SMIM44

Summary

SMIM44 (small integral membrane protein 44, HGNC:55815) is a protein-coding gene on chromosome 19p13.3, encoding Small integral membrane protein 44 (A0A286YF18).

Predicted to be located in membrane.

Source: NCBI Gene 122405565 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001395954

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:55815
Approved symbol	SMIM44
Name	small integral membrane protein 44
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000284638
Ensembl biotype	protein_coding
Entrez	122405565

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641816

RefSeq mRNA: 1 — MANE Select: NM_001395954 NM_001395954

CCDS: CCDS92485

Canonical transcript exons

ENST00000641816 — 2 exons

Exon	Start	End
ENSE00003978316	3483202	3483441
ENSE00003978317	3482110	3483051

Expression profiles

Bgee: expression breadth broad, 48 present calls, max score 80.39.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
duodenum	UBERON:0002114	80.39	gold quality
mucosa of transverse colon	UBERON:0004991	68.08	gold quality
small intestine	UBERON:0002108	60.27	gold quality
small intestine Peyer’s patch	UBERON:0003454	59.12	gold quality
metanephros cortex	UBERON:0010533	56.39	gold quality
transverse colon	UBERON:0001157	56.17	gold quality
body of stomach	UBERON:0001161	55.91	gold quality
stomach	UBERON:0000945	52.99	gold quality
bone marrow	UBERON:0002371	52.81	gold quality
intestine	UBERON:0000160	47.54	gold quality
bone marrow cell	CL:0002092	46.71	gold quality
cortex of kidney	UBERON:0001225	46.11	gold quality
fundus of stomach	UBERON:0001160	45.57	gold quality
pituitary gland	UBERON:0000007	44.09	gold quality
adenohypophysis	UBERON:0002196	44.03	gold quality
adult mammalian kidney	UBERON:0000082	43.64	gold quality
sural nerve	UBERON:0015488	43.46	gold quality
colon	UBERON:0001155	43.45	gold quality
kidney	UBERON:0002113	42.30	gold quality
right uterine tube	UBERON:0001302	41.96	silver quality
colonic epithelium	UBERON:0000397	41.40	gold quality
endometrium	UBERON:0001295	40.78	gold quality
hindlimb stylopod muscle	UBERON:0004252	37.29	silver quality
mucosa of stomach	UBERON:0001199	36.75	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
prostate gland	UBERON:0002367	35.61	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
islet of Langerhans	UBERON:0000006	34.94	gold quality
monocyte	CL:0000576	34.15	silver 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

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm48552	ENSMUSG00000114004
rattus_norvegicus	Smim44	ENSRNOG00000066999

Protein

Protein identifiers

Small integral membrane protein 44 — A0A286YF18 (reviewed: A0A286YF18)

All UniProt accessions (1): A0A286YF18

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_001382883* (*=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-A0A286YF18-F1	65.77	0.08

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

1208 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SMIM44	AASDH	Q4L235	353
SMIM44	QTRT1	Q9BXR0	292
SMIM44	NTAQ1	Q96HA8	292
SMIM44	OSTM1	Q86WC4	270
SMIM44	SCP2	P22307	253
SMIM44	UQCRB	P14927	250
SMIM44	ACAA1	P09110	248
SMIM44	H6PD	O95479	232
SMIM44	TRABD	Q9H4I3	215
SMIM44	ECHS1	P30084	209
SMIM44	ECHDC1	Q9NTX5	209
SMIM44	HSDL2	Q6YN16	208
SMIM44	ACAD11	Q709F0	207
SMIM44	ACAD10	Q6JQN1	207
SMIM44	GADD45GIP1	Q8TAE8	205

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0U1RRL7, A0A286YF18, A0JWY5, A1L429, A6NDE8, A6NER3, A8WFF7, B1ARW8, B8H8L5, E9PXT9, O76087, P04487, P06924, P0C675, P0CL80, P0CL81, P0CL82, P0DSO3, P0DTW1, P22157, P25483, P26550, P56958, P86478, P86479, P86480, P86481, P86496, Q13066, Q13069, Q13070, Q1HVH9, Q32LJ5, Q3KSU8, Q4V321, Q4V326, Q66619, Q66659, Q6NT46, Q7YR45

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

935 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:3483231:A:G	L58P	0.998
19:3483222:T:G	D61A	0.996
19:3483243:A:T	I54N	0.996
19:3483231:A:T	L58H	0.995
19:3483210:T:A	D65V	0.993
19:3483219:A:G	L62P	0.993
19:3483222:T:A	D61V	0.993
19:3483225:T:A	K60I	0.993
19:3483255:A:T	V50D	0.993
19:3483216:G:T	A63D	0.992
19:3483233:G:C	H57Q	0.992
19:3483233:G:T	H57Q	0.992
19:3483237:C:T	G56E	0.992
19:3483210:T:G	D65A	0.991
19:3483219:A:T	L62H	0.991
19:3483222:T:C	D61G	0.991
19:3483240:A:T	V55D	0.991
19:3483246:G:T	A53D	0.991
19:3483210:T:C	D65G	0.990
19:3483221:G:C	D61E	0.990
19:3483221:G:T	D61E	0.990
19:3483223:C:G	D61H	0.990
19:3483224:T:A	K60N	0.990
19:3483224:T:G	K60N	0.990
19:3483228:A:T	I59N	0.990
19:3483252:G:T	A51D	0.989
19:3483238:C:G	G56R	0.988
19:3483238:C:T	G56R	0.988
19:3483235:G:C	H57D	0.987
19:3483207:A:G	L66P	0.986

dbSNP variants (sampled 300 via entrez): RS1000237971 (19:3482324 G>A,T), RS1000287354 (19:3482229 C>T), RS1000690007 (19:3482152 C>A,G,T), RS1001695441 (19:3483394 G>T), RS1002298204 (19:3484465 G>C), RS1003743169 (19:3485164 A>C,G), RS1004067570 (19:3483378 T>A,C), RS1004360071 (19:3482903 G>A,T), RS1004412341 (19:3482670 C>G,T), RS1004693522 (19:3484138 G>A,C,T), RS1004747336 (19:3483872 G>A), RS1006876380 (19:3484202 G>C,T), RS1007826946 (19:3483268 C>T), RS1008019171 (19:3481664 G>A), RS1008971168 (19:3482543 G>A,C)

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.