PMIS2

Summary

PMIS2 (PMIS2 transmembrane protein, HGNC:53649) is a protein-coding gene on chromosome 19q13.12, encoding Transmembrane protein PMIS2 (A0A1W2PS18). May play a role in spermatozoa mobility.

Predicted to act upstream of or within binding activity of sperm to zona pellucida. Predicted to be active in intracellular membrane-bounded organelle and membrane.

Source: NCBI Gene 111216276 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001395412

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53649
Approved symbol	PMIS2
Name	PMIS2 transmembrane protein
Location	19q13.12
Locus type	gene with protein product
Status	Approved
Aliases	IFITMD9
Ensembl gene	ENSG00000283758
Ensembl biotype	protein_coding
Entrez	111216276

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000640449, ENST00000646476

RefSeq mRNA: 2 — MANE Select: NM_001395412 NM_001395411, NM_001395412

CCDS: CCDS92590, CCDS92591

Canonical transcript exons

ENST00000640449 — 2 exons

Exon	Start	End
ENSE00003804854	35586976	35587296
ENSE00003808110	35586173	35586541

Expression profiles

Bgee: expression breadth broad, 15 present calls, max score 47.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	47.20	gold quality
testis	UBERON:0000473	46.56	gold quality
right testis	UBERON:0004534	45.55	gold quality
bone marrow cell	CL:0002092	40.80	gold quality
apex of heart	UBERON:0002098	40.04	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
sural nerve	UBERON:0015488	36.50	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	34.11	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
left adrenal gland cortex	UBERON:0035825	33.34	gold quality
right adrenal gland	UBERON:0001233	33.06	silver quality
adrenal gland	UBERON:0002369	32.79	gold quality
left adrenal gland	UBERON:0001234	32.36	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
adrenal tissue	UBERON:0018303	31.65	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
left lobe of thyroid gland	UBERON:0001120	29.63	silver quality
right lobe of thyroid gland	UBERON:0001119	29.49	silver quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
thyroid gland	UBERON:0002046	28.88	silver quality
tonsil	UBERON:0002372	28.76	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
leukocyte	CL:0000738	27.59	silver quality
monocyte	CL:0000576	27.58	silver quality
lymph node	UBERON:0000029	27.57	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.64

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem91	ENSDARG00000068456
mus_musculus	Pmis2	ENSMUSG00000049761
rattus_norvegicus		ENSRNOG00000082051

Paralogs (3): SYNDIG1 (ENSG00000101463), TMEM91 (ENSG00000142046), SYNDIG1L (ENSG00000183379)

Protein

Protein identifiers

Transmembrane protein PMIS2 — A0A1W2PS18 (reviewed: A0A1W2PS18)

All UniProt accessions (2): A0A1W2PS18, A0A2R8YHA6

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in spermatozoa mobility.

Subcellular location. Membrane.

Similarity. Belongs to the CD225/Dispanin family.

RefSeq proteins (2): NP_001382340, NP_001382341* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007593	CD225/Dispanin_fam	Family

Pfam: PF04505

UniProt features (7 total): compositionally biased region 3, transmembrane region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1W2PS18-F1	63.85	0.04

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr19q13

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

188 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PMIS2	PRSS37	A4D1T9	544
PMIS2	RNASE10	Q5GAN6	479
PMIS2	PRSS55	Q6UWB4	472
PMIS2	SYNDIG1L	A6NDD5	471
PMIS2	TEX101	Q9BY14	456
PMIS2	CATSPERD	Q86XM0	446
PMIS2	CFAP54	Q96N23	434
PMIS2	PDILT	Q8N807	417
PMIS2	GOLM2	Q6P4E1	400
PMIS2	SUN5	Q8TC36	398
PMIS2	CALR3	Q96L12	396
PMIS2	NPBWR2	P48146	391
PMIS2	TPST2	O60704	370
PMIS2	FREY1	C9JXX5	369
PMIS2	RSPH6A	Q9H0K4	367

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0D1E6R6, A0A1W2PS18, A2BT95, A3PF09, A8G719, A9BCL5, B0B9A0, B0BAX9, B6KEU8, C4PLJ5, C5FH98, D3UTF4, D4ARB8, D4DA58, F5HHL7, G5EEV9, O36399, O39519, O39830, O40984, O60148, O74437, O75956, O84876, O87787, O94592, P02726, P03186, P06498, P06849, P0C9Z8, P0C9Z9, P0CA00, P17194, P17195, P31084, P31619, Q1HVC7, Q2H3I7, Q2KEW0

Diamond homologs: A0A1W2PS18, Q8CES1

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

948 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:35586452:T:C	F65L	0.988
19:35586454:T:A	F65L	0.988
19:35586454:T:G	F65L	0.988
19:35587050:G:C	W119C	0.984
19:35587050:G:T	W119C	0.984
19:35587117:G:C	G142R	0.951
19:35587048:T:A	W119R	0.949
19:35587048:T:C	W119R	0.949
19:35586530:T:C	F91L	0.943
19:35586532:C:A	F91L	0.943
19:35586532:C:G	F91L	0.943
19:35587118:G:A	G142D	0.940
19:35586492:T:A	I78K	0.938
19:35586453:T:G	F65C	0.936
19:35586500:T:C	F81L	0.933
19:35586502:C:A	F81L	0.933
19:35586502:C:G	F81L	0.933
19:35586453:T:C	F65S	0.931
19:35586433:G:C	Q58H	0.923
19:35586433:G:T	Q58H	0.923
19:35587111:G:C	G140R	0.915
19:35587084:T:A	W131R	0.913
19:35587084:T:C	W131R	0.913
19:35586444:A:T	E62V	0.912
19:35586445:A:C	E62D	0.910
19:35586445:A:T	E62D	0.910
19:35587112:G:A	G140D	0.908
19:35586492:T:G	I78R	0.899
19:35586513:G:A	G85E	0.898
19:35586512:G:A	G85R	0.896

dbSNP variants (sampled 300 via entrez): RS1000095307 (19:35585389 T>C), RS1000147689 (19:35585637 C>T), RS1002457480 (19:35586857 C>T), RS1002800062 (19:35587699 CAT>C), RS1003461320 (19:35585297 GAGA>G), RS1003618300 (19:35585933 G>A), RS1004731755 (19:35586924 C>T), RS1005672960 (19:35586440 G>C), RS1006145012 (19:35585957 G>A,C), RS1006742636 (19:35584601 A>G), RS1007040714 (19:35584970 A>G), RS1007126945 (19:35585946 G>C), RS1008181472 (19:35584784 T>A), RS1008247918 (19:35587266 T>C), RS1008537199 (19:35584413 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.