spermatogenic failure 48Open Targets
0.09Suggestive
spermatogenic failure 50Open Targets
0.09Suggestive
spermatogenic failure 57Open Targets
0.09Suggestive
spermatogenic failure 25Open Targets
0.09Suggestive
hypertrophic cardiomyopathyOpen Targets
0.09Suggestive
Female infertility due to fertilization defectOpen Targets
0.09Suggestive
Pathogenic Variants1
NM_148674.5(SMC1B):c.863A>G (p.Glu288Gly)Likely pathogenic
Genetic non-acquired premature ovarian failure
☆☆☆☆2019→ Residue 288
View on ClinVar ↗
Related Genes
NCAPGProtein interaction100%SYCE2Protein interaction100%ESPL1Protein interaction100%STAG1Protein interaction100%STAG2Protein interaction100%PDS5BProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
83%
Liver
12%
Ovary
9%
Lung
7%
Heart
0%
Gene Interaction Network
Click a node to explore
SMC1BNCAPGSYCE2ESPL1STAG1STAG2PDS5B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8NDV3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.53Moderately Constrained
pLIⓘ
0.07Tolerant
Observed/Expected LoF0.42 [0.33–0.53]
RankingsWhere SMC1B stands among ~20K protein-coding genes
  • #13,078of 20,598
    Most Researched25
  • #5,319of 5,498
    Most Pathogenic Variants1
  • #3,354of 17,882
    Most Constrained (LOEUF)0.53 · top quartile
Genes detectedSMC1B
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab · 2022
1.00
2
Parental age and gene expression profiles in individual human blastocysts.
PMID: 29402920
Sci Rep · 2018
0.90
3
Common variation in meiosis genes shapes human recombination and aneuploidy.
PMID: 41565805
Nature · 2026
0.80
4
SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins.
PMID: 26673124
Sci Rep · 2015
0.70
5
Common variation in meiosis genes shapes human recombination phenotypes and aneuploidy risk.
PMID: 40321295
medRxiv · 2025
0.60