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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SCML2
Scm polycomb group protein like 2
Chromosome X · Xp22.13
NCBI Gene: 10389Ensembl: ENSG00000102098.20HGNC: HGNC:10581UniProt: Q9UQR0
60PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
anatomical structure morphogenesisprotein bindingnucleusPcG protein complexneurodegenerative diseaseazoospermiapartial chromosome Y deletionspermatogenic failure, X-linked, 2
✦AI Summary

SCML2 encodes a germline-specific Polycomb group protein that plays critical roles in spermatogenesis and chrX regulation. The protein functions as a key regulator of heterochromatin organization during male germ cell development, where it accumulates on pericentromeric heterochromatin and suppresses PRC1-mediated H2A ubiquitination while promoting H3K27 methylation 1. SCML2 cooperates with RNF8 to regulate histone modifications during meiosis, specifically deubiquitinating H2AK119ub to establish active chrX marks like H3K27 acetylation necessary for sex chromosome X activation 2. The protein contains a unique DNA-binding domain called SCML2 DNA-binding (SDB) repeats that evolved rapidly in rodents and enables chrX binding, particularly to hypomethylated regions 3. Structurally, SCML2 possesses a conserved SLED domain that adopts a novel α/β fold and binds double-stranded DNA in a sequence-specific manner 4. Clinically, SCML2 variants have been identified in patients with primary male infertility, highlighting its importance for reproductive function 5. Additionally, SCML2 interacts with YAP1 in response to androgen signaling and is aberrantly expressed in hepatocellular carcinoma, where it promotes tumor progression through Wnt/β-catenin signaling 67.

Sources cited
1
SCML2 accumulates on pericentromeric heterochromatin and regulates PRC1/PRC2-mediated histone modifications during spermatogenesis
PMID: 30097555
2
SCML2 cooperates with RNF8 to deubiquitinate H2AK119ub and establish H3K27 acetylation for sex chromosome gene activation
PMID: 29462142
3
SCML2 contains rapidly evolved SDB repeats that enable chromatin binding to hypomethylated regions
PMID: 30137219
4
SCML2 possesses a SLED domain with novel α/β fold that binds double-stranded DNA sequence-specifically
PMID: 24727478
5
SCML2 variants identified in patients with primary male infertility
PMID: 39267058
6
SCML2 interacts with YAP1 in response to androgen signaling
PMID: 37810219
7
SCML2 is overexpressed in hepatocellular carcinoma and promotes tumor progression via Wnt/β-catenin signaling
PMID: 34816637
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.31Weak
azoospermiaOpen Targets
0.10Weak
partial chromosome Y deletionOpen Targets
0.09Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.08Suggestive
spermatogenic failure 71Open Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
spermatogenic failure 61Open Targets
0.08Suggestive
spermatogenic failure 62Open Targets
0.08Suggestive
spermatogenic failure 88Open Targets
0.08Suggestive
spermatogenic failure 59Open Targets
0.08Suggestive
spermatogenic failure 60Open Targets
0.08Suggestive
spermatogenic failure 73Open Targets
0.08Suggestive
spermatogenic failure 74Open Targets
0.08Suggestive
spermatogenic failure 48Open Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
isochromosomy YpOpen Targets
0.08Suggestive
spermatogenic failure 12Open Targets
0.07Suggestive
spermatogenic failure 63Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CST6Shared pathway100%GSC2Shared pathway100%HOXC13Shared pathway100%LBX1Shared pathway100%SUZ12Protein interaction100%CBX8Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
36%
Brain
17%
Liver
10%
Heart
7%
Lung
4%
Gene Interaction Network
Click a node to explore
SCML2CST6GSC2HOXC13LBX1SUZ12CBX8
PROTEIN STRUCTURE
Preparing viewer…
PDB2BIV · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.24Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.12 [0.07–0.24]
RankingsWhere SCML2 stands among ~20K protein-coding genes
  • #7,708of 20,598
    Most Researched60
  • #731of 17,882
    Most Constrained (LOEUF)0.24 · top 5%
Genes detectedSCML2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Whole exome sequencing analysis of 167 men with primary infertility.
PMID: 39267058
BMC Med Genomics · 2024
1.00
2
RNF8 and SCML2 cooperate to regulate ubiquitination and H3K27 acetylation for escape gene activation on the sex chromosomes.
PMID: 29462142
PLoS Genet · 2018
0.90
3
Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22.
PMID: 10331946
Genomics · 1999
0.80
4
Discordant interactions between YAP1 and polycomb group protein SCML2 determine cell fate.
PMID: 37810219
iScience · 2023
0.70
5
SCML2 promotes heterochromatin organization in late spermatogenesis.
PMID: 30097555
J Cell Sci · 2018
0.60