SPIN2B
gene geneOn this page
Also known as SPIN-2TDRD26
Summary
SPIN2B (spindlin family member 2B, HGNC:33147) is a protein-coding gene on chromosome Xp11.21, encoding Spindlin-2B (Q9BPZ2). Involved in the regulation of cell cycle progression, this activity is related to the inhibition of apoptosis following the removal of essential growth factors.
Enables methylated histone binding activity. Predicted to be involved in regulation of DNA-templated transcription. Located in cytosol and nucleoplasm.
Source: NCBI Gene 474343 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 13 total
- Druggable target: yes
- MANE Select transcript:
NM_001006681
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:33147 |
| Approved symbol | SPIN2B |
| Name | spindlin family member 2B |
| Location | Xp11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SPIN-2, TDRD26 |
| Ensembl gene | ENSG00000186787 |
| Ensembl biotype | protein_coding |
| OMIM | 300517 |
| Entrez | 474343 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 15 protein_coding
ENST00000275988, ENST00000333933, ENST00000374910, ENST00000434397, ENST00000460948, ENST00000867875, ENST00000867876, ENST00000867877, ENST00000867878, ENST00000867879, ENST00000867880, ENST00000867881, ENST00000867882, ENST00000936879, ENST00000947950
RefSeq mRNA: 5 — MANE Select: NM_001006681
NM_001006681, NM_001006682, NM_001006683, NM_001282461, NM_001282462
CCDS: CCDS35311, CCDS65274
Canonical transcript exons
ENST00000434397 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001600116 | 57119682 | 57120631 |
| ENSE00001757041 | 57121238 | 57121548 |
Expression profiles
Bgee: expression breadth ubiquitous, 136 present calls, max score 93.02.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.1704 / max 51.7022, expressed in 1718 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 199427 | 7.1581 | 1701 |
| 199426 | 1.0122 | 617 |
Top tissues by expression
136 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.02 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.22 | gold quality |
| hypothalamus | UBERON:0001898 | 86.10 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 85.23 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 85.07 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 85.05 | gold quality |
| right frontal lobe | UBERON:0002810 | 85.04 | gold quality |
| prefrontal cortex | UBERON:0000451 | 85.02 | gold quality |
| frontal cortex | UBERON:0001870 | 85.00 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 84.92 | gold quality |
| fundus of stomach | UBERON:0001160 | 84.77 | gold quality |
| right coronary artery | UBERON:0001625 | 84.77 | gold quality |
| cerebral cortex | UBERON:0000956 | 84.76 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 84.75 | gold quality |
| substantia nigra | UBERON:0002038 | 84.63 | gold quality |
| apex of heart | UBERON:0002098 | 84.52 | gold quality |
| primary visual cortex | UBERON:0002436 | 84.48 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 84.35 | gold quality |
| ascending aorta | UBERON:0001496 | 84.30 | gold quality |
| thoracic aorta | UBERON:0001515 | 84.28 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 84.28 | gold quality |
| popliteal artery | UBERON:0002250 | 84.12 | gold quality |
| left coronary artery | UBERON:0001626 | 84.11 | gold quality |
| tibial artery | UBERON:0007610 | 84.10 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 84.08 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 84.05 | gold quality |
| lower esophagus | UBERON:0013473 | 84.03 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 84.02 | gold quality |
| brain | UBERON:0000955 | 83.89 | gold quality |
| Ammon’s horn | UBERON:0001954 | 83.61 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-4850 | no | 1181.89 |
| E-ENAD-17 | no | 207.68 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
30 targeting SPIN2B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-3618 | 99.69 | 68.57 | 1012 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-4666B | 99.64 | 68.69 | 1282 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-488-3P | 99.61 | 68.79 | 1731 |
| HSA-MIR-3128 | 99.50 | 67.85 | 1258 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-100-3P | 99.20 | 67.33 | 672 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-3149 | 98.77 | 67.13 | 1639 |
| HSA-MIR-455-5P | 98.74 | 67.31 | 795 |
| HSA-MIR-4709-5P | 98.51 | 67.25 | 1335 |
| HSA-MIR-934 | 98.49 | 70.44 | 581 |
| HSA-MIR-10395-3P | 98.10 | 66.70 | 1726 |
| HSA-MIR-6730-5P | 98.03 | 68.12 | 1299 |
| HSA-MIR-5681A | 97.99 | 67.17 | 1658 |
| HSA-MIR-9851-5P | 97.57 | 67.49 | 1067 |
| HSA-MIR-1227-3P | 97.36 | 66.94 | 834 |
| HSA-MIR-101-5P | 96.84 | 65.66 | 649 |
| HSA-MIR-125B-2-3P | 96.69 | 68.38 | 1210 |
| HSA-MIR-12128 | 96.67 | 66.98 | 1471 |
Literature-anchored findings (GeneRIF, showing 1)
- SERPINA3K is a high-affinity, endogenous antagonist of LRP6 (PMID:20351274)
Cross-species orthologs
112 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | spinb | ENSDARG00000035697 |
| danio_rerio | spina | ENSDARG00000058949 |
| mus_musculus | Gm21719 | ENSMUSG00000079806 |
| mus_musculus | Gm21292 | ENSMUSG00000091077 |
| mus_musculus | Gm20865 | ENSMUSG00000093848 |
| mus_musculus | Gm20809 | ENSMUSG00000093868 |
| mus_musculus | Gm21454 | ENSMUSG00000093903 |
| mus_musculus | Gm20918 | ENSMUSG00000093927 |
| mus_musculus | Gm20823 | ENSMUSG00000093950 |
| mus_musculus | Gm21118 | ENSMUSG00000094052 |
| mus_musculus | Gm20826 | ENSMUSG00000094081 |
| mus_musculus | Gm20909 | ENSMUSG00000094294 |
| mus_musculus | Gm20831 | ENSMUSG00000094325 |
| mus_musculus | Gm21244 | ENSMUSG00000094484 |
| mus_musculus | Gm20821 | ENSMUSG00000094556 |
| mus_musculus | Gm20738 | ENSMUSG00000094575 |
| mus_musculus | Gm21394 | ENSMUSG00000094660 |
| mus_musculus | Gm21721 | ENSMUSG00000094679 |
| mus_musculus | Gm20747 | ENSMUSG00000094729 |
| mus_musculus | Gm20806 | ENSMUSG00000094739 |
| mus_musculus | Gm21812 | ENSMUSG00000094773 |
| mus_musculus | Gm20777 | ENSMUSG00000094813 |
| mus_musculus | Gm20828 | ENSMUSG00000094838 |
| mus_musculus | Gm21310 | ENSMUSG00000095032 |
| mus_musculus | Gm20873 | ENSMUSG00000095148 |
| mus_musculus | Gm20822 | ENSMUSG00000095172 |
| mus_musculus | Gm20834 | ENSMUSG00000095242 |
| mus_musculus | Ssty1 | ENSMUSG00000095267 |
| mus_musculus | Ssty2 | ENSMUSG00000095302 |
| mus_musculus | Gm20825 | ENSMUSG00000095324 |
| mus_musculus | Gm20795 | ENSMUSG00000095452 |
| mus_musculus | Gm20812 | ENSMUSG00000095508 |
| mus_musculus | Gm20877 | ENSMUSG00000095520 |
| mus_musculus | Gm20816 | ENSMUSG00000095634 |
| mus_musculus | Gm20854 | ENSMUSG00000095650 |
| mus_musculus | Gm20924 | ENSMUSG00000095785 |
| mus_musculus | Gm20917 | ENSMUSG00000095867 |
| mus_musculus | Gm20773 | ENSMUSG00000095900 |
| mus_musculus | Gm20737 | ENSMUSG00000095950 |
| mus_musculus | Gm21778 | ENSMUSG00000096036 |
| mus_musculus | Gm21943 | ENSMUSG00000096122 |
| mus_musculus | Gm21874 | ENSMUSG00000096223 |
| mus_musculus | Gm20914 | ENSMUSG00000096268 |
| mus_musculus | Gm20852 | ENSMUSG00000096666 |
| mus_musculus | Gm20830 | ENSMUSG00000096686 |
| mus_musculus | Gm21854 | ENSMUSG00000096706 |
| mus_musculus | Gm21425 | ENSMUSG00000096820 |
| mus_musculus | Gm20867 | ENSMUSG00000096898 |
| mus_musculus | Gm29049 | ENSMUSG00000099861 |
| mus_musculus | Gm29424 | ENSMUSG00000099948 |
| mus_musculus | Gm28171 | ENSMUSG00000100634 |
| mus_musculus | Gm20815 | ENSMUSG00000101053 |
| mus_musculus | Gm20772 | ENSMUSG00000102739 |
| mus_musculus | Gm21440 | ENSMUSG00000103468 |
| mus_musculus | Gm20807 | ENSMUSG00000104267 |
| rattus_norvegicus | LOC134486221 | ENSRNOG00000048867 |
| rattus_norvegicus | LOC134486240 | ENSRNOG00000049619 |
| rattus_norvegicus | LOC120099686 | ENSRNOG00000064259 |
| rattus_norvegicus | ENSRNOG00000065734 | |
| rattus_norvegicus | LOC134486234 | ENSRNOG00000067676 |
| rattus_norvegicus | ENSRNOG00000068289 | |
| rattus_norvegicus | LOC134484257 | ENSRNOG00000069646 |
| rattus_norvegicus | Ssty1-ps5 | ENSRNOG00000070707 |
| rattus_norvegicus | ENSRNOG00000072094 | |
| rattus_norvegicus | ENSRNOG00000072522 | |
| rattus_norvegicus | ENSRNOG00000072683 | |
| rattus_norvegicus | ENSRNOG00000072719 | |
| rattus_norvegicus | ENSRNOG00000073240 | |
| rattus_norvegicus | ENSRNOG00000073388 | |
| rattus_norvegicus | ENSRNOG00000073718 | |
| rattus_norvegicus | ENSRNOG00000074289 | |
| rattus_norvegicus | ENSRNOG00000074627 | |
| rattus_norvegicus | ENSRNOG00000075048 | |
| rattus_norvegicus | ENSRNOG00000075217 | |
| rattus_norvegicus | ENSRNOG00000075704 | |
| rattus_norvegicus | ENSRNOG00000075715 | |
| rattus_norvegicus | ENSRNOG00000076756 | |
| rattus_norvegicus | ENSRNOG00000076768 | |
| rattus_norvegicus | ENSRNOG00000077163 | |
| rattus_norvegicus | ENSRNOG00000077684 | |
| rattus_norvegicus | ENSRNOG00000077860 | |
| ENSRNOG00000078153 | ||
| rattus_norvegicus | ENSRNOG00000078247 | |
| rattus_norvegicus | ENSRNOG00000078425 | |
| rattus_norvegicus | ENSRNOG00000078859 | |
| rattus_norvegicus | ENSRNOG00000079273 | |
| rattus_norvegicus | ENSRNOG00000079973 | |
| rattus_norvegicus | ENSRNOG00000080258 | |
| rattus_norvegicus | ENSRNOG00000082759 | |
| rattus_norvegicus | ENSRNOG00000083031 | |
| rattus_norvegicus | ENSRNOG00000083094 | |
| rattus_norvegicus | ENSRNOG00000083348 | |
| rattus_norvegicus | ENSRNOG00000083477 | |
| ENSRNOG00000084216 | ||
| rattus_norvegicus | ENSRNOG00000084517 | |
| rattus_norvegicus | ENSRNOG00000084670 | |
| rattus_norvegicus | ENSRNOG00000084696 | |
| ENSRNOG00000085197 | ||
| rattus_norvegicus | ENSRNOG00000085381 | |
| rattus_norvegicus | ENSRNOG00000085696 | |
| rattus_norvegicus | ENSRNOG00000085874 | |
| rattus_norvegicus | ENSRNOG00000086556 | |
| rattus_norvegicus | ENSRNOG00000088152 | |
| rattus_norvegicus | ENSRNOG00000088255 | |
| rattus_norvegicus | ENSRNOG00000088275 | |
| rattus_norvegicus | ENSRNOG00000089025 | |
| rattus_norvegicus | ENSRNOG00000089042 | |
| rattus_norvegicus | ENSRNOG00000089633 | |
| rattus_norvegicus | ENSRNOG00000089769 | |
| rattus_norvegicus | ENSRNOG00000089859 | |
| rattus_norvegicus | ENSRNOG00000089969 | |
| rattus_norvegicus | ENSRNOG00000090248 |
Paralogs (4): SPIN1 (ENSG00000106723), SPIN2A (ENSG00000147059), SPIN4 (ENSG00000186767), SPIN3 (ENSG00000204271)
Protein
Protein identifiers
Spindlin-2B — Q9BPZ2 (reviewed: Q9BPZ2)
Alternative names: Spindlin-like protein 2B
All UniProt accessions (4): Q9BPZ2, A0A1B0GU50, Q5JZB7, Q5JZB8
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the regulation of cell cycle progression, this activity is related to the inhibition of apoptosis following the removal of essential growth factors. Exhibits H3K4me3-binding activity.
Subunit / interactions. Interacts with C11orf84/SPINDOC.
Subcellular location. Nucleus.
Tissue specificity. Detected in all the examined tissues with highest expression in liver, followed by heart, stomach, kidney, skeletal muscle, placenta, and pancreas.
Miscellaneous. Overexpression in murine myeloid cell line 32Dcl3 causes G2/M arrest.
Similarity. Belongs to the SPIN/STSY family.
RefSeq proteins (5): NP_001006682, NP_001006683, NP_001006684, NP_001269390, NP_001269391 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003671 | SPIN/Ssty | Family |
| IPR042567 | SPIN/Ssty_sf | Homologous_superfamily |
Pfam: PF02513
UniProt features (30 total): strand 15, region of interest 6, site 3, helix 2, compositionally biased region 2, chain 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5LUG | X-RAY DIFFRACTION | 1.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BPZ2-F1 | 81.78 | 0.66 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (3): 176 (histone h3k4me3 and h3r8me2a binding); 180 (histone h3k4me3 and h3r8me2a binding); 169 (histone h3k4me3 and h3r8me2a binding)
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 33 (showing top):
GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, chrXp11, GRYDER_PAX3FOXO1_ENHANCERS_KO_DOWN, FORTSCHEGGER_PHF8_TARGETS_DN, HMGA1_TARGET_GENES, SKIL_TARGET_GENES, ZNF322_TARGET_GENES, ZNF407_TARGET_GENES, MIR8485, MIR9983_3P, MIR1283, MIR9851_5P, MIR3618, MIR934, MIR101_5P
GO Biological Process (4): regulation of DNA-templated transcription (GO:0006355), apoptotic process (GO:0006915), gamete generation (GO:0007276), chromatin organization (GO:0006325)
GO Molecular Function (2): histone H3K4me3 reader activity (GO:0140002), protein binding (GO:0005515)
GO Cellular Component (3): nucleoplasm (GO:0005654), cytosol (GO:0005829), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| sexual reproduction | 1 |
| multicellular organismal reproductive process | 1 |
| cellular component organization | 1 |
| histone H3 reader activity | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
206 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SPIN2B | SPINDOC | Q9BUA3 | 431 |
| SPIN2B | NALF2 | O75949 | 384 |
| SPIN2B | TERF1 | P54274 | 380 |
| SPIN2B | RPP40 | O75818 | 307 |
| SPIN2B | SPATA4 | Q8NEY3 | 303 |
| SPIN2B | SPNS1 | Q9H2V7 | 300 |
| SPIN2B | RPA3 | P35244 | 293 |
| SPIN2B | RPL10 | P27635 | 285 |
| SPIN2B | WDR76 | Q9H967 | 273 |
| SPIN2B | ELMOD1 | Q8N336 | 271 |
| SPIN2B | GARIN1A | Q6NXP2 | 270 |
| SPIN2B | INSL6 | Q9Y581 | 270 |
| SPIN2B | RCC2 | Q9P258 | 261 |
| SPIN2B | NCAPH | Q15003 | 254 |
| SPIN2B | CBX1 | P23197 | 253 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PFDN4 | PFDN6 | psi-mi:“MI:0914”(association) | 0.730 |
| PFDN1 | PFDN6 | psi-mi:“MI:0914”(association) | 0.640 |
| SPIN2B | LAMP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPIN2B | SH3GLB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPINDOC | SPIN3 | psi-mi:“MI:0914”(association) | 0.560 |
| SPIN2B | WDHD1 | psi-mi:“MI:0914”(association) | 0.530 |
| GALNS | FBXO21 | psi-mi:“MI:0914”(association) | 0.530 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| DEFB107A | ZZEF1 | psi-mi:“MI:0914”(association) | 0.350 |
| SPIN1 | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (70): SPIN1 (Affinity Capture-MS), XPC (Affinity Capture-MS), WDHD1 (Affinity Capture-MS), SUPT16H (Affinity Capture-MS), CGGBP1 (Affinity Capture-MS), PARP2 (Affinity Capture-MS), WDR76 (Affinity Capture-MS), MCM2 (Affinity Capture-MS), XPNPEP1 (Affinity Capture-MS), HIST1H2BJ (Affinity Capture-MS), MCM6 (Affinity Capture-MS), SSRP1 (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), HIST2H2AB (Affinity Capture-MS), YRDC (Affinity Capture-MS)
ESM2 similar proteins: A2Z4C5, A7X680, B8AJL9, F4HVW5, F4I933, F4IV66, F4JR57, K4DF01, P0C7Q8, P13675, Q0WPN7, Q10PL5, Q1ECE0, Q2KI39, Q33BI9, Q4V8J7, Q56A73, Q5JUX0, Q5R997, Q5RA80, Q5RAW7, Q61142, Q6NVE3, Q6YZM6, Q8GVE5, Q8K1L2, Q8L7G0, Q8LJW3, Q8RWD9, Q8RWY4, Q8RY82, Q8W4F0, Q90WG1, Q90WG2, Q93VH2, Q93XX4, Q93YR9, Q944S3, Q94BM7, Q99865
Diamond homologs: P13675, Q2KI39, Q4V8J7, Q56A73, Q5JUX0, Q5R997, Q5RA80, Q5RAW7, Q61142, Q6NVE3, Q8K1L2, Q90WG1, Q90WG2, Q99865, Q9BPZ2, Q9Y657
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
13 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 9 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
288 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:57121228:ATGG:A | donor_gain | 0.9900 |
| X:57121305:T:TA | donor_gain | 0.9900 |
| X:57120630:GCCTG:G | acceptor_gain | 0.9800 |
| X:57120631:CCTGC:C | acceptor_gain | 0.9800 |
| X:57120632:CTG:C | acceptor_gain | 0.9800 |
| X:57121197:C:A | donor_gain | 0.9800 |
| X:57121224:A:AC | donor_gain | 0.9800 |
| X:57121225:C:CC | donor_gain | 0.9800 |
| X:57121227:AATGG:A | donor_gain | 0.9800 |
| X:57121274:A:AC | donor_gain | 0.9800 |
| X:57121275:C:CC | donor_gain | 0.9800 |
| X:57121275:CGTG:C | donor_gain | 0.9800 |
| X:57121168:TC:T | donor_gain | 0.9700 |
| X:57121169:CC:C | donor_gain | 0.9700 |
| X:57121294:T:TA | donor_gain | 0.9700 |
| X:57120633:TG:T | acceptor_gain | 0.9600 |
| X:57121362:G:A | donor_gain | 0.9600 |
| X:57120635:C:CC | acceptor_gain | 0.9500 |
| X:57121196:T:TA | donor_gain | 0.9500 |
| X:57121302:G:GA | donor_gain | 0.9500 |
| X:57121315:G:A | donor_gain | 0.9500 |
| X:57120629:TGC:T | acceptor_gain | 0.9400 |
| X:57121250:C:CT | donor_gain | 0.9400 |
| X:57121251:C:CT | donor_gain | 0.9400 |
| X:57121311:ACGAG:A | donor_gain | 0.9400 |
| X:57121312:CGAGC:C | donor_gain | 0.9400 |
| X:57121200:ATCCC:A | donor_gain | 0.9300 |
| X:57121249:TCC:T | donor_gain | 0.9300 |
| X:57120628:ATGCC:A | acceptor_loss | 0.9200 |
| X:57120629:TGCC:T | acceptor_loss | 0.9200 |
AlphaMissense
1620 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:57119901:A:C | F243L | 1.000 |
| X:57119901:A:T | F243L | 1.000 |
| X:57119903:A:G | F243L | 1.000 |
| X:57120219:A:C | F137L | 1.000 |
| X:57120219:A:T | F137L | 1.000 |
| X:57120221:A:G | F137L | 1.000 |
| X:57120091:T:A | D180V | 0.999 |
| X:57120115:A:G | L172S | 0.999 |
| X:57120134:A:G | Y166H | 0.999 |
| X:57120144:A:C | F162L | 0.999 |
| X:57120144:A:T | F162L | 0.999 |
| X:57120146:A:G | F162L | 0.999 |
| X:57120175:A:G | L152S | 0.999 |
| X:57120185:C:A | G149W | 0.999 |
| X:57120185:C:G | G149R | 0.999 |
| X:57120185:C:T | G149R | 0.999 |
| X:57120220:A:C | F137C | 0.999 |
| X:57120371:A:G | Y87H | 0.999 |
| X:57120415:A:T | V72D | 0.999 |
| X:57119902:A:G | F243S | 0.998 |
| X:57119904:C:A | K242N | 0.998 |
| X:57119904:C:G | K242N | 0.998 |
| X:57119906:T:C | K242E | 0.998 |
| X:57119908:A:T | I241N | 0.998 |
| X:57119944:A:T | I229N | 0.998 |
| X:57119953:C:T | G226D | 0.998 |
| X:57120073:A:G | L186P | 0.998 |
| X:57120073:A:T | L186H | 0.998 |
| X:57120091:T:C | D180G | 0.998 |
| X:57120091:T:G | D180A | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000667621 (X:57121046 T>C), RS1001205815 (X:57121486 G>C,T), RS1002076885 (X:57122601 ATGT>A), RS1002274964 (X:57122042 T>G), RS1002892326 (X:57121174 C>T), RS1005405839 (X:57122189 T>C,G), RS1005477909 (X:57121889 A>G), RS1006417889 (X:57119498 G>C), RS1006549070 (X:57120978 C>T), RS1006696563 (X:57121535 C>G), RS1006747171 (X:57119678 C>G,T), RS1008895026 (X:57123361 C>T), RS1013460956 (X:57121557 C>G), RS1014260068 (X:57122301 C>A), RS1014644006 (X:57122658 T>C)
Disease associations
OMIM: gene MIM:300517 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006661_145 | Male-pattern baldness | 6.000000e-19 |
| GCST009799_6 | Alcohol consumption (drinkers vs non-drinkers) | 2.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004329 | alcohol drinking |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523440 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.34 | Kd | 46.1 | nM | CHEMBL4451634 |
| 6.77 | Kd | 170 | nM | CHEMBL4552020 |
| 6.25 | Kd | 560 | nM | CHEMBL5594627 |
PubChem BioAssay actives
3 with measured affinity, of 5 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[4-[2-[[2-[3-[2-amino-5-(cyclopropylmethoxy)-3,3-dimethylindol-6-yl]oxypropyl]-1,3-dihydroisoindol-5-yl]oxy]ethyl]triazol-1-yl]-1-[4-(2-pyrrolidin-1-ylethyl)piperidin-1-yl]ethanone | 1526489: Binding affinity to recombinant human His-tagged SPIN2B (45 to 258 residues) expressed in Escherichia coli BL21 (DE3) assessed as dissociation constant by isothermal titration calorimetry | kd | 0.0461 | uM |
| [3-(aminomethyl)-5-[3-(1,3-dihydroisoindol-2-yl)propoxy]-4-methoxyphenyl]methanamine | 1578925: Inhibition of recombinant human N-terminal His6-tagged SPIN2B (45 to 258 residues) expressed in Escherichia coli BL21 (DE3) cells assessed as dissociation constant by isothermal titration calorimetry | kd | 0.1700 | uM |
| N-[7-[3-(1,3-dihydroisoindol-2-yl)propoxy]-6-methoxy-4-pyrrolidin-1-ylquinazolin-2-yl]-N’,N’-dimethylethane-1,2-diamine | 2103451: Binding affinity to human N-terminal His6 tagged SPIN2B (P45 to S258 residues) expressed in Escherichia coli BL21 (DE3) assessed as dissociation constant by isothermal titration calorimetry | kd | 0.5600 | uM |
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| Arsenic | increases abundance, increases expression, affects methylation, affects cotreatment | 2 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| abrine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Manganese | increases expression, affects cotreatment, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | decreases expression | 1 |
ChEMBL screening assays
4 unique, capped per target: 4 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4323089 | Binding | Binding affinity to recombinant human His-tagged SPIN2B (45 to 258 residues) expressed in Escherichia coli BL21 (DE3) assessed as melting temperature at 20 uM by Sypro orange dye based differential scanning fluorimetry | A Chemical Probe for Tudor Domain Protein Spindlin1 to Investigate Chromatin Function. — J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.