SMIM35

Summary

SMIM35 (small integral membrane protein 35, HGNC:44179) is a protein-coding gene on chromosome 11q23.3, encoding Small integral membrane protein 35 (A0A1B0GVV1).

Predicted to be located in membrane.

Source: NCBI Gene 100526771 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001394165

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44179
Approved symbol	SMIM35
Name	small integral membrane protein 35
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000255274
Ensembl biotype	protein_coding
Entrez	100526771

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding_CDS_not_defined, 2 protein_coding

ENST00000527329, ENST00000527695, ENST00000606951, ENST00000636151, ENST00000689828

RefSeq mRNA: 3 — MANE Select: NM_001394165 NM_001394164, NM_001394165, NM_001394166

CCDS: CCDS91602

Canonical transcript exons

ENST00000689828 — 5 exons

Exon	Start	End
ENSE00003797686	118015693	118015809
ENSE00003797850	118003634	118006376
ENSE00003799226	118014708	118014741
ENSE00003930628	118086751	118086963
ENSE00003933297	118013748	118013880

Expression profiles

Bgee: expression breadth ubiquitous, 110 present calls, max score 89.79.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2527 / max 31.8700, expressed in 36 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
122560	0.1426	35
122559	0.0612	31
122561	0.0489	32

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	89.79	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.50	silver quality
leukocyte	CL:0000738	66.43	gold quality
monocyte	CL:0000576	65.37	gold quality
bone marrow	UBERON:0002371	62.15	gold quality
blood	UBERON:0000178	61.82	gold quality
bone marrow cell	CL:0002092	59.24	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	58.93	gold quality
vermiform appendix	UBERON:0001154	58.05	gold quality
lymph node	UBERON:0000029	57.53	gold quality
spleen	UBERON:0002106	55.65	gold quality
gall bladder	UBERON:0002110	51.86	gold quality
adult mammalian kidney	UBERON:0000082	51.26	gold quality
lower esophagus mucosa	UBERON:0035834	50.93	gold quality
kidney	UBERON:0002113	50.12	gold quality
mucosa of transverse colon	UBERON:0004991	49.68	gold quality
tonsil	UBERON:0002372	47.86	gold quality
nucleus accumbens	UBERON:0001882	47.05	gold quality
putamen	UBERON:0001874	46.89	gold quality
corpus callosum	UBERON:0002336	46.89	silver quality
placenta	UBERON:0001987	46.33	gold quality
duodenum	UBERON:0002114	45.94	silver quality
adrenal tissue	UBERON:0018303	45.66	silver quality
caudate nucleus	UBERON:0001873	45.60	gold quality
liver	UBERON:0002107	45.51	gold quality
endometrium	UBERON:0001295	45.46	gold quality
cortex of kidney	UBERON:0001225	45.32	gold quality
small intestine Peyer’s patch	UBERON:0003454	44.87	gold quality
small intestine	UBERON:0002108	44.83	gold quality
esophagus mucosa	UBERON:0002469	44.76	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.91
E-MTAB-6379	no	35.39

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Smim35	ENSMUSG00000091996
rattus_norvegicus	Smim35	ENSRNOG00000076991

Protein

Protein identifiers

Small integral membrane protein 35 — A0A1B0GVV1 (reviewed: A0A1B0GVV1)

Alternative names: TMPRSS4 antisense RNA 1

All UniProt accessions (1): A0A1B0GVV1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (3): NP_001381093, NP_001381094, NP_001381095 (=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-A0A1B0GVV1-F1	67.53	0.22

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 14 (showing top): ZNF274_TARGET_GENES, DURANTE_ADULT_OLFACTORY_NEUROEPITHELIUM_MATURE_NEURONS, DESCARTES_FETAL_ADRENAL_MYELOID_CELLS, DESCARTES_FETAL_CEREBELLUM_MICROGLIA, DESCARTES_FETAL_CEREBRUM_MICROGLIA, DESCARTES_FETAL_EYE_MICROGLIA, DESCARTES_FETAL_HEART_MYELOID_CELLS, DESCARTES_FETAL_INTESTINE_MYELOID_CELLS, DESCARTES_FETAL_KIDNEY_MYELOID_CELLS, DESCARTES_FETAL_LIVER_MYELOID_CELLS, DESCARTES_FETAL_MUSCLE_MYELOID_CELLS, DESCARTES_FETAL_PANCREAS_MYELOID_CELLS, DESCARTES_FETAL_SPLEEN_MYELOID_CELLS, chr11q23

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

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GVV1, A0M8S0, A0M8T1, A0M8U1, A3KN28, A4D7R9, A9JRA0, B1AZA5, E9Q2Z6, P01134, P48030, Q00PJ0, Q07DV5, Q07DW9, Q07DX8, Q07DY8, Q07E08, Q07E45, Q09YH4, Q09YI5, Q09YJ7, Q09YK8, Q09YN2, Q108U3, Q1RLU8, Q2IBA8, Q2IBD0, Q2IBE0, Q2IBE8, Q2PG42, Q2QL86, Q2QLA6, Q2QLB7, Q2QLD7, Q2QLE8, Q2QLG2, Q3KRC4, Q3SXP7, Q5T292, Q68FW3

Diamond homologs: A0A1B0GVV1, E9Q2Z6

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	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

62 predictions. Top by Δscore:

Variant	Effect	Δscore
11:118077301:GCATG:G	donor_gain	0.9900
11:118077304:TGGTG:T	donor_loss	0.9900
11:118077306:G:GA	donor_loss	0.9900
11:118077306:G:GG	donor_gain	0.9800
11:118077308:GAGT:G	donor_loss	0.9800
11:118077304:TG:T	donor_gain	0.9600
11:118077305:GG:G	donor_gain	0.9600
11:118077276:G:GT	donor_gain	0.9200
11:118077309:AGTG:A	donor_loss	0.9200
11:118077302:CATG:C	donor_gain	0.9100
11:118078797:G:GC	acceptor_gain	0.9100
11:118077303:ATG:A	donor_gain	0.9000
11:118077125:G:GT	donor_gain	0.7300
11:118077310:GT:G	donor_gain	0.4800
11:118084947:GCAGC:G	donor_gain	0.4600
11:118077307:T:A	donor_gain	0.4200
11:118077216:G:GT	donor_gain	0.4100
11:118077305:GGT:G	donor_gain	0.4000
11:118077306:GTG:G	donor_gain	0.4000
11:118077303:ATGGT:A	donor_gain	0.3900
11:118077284:G:GT	donor_gain	0.3800
11:118077309:A:AG	donor_gain	0.3600
11:118077536:C:G	donor_gain	0.3600
11:118084998:GTCT:G	donor_gain	0.3500
11:118077309:A:AC	donor_gain	0.3400
11:118077308:G:GG	donor_gain	0.3300
11:118077191:G:T	donor_gain	0.3100
11:118079667:G:GT	donor_gain	0.3100
11:118084995:C:T	donor_gain	0.3100
11:118077339:G:GT	donor_gain	0.3000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000065514 (11:118053717 T>C), RS1000080854 (11:118051853 C>T), RS1000118854 (11:118047582 G>A,T), RS1000121025 (11:118075841 G>C), RS1000127429 (11:118024684 G>A,C), RS1000162818 (11:118032886 C>T), RS1000273430 (11:118072973 T>A,C,G), RS1000304402 (11:118072604 G>T), RS1000310578 (11:118021714 A>G), RS1000331459 (11:118067415 G>A), RS1000367120 (11:118064348 A>G), RS1000394783 (11:118027560 C>T), RS1000419504 (11:118064529 T>C), RS1000451992 (11:118027931 T>A,C), RS1000460039 (11:118057072 G>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

1 associations (top):

Study	Trait	p-value
GCST008153_15	Lean body mass	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004995	lean body mass

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
bisphenol A	affects cotreatment, increases methylation	1
Fulvestrant	affects cotreatment, increases methylation	1
Tobacco Smoke Pollution	increases expression	1

Clinical trials (associated diseases)

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