SERTM2

Summary

SERTM2 (serine rich and transmembrane domain containing 2, HGNC:48576) is a protein-coding gene on chromosome Xq23, encoding Serine-rich and transmembrane domain-containing protein 2 (A0A1B0GWG4). Promotes GDNF-mediated spinal cord motor neuron subtype specification, ensuring the maintenance of ETV4-expressing motor neurons.

Predicted to be located in membrane. Predicted to be active in intracellular membrane-bounded organelle.

Source: NCBI Gene 401613 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001354473

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:48576
Approved symbol	SERTM2
Name	serine rich and transmembrane domain containing 2
Location	Xq23
Locus type	gene with protein product
Status	Approved
Aliases	CARDEL
Ensembl gene	ENSG00000260802
Ensembl biotype	protein_coding
Entrez	401613

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000563467, ENST00000569275

RefSeq mRNA: 1 — MANE Select: NM_001354473 NM_001354473

CCDS: CCDS94655

Canonical transcript exons

ENST00000569275 — 3 exons

Exon	Start	End
ENSE00002601015	111518075	111522399
ENSE00002603144	111511998	111512094
ENSE00002608639	111511645	111511834

Expression profiles

Bgee: expression breadth broad, 75 present calls, max score 81.61.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5496 / max 143.3780, expressed in 138 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
197290	0.3584	110
197289	0.1183	46
197288	0.0729	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of uterus	UBERON:0009853	81.61	gold quality
myometrium	UBERON:0001296	80.46	gold quality
prostate gland	UBERON:0002367	73.55	gold quality
right lobe of liver	UBERON:0001114	72.22	gold quality
smooth muscle tissue	UBERON:0001135	71.31	gold quality
endocervix	UBERON:0000458	69.97	gold quality
liver	UBERON:0002107	68.09	gold quality
uterine cervix	UBERON:0000002	65.22	gold quality
quadriceps femoris	UBERON:0001377	61.63	gold quality
muscle layer of sigmoid colon	UBERON:0035805	60.59	gold quality
vermiform appendix	UBERON:0001154	60.28	gold quality
cerebellar vermis	UBERON:0004720	58.50	gold quality
ectocervix	UBERON:0012249	58.40	gold quality
endometrium	UBERON:0001295	57.12	gold quality
vagina	UBERON:0000996	55.91	gold quality
placenta	UBERON:0001987	55.66	gold quality
thymus	UBERON:0002370	55.11	silver quality
stromal cell of endometrium	CL:0002255	54.41	silver quality
colon	UBERON:0001155	51.80	gold quality
urinary bladder	UBERON:0001255	51.65	gold quality
left uterine tube	UBERON:0001303	51.46	gold quality
lymph node	UBERON:0000029	49.87	gold quality
duodenum	UBERON:0002114	49.11	gold quality
intestine	UBERON:0000160	48.64	gold quality
gall bladder	UBERON:0002110	48.31	gold quality
spleen	UBERON:0002106	48.25	gold quality
right ovary	UBERON:0002118	47.34	gold quality
colonic epithelium	UBERON:0000397	47.25	gold quality
hypothalamus	UBERON:0001898	47.15	gold quality
tonsil	UBERON:0002372	46.82	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.44

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Cardiac Development Long Non-Coding RNA (CARDEL) Is Activated during Human Heart Development and Contributes to Cardiac Specification and Homeostasis. (PMID:38920678)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Sertm2	ENSMUSG00000085139
rattus_norvegicus	Sertm2	ENSRNOG00000069564

Protein

Protein identifiers

Serine-rich and transmembrane domain-containing protein 2 — A0A1B0GWG4 (reviewed: A0A1B0GWG4)

All UniProt accessions (1): A0A1B0GWG4

UniProt curated annotations — full annotation on UniProt →

Function. Promotes GDNF-mediated spinal cord motor neuron subtype specification, ensuring the maintenance of ETV4-expressing motor neurons. Affects the resting membrane potential and excitability of motor neurons.

Subunit / interactions. Interacts with potassium channel KCNK3/TASK1; the interaction may affect the resting potential of neurons.

Subcellular location. Cytoplasm. Cell membrane.

Tissue specificity. Highly expressed in postmitotic motor neurons.

Post-translational modifications. N-glycosylated.

Similarity. Belongs to the SERTM family.

RefSeq proteins (1): NP_001341402* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031741	SERTM	Family

Pfam: PF15872

UniProt features (5 total): chain 1, transmembrane region 1, region of interest 1, glycosylation site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GWG4-F1	67.49	0.25

Functional residue map

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

Glycosylation sites (1): 11

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 7 (showing top): CHANDRAN_METASTASIS_DN, chrXq23, DESCARTES_MAIN_FETAL_SYMPATHOBLASTS, DESCARTES_FETAL_ADRENAL_SYMPATHOBLASTS, NKX2_5_TARGET_GENES, CARRILLOREIXACH_HEPATOBLASTOMA_VS_NORMAL_DN, ZHANG_FH_DEFICIENT_RCC_C1_VS_OTHERS_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

20 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SERTM2	AQP10	Q96PS8	397
SERTM2	KANSL3	Q9P2N6	321
SERTM2	TPM3	P06753	211
SERTM2	TMC6	Q7Z403	205
SERTM2	MLST8	Q9BVC4	203
SERTM2	ZSWIM1	Q9BR11	0
SERTM2	OR5C1	Q8NGR4	0
SERTM2	XKR5	Q6UX68	0
SERTM2	A0A2R8Y4M4	A0A2R8Y4M4	0
SERTM2	OR51C1	A0A3B3IT45	0

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0B4K753, A0A1B0GSN8, A0A1B0GWG4, F5HGU6, F5HI32, O39519, O39830, O55653, P02727, P03492, P08382, P09258, P0C575, P0C5T0, P0C5T3, P0C5T6, P0C9Y8, P16192, P16204, P16206, P16208, P16808, P17590, P24935, P36707, P69338, P69339, Q0A2D6, Q0A2E4, Q0A2I6, Q0A447, Q20P03, Q20PM2, Q2VC90, Q5R9E4, Q65223, Q66631, Q66655, Q67170, Q69569

Diamond homologs: A0A1B0GSN8, A0A1B0GWG4, A2A2V5, Q8CD78

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

578 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000402227 (X:111514284 C>A), RS1001052404 (X:111517163 G>C), RS1001208759 (X:111518090 T>C), RS1001267617 (X:111517655 C>T), RS1002337737 (X:111511759 A>C), RS1002819624 (X:111512161 G>A), RS1003065863 (X:111512851 T>C), RS1003081657 (X:111513242 C>T), RS1003232662 (X:111520491 T>C), RS1003307795 (X:111521133 T>C), RS1003451330 (X:111509992 C>T), RS1003623945 (X:111519486 G>C,T), RS1003706170 (X:111511504 T>C,G), RS1003824499 (X:111510714 G>A), RS1003849886 (X:111521205 C>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

1 associations (top):

Study	Trait	p-value
GCST011377_9	Shoulder impingement or rotator cuff tear	3.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases methylation	1
Doxorubicin	decreases expression	1

Clinical trials (associated diseases)

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