SAMD14

Summary

SAMD14 (sterile alpha motif domain containing 14, HGNC:27312) is a protein-coding gene on chromosome 17q21.33, encoding Sterile alpha motif domain-containing protein 14 (Q8IZD0).

Predicted to enable actin filament binding activity. Predicted to be involved in actin filament organization; calcium-mediated signaling; and neuron projection development. Predicted to be active in several cellular components, including actin cytoskeleton; dendrite; and postsynaptic density.

Source: NCBI Gene 201191 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 93 total — 1 pathogenic
• MANE Select transcript: NM_001257359

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27312
Approved symbol	SAMD14
Name	sterile alpha motif domain containing 14
Location	17q21.33
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36890
Ensembl gene	ENSG00000167100
Ensembl biotype	protein_coding
OMIM	619233
Entrez	201191

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 7 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000285206, ENST00000330175, ENST00000503131, ENST00000503734, ENST00000507043, ENST00000508892, ENST00000511964, ENST00000513474, ENST00000515816, ENST00000573376, ENST00000866739, ENST00000925448, ENST00000951173

RefSeq mRNA: 2 — MANE Select: NM_001257359 NM_001257359, NM_174920

CCDS: CCDS11560, CCDS58562

Canonical transcript exons

ENST00000330175 — 10 exons

Exon	Start	End
ENSE00002053054	50110040	50113048
ENSE00002075882	50129517	50130160
ENSE00003476015	50117407	50117695
ENSE00003524218	50124917	50124971
ENSE00003551803	50114187	50114306
ENSE00003566182	50113924	50114079
ENSE00003595284	50116003	50116090
ENSE00003610984	50115830	50115904
ENSE00003626941	50118161	50118327
ENSE00003630211	50115564	50115723

Expression profiles

Bgee: expression breadth ubiquitous, 213 present calls, max score 97.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.0429 / max 417.8401, expressed in 1265 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
166848	4.3690	1092
166846	3.3949	809
166847	1.3968	604
166845	0.8821	369

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	97.76	gold quality
cerebellar hemisphere	UBERON:0002245	97.59	gold quality
cerebellar cortex	UBERON:0002129	97.53	gold quality
cortical plate	UBERON:0005343	96.26	gold quality
cerebellum	UBERON:0002037	96.03	gold quality
right frontal lobe	UBERON:0002810	92.85	gold quality
paraflocculus	UBERON:0005351	92.63	gold quality
ganglionic eminence	UBERON:0004023	91.85	gold quality
nucleus accumbens	UBERON:0001882	91.29	gold quality
cingulate cortex	UBERON:0003027	91.19	gold quality
anterior cingulate cortex	UBERON:0009835	91.16	gold quality
amygdala	UBERON:0001876	90.00	gold quality
putamen	UBERON:0001874	89.55	gold quality
cerebellar vermis	UBERON:0004720	89.19	gold quality
caudate nucleus	UBERON:0001873	88.88	gold quality
prefrontal cortex	UBERON:0000451	88.54	gold quality
Brodmann (1909) area 9	UBERON:0013540	87.42	gold quality
neocortex	UBERON:0001950	87.19	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	87.10	gold quality
frontal cortex	UBERON:0001870	86.64	gold quality
stromal cell of endometrium	CL:0002255	86.19	gold quality
telencephalon	UBERON:0001893	85.71	gold quality
brain	UBERON:0000955	85.36	gold quality
central nervous system	UBERON:0001017	85.10	gold quality
cerebral cortex	UBERON:0000956	84.98	gold quality
forebrain	UBERON:0001890	84.47	gold quality
hypothalamus	UBERON:0001898	83.18	gold quality
Ammon’s horn	UBERON:0001954	82.42	gold quality
middle frontal gyrus	UBERON:0002702	82.42	gold quality
temporal lobe	UBERON:0001871	82.35	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.59

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

78 targeting SAMD14, 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-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-135A-5P	99.36	71.85	1601
HSA-MIR-135B-5P	99.36	71.63	1613
HSA-MIR-6882-5P	99.35	71.13	1206
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-4721	99.26	66.05	818

Literature-anchored findings (GeneRIF, showing 2)

• Hyper-N-glycosylated SAMD14 and neurabin-I as driver autoantigens of primary central nervous system lymphoma. (PMID:30249786)
• SAMD14 promoter hyper-methylation was significantly associated with a poor prognosis in gastric cancer. (PMID:32206938)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000101171
mus_musculus	Samd14	ENSMUSG00000047181
rattus_norvegicus	Samd14	ENSRNOG00000004155
drosophila_melanogaster	Spn	FBGN0010905
caenorhabditis_elegans	nab-1	WBGENE00003516

Paralogs (2): PPP1R9B (ENSG00000108819), PPP1R9A (ENSG00000158528)

Protein

Protein identifiers

Sterile alpha motif domain-containing protein 14 — Q8IZD0 (reviewed: Q8IZD0)

All UniProt accessions (3): D6RA16, Q8IZD0, J3KN99

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IZD0-1	1	yes
Q8IZD0-2	2

RefSeq proteins (2): NP_001244288, NP_777580 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001660	SAM	Domain
IPR013761	SAM/pointed_sf	Homologous_superfamily
IPR043446	Neurabin-like	Family

Pfam: PF07647

UniProt features (18 total): compositionally biased region 6, modified residue 6, region of interest 2, chain 1, domain 1, splice variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IZD0-F1	60.67	0.10

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (6): 84, 108, 173, 179, 279, 283

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 86 (showing top): GOBP_NEUROGENESIS, TGACCTY_ERR1_Q2, COUP_01, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_ACTIN_FILAMENT_ORGANIZATION, HNF4_DR1_Q3, HNF4_01, TGANTCA_AP1_C, PPAR_DR1_Q2, PPARA_01, GOMF_ACTIN_BINDING, GOCC_NEURON_PROJECTION, GOBP_CELL_PROJECTION_ORGANIZATION, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOCC_POSTSYNAPSE

GO Biological Process (3): actin filament organization (GO:0007015), calcium-mediated signaling (GO:0019722), neuron projection development (GO:0031175)

GO Molecular Function (2): actin filament binding (GO:0051015), protein binding (GO:0005515)

GO Cellular Component (4): cytoplasm (GO:0005737), postsynaptic density (GO:0014069), actin cytoskeleton (GO:0015629), dendrite (GO:0030425)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
actin cytoskeleton organization	1
supramolecular fiber organization	1
intracellular signaling cassette	1
neuron development	1
plasma membrane bounded cell projection organization	1
actin binding	1
protein-containing complex binding	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
asymmetric synapse	1
postsynaptic specialization	1
cytoskeleton	1
neuron projection	1
dendritic tree	1

Protein interactions and networks

STRING

518 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SAMD14	SAMD7	Q7Z3H4	527
SAMD14	SAMD10	Q9BYL1	518
SAMD14	GATA2	P23769	506
SAMD14	SAMD5	Q5TGI4	472
SAMD14	AGAP4	Q96P64	354
SAMD14	DAPP1	Q9UN19	344
SAMD14	PPP1R9B	Q96SB3	338
SAMD14	FBXO46	Q6PJ61	308
SAMD14	EXOSC8	Q96B26	306
SAMD14	SMPD3	Q9NY59	305
SAMD14	LRRC75A	Q8NAA5	305
SAMD14	NICOL1	Q5BLP8	301
SAMD14	HAGHL	Q6PII5	300
SAMD14	A0A087WTP8	A0A087WTP8	297
SAMD14	PPP1R9A	Q9ULJ8	297

IntAct

2 interactions, top by confidence:

A	B	Type	Score
SAMD14	H3C13	psi-mi:“MI:0915”(physical association)	0.400

ESM2 similar proteins: A0A8I3QA39, A2A6T1, A2A9T0, A2AHG0, A4FUG8, A5PKL7, A6NKD9, A7MCY6, D3ZD05, E1BEQ5, E1U8D0, E9Q6B2, F1MRK3, G3V735, O14529, O15049, O60299, O75145, O94964, P60469, P70298, Q15742, Q1LZH7, Q3LUD3, Q3LUD4, Q5JTD0, Q5RCR6, Q61127, Q63ZY3, Q6DG50, Q6DIS8, Q6PDH0, Q86UU1, Q86X02, Q8BX02, Q8C7U1, Q8IZD0, Q8K1Q4, Q8K371, Q91YU6

Diamond homologs: A0A140LI67, A0A8C0TYJ0, A0A8P0N4K0, A1A5G4, A7UA95, E2QYC9, F1MAD2, G5ECY0, O14910, O15018, O35274, O35867, O35889, O54824, O55164, O74653, O75970, O88382, O88951, O88952, P31007, P31016, P55196, P70175, P78352, Q0P5F3, Q12923, Q12959, Q14005, Q14160, Q15700, Q28C55, Q2KIB6, Q32LM6, Q3T0C9, Q4H4B6, Q5BJU3, Q5F425, Q5F488, Q5PYH5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	73
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2692405	Single allele	Pathogenic

SpliceAI

1639 predictions. Top by Δscore:

Variant	Effect	Δscore
17:50113047:CT:C	acceptor_gain	1.0000
17:50113919:CCCA:C	donor_loss	1.0000
17:50113921:CACCT:C	donor_loss	1.0000
17:50113923:C:CA	donor_loss	1.0000
17:50113936:T:TA	donor_gain	1.0000
17:50114045:C:CT	acceptor_gain	1.0000
17:50114046:A:T	acceptor_gain	1.0000
17:50114080:C:CC	acceptor_gain	1.0000
17:50114092:C:CT	acceptor_gain	1.0000
17:50114093:A:T	acceptor_gain	1.0000
17:50115720:CTCC:C	acceptor_gain	1.0000
17:50115826:TCAC:T	donor_loss	1.0000
17:50115827:CAC:C	donor_loss	1.0000
17:50115828:ACCTG:A	donor_loss	1.0000
17:50115829:CCTG:C	donor_gain	1.0000
17:50115901:GACCC:G	acceptor_loss	1.0000
17:50115903:CC:C	acceptor_gain	1.0000
17:50115904:CC:C	acceptor_gain	1.0000
17:50115904:CCTGT:C	acceptor_loss	1.0000
17:50115905:C:CA	acceptor_loss	1.0000
17:50115905:C:CC	acceptor_gain	1.0000
17:50115906:T:A	acceptor_loss	1.0000
17:50115998:CTCA:C	donor_loss	1.0000
17:50115999:TCA:T	donor_loss	1.0000
17:50116000:CA:C	donor_loss	1.0000
17:50116001:A:AC	donor_gain	1.0000
17:50116001:A:C	donor_loss	1.0000
17:50116001:AC:A	donor_gain	1.0000
17:50116001:ACC:A	donor_gain	1.0000
17:50116002:C:CC	donor_gain	1.0000

AlphaMissense

2678 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:50113007:C:A	K380N	0.999
17:50113007:C:G	K380N	0.999
17:50113009:T:C	K380E	0.999
17:50113928:A:G	L365P	0.999
17:50113952:A:G	L357P	0.999
17:50113982:A:G	F347S	0.999
17:50114018:A:G	L335P	0.999
17:50114022:A:G	W334R	0.999
17:50114022:A:T	W334R	0.999
17:50113020:C:G	R376P	0.998
17:50113924:C:A	K366N	0.998
17:50113924:C:G	K366N	0.998
17:50113952:A:T	L357Q	0.998
17:50113961:C:T	G354E	0.998
17:50114046:A:G	W326R	0.998
17:50114046:A:T	W326R	0.998
17:50116015:A:G	F192S	0.998
17:50113011:A:T	V379E	0.997
17:50113926:T:C	K366E	0.997
17:50113928:A:C	L365R	0.997
17:50113943:A:G	L360P	0.997
17:50113952:A:C	L357R	0.997
17:50113962:C:A	G354W	0.997
17:50114003:A:G	L340P	0.997
17:50114018:A:C	L335R	0.997
17:50114018:A:T	L335Q	0.997
17:50114020:C:A	W334C	0.997
17:50114020:C:G	W334C	0.997
17:50114021:C:G	W334S	0.997
17:50116014:G:C	F192L	0.997

dbSNP variants (sampled 300 via entrez): RS1000033875 (17:50121855 T>A,G), RS1000493891 (17:50126441 A>ACTACC), RS1000999192 (17:50112773 C>A,T), RS1001166593 (17:50126064 G>A), RS1001265045 (17:50129707 A>G), RS1001446575 (17:50120689 C>T), RS1001498201 (17:50121002 G>A), RS1001663120 (17:50120053 A>T), RS1001715654 (17:50120332 A>G), RS1001781401 (17:50113237 G>A), RS1001791087 (17:50110080 A>G), RS1001842865 (17:50121208 C>A,G,T), RS1001932917 (17:50125570 C>T), RS1002001604 (17:50118484 C>A,T), RS1002081420 (17:50109710 T>A)

Disease associations

OMIM: gene MIM:619233 | disease phenotypes: MIM:166200

GenCC curated gene-disease

Mondo (1): osteogenesis imperfecta type 1 (MONDO:0008146)

Orphanet (2): Osteogenesis imperfecta type 1 (Orphanet:216796), Osteogenesis imperfecta (Orphanet:666)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004616_32	Platelet distribution width	5.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007984	platelet component distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
dimethylselenide	increases expression, increases oxidation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Allergens	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diazinon	increases methylation	1
Indomethacin	affects cotreatment, increases expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	affects expression	1
1-Methyl-3-isobutylxanthine	increases expression, affects cotreatment	1
Reactive Oxygen Species	increases expression, increases oxidation	1
Okadaic Acid	increases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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