SMIM28

Summary

SMIM28 (small integral membrane protein 28, HGNC:53434) is a protein-coding gene on chromosome 6q24.1, encoding Small integral membrane protein 28 (A0A1B0GU29).

Predicted to be located in membrane.

Source: NCBI Gene 110806279 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001368163

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53434
Approved symbol	SMIM28
Name	small integral membrane protein 28
Location	6q24.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000262543
Ensembl biotype	protein_coding
Entrez	110806279

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000573100

RefSeq mRNA: 1 — MANE Select: NM_001368163 NM_001368163

CCDS: CCDS94012

Canonical transcript exons

ENST00000573100 — 2 exons

Exon	Start	End
ENSE00002641204	138382500	138383486
ENSE00002673692	138377905	138378183

Expression profiles

Bgee: expression breadth broad, 25 present calls, max score 66.62.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
muscle layer of sigmoid colon	UBERON:0035805	66.62	gold quality
colon	UBERON:0001155	56.87	gold quality
intestine	UBERON:0000160	52.25	gold quality
colonic epithelium	UBERON:0000397	50.92	gold quality
transverse colon	UBERON:0001157	50.84	gold quality
rectum	UBERON:0001052	49.91	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	49.66	silver quality
vermiform appendix	UBERON:0001154	49.42	gold quality
smooth muscle tissue	UBERON:0001135	44.46	gold quality
duodenum	UBERON:0002114	43.81	gold quality
small intestine	UBERON:0002108	39.79	gold quality
small intestine Peyer’s patch	UBERON:0003454	39.07	gold quality
muscle tissue	UBERON:0002385	37.96	gold quality
mucosa of transverse colon	UBERON:0004991	37.57	silver quality
islet of Langerhans	UBERON:0000006	36.56	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	34.88	gold quality
mucosa of stomach	UBERON:0001199	33.08	gold quality
tonsil	UBERON:0002372	32.65	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
monocyte	CL:0000576	31.49	gold quality
leukocyte	CL:0000738	31.14	gold quality
fundus of stomach	UBERON:0001160	31.04	gold quality
right hemisphere of cerebellum	UBERON:0014890	30.89	gold quality
prefrontal cortex	UBERON:0000451	30.74	gold quality
stomach	UBERON:0000945	30.16	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.64

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Small integral membrane protein 28 — A0A1B0GU29 (reviewed: A0A1B0GU29)

All UniProt accessions (1): A0A1B0GU29

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_001355092* (*=MANE)

Domains & families (InterPro)

UniProt features (3 total): chain 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GU29-F1	64.20	0.14

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 4 (showing top): DESCARTES_MAIN_FETAL_ENS_NEURONS, DESCARTES_FETAL_INTESTINE_ENS_NEURONS, DESCARTES_FETAL_PANCREAS_ENS_NEURONS, chr6q24

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

94 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SMIM28	TMDD1	P0DPE3	766
SMIM28	SMIM38	A0A286YFK9	765
SMIM28	FAM240C	A0A1B0GVR7	763
SMIM28	FNDC9	Q8TBE3	582
SMIM28	SMIM36	A0A1B0GVT2	581
SMIM28	SMIM41	A0A2R8YCJ5	580
SMIM28	EDDM13	A0A1B0GTR0	575
SMIM28	C1orf232	A0A0U1RR37	574
SMIM28	SCYGR7	A0A286YF01	571
SMIM28	ZNF814	B7Z6K7	506
SMIM28	CCDC201	A0A1B0GTI1	480
SMIM28	C10orf143	A0A1B0GUT2	449
SMIM28	SPAAR	A0A1B0GVQ0	448
SMIM28	NXPH3	O95157	435
SMIM28	ETDA	Q3ZM63	433

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GU29, A6NLX4, A6QNY1, A9CBA0, B7ZWI3, O14669, O88472, P14784, P16297, P25918, P26896, Q0VFL4, Q13651, Q32M26, Q38J84, Q38J85, Q3SYS8, Q58CT8, Q5BK39, Q5EAA5, Q5HZE8, Q5NCP0, Q5RCL0, Q64322, Q68DV7, Q6AXS2, Q6AXU5, Q6NUJ2, Q6UWV7, Q86UW2, Q8BHB3, Q8BLR5, Q8BSU2, Q8C353, Q8C708, Q8K1T1, Q8MII8, Q8N6P7, Q8NET5, Q8R182

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

957 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:138378106:T:C	F12L	0.983
6:138378108:T:A	F12L	0.983
6:138378108:T:G	F12L	0.983
6:138382561:C:G	P58R	0.961
6:138382585:C:A	A66E	0.947
6:138382542:T:C	F52L	0.942
6:138382544:C:A	F52L	0.942
6:138382544:C:G	F52L	0.942
6:138382576:T:G	L63R	0.940
6:138378138:G:C	W22C	0.935
6:138378138:G:T	W22C	0.935
6:138382564:C:A	A59D	0.931
6:138382576:T:A	L63H	0.931
6:138382561:C:A	P58Q	0.925
6:138378107:T:G	F12C	0.922
6:138382558:T:G	L57R	0.917
6:138378099:G:C	W9C	0.914
6:138378099:G:T	W9C	0.914
6:138378136:T:A	W22R	0.913
6:138378136:T:C	W22R	0.913
6:138382587:T:C	F67L	0.912
6:138382589:T:A	F67L	0.912
6:138382589:T:G	F67L	0.912
6:138382555:T:A	L56H	0.897
6:138382555:T:G	L56R	0.897
6:138382543:T:G	F52C	0.890
6:138382794:G:C	A136P	0.890
6:138382582:T:G	L65R	0.871
6:138382785:T:C	Y133H	0.870
6:138382644:T:C	F86L	0.864

dbSNP variants (sampled 300 via entrez): RS1000850396 (6:138380715 C>T), RS1001154770 (6:138378391 C>T), RS1001307371 (6:138380917 T>A), RS1001717025 (6:138380722 G>A,C), RS1001748261 (6:138380909 G>T), RS1002353331 (6:138381062 C>A), RS1002690703 (6:138382534 TG>T), RS1002718382 (6:138382056 A>T), RS1002816557 (6:138381395 T>C), RS1004080723 (6:138377002 T>A,C), RS1004092555 (6:138383480 G>A,C), RS1004234445 (6:138382215 G>C), RS1004294081 (6:138376092 C>G,T), RS1004432503 (6:138376712 A>C), RS1004877143 (6:138383213 C>A)

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)

Clinical trials (associated diseases)

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