SAMD13
gene geneOn this page
Summary
SAMD13 (sterile alpha motif domain containing 13, HGNC:24582) is a protein-coding gene on chromosome 1p31.1, encoding Sterile alpha motif domain-containing protein 13 (Q5VXD3).
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 18 total
- GTEx eGene: eQTL in 13 tissues, sQTL in 3 (q < 0.05)
- Constraint (gnomAD): pLI 0.33 (intermediate), LOEUF 1.03 (unconstrained)
- MANE Select transcript:
NM_001134663
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24582 |
| Approved symbol | SAMD13 |
| Name | sterile alpha motif domain containing 13 |
| Location | 1p31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000203943 |
| Ensembl biotype | protein_coding |
| OMIM | 620800 |
| Entrez | 148418 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 2 retained_intron
MANE Select: ENST00000394834
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 2, TSL 3: 4, TSL 4: 1
ENST00000394834, ENST00000370668, ENST00000370669, ENST00000370670, ENST00000370671, ENST00000370673, ENST00000454967, ENST00000463429, ENST00000479082, ENST00001109792
RefSeq mRNA: 3 — MANE Select: NM_001134663
NM_001010971, NM_001134663, NM_001134664
CCDS: CCDS30760, CCDS44166
Canonical transcript exons
ENST00000394834 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001453276 | 84301708 | 84301801 |
| ENSE00001453280 | 84349631 | 84350798 |
| ENSE00001453281 | 84325637 | 84325748 |
| ENSE00003589303 | 84303203 | 84303287 |
Expression profiles
Bgee: expression breadth ubiquitous, 132 present calls, max score 89.67.
FANTOM5 (CAGE): breadth broad, TPM avg 0.6020 / max 43.0608, expressed in 248 samples.
Highest expression (Bgee): rectum, primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, mucosa of transverse colon, corpus callosum.
Genetic regulation across tissues (GTEx eQTL / sQTL)
SAMD13 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 13 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
16 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Cells Cultured fibroblasts | eqtl | 1.1e-06 | -1.15 | 1:84298566:A:G |
| Esophagus Mucosa | eqtl | 2.7e-05 | -0.93 | 1:84298566:A:G |
| Stomach | eqtl | 4.1e-05 | -0.16 | 1:84420612:T:A |
| Prostate | eqtl | 4.7e-05 | -0.25 | 1:84441771:G:A |
| Cells EBV-transformed lymphocytes | eqtl | 5.7e-05 | +0.40 | 1:84295283:C:T |
| Skin Sun Exposed Lower leg | eqtl | 1.4e-03 | -0.74 | 1:84298566:A:G |
| Testis | eqtl | 2.8e-03 | -0.59 | 1:84298566:A:G |
| Thyroid | eqtl | 3.9e-03 | -0.51 | 1:84298566:A:G |
| Skin Not Sun Exposed Suprapubic | eqtl | 4.4e-03 | -0.83 | 1:84298566:A:G |
| Brain Spinal cord cervical c-1 | eqtl | 9.5e-03 | -0.31 | 1:83353471:G:T |
| Nerve Tibial | eqtl | 1.3e-02 | +0.49 | 1:84316958:C:T |
| Testis | sqtl | 1.7e-02 | +1.62 | 1:84382544:A:G |
| Muscle Skeletal | sqtl | 2.0e-02 | +1.13 | 1:83978493:T:A |
| Spleen | eqtl | 2.1e-02 | +0.51 | 1:83539142:G:T |
| Pituitary | sqtl | 4.3e-02 | +0.96 | 1:84291036:A:G |
| Brain Caudate basal ganglia | eqtl | 5.0e-02 | -0.37 | 1:84769868:C:A |
FANTOM5 promoters
2 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 3792 | 0.3922 | 169 |
| 3791 | 0.2098 | 78 |
Top tissues by expression
showing 100 of 133 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| rectum | UBERON:0001052 | 89.67 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.24 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.11 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 84.57 | gold quality |
| corpus callosum | UBERON:0002336 | 80.24 | gold quality |
| right testis | UBERON:0004534 | 79.73 | gold quality |
| testis | UBERON:0000473 | 79.51 | gold quality |
| left testis | UBERON:0004533 | 79.13 | gold quality |
| transverse colon | UBERON:0001157 | 77.69 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 76.26 | gold quality |
| gastrocnemius | UBERON:0001388 | 75.95 | gold quality |
| muscle of leg | UBERON:0001383 | 75.39 | gold quality |
| thyroid gland | UBERON:0002046 | 74.30 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 74.16 | gold quality |
| adrenal tissue | UBERON:0018303 | 74.10 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 74.08 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 73.77 | gold quality |
| right adrenal gland | UBERON:0001233 | 73.61 | gold quality |
| right uterine tube | UBERON:0001302 | 73.29 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 73.15 | gold quality |
| muscle tissue | UBERON:0002385 | 72.72 | gold quality |
| left adrenal gland | UBERON:0001234 | 72.44 | gold quality |
| ganglionic eminence | UBERON:0004023 | 72.26 | gold quality |
| fundus of stomach | UBERON:0001160 | 72.09 | gold quality |
| endometrium | UBERON:0001295 | 72.03 | gold quality |
| ventricular zone | UBERON:0003053 | 71.91 | gold quality |
| adrenal gland | UBERON:0002369 | 71.88 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 71.85 | gold quality |
| duodenum | UBERON:0002114 | 71.73 | gold quality |
| body of stomach | UBERON:0001161 | 71.51 | gold quality |
| colonic epithelium | UBERON:0000397 | 71.45 | gold quality |
| islet of Langerhans | UBERON:0000006 | 71.32 | gold quality |
| stomach | UBERON:0000945 | 71.24 | gold quality |
| prefrontal cortex | UBERON:0000451 | 70.96 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 70.91 | gold quality |
| colon | UBERON:0001155 | 70.39 | gold quality |
| stromal cell of endometrium | CL:0002255 | 70.21 | gold quality |
| minor salivary gland | UBERON:0001830 | 69.34 | gold quality |
| intestine | UBERON:0000160 | 69.32 | gold quality |
| nucleus accumbens | UBERON:0001882 | 69.29 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 69.20 | gold quality |
| fallopian tube | UBERON:0003889 | 68.87 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 68.82 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 68.58 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 68.50 | gold quality |
| frontal cortex | UBERON:0001870 | 68.48 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 67.76 | gold quality |
| gall bladder | UBERON:0002110 | 67.60 | gold quality |
| cerebral cortex | UBERON:0000956 | 67.43 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 67.35 | gold quality |
| pancreas | UBERON:0001264 | 67.13 | gold quality |
| tonsil | UBERON:0002372 | 66.96 | gold quality |
| primary visual cortex | UBERON:0002436 | 66.81 | gold quality |
| Ammon’s horn | UBERON:0001954 | 66.73 | gold quality |
| brain | UBERON:0000955 | 66.52 | gold quality |
| substantia nigra | UBERON:0002038 | 66.49 | gold quality |
| cerebellar cortex | UBERON:0002129 | 66.48 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 66.39 | gold quality |
| cerebellum | UBERON:0002037 | 66.36 | gold quality |
| caudate nucleus | UBERON:0001873 | 66.22 | gold quality |
| hypothalamus | UBERON:0001898 | 66.19 | gold quality |
| putamen | UBERON:0001874 | 65.99 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 65.93 | gold quality |
| body of pancreas | UBERON:0001150 | 65.53 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 65.02 | gold quality |
| amygdala | UBERON:0001876 | 65.00 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 64.98 | gold quality |
| right frontal lobe | UBERON:0002810 | 64.92 | gold quality |
| temporal lobe | UBERON:0001871 | 64.91 | gold quality |
| small intestine | UBERON:0002108 | 64.85 | gold quality |
| prostate gland | UBERON:0002367 | 63.91 | gold quality |
| vermiform appendix | UBERON:0001154 | 63.71 | gold quality |
| body of uterus | UBERON:0009853 | 63.60 | gold quality |
| metanephros cortex | UBERON:0010533 | 63.07 | gold quality |
| urinary bladder | UBERON:0001255 | 62.92 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 62.86 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 62.55 | gold quality |
| lymph node | UBERON:0000029 | 62.54 | gold quality |
| multicellular organism | UBERON:0000468 | 62.53 | gold quality |
| adenohypophysis | UBERON:0002196 | 62.50 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 62.22 | gold quality |
| kidney | UBERON:0002113 | 62.08 | gold quality |
| cortex of kidney | UBERON:0001225 | 61.79 | gold quality |
| heart left ventricle | UBERON:0002084 | 61.55 | gold quality |
| myometrium | UBERON:0001296 | 61.49 | gold quality |
| left uterine tube | UBERON:0001303 | 61.29 | gold quality |
| heart | UBERON:0000948 | 61.17 | gold quality |
| placenta | UBERON:0001987 | 61.08 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 60.82 | gold quality |
| pituitary gland | UBERON:0000007 | 60.71 | gold quality |
| endocervix | UBERON:0000458 | 60.41 | gold quality |
| thoracic aorta | UBERON:0001515 | 60.34 | gold quality |
| mucosa of stomach | UBERON:0001199 | 60.14 | gold quality |
| ascending aorta | UBERON:0001496 | 60.06 | gold quality |
| esophagus mucosa | UBERON:0002469 | 60.02 | gold quality |
| omental fat pad | UBERON:0010414 | 59.75 | gold quality |
| spleen | UBERON:0002106 | 59.52 | gold quality |
| right atrium auricular region | UBERON:0006631 | 59.52 | gold quality |
| monocyte | CL:0000576 | 59.39 | gold quality |
| adipose tissue | UBERON:0001013 | 59.24 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 5.14 |
HPA expression
RNA tissue specificity: Tissue enhanced
showing 60 of 79 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Choroid plexus | tissue | 22.9 | |
| Rectum | tissue | 20.6 | high |
| Colon | tissue | 18.2 | high |
| Salivary gland | tissue | 16.5 | not detected |
| Hippocampus | tissue | 13.0 | not detected |
| Testis | tissue | 12.3 | medium |
| Nucleus accumbens | tissue | 11.6 | |
| Postcentral gyrus | tissue | 9.3 | |
| Thyroid gland | tissue | 9.1 | low |
| Locus coeruleus | tissue | 8.0 | |
| Stomach 1 | tissue | 5.7 | medium |
| Skeletal muscle | tissue | 5.4 | low |
| Epididymis | tissue | 3.9 | not detected |
| Fallopian tube | tissue | 3.9 | low |
| Prostate | tissue | 3.7 | not detected |
| Small intestine | tissue | 3.6 | high |
| Adrenal gland | tissue | 3.2 | medium |
| Duodenum | tissue | 3.1 | high |
| Corpus callosum | tissue | 3.1 | |
| Tongue | tissue | 2.8 | |
| Thymus | tissue | 2.6 | |
| Bone marrow | tissue | 2.6 | not detected |
| Spinal cord | tissue | 2.3 | |
| Breast | tissue | 2.2 | low |
| Heart muscle | tissue | 2.2 | not detected |
| Periaqueductal gray | tissue | 2.2 | |
| Septum | tissue | 2.2 | |
| Smooth muscle | tissue | 2.1 | not detected |
| Medulla oblongata | tissue | 2.1 | |
| Substantia nigra | tissue | 2.1 | |
| Seminal vesicle | tissue | 2.0 | low |
| Hypothalamus | tissue | 2.0 | |
| Pons | tissue | 1.9 | |
| Midbrain | tissue | 1.9 | |
| Ventral forebrain | tissue | 1.8 | |
| Urinary bladder | tissue | 1.7 | medium |
| Pancreas | tissue | 1.7 | low |
| Gallbladder | tissue | 1.7 | not detected |
| Endometrium 1 | tissue | 1.6 | low |
| Cervix | tissue | 1.5 | low |
| Putamen | tissue | 1.5 | |
| Thalamus | tissue | 1.5 | |
| Amygdala | tissue | 1.4 | |
| Appendix | tissue | 1.4 | high |
| Basal ganglia | tissue | 1.3 | not detected |
| Superior colliculi | tissue | 1.3 | |
| Kidney | tissue | 1.3 | high |
| Hippocampal formation | tissue | 1.3 | |
| Skin 1 | tissue | 1.1 | not detected |
| Lymph node | tissue | 1.1 | not detected |
| Parathyroid gland | tissue | 1.1 | not detected |
| Olfactory bulb | tissue | 1.1 | |
| Prefrontal cortex | tissue | 1.0 | |
| Cerebral cortex | tissue | 1.0 | low |
| Cerebellum | tissue | 1.0 | medium |
| Spleen | tissue | 1.0 | not detected |
| Entorhinal cortex | tissue | 1.0 | |
| Temporal cortex | tissue | 1.0 | |
| Insular cortex | tissue | 1.0 | |
| Pituitary gland | tissue | 0.9 |
Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Somatomor cortex, precentral gyrus (white matter) (32.7), Corticomedial amygdala (22.3), Area parastriata, superior (21.7), Lateral thalamic nuclei (20.3), Hippocampus, CA2 (18.7).
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
Targeting SAMD13 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 78 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-130B-5P | 99.83 | 68.50 | 1888 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
Functional genomics
gnomAD constraint: pLI 0.332, LOEUF 1.03, missense Z 1.46 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000394834 — one region, missense o/e 0.70.
Literature-anchored findings (GeneRIF, showing 1)
- SAMD13 serves as a useful prognostic biomarker for hepatocellular carcinoma. (PMID:37968735)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | samd13 | ENSDARG00000062977 |
| mus_musculus | Samd13 | ENSMUSG00000048652 |
| rattus_norvegicus | Samd13 | ENSRNOG00000016432 |
| drosophila_melanogaster | Sfmbt | FBGN0032475 |
| caenorhabditis_elegans | lin-61 | WBGENE00003041 |
| caenorhabditis_elegans | mbtr-1 | WBGENE00021661 |
Paralogs (18): SCMH1 (ENSG00000010803), MBTD1 (ENSG00000011258), SCML1 (ENSG00000047634), L3MBTL2 (ENSG00000100395), SCML2 (ENSG00000102098), PHC1 (ENSG00000111752), THAP10 (ENSG00000129028), PHC2 (ENSG00000134686), SAMD1 (ENSG00000141858), SCML4 (ENSG00000146285), L3MBTL4 (ENSG00000154655), SFMBT1 (ENSG00000163935), PHC3 (ENSG00000173889), L3MBTL1 (ENSG00000185513), SAMD7 (ENSG00000187033), SAMD11 (ENSG00000187634), SFMBT2 (ENSG00000198879), L3MBTL3 (ENSG00000198945)
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Oryctolagus cuniculus | Q6SPE9 | 86.4% | Diamond |
| Drosophila pseudoobscura pseudoobscura | Q29L50 | 78.9% | Diamond |
| Xenopus laevis | Q4V7W5 | 67.9% | Diamond |
| Gallus gallus | E1C2V1 | 67.1% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| PRKACB | protein-coding | 5567 |
| SPATA1 | protein-coding | 100505741 |
| CTBS | protein-coding | 1486 |
| GNG5 | protein-coding | 2787 |
| DNASE2B | protein-coding | 58511 |
| RPF1 | protein-coding | 80135 |
Protein
Protein identifiers
Sterile alpha motif domain-containing protein 13 — Q5VXD3 (reviewed: Q5VXD3)
All UniProt accessions (2): H7BZX5, Q5VXD3
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5VXD3-1 | 1 | yes |
| Q5VXD3-2 | 2 | |
| Q5VXD3-3 | 3 | |
| Q5VXD3-4 | 4 |
RefSeq proteins (3): NP_001010971, NP_001128135, NP_001128136 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001660 | SAM | Domain |
| IPR013761 | SAM/pointed_sf | Homologous_superfamily |
| IPR050548 | PcG_chromatin_remod_factors | Family |
Pfam: PF00536
UniProt features (5 total): splice variant 3, chain 1, domain 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VXD3-F1 | 78.42 | 0.53 |
Human Protein Atlas
Protein class: Predicted intracellular proteins, UniProt - Evidence at transcript level
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): mitochondria
Antibody reliability (HPA): IH enhanced · IF approved
Function
Pathways and Gene Ontology
Reactome pathways
0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
MSigDB gene sets: 58 (showing top):
JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, MARSON_BOUND_BY_FOXP3_STIMULATED, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_RED_DN, GEORGES_TARGETS_OF_MIR192_AND_MIR215, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_DN, CHEMNITZ_RESPONSE_TO_PROSTAGLANDIN_E2_DN, TORCHIA_TARGETS_OF_EWSR1_FLI1_FUSION_UP, STK33_NOMO_DN, DLX6_TARGET_GENES, FEV_TARGET_GENES, LHX9_TARGET_GENES, PRDM5_TARGET_GENES, ZFP91_TARGET_GENES, ZNF410_TARGET_GENES
GO Molecular Function (1): protein binding (GO:0005515)
GO top-level categories
1 GO namespaces:
| Category | Terms |
|---|---|
| binding | 1 |
Protein interactions and networks
STRING
showing 15 of 300 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SAMD13 | TMEM97 | Q5BJF2 | 404 |
| SAMD13 | NXPE4 | Q6UWF7 | 388 |
| SAMD13 | REP15 | Q6BDI9 | 360 |
| SAMD13 | PJA2 | O43164 | 347 |
| SAMD13 | CAMK2N1 | Q7Z7J9 | 342 |
| SAMD13 | KLF12 | Q9Y4X4 | 317 |
| SAMD13 | TINAG | Q9UJW2 | 298 |
| SAMD13 | SAMD12 | Q8N8I0 | 285 |
| SAMD13 | SPRR2G | Q9BYE4 | 285 |
| SAMD13 | WDHD1 | O75717 | 249 |
| SAMD13 | TCN2 | P20062 | 246 |
| SAMD13 | NXPH2 | O95156 | 246 |
| SAMD13 | FAM135B | Q49AJ0 | 236 |
| SAMD13 | MARF1 | Q9Y4F3 | 235 |
| SAMD13 | RPH3AL | Q9UNE2 | 232 |
IntAct
Human interaction partners of SAMD13 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
1 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| L3MBTL3 | association | 0.640 | 1 |
BioGRID (9 interactions; top human partners by supporting records): L3MBTL3 (Affinity Capture-MS; 4 records), HNRNPL (Affinity Capture-RNA), L3MBTL4 (Affinity Capture-MS), SAMD1 (Affinity Capture-MS), SFMBT1 (Affinity Capture-MS), TIPARP (Proximity Label-MS)
Disease & clinical
Genetic variants
Variant evidence for SAMD13: 18 ClinVar records (0 pathogenic / likely pathogenic); 4 GWAS associations.
ClinVar
18 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 14 |
| Likely benign | 0 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 29 predictions of 433):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 1:84303196 | acceptor_gain | 0.9900 | |
| 1:84308918 | donor_gain | 0.9900 | |
| 1:84325748–84325751 | donor_loss | 0.9700 | 9 |
| 1:84349629–84349630 | acceptor_loss | 0.9700 | 6 |
| 1:84301763 | donor_gain | 0.9600 | |
| 1:84325748 | donor_loss | 0.9600 | |
| 1:84325751 | donor_loss | 0.9600 | |
| 1:84325625 | acceptor_loss | 0.9500 | |
| 1:84325634–84325636 | acceptor_loss | 0.9500 | 7 |
| 1:84349628 | acceptor_loss | 0.9500 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
4 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Glioblastoma Multiforme (TCGA) | favorable | 1.15e-05 |
| Kidney Renal Clear Cell Carcinoma (TCGA) | favorable | 5.09e-05 |
| Pancreatic Adenocarcinoma (validation) | favorable | 0.000351 |
| Lung Adenocarcinoma (TCGA) | unfavorable | 0.000924 |
Disease associations
OMIM: gene MIM:620800 | disease phenotypes:
GWAS associations
4 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST011768_20 | Schizophrenia | 9e-9 |
| GCST009391_1136 | Metabolite levels | 3e-7 |
| GCST010039_13 | Adverse response to inhaled corticosteroid treatment x age interaction in asthma | 4e-7 |
| GCST001762_588 | Obesity-related traits | 4e-6 |
EFO canonical traits (from GWAS)
2 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0010364 | lysophosphatidylcholine 20:5 measurement |
| EFO:0008007 | age at assessment |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases expression, affects expression | 5 |
| methylmercuric chloride | decreases expression | 2 |
| trichostatin A | increases expression | 2 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Phenylmercuric Acetate | decreases expression, affects cotreatment | 2 |
| Silicon Dioxide | decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| bisphenol A | decreases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| avobenzone | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Carbamazepine | affects expression | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Testosterone | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Gold Compounds | decreases expression | 1 |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.