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SAMD13

gene
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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

FieldValue
HGNC IDHGNC:24582
Approved symbolSAMD13
Namesterile alpha motif domain containing 13
Location1p31.1
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000203943
Ensembl biotypeprotein_coding
OMIM620800
Entrez148418

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

ExonStartEnd
ENSE000014532768430170884301801
ENSE000014532808434963184350798
ENSE000014532818432563784325748
ENSE000035893038430320384303287

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:

TissueQTLq-valueSlopeLead variant
Cells Cultured fibroblastseqtl1.1e-06-1.151:84298566:A:G
Esophagus Mucosaeqtl2.7e-05-0.931:84298566:A:G
Stomacheqtl4.1e-05-0.161:84420612:T:A
Prostateeqtl4.7e-05-0.251:84441771:G:A
Cells EBV-transformed lymphocyteseqtl5.7e-05+0.401:84295283:C:T
Skin Sun Exposed Lower legeqtl1.4e-03-0.741:84298566:A:G
Testiseqtl2.8e-03-0.591:84298566:A:G
Thyroideqtl3.9e-03-0.511:84298566:A:G
Skin Not Sun Exposed Suprapubiceqtl4.4e-03-0.831:84298566:A:G
Brain Spinal cord cervical c-1eqtl9.5e-03-0.311:83353471:G:T
Nerve Tibialeqtl1.3e-02+0.491:84316958:C:T
Testissqtl1.7e-02+1.621:84382544:A:G
Muscle Skeletalsqtl2.0e-02+1.131:83978493:T:A
Spleeneqtl2.1e-02+0.511:83539142:G:T
Pituitarysqtl4.3e-02+0.961:84291036:A:G
Brain Caudate basal gangliaeqtl5.0e-02-0.371:84769868:C:A

FANTOM5 promoters

2 alternative TSS:

Promoter IDTPM avgSamples expressed
37920.3922169
37910.209878

Top tissues by expression

showing 100 of 133 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
rectumUBERON:000105289.67gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099187.24gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047385.11gold quality
mucosa of transverse colonUBERON:000499184.57gold quality
corpus callosumUBERON:000233680.24gold quality
right testisUBERON:000453479.73gold quality
testisUBERON:000047379.51gold quality
left testisUBERON:000453379.13gold quality
transverse colonUBERON:000115777.69gold quality
hindlimb stylopod muscleUBERON:000425276.26gold quality
gastrocnemiusUBERON:000138875.95gold quality
muscle of legUBERON:000138375.39gold quality
thyroid glandUBERON:000204674.30gold quality
skeletal muscle tissueUBERON:000113474.16gold quality
adrenal tissueUBERON:001830374.10gold quality
left lobe of thyroid glandUBERON:000112074.08gold quality
right adrenal gland cortexUBERON:003582773.77gold quality
right adrenal glandUBERON:000123373.61gold quality
right uterine tubeUBERON:000130273.29gold quality
right lobe of thyroid glandUBERON:000111973.15gold quality
muscle tissueUBERON:000238572.72gold quality
left adrenal glandUBERON:000123472.44gold quality
ganglionic eminenceUBERON:000402372.26gold quality
fundus of stomachUBERON:000116072.09gold quality
endometriumUBERON:000129572.03gold quality
ventricular zoneUBERON:000305371.91gold quality
adrenal glandUBERON:000236971.88gold quality
left adrenal gland cortexUBERON:003582571.85gold quality
duodenumUBERON:000211471.73gold quality
body of stomachUBERON:000116171.51gold quality
colonic epitheliumUBERON:000039771.45gold quality
islet of LangerhansUBERON:000000671.32gold quality
stomachUBERON:000094571.24gold quality
prefrontal cortexUBERON:000045170.96gold quality
saliva-secreting glandUBERON:000104470.91gold quality
colonUBERON:000115570.39gold quality
stromal cell of endometriumCL:000225570.21gold quality
minor salivary glandUBERON:000183069.34gold quality
intestineUBERON:000016069.32gold quality
nucleus accumbensUBERON:000188269.29gold quality
smooth muscle tissueUBERON:000113569.20gold quality
fallopian tubeUBERON:000388968.87gold quality
olfactory segment of nasal mucosaUBERON:000538668.82gold quality
C1 segment of cervical spinal cordUBERON:000646968.58gold quality
Brodmann (1909) area 9UBERON:001354068.50gold quality
frontal cortexUBERON:000187068.48gold quality
superior frontal gyrusUBERON:000266167.76gold quality
gall bladderUBERON:000211067.60gold quality
cerebral cortexUBERON:000095667.43gold quality
dorsolateral prefrontal cortexUBERON:000983467.35gold quality
pancreasUBERON:000126467.13gold quality
tonsilUBERON:000237266.96gold quality
primary visual cortexUBERON:000243666.81gold quality
Ammon’s hornUBERON:000195466.73gold quality
brainUBERON:000095566.52gold quality
substantia nigraUBERON:000203866.49gold quality
cerebellar cortexUBERON:000212966.48gold quality
cerebellar hemisphereUBERON:000224566.39gold quality
cerebellumUBERON:000203766.36gold quality
caudate nucleusUBERON:000187366.22gold quality
hypothalamusUBERON:000189866.19gold quality
putamenUBERON:000187465.99gold quality
anterior cingulate cortexUBERON:000983565.93gold quality
body of pancreasUBERON:000115065.53gold quality
right hemisphere of cerebellumUBERON:001489065.02gold quality
amygdalaUBERON:000187665.00gold quality
small intestine Peyer’s patchUBERON:000345464.98gold quality
right frontal lobeUBERON:000281064.92gold quality
temporal lobeUBERON:000187164.91gold quality
small intestineUBERON:000210864.85gold quality
prostate glandUBERON:000236763.91gold quality
vermiform appendixUBERON:000115463.71gold quality
body of uterusUBERON:000985363.60gold quality
metanephros cortexUBERON:001053363.07gold quality
urinary bladderUBERON:000125562.92gold quality
adult mammalian kidneyUBERON:000008262.86gold quality
thoracic mammary glandUBERON:000520062.55gold quality
lymph nodeUBERON:000002962.54gold quality
multicellular organismUBERON:000046862.53gold quality
adenohypophysisUBERON:000219662.50gold quality
descending thoracic aortaUBERON:000234562.22gold quality
kidneyUBERON:000211362.08gold quality
cortex of kidneyUBERON:000122561.79gold quality
heart left ventricleUBERON:000208461.55gold quality
myometriumUBERON:000129661.49gold quality
left uterine tubeUBERON:000130361.29gold quality
heartUBERON:000094861.17gold quality
placentaUBERON:000198761.08gold quality
muscle layer of sigmoid colonUBERON:003580560.82gold quality
pituitary glandUBERON:000000760.71gold quality
endocervixUBERON:000045860.41gold quality
thoracic aortaUBERON:000151560.34gold quality
mucosa of stomachUBERON:000119960.14gold quality
ascending aortaUBERON:000149660.06gold quality
esophagus mucosaUBERON:000246960.02gold quality
omental fat padUBERON:001041459.75gold quality
spleenUBERON:000210659.52gold quality
right atrium auricular regionUBERON:000663159.52gold quality
monocyteCL:000057659.39gold quality
adipose tissueUBERON:000101359.24gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no5.14

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 79 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPMProtein (IHC)
Choroid plexustissue22.9
Rectumtissue20.6high
Colontissue18.2high
Salivary glandtissue16.5not detected
Hippocampustissue13.0not detected
Testistissue12.3medium
Nucleus accumbenstissue11.6
Postcentral gyrustissue9.3
Thyroid glandtissue9.1low
Locus coeruleustissue8.0
Stomach 1tissue5.7medium
Skeletal muscletissue5.4low
Epididymistissue3.9not detected
Fallopian tubetissue3.9low
Prostatetissue3.7not detected
Small intestinetissue3.6high
Adrenal glandtissue3.2medium
Duodenumtissue3.1high
Corpus callosumtissue3.1
Tonguetissue2.8
Thymustissue2.6
Bone marrowtissue2.6not detected
Spinal cordtissue2.3
Breasttissue2.2low
Heart muscletissue2.2not detected
Periaqueductal graytissue2.2
Septumtissue2.2
Smooth muscletissue2.1not detected
Medulla oblongatatissue2.1
Substantia nigratissue2.1
Seminal vesicletissue2.0low
Hypothalamustissue2.0
Ponstissue1.9
Midbraintissue1.9
Ventral forebraintissue1.8
Urinary bladdertissue1.7medium
Pancreastissue1.7low
Gallbladdertissue1.7not detected
Endometrium 1tissue1.6low
Cervixtissue1.5low
Putamentissue1.5
Thalamustissue1.5
Amygdalatissue1.4
Appendixtissue1.4high
Basal gangliatissue1.3not detected
Superior colliculitissue1.3
Kidneytissue1.3high
Hippocampal formationtissue1.3
Skin 1tissue1.1not detected
Lymph nodetissue1.1not detected
Parathyroid glandtissue1.1not detected
Olfactory bulbtissue1.1
Prefrontal cortextissue1.0
Cerebral cortextissue1.0low
Cerebellumtissue1.0medium
Spleentissue1.0not detected
Entorhinal cortextissue1.0
Temporal cortextissue1.0
Insular cortextissue1.0
Pituitary glandtissue0.9

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:

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-3924100.0072.092394
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-340-5P100.0072.504437
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-450A-1-3P100.0069.331837
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-4789-5P99.9870.762721
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-569699.9872.364487
HSA-MIR-60799.9773.625593
HSA-MIR-548AA99.9670.643753
HSA-MIR-548AP-3P99.9670.643753
HSA-MIR-548T-3P99.9670.643753
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-6809-3P99.9171.453814
HSA-MIR-4753-3P99.9071.033786
HSA-MIR-182-5P99.8774.032589
HSA-MIR-137-3P99.8774.742401
HSA-MIR-579-3P99.8671.663628
HSA-MIR-664B-3P99.8471.653590
HSA-MIR-130B-5P99.8368.501888
HSA-MIR-94499.8270.853042
HSA-MIR-6875-3P99.8270.262983
HSA-MIR-6739-5P99.8067.872806
HSA-MIR-4659A-3P99.8072.624248

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

OrganismSymbolGene ID
danio_reriosamd13ENSDARG00000062977
mus_musculusSamd13ENSMUSG00000048652
rattus_norvegicusSamd13ENSRNOG00000016432
drosophila_melanogasterSfmbtFBGN0032475
caenorhabditis_eleganslin-61WBGENE00003041
caenorhabditis_elegansmbtr-1WBGENE00021661

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.

OrganismUniProtIdentityMethod
Oryctolagus cuniculusQ6SPE986.4%Diamond
Drosophila pseudoobscura pseudoobscuraQ29L5078.9%Diamond
Xenopus laevisQ4V7W567.9%Diamond
Gallus gallusE1C2V167.1%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).

SymbolTypeEntrez
PRKACBprotein-coding5567
SPATA1protein-coding100505741
CTBSprotein-coding1486
GNG5protein-coding2787
DNASE2Bprotein-coding58511
RPF1protein-coding80135

Protein

Protein identifiers

Sterile alpha motif domain-containing protein 13 — Q5VXD3 (reviewed: Q5VXD3)

All UniProt accessions (2): H7BZX5, Q5VXD3

Isoforms (4)

UniProt IDNamesCanonical?
Q5VXD3-11yes
Q5VXD3-22
Q5VXD3-33
Q5VXD3-44

RefSeq proteins (3): NP_001010971, NP_001128135, NP_001128136 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001660SAMDomain
IPR013761SAM/pointed_sfHomologous_superfamily
IPR050548PcG_chromatin_remod_factorsFamily

Pfam: PF00536

UniProt features (5 total): splice variant 3, chain 1, domain 1

Structure

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5VXD3-F178.420.53

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:

CategoryTerms
binding1

Protein interactions and networks

STRING

showing 15 of 300 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
SAMD13TMEM97Q5BJF2404
SAMD13NXPE4Q6UWF7388
SAMD13REP15Q6BDI9360
SAMD13PJA2O43164347
SAMD13CAMK2N1Q7Z7J9342
SAMD13KLF12Q9Y4X4317
SAMD13TINAGQ9UJW2298
SAMD13SAMD12Q8N8I0285
SAMD13SPRR2GQ9BYE4285
SAMD13WDHD1O75717249
SAMD13TCN2P20062246
SAMD13NXPH2O95156246
SAMD13FAM135BQ49AJ0236
SAMD13MARF1Q9Y4F3235
SAMD13RPH3ALQ9UNE2232

IntAct

Human interaction partners of SAMD13 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

1 partners by confidence:

PartnerInteraction typeMIscoreRecords
L3MBTL3association0.6401

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):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance14
Likely benign0
Benign0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 29 predictions of 433):

Position(s)EffectΔscoreSites
1:84303196acceptor_gain0.9900
1:84308918donor_gain0.9900
1:84325748–84325751donor_loss0.97009
1:84349629–84349630acceptor_loss0.97006
1:84301763donor_gain0.9600
1:84325748donor_loss0.9600
1:84325751donor_loss0.9600
1:84325625acceptor_loss0.9500
1:84325634–84325636acceptor_loss0.95007
1:84349628acceptor_loss0.9500

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

4 prognostic cancer types:

CancerPrognosticp-value
Glioblastoma Multiforme (TCGA)favorable1.15e-05
Kidney Renal Clear Cell Carcinoma (TCGA)favorable5.09e-05
Pancreatic Adenocarcinoma (validation)favorable0.000351
Lung Adenocarcinoma (TCGA)unfavorable0.000924

Disease associations

OMIM: gene MIM:620800 | disease phenotypes:

GWAS associations

4 associations:

StudyTraitp-value
GCST011768_20Schizophrenia9e-9
GCST009391_1136Metabolite levels3e-7
GCST010039_13Adverse response to inhaled corticosteroid treatment x age interaction in asthma4e-7
GCST001762_588Obesity-related traits4e-6

EFO canonical traits (from GWAS)

2 canonical traits:

EFO IDTrait name
EFO:0010364lysophosphatidylcholine 20:5 measurement
EFO:0008007age 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.

ChemicalActions (top 5)PubMed papers
Valproic Aciddecreases expression, increases expression, affects expression5
methylmercuric chloridedecreases expression2
trichostatin Aincreases expression2
mercuric bromidedecreases expression, affects cotreatment2
(+)-JQ1 compounddecreases expression2
Phenylmercuric Acetatedecreases expression, affects cotreatment2
Silicon Dioxidedecreases expression2
p-Chloromercuribenzoic Acidaffects cotreatment, decreases expression2
bisphenol Adecreases expression1
ethyl-p-hydroxybenzoatedecreases expression1
butyraldehydedecreases expression1
avobenzonedecreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
abrinedecreases expression1
Grape Seed Proanthocyanidinsaffects cotreatment, decreases expression1
dorsomorphinaffects cotreatment, decreases expression1
jinfukangaffects cotreatment, increases expression1
Vorinostatincreases expression1
Air Pollutantsdecreases expression, increases abundance1
Benzo(a)pyreneincreases methylation1
Calcitrioldecreases expression, affects cotreatment1
Carbamazepineaffects expression1
Catechinaffects cotreatment, decreases expression1
Cisplatinaffects cotreatment, increases expression1
Estradiolaffects cotreatment, decreases expression1
Formaldehydedecreases expression1
Testosteroneaffects cotreatment, decreases expression1
Tobacco Smoke Pollutiondecreases expression1
Aflatoxin B1decreases methylation1
Gold Compoundsdecreases expression1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.