SMIM38

Summary

SMIM38 (small integral membrane protein 38, HGNC:54074) is a protein-coding gene on chromosome 11q13.3, encoding Small integral membrane protein 38 (A0A286YFK9).

Predicted to be located in membrane.

Source: NCBI Gene 107984345 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001369201

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:54074
Approved symbol	SMIM38
Name	small integral membrane protein 38
Location	11q13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000284713
Ensembl biotype	protein_coding
Entrez	107984345

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000641280, ENST00000641568, ENST00000686237, ENST00000686937, ENST00000894510

RefSeq mRNA: 2 — MANE Select: NM_001369201 NM_001369201, NM_001394169

CCDS: CCDS91523

Canonical transcript exons

ENST00000686237 — 3 exons

Exon	Start	End
ENSE00003812916	69157174	69159351
ENSE00003925867	69159446	69162440
ENSE00003932517	69155935	69156114

Expression profiles

Bgee: expression breadth ubiquitous, 122 present calls, max score 85.74.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3614 / max 71.4631, expressed in 40 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115573	0.2707	39
115572	0.0907	36

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
fundus of stomach	UBERON:0001160	85.74	gold quality
body of stomach	UBERON:0001161	85.66	gold quality
stomach	UBERON:0000945	83.53	gold quality
mucosa of stomach	UBERON:0001199	79.47	gold quality
body of uterus	UBERON:0009853	70.08	gold quality
stromal cell of endometrium	CL:0002255	69.31	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	68.41	gold quality
left ovary	UBERON:0002119	68.30	gold quality
lower esophagus muscularis layer	UBERON:0035833	68.00	gold quality
lower esophagus	UBERON:0013473	67.91	gold quality
muscle layer of sigmoid colon	UBERON:0035805	67.89	gold quality
right hemisphere of cerebellum	UBERON:0014890	67.73	gold quality
ovary	UBERON:0000992	67.17	gold quality
endocervix	UBERON:0000458	67.04	gold quality
myometrium	UBERON:0001296	66.86	gold quality
right ovary	UBERON:0002118	66.78	gold quality
cerebellar hemisphere	UBERON:0002245	66.78	gold quality
cerebellar cortex	UBERON:0002129	66.75	gold quality
cerebellum	UBERON:0002037	66.74	gold quality
body of pancreas	UBERON:0001150	66.34	gold quality
popliteal artery	UBERON:0002250	65.62	gold quality
tibial artery	UBERON:0007610	65.62	gold quality
left uterine tube	UBERON:0001303	65.05	gold quality
superior frontal gyrus	UBERON:0002661	64.50	gold quality
tibial nerve	UBERON:0001323	64.41	gold quality
vagina	UBERON:0000996	63.84	gold quality
right frontal lobe	UBERON:0002810	63.35	gold quality
uterine cervix	UBERON:0000002	62.72	gold quality
descending thoracic aorta	UBERON:0002345	61.62	gold quality
ectocervix	UBERON:0012249	61.62	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.81

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Smim38	ENSMUSG00000109305
rattus_norvegicus	Smim38	ENSRNOG00000088291

Protein

Protein identifiers

Small integral membrane protein 38 — A0A286YFK9 (reviewed: A0A286YFK9)

All UniProt accessions (1): A0A286YFK9

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (2): NP_001356130, NP_001381098 (=MANE)

Domains & families (InterPro)

UniProt features (2 total): chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A286YFK9-F1	76.97	0.32

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 3 (showing top): chr11q13, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, VECCHI_GASTRIC_CANCER_EARLY_DN

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

56 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SMIM38	TMDD1	P0DPE3	812
SMIM38	FAM240C	A0A1B0GVR7	794
SMIM38	SMIM28	A0A1B0GU29	765
SMIM38	SMIM36	A0A1B0GVT2	670
SMIM38	SMIM41	A0A2R8YCJ5	664
SMIM38	C1orf232	A0A0U1RR37	643
SMIM38	EDDM13	A0A1B0GTR0	643
SMIM38	SCYGR7	A0A286YF01	621
SMIM38	SPAAR	A0A1B0GVQ0	592
SMIM38	C10orf143	A0A1B0GUT2	592
SMIM38	CCDC201	A0A1B0GTI1	586
SMIM38	MYMX	A0A1B0GTQ4	525
SMIM38	STRIT1	P0DN84	520
SMIM38	ETDA	Q3ZM63	511
SMIM38	ETDC	A0A1B0GVM5	507

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GTQ4, A0A286YFK9, A0A291NUG3, A3PNA8, A4WCS4, A4WNL6, A6TBY2, A7HIY9, A8LMA3, B1VPE7, B4TBK3, B4UKG2, B5BCL0, B5EZL8, B5FPH7, B5R317, B5RCG1, B5XNU5, B8JDK6, B8XX90, B9KNZ3, C6DA53, O54625, P0C737, P0C738, P0C739, P0DJZ4, P0DJZ5, P0DQW1, P10306, P62816, P62817, Q00336, Q00644, Q16A98, Q1GXL5, Q28487, Q2IHR6, Q2Q5T5, Q2RP13

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000272610 (11:69155271 T>C), RS1000286731 (11:69156160 G>A), RS1000338830 (11:69155984 C>G), RS1000439425 (11:69161119 G>A), RS1000440776 (11:69159588 G>A,T), RS1001124636 (11:69160136 C>G,T), RS1001239059 (11:69159895 C>T), RS1001773244 (11:69155456 C>T), RS1002120252 (11:69159072 C>G), RS1002231078 (11:69153895 C>A), RS1002666289 (11:69162887 G>A), RS1002782762 (11:69157635 T>A), RS1003252511 (11:69161717 T>C), RS1003442410 (11:69156610 G>A), RS1003792279 (11:69158762 C>G)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
ethyl-p-hydroxybenzoate	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
Lipopolysaccharides	increases expression, affects response to substance, affects cotreatment	1

Clinical trials (associated diseases)

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