SMIM46

Summary

SMIM46 (small integral membrane protein 46, HGNC:56307) is a protein-coding gene on chromosome 19p13.12, encoding Small integral membrane protein 46 (P0DQW1).

Predicted to be located in membrane.

Source: NCBI Gene 127138866 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001414411

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:56307
Approved symbol	SMIM46
Name	small integral membrane protein 46
Location	19p13.12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000289762
Ensembl biotype	protein_coding
Entrez	127138866

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000699221

RefSeq mRNA: 1 — MANE Select: NM_001414411 NM_001414411

Canonical transcript exons

ENST00000699221 — 1 exons

Exon	Start	End
ENSE00003975999	14112324	14112476

Expression profiles

Top tissues by expression

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

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Smim46	ENSMUSG00000121579

Protein

Protein identifiers

Small integral membrane protein 46 — P0DQW1 (reviewed: P0DQW1)

All UniProt accessions (2): A0A8V8TMW6, P0DQW1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_001401340* (*=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-P0DQW1-F1	79.15	0.32

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr19p13

GO Biological Process (1): biological_process (GO:0008150)

GO Molecular Function (1): molecular_function (GO:0003674)

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: 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:

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.