SMIM36

Summary

SMIM36 (small integral membrane protein 36, HGNC:53654) is a protein-coding gene on chromosome 17q22, encoding Small integral membrane protein 36 (A0A1B0GVT2).

Predicted to be located in membrane.

Source: NCBI Gene 101927367 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001395421

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53654
Approved symbol	SMIM36
Name	small integral membrane protein 36
Location	17q22
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000261873
Ensembl biotype	protein_coding
Entrez	101927367

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000572159, ENST00000577089, ENST00000636752

RefSeq mRNA: 1 — MANE Select: NM_001395421 NM_001395421

CCDS: CCDS92361

Canonical transcript exons

ENST00000636752 — 5 exons

Exon	Start	End
ENSE00002648479	55478762	55478813
ENSE00003717433	55479460	55479580
ENSE00003793679	55449856	55450298
ENSE00003796522	55467145	55467328
ENSE00003797129	55510879	55511452

Expression profiles

Bgee: expression breadth broad, 67 present calls, max score 86.54.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4683 / max 384.9381, expressed in 12 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167083	0.3597	12
167082	0.1086	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	86.54	gold quality
left testis	UBERON:0004533	84.34	gold quality
testis	UBERON:0000473	84.26	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.98	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.62	silver quality
sural nerve	UBERON:0015488	61.87	gold quality
stromal cell of endometrium	CL:0002255	48.77	gold quality
skeletal muscle tissue	UBERON:0001134	48.76	silver quality
bone marrow cell	CL:0002092	47.34	gold quality
corpus callosum	UBERON:0002336	46.18	silver quality
bone marrow	UBERON:0002371	45.65	gold quality
muscle tissue	UBERON:0002385	44.57	silver quality
cortical plate	UBERON:0005343	43.27	gold quality
monocyte	CL:0000576	42.68	silver quality
leukocyte	CL:0000738	41.80	silver quality
adrenal tissue	UBERON:0018303	41.63	silver quality
lymph node	UBERON:0000029	40.00	gold quality
tonsil	UBERON:0002372	38.32	gold quality
liver	UBERON:0002107	38.15	gold quality
blood	UBERON:0000178	37.48	gold quality
lower esophagus mucosa	UBERON:0035834	37.46	gold quality
uterine cervix	UBERON:0000002	37.23	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ganglionic eminence	UBERON:0004023	37.12	gold quality
subcutaneous adipose tissue	UBERON:0002190	36.49	gold quality
left adrenal gland cortex	UBERON:0035825	36.46	gold quality
muscle of leg	UBERON:0001383	36.37	gold quality
endometrium	UBERON:0001295	36.25	gold quality
adrenal gland	UBERON:0002369	36.23	silver quality
placenta	UBERON:0001987	36.13	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-6678	yes	10.72
E-ANND-3	yes	4.06

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	SMIM36	ENSDARG00000105527
rattus_norvegicus	Smim36	ENSRNOG00000069860

Protein

Protein identifiers

Small integral membrane protein 36 — A0A1B0GVT2 (reviewed: A0A1B0GVT2)

All UniProt accessions (1): A0A1B0GVT2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_001382350* (*=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-A0A1B0GVT2-F1	64.65	0.22

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 17 (showing top): MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, FOSTER_TOLERANT_MACROPHAGE_UP, KUNINGER_IGF1_VS_PDGFB_TARGETS_DN, chr17q22, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, TORCHIA_TARGETS_OF_EWSR1_FLI1_FUSION_DN, IKEDA_MIR1_TARGETS_DN, IKEDA_MIR30_TARGETS_DN, HES2_TARGET_GENES, IGLV5_37_TARGET_GENES, ZNF597_TARGET_GENES, MANNE_COVID19_ICU_VS_HEALTHY_DONOR_PLATELETS_DN, MANNE_COVID19_COMBINED_COHORT_VS_HEALTHY_DONOR_PLATELETS_DN, DESCARTES_MAIN_FETAL_BIPOLAR_CELLS, ZBTB5_TARGET_GENES

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

615 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SMIM36	C1orf232	A0A0U1RR37	772
SMIM36	SMIM41	A0A2R8YCJ5	678
SMIM36	SMIM38	A0A286YFK9	670
SMIM36	EDDM13	A0A1B0GTR0	664
SMIM36	TMDD1	P0DPE3	659
SMIM36	SCYGR7	A0A286YF01	657
SMIM36	FAM240C	A0A1B0GVR7	625
SMIM36	C10orf143	A0A1B0GUT2	602
SMIM36	CCDC201	A0A1B0GTI1	600
SMIM36	SMIM28	A0A1B0GU29	581
SMIM36	ETDA	Q3ZM63	544
SMIM36	ETDC	A0A1B0GVM5	543
SMIM36	SCYGR1	A0A286YEY9	506
SMIM36	SMIM31	A0A1B0GVY4	497
SMIM36	KIF25	Q9UIL4	390

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GRQ0, A0A1B0GSZ0, A0A1B0GVT2, A0A590UK83, A0PK05, A2VDU1, A2VE22, A4QNL6, A5D7B5, A5D992, O43609, O75324, P0DKX4, P29414, P61807, P61808, Q0VFM5, Q15053, Q16655, Q17Q87, Q1L0X2, Q2KIK3, Q2TBG9, Q3MHM8, Q498C7, Q4V921, Q58CU5, Q5RBD8, Q5RF07, Q5RGQ8, Q64448, Q6UWT2, Q80ZU4, Q8BGN6, Q8BUM6, Q8C3K5, Q8C817, Q8K1D8, Q8N6S5, Q91VT8

Diamond homologs: A0A1B0GRQ0, A0A1B0GVT2

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

595 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:55511275:G:C	S20R	0.999
17:55511275:G:T	S20R	0.999
17:55511277:T:G	S20R	0.999
17:55511294:A:G	L14P	0.998
17:55511296:G:C	N13K	0.997
17:55511296:G:T	N13K	0.997
17:55511241:A:G	C32R	0.993
17:55511285:A:G	L17P	0.993
17:55511251:G:C	F28L	0.992
17:55511251:G:T	F28L	0.992
17:55511253:A:G	F28L	0.992
17:55511285:A:T	L17Q	0.990
17:55511261:A:G	L25P	0.989
17:55511240:C:T	C32Y	0.988
17:55511261:A:T	L25H	0.988
17:55511312:T:C	D8G	0.987
17:55511249:A:G	L29P	0.986
17:55511282:A:T	V18D	0.986
17:55511274:A:G	Y21H	0.985
17:55511312:T:A	D8V	0.985
17:55511226:A:G	C37R	0.984
17:55511252:A:G	F28S	0.984
17:55511285:A:C	L17R	0.984
17:55511261:A:C	L25R	0.983
17:55511239:G:C	C32W	0.982
17:55511300:A:G	L12S	0.982
17:55511264:A:G	L24S	0.981
17:55511309:G:T	P9H	0.980
17:55511225:C:T	C37Y	0.979
17:55511249:A:T	L29H	0.979

dbSNP variants (sampled 300 via entrez): RS1000041527 (17:55454154 G>A,T), RS1000049719 (17:55527720 G>A), RS1000049884 (17:55514630 G>A), RS1000082249 (17:55514958 G>A), RS1000089824 (17:55491273 C>A,G,T), RS1000151324 (17:55468756 C>A), RS1000170367 (17:55463448 T>C), RS1000185014 (17:55468214 G>T), RS1000196151 (17:55459134 C>T), RS1000215681 (17:55467734 C>T), RS1000239397 (17:55496649 C>T), RS1000262647 (17:55508804 G>T), RS1000331286 (17:55457208 G>A,C), RS1000351505 (17:55495307 A>G), RS1000353420 (17:55496873 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

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.