SMIM34

Summary

SMIM34 (small integral membrane protein 34, HGNC:39601) is a protein-coding gene on chromosome 21q22.12, encoding Small integral membrane protein 34 (A8MWV9).

Predicted to be located in membrane.

Source: NCBI Gene 388820 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001367348

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:39601
Approved symbol	SMIM34
Name	small integral membrane protein 34
Location	21q22.12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000243627
Ensembl biotype	protein_coding
Entrez	388820

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay

ENST00000450895, ENST00000850648

RefSeq mRNA: 1 — MANE Select: NM_001367348 NM_001367348

CCDS: CCDS93093

Canonical transcript exons

ENST00000450895 — 2 exons

Exon	Start	End
ENSE00001791276	34418715	34419630
ENSE00004282425	34423833	34423951

Expression profiles

Bgee: expression breadth broad, 98 present calls, max score 69.97.

FANTOM5 (CAGE): breadth not_expressed, TPM avg 0.0002 / max 0.1948, expressed in 0 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190275	0.0002	0

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
olfactory segment of nasal mucosa	UBERON:0005386	69.97	gold quality
apex of heart	UBERON:0002098	56.70	gold quality
ganglionic eminence	UBERON:0004023	54.36	gold quality
granulocyte	CL:0000094	49.63	silver quality
bone marrow cell	CL:0002092	48.80	gold quality
cortical plate	UBERON:0005343	46.82	gold quality
blood	UBERON:0000178	45.52	gold quality
monocyte	CL:0000576	45.46	gold quality
smooth muscle tissue	UBERON:0001135	45.10	gold quality
leukocyte	CL:0000738	44.86	gold quality
bone marrow	UBERON:0002371	43.73	gold quality
muscle tissue	UBERON:0002385	42.82	silver quality
sural nerve	UBERON:0015488	42.40	gold quality
stromal cell of endometrium	CL:0002255	39.93	gold quality
tonsil	UBERON:0002372	39.70	gold quality
prefrontal cortex	UBERON:0000451	39.66	gold quality
calcaneal tendon	UBERON:0003701	39.54	silver quality
right lung	UBERON:0002167	39.34	gold quality
liver	UBERON:0002107	38.85	gold quality
ectocervix	UBERON:0012249	37.72	gold quality
right atrium auricular region	UBERON:0006631	37.36	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
vermiform appendix	UBERON:0001154	36.35	silver quality
heart	UBERON:0000948	36.24	gold quality
heart left ventricle	UBERON:0002084	35.77	gold quality
gall bladder	UBERON:0002110	35.31	silver quality
muscle of leg	UBERON:0001383	34.68	gold quality
kidney	UBERON:0002113	34.50	gold quality
right lobe of liver	UBERON:0001114	34.23	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.29

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Smim34	ENSMUSG00000116967

Protein

Protein identifiers

Small integral membrane protein 34 — A8MWV9 (reviewed: A8MWV9)

All UniProt accessions (1): A8MWV9

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (2): NP_001354277, NP_001373749 (=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-A8MWV9-F1	61.54	0.12

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 8 (showing top): SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, chr21q22, DODD_NASOPHARYNGEAL_CARCINOMA_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_2, DESCARTES_MAIN_FETAL_CILIATED_EPITHELIAL_CELLS, DESCARTES_FETAL_CEREBRUM_EXCITATORY_NEURONS, DESCARTES_FETAL_LUNG_CILIATED_EPITHELIAL_CELLS, ODONNELL_TFRC_TARGETS_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

8 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SMIM34	LIPT2	A6NK58	716
SMIM34	RBPMS	Q93062	476
SMIM34	KCNA5	P22460	400
SMIM34	APOB	P04114	227

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GW64, A0A5F4BST2, A0PJX4, A8MVS5, A8MWV9, B0FP48, E5RIL1, E9PGG2, O14836, O60320, O95998, P09564, Q01113, Q01114, Q13477, Q2KI80, Q2T9R2, Q3TS39, Q3UPR0, Q3URD2, Q4V9L6, Q5FVJ4, Q5M869, Q6A044, Q6UWJ8, Q75VT8, Q864V4, Q8BRJ3, Q8BX43, Q8C503, Q8IVY1, Q8K5A9, Q8N112, Q8NC24, Q8NDY8, Q8QZT4, Q8R138, Q969Z4, Q9BUF7, Q9CQM1

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

425 predictions. Top by Δscore:

Variant	Effect	Δscore
21:34423831:A:AC	donor_gain	1.0000
21:34423831:ACATT:A	donor_gain	1.0000
21:34423832:C:CC	donor_gain	1.0000
21:34423832:CATTC:C	donor_gain	1.0000
21:34423825:GTACT:G	donor_loss	0.9900
21:34423827:ACT:A	donor_loss	0.9900
21:34423829:TCAC:T	donor_loss	0.9900
21:34423830:CACAT:C	donor_loss	0.9900
21:34423831:ACA:A	donor_loss	0.9900
21:34423832:C:CG	donor_loss	0.9900
21:34423832:CA:C	donor_gain	0.9900
21:34423832:CATT:C	donor_gain	0.9900
21:34423826:TAC:T	donor_loss	0.9800
21:34423832:CAT:C	donor_gain	0.9800
21:34423835:T:A	donor_gain	0.9800
21:34422760:A:AC	donor_gain	0.9700
21:34419628:CCC:C	acceptor_gain	0.9600
21:34419629:CC:C	acceptor_gain	0.9600
21:34419629:CCC:C	acceptor_gain	0.9600
21:34419629:CCCT:C	acceptor_loss	0.9600
21:34419630:CC:C	acceptor_gain	0.9600
21:34419630:CCT:C	acceptor_loss	0.9600
21:34419631:C:CC	acceptor_gain	0.9600
21:34419631:CTGAG:C	acceptor_loss	0.9600
21:34419632:T:C	acceptor_loss	0.9600
21:34422761:T:C	donor_gain	0.9400
21:34419631:C:T	acceptor_gain	0.9200
21:34422804:C:CA	donor_gain	0.8900
21:34423797:A:AT	donor_gain	0.8900
21:34419627:GCCC:G	acceptor_gain	0.8800

AlphaMissense

895 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:34419466:C:G	G58R	0.952
21:34419480:A:T	I53K	0.947
21:34419465:C:T	G58D	0.936
21:34419456:G:T	A61E	0.927
21:34419487:A:G	W51R	0.924
21:34419487:A:T	W51R	0.924
21:34419480:A:C	I53R	0.916
21:34419428:G:C	S70R	0.900
21:34419428:G:T	S70R	0.900
21:34419430:T:G	S70R	0.900
21:34419432:G:T	A69D	0.898
21:34419440:G:C	F66L	0.892
21:34419440:G:T	F66L	0.892
21:34419442:A:G	F66L	0.892
21:34419477:A:T	L54H	0.888
21:34419460:A:C	Y60D	0.872
21:34419484:A:G	Y52H	0.852
21:34419489:G:T	A50D	0.852
21:34419471:A:T	I56N	0.844
21:34419477:A:G	L54P	0.840
21:34419477:A:C	L54R	0.839
21:34419457:C:G	A61P	0.838
21:34419435:A:G	L68P	0.837
21:34419444:A:T	V65D	0.834
21:34419453:A:T	V62E	0.831
21:34419492:G:T	A49D	0.831
21:34419468:A:T	I57N	0.817
21:34419485:C:A	W51C	0.807
21:34419485:C:G	W51C	0.807
21:34419484:A:C	Y52D	0.805

dbSNP variants (sampled 300 via entrez): RS1000364630 (21:34422243 T>C), RS1001800269 (21:34421323 A>G), RS1003743532 (21:34419611 A>G), RS1006225262 (21:34419592 G>C), RS1006977629 (21:34425650 TTATAA>T), RS1007623330 (21:34414275 A>G), RS1008114604 (21:34424302 G>T), RS1009070345 (21:34419277 G>A), RS1009760614 (21:34420305 G>A), RS1009888181 (21:34418505 C>A), RS1010239344 (21:34414255 C>A), RS1010476553 (21:34415367 G>GT), RS1010767241 (21:34418895 C>T), RS1014422290 (21:34416652 C>T), RS1015391879 (21:34423995 T>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
Tobacco Smoke Pollution	decreases expression	1
Lactic Acid	decreases expression	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

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