SAMD15

Summary

SAMD15 (sterile alpha motif domain containing 15, HGNC:18631) is a protein-coding gene on chromosome 14q24.3, encoding Sterile alpha motif domain-containing protein 15 (Q9P1V8).

Predicted to enable protein serine/threonine kinase activator activity. Predicted to be involved in signal transduction.

Source: NCBI Gene 161394 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 97 total
• MANE Select transcript: NM_001010860

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18631
Approved symbol	SAMD15
Name	sterile alpha motif domain containing 15
Location	14q24.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ35963
Ensembl gene	ENSG00000100583
Ensembl biotype	protein_coding
Entrez	161394

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000216471, ENST00000533095

RefSeq mRNA: 1 — MANE Select: NM_001010860 NM_001010860

CCDS: CCDS32126

Canonical transcript exons

ENST00000216471 — 3 exons

Exon	Start	End
ENSE00000659302	77377379	77379107
ENSE00000659304	77391008	77392163
ENSE00003545365	77380383	77380481

Expression profiles

Bgee: expression breadth ubiquitous, 160 present calls, max score 87.88.

FANTOM5 (CAGE): breadth broad, TPM avg 2.0398 / max 92.7700, expressed in 792 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
140779	1.8241	711
140778	0.2157	81

Top tissues by expression

249 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	87.88	gold quality
gingival epithelium	UBERON:0001949	84.27	gold quality
superficial temporal artery	UBERON:0001614	84.13	gold quality
mucosa of paranasal sinus	UBERON:0005030	83.57	silver quality
mammary duct	UBERON:0001765	82.71	silver quality
epithelium of mammary gland	UBERON:0003244	82.49	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.32	gold quality
left testis	UBERON:0004533	81.48	gold quality
buccal mucosa cell	CL:0002336	81.35	gold quality
right testis	UBERON:0004534	80.96	gold quality
germinal epithelium of ovary	UBERON:0001304	80.86	gold quality
testis	UBERON:0000473	79.69	gold quality
gingiva	UBERON:0001828	76.60	gold quality
right uterine tube	UBERON:0001302	74.04	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	71.31	gold quality
bronchial epithelial cell	CL:0002328	71.21	gold quality
ventricular zone	UBERON:0003053	70.93	gold quality
bronchus	UBERON:0002185	70.47	gold quality
amniotic fluid	UBERON:0000173	67.20	gold quality
islet of Langerhans	UBERON:0000006	67.08	gold quality
cortical plate	UBERON:0005343	67.03	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	65.03	gold quality
prefrontal cortex	UBERON:0000451	64.97	gold quality
pituitary gland	UBERON:0000007	64.92	gold quality
epithelium of nasopharynx	UBERON:0001951	64.89	gold quality
adenohypophysis	UBERON:0002196	64.52	gold quality
adult mammalian kidney	UBERON:0000082	63.74	gold quality
nucleus accumbens	UBERON:0001882	63.27	gold quality
lower lobe of lung	UBERON:0008949	63.18	silver quality
right lobe of thyroid gland	UBERON:0001119	63.16	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.25

Regulation

Is transcription factor: no

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
mus_musculus	Samd15	ENSMUSG00000090812
rattus_norvegicus	Samd15	ENSRNOG00000050413
drosophila_melanogaster	Cp190	FBGN0000283
drosophila_melanogaster	CG9915	FBGN0030738
drosophila_melanogaster	CG12592	FBGN0037811
caenorhabditis_elegans		WBGENE00008729

Paralogs (3): MDN1 (ENSG00000112159), IWS1 (ENSG00000163166), TCHHL1 (ENSG00000182898)

Protein

Protein identifiers

Sterile alpha motif domain-containing protein 15 — Q9P1V8 (reviewed: Q9P1V8)

All UniProt accessions (2): Q9P1V8, G3V2Z3

Isoforms (2)

UniProt ID	Names	Canonical?
Q9P1V8-1	1	yes
Q9P1V8-2	2

RefSeq proteins (1): NP_001010860* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001660	SAM	Domain
IPR013761	SAM/pointed_sf	Homologous_superfamily

Pfam: PF07647

UniProt features (18 total): compositionally biased region 9, sequence variant 4, splice variant 2, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P1V8-F1	49.54	0.11

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 27 (showing top): GOMF_KINASE_ACTIVATOR_ACTIVITY, chr14q24, GOMF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVATOR_ACTIVITY, GOMF_ENZYME_ACTIVATOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, DODD_NASOPHARYNGEAL_CARCINOMA_DN, ZWANG_EGF_PERSISTENTLY_DN, ELF2_TARGET_GENES, ZMYM2_TARGET_GENES, ZNF563_TARGET_GENES, ZNF711_TARGET_GENES, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_2, GSE11864_UNTREATED_VS_CSF1_PAM3CYS_IN_MAC_DN, GSE13485_DAY1_VS_DAY3_YF17D_VACCINE_PBMC_UP, GAO_ESOPHAGUS_25W_C1_CILIATED_EPITHELIAL_CELLS

GO Biological Process (1): signal transduction (GO:0007165)

GO Molecular Function (2): protein serine/threonine kinase activator activity (GO:0043539), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
protein serine/threonine kinase activity	1
protein kinase activator activity	1
binding	1

Protein interactions and networks

STRING

160 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SAMD15	SLIRP-OT1	Q8N769	657
SAMD15	TMED8	Q6PL24	599
SAMD15	NOXRED1	Q6NXP6	509
SAMD15	FAM153A	Q9UHL3	472
SAMD15	NMT2	O60551	455
SAMD15	ISM2	Q6H9L7	430
SAMD15	ADCK1	Q86TW2	380
SAMD15	POPDC2	Q9HBU9	354
SAMD15	VIPAS39	Q9H9C1	325
SAMD15	ARMC2	Q8NEN0	323
SAMD15	SLC12A8	A0AV02	322
SAMD15	RBM43	Q6ZSC3	317
SAMD15	PDZD7	Q9H5P4	314
SAMD15	KAT5	Q92993	306
SAMD15	SLIRP	Q9GZT3	303

IntAct

0 interactions, top by confidence:

BioGRID (1): SAMD15 (Affinity Capture-RNA)

ESM2 similar proteins: A0A1B0GUW6, A1EGX6, A4FU49, A6NJ88, A6QP92, E9PAV3, E9Q0C6, F1QU13, O94854, P18583, P24587, P27546, P27816, P36225, P43597, P70670, Q08DY0, Q2T9N0, Q32L62, Q4R729, Q4V7A4, Q5H9T9, Q5M7W5, Q5SWP3, Q5XHX6, Q5XPK0, Q659K0, Q68DN1, Q68FX6, Q69ZZ9, Q6AZ54, Q6P6B1, Q6ZRG5, Q70KF4, Q710D7, Q810T2, Q8K4E0, Q8N3K9, Q8TCU4, Q8WWL7

Diamond homologs: A8JQ65, B3LXF2, B3NYS4, B4I4Y1, B4JHJ7, B4K6T8, B4PRE2, B4R0A5, D3YWQ0, D3YXJ0, D3YZU1, D3ZEY4, E9PUQ8, F1MAB7, F4JKI3, F4JQ95, G4N7X0, G9CGD6, O08560, O75912, O94806, P09216, P10830, P16054, P34125, P52824, P54644, P90980, Q02156, Q09746, Q10024, Q13574, Q15139, Q16760, Q16975, Q1PDI2, Q4ACU6, Q52KW0, Q5KSL6, Q5XIS9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

97 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	81
Likely benign	11
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

401 predictions. Top by Δscore:

Variant	Effect	Δscore
14:77376932:GTACC:G	donor_loss	1.0000
14:77376933:TACC:T	donor_loss	1.0000
14:77376934:A:AG	donor_loss	1.0000
14:77376935:CCTG:C	donor_loss	1.0000
14:77376965:C:CA	donor_gain	1.0000
14:77380382:GGA:G	acceptor_gain	0.9900
14:77380382:GGAGT:G	acceptor_gain	0.9900
14:77380479:AAGG:A	donor_loss	0.9900
14:77380482:G:A	donor_loss	0.9900
14:77380483:T:A	donor_loss	0.9900
14:77389912:A:G	donor_gain	0.9900
14:77378759:A:T	donor_gain	0.9800
14:77380378:GACA:G	acceptor_loss	0.9800
14:77380379:ACAG:A	acceptor_loss	0.9800
14:77380380:C:G	acceptor_loss	0.9800
14:77380381:A:AG	acceptor_gain	0.9800
14:77380382:G:GG	acceptor_gain	0.9800
14:77380484:G:GT	donor_loss	0.9800
14:77389910:GTA:G	acceptor_gain	0.9800
14:77389911:TAT:T	acceptor_gain	0.9800
14:77389912:ATA:A	acceptor_gain	0.9800
14:77376934:A:AC	donor_gain	0.9700
14:77376935:C:CC	donor_gain	0.9700
14:77379022:GGAC:G	donor_gain	0.9700
14:77379063:G:GT	donor_gain	0.9700
14:77391007:GGCA:G	acceptor_gain	0.9700
14:77391006:A:AG	acceptor_gain	0.9600
14:77391007:G:GG	acceptor_gain	0.9600
14:77377033:AGCCG:A	donor_gain	0.9500
14:77379087:C:G	donor_gain	0.9500

AlphaMissense

4437 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:77379093:T:C	F559L	0.988
14:77379095:C:A	F559L	0.988
14:77379095:C:G	F559L	0.988
14:77391158:T:C	F647L	0.981
14:77391160:T:A	F647L	0.981
14:77391160:T:G	F647L	0.981
14:77379077:G:C	W553C	0.976
14:77379077:G:T	W553C	0.976
14:77380389:T:C	F566L	0.975
14:77380391:T:A	F566L	0.975
14:77380391:T:G	F566L	0.975
14:77379075:T:A	W553R	0.970
14:77379075:T:C	W553R	0.970
14:77379094:T:C	F559S	0.970
14:77380459:T:C	I589T	0.970
14:77380401:T:C	F570L	0.969
14:77380403:C:A	F570L	0.969
14:77380403:C:G	F570L	0.969
14:77380390:T:C	F566S	0.966
14:77391056:T:C	F613L	0.961
14:77391058:C:A	F613L	0.961
14:77391058:C:G	F613L	0.961
14:77379053:G:C	W545C	0.958
14:77379053:G:T	W545C	0.958
14:77379069:G:C	A551P	0.950
14:77380455:G:T	G588W	0.948
14:77380429:T:A	V579D	0.947
14:77379076:G:C	W553S	0.943
14:77380467:T:C	F592L	0.942
14:77380469:T:A	F592L	0.942

dbSNP variants (sampled 300 via entrez): RS1000254400 (14:77387726 A>G), RS1000306445 (14:77380217 C>A,T), RS1000354220 (14:77391567 G>A,C,T), RS1000470125 (14:77384326 A>C), RS1000604907 (14:77387231 G>A), RS1001711921 (14:77377121 C>A,T), RS1002319393 (14:77375943 C>A,G,T), RS1002320446 (14:77389312 T>A), RS1002361367 (14:77376393 T>C), RS1002564595 (14:77380117 T>A,C), RS1002645357 (14:77384953 C>G,T), RS1002745134 (14:77386917 A>G), RS1002781980 (14:77385379 A>G), RS1002805367 (14:77379807 ACTT>A), RS1002998949 (14:77378321 G>A,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004626_128	Myeloid white cell count	2.000000e-11
GCST90002398_222	Neutrophil count	2.000000e-14
GCST90002407_577	White blood cell count	1.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004833	neutrophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression	2
sotorasib	affects cotreatment, increases expression	1
pentanal	decreases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases expression	1
Cisplatin	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Folic Acid	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Smoke	increases expression, increases abundance	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.