PEX11G

Summary

PEX11G (peroxisomal biogenesis factor 11 gamma, HGNC:20208) is a protein-coding gene on chromosome 19p13.2, encoding Peroxisomal membrane protein 11C (Q96HA9). Promotes membrane protrusion and elongation on the peroxisomal surface.

The protein encoded by this gene is a member of the PEX11 family. This family is reported to regulate the number and size of peroxisomes in evolutionarily distant organisms. The protein encoded by this gene may induce clustering of peroxisomes. Alternative splicing results in multiple transcript variants that encode different protein isoforms.

Source: NCBI Gene 92960 — RefSeq curated summary.

At a glance

• Gene–disease (curated): peroxisome biogenesis disorder (No Known Disease Relationship, ClinGen)
• GWAS associations: 1
• Clinical variants (ClinVar): 35 total
• MANE Select transcript: NM_080662

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20208
Approved symbol	PEX11G
Name	peroxisomal biogenesis factor 11 gamma
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	PEX11gamma, PEX11γ
Ensembl gene	ENSG00000104883
Ensembl biotype	protein_coding
OMIM	607583
Entrez	92960

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 9 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000221480, ENST00000593547, ENST00000593942, ENST00000599519, ENST00000893528, ENST00000893529, ENST00000893530, ENST00000893531, ENST00000926525, ENST00000926526

RefSeq mRNA: 3 — MANE Select: NM_080662 NM_001270539, NM_001300881, NM_080662

CCDS: CCDS12178, CCDS77227

Canonical transcript exons

ENST00000221480 — 5 exons

Exon	Start	End
ENSE00001272257	7476875	7477436
ENSE00001272263	7488951	7489035
ENSE00003504013	7485838	7486026
ENSE00003562909	7478314	7478376
ENSE00003600419	7482033	7482211

Expression profiles

Bgee: expression breadth ubiquitous, 195 present calls, max score 89.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.6969 / max 108.2100, expressed in 1330 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178846	2.4926	1298
178845	0.1900	73
178848	0.0143	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	89.28	silver quality
right testis	UBERON:0004534	88.53	gold quality
right lobe of liver	UBERON:0001114	88.05	gold quality
left testis	UBERON:0004533	87.82	gold quality
upper arm skin	UBERON:0004263	87.46	gold quality
testis	UBERON:0000473	85.67	gold quality
nasal cavity epithelium	UBERON:0005384	85.44	gold quality
epithelial cell of pancreas	CL:0000083	85.28	gold quality
kidney epithelium	UBERON:0004819	85.24	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.81	gold quality
right adrenal gland	UBERON:0001233	83.13	gold quality
liver	UBERON:0002107	83.13	gold quality
right adrenal gland cortex	UBERON:0035827	83.11	gold quality
vena cava	UBERON:0004087	82.87	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	82.79	gold quality
left adrenal gland	UBERON:0001234	82.03	gold quality
left adrenal gland cortex	UBERON:0035825	81.94	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	81.79	gold quality
adrenal cortex	UBERON:0001235	81.78	gold quality
mucosa of transverse colon	UBERON:0004991	81.74	gold quality
cerebellar vermis	UBERON:0004720	80.76	gold quality
sperm	CL:0000019	80.66	silver quality
left ventricle myocardium	UBERON:0006566	80.19	gold quality
cardiac muscle of right atrium	UBERON:0003379	80.01	gold quality
right uterine tube	UBERON:0001302	79.49	gold quality
adrenal gland	UBERON:0002369	78.76	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	78.37	gold quality
bronchial epithelial cell	CL:0002328	77.94	gold quality
adult mammalian kidney	UBERON:0000082	77.88	gold quality
bronchus	UBERON:0002185	77.77	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting PEX11G, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-197-3P	98.09	69.23	1004
HSA-MIR-6072	98.00	66.47	804
HSA-MIR-3657	96.33	66.29	608
HSA-MIR-6891-3P	95.80	65.76	683
HSA-MIR-10392-3P	88.79	61.83	122

Literature-anchored findings (GeneRIF, showing 2)

• Data show that Pex11pgamma is a peroxisomal membrane protein, with both the N- and C-termini exposed to the cytosol. (PMID:12559946)
• coordinates peroxisome membrane proliferation and maintenance (PMID:20826455)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	pex11g	ENSDARG00000025559
mus_musculus	Pex11g	ENSMUSG00000069633
rattus_norvegicus	Pex11g	ENSRNOG00000028100
drosophila_melanogaster	Pex11c	FBGN0039068
drosophila_melanogaster	CG33474	FBGN0053474
caenorhabditis_elegans	prx-11	WBGENE00004196

Protein

Protein identifiers

Peroxisomal membrane protein 11C — Q96HA9 (reviewed: Q96HA9)

Alternative names: Peroxin-11C, Peroxisomal biogenesis factor 11C, Protein PEX11 homolog gamma

All UniProt accessions (2): Q96HA9, M0R328

UniProt curated annotations — full annotation on UniProt →

Function. Promotes membrane protrusion and elongation on the peroxisomal surface.

Subunit / interactions. Homodimer. Heterodimer with either PEX11A or PEX11B. Interacts with FIS1.

Subcellular location. Peroxisome membrane.

Similarity. Belongs to the peroxin-11 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96HA9-1	1	yes
Q96HA9-2	2

RefSeq proteins (3): NP_001257468, NP_001287810, NP_542393* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008733	PEX11	Family
IPR026510	PEX11C_met	Family

Pfam: PF05648

UniProt features (8 total): topological domain 3, transmembrane region 2, chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96HA9-F1	92.18	0.81

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 43 (showing top): GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_ORGANELLE_FISSION, GOCC_MICROBODY_MEMBRANE, CGTSACG_PAX3_B, GOCC_MICROBODY, chr19p13, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_PEROXISOME_FISSION, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_36HR, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D, YANG_BCL3_TARGETS_UP, LIM_MAMMARY_STEM_CELL_DN, FEV_TARGET_GENES, ZNF350_TARGET_GENES, ZNF8_TARGET_GENES

GO Biological Process (2): peroxisome fission (GO:0016559), regulation of peroxisome size (GO:0044375)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): peroxisome (GO:0005777), peroxisomal membrane (GO:0005778), protein-containing complex (GO:0032991), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
peroxisome organization	1
organelle fission	1
regulation of cellular component size	1
binding	1
microbody	1
peroxisome	1
microbody membrane	1
cellular_component	1
cellular anatomical structure	1

Protein interactions and networks

STRING

682 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PEX11G	PEX11A	O75192	969
PEX11G	PEX11B	O96011	968
PEX11G	PEX13	Q92968	736
PEX11G	PEX19	P40855	703
PEX11G	PEX16	Q9Y5Y5	697
PEX11G	PEX7	O00628	696
PEX11G	PEX6	Q13608	692
PEX11G	PEX5	P50542	681
PEX11G	PEX10	O60683	659
PEX11G	PEX12	O00623	648
PEX11G	PEX14	O75381	620
PEX11G	PEX3	P56589	595
PEX11G	PXMP2	Q9NR77	549
PEX11G	FIS1	Q9Y3D6	527
PEX11G	PXMP4	Q9Y6I8	524

IntAct

22 interactions, top by confidence:

A	B	Type	Score
TMEM86B	PEX11G	psi-mi:“MI:0915”(physical association)	0.560
PEX11G	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
PEX11G	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
AQP6	PEX11G	psi-mi:“MI:0915”(physical association)	0.560
KCNJ6	PEX11G	psi-mi:“MI:0915”(physical association)	0.560
PEX11G	PEX11A	psi-mi:“MI:0915”(physical association)	0.400
PEX11G	PEX11B	psi-mi:“MI:0915”(physical association)	0.400
PEX11G	PEX11G	psi-mi:“MI:0915”(physical association)	0.400
PEX11G	FIS1	psi-mi:“MI:0915”(physical association)	0.400
CREB3	PEX11G	psi-mi:“MI:0915”(physical association)	0.370
PEX11G	CREB3	psi-mi:“MI:0915”(physical association)	0.370
PEX11G	TMEM86B	psi-mi:“MI:0915”(physical association)	0.000
PEX11G	ERGIC3	psi-mi:“MI:0915”(physical association)	0.000
PEX11G	TMEM14B	psi-mi:“MI:0915”(physical association)	0.000
PEX11G	AQP6	psi-mi:“MI:0915”(physical association)	0.000
PEX11G	KCNJ6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (11): PEX11G (Two-hybrid), ERGIC3 (Two-hybrid), TMEM14B (Two-hybrid), KCNJ6 (Two-hybrid), TMEM86B (Two-hybrid), DNM1L (Phenotypic Enhancement), FIS1 (Phenotypic Suppression), PEX11A (Affinity Capture-Western), PEX11B (Affinity Capture-Western), PEX11G (Affinity Capture-Western), FIS1 (Affinity Capture-Western)

ESM2 similar proteins: A2XFC1, A2XFQ8, B0JYZ2, B4FBQ7, B6SR79, B8AK78, B9FGV7, C5WNF5, C5YDQ9, F2EL82, O70597, O75192, Q01IH3, Q01IJ3, Q0DSV9, Q0VCP2, Q10CI8, Q10MN2, Q10MN3, Q10MR5, Q10PZ4, Q2QTL0, Q4QRH7, Q5N9A1, Q5VQG8, Q5ZEG0, Q69P80, Q6ATB4, Q6EUK7, Q6INN0, Q6P6M5, Q6YSY5, Q6Z517, Q7X745, Q7XR51, Q7XTQ5, Q7XU74, Q7ZVP8, Q8LFP1, Q8RWG3

Diamond homologs: Q6P6M5, Q96HA9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

35 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1247 predictions. Top by Δscore:

Variant	Effect	Δscore
19:7477433:CGGG:C	acceptor_gain	1.0000
19:7482028:CTTA:C	donor_loss	1.0000
19:7482029:TTA:T	donor_loss	1.0000
19:7482030:TA:T	donor_loss	1.0000
19:7482031:A:AG	donor_loss	1.0000
19:7477432:GCGGG:G	acceptor_gain	0.9900
19:7477433:CGGGC:C	acceptor_gain	0.9900
19:7477434:GGG:G	acceptor_gain	0.9900
19:7477435:GG:G	acceptor_gain	0.9900
19:7477435:GGCT:G	acceptor_loss	0.9900
19:7477436:GCTGT:G	acceptor_loss	0.9900
19:7477437:C:CA	acceptor_loss	0.9900
19:7477437:C:CC	acceptor_gain	0.9900
19:7477438:T:A	acceptor_loss	0.9900
19:7478308:TCCTA:T	donor_loss	0.9900
19:7478309:CCTAC:C	donor_loss	0.9900
19:7478310:CTACC:C	donor_loss	0.9900
19:7478311:TACCT:T	donor_loss	0.9900
19:7478313:C:CT	donor_loss	0.9900
19:7478408:C:CT	acceptor_gain	0.9900
19:7478408:C:T	acceptor_gain	0.9900
19:7478409:G:T	acceptor_gain	0.9900
19:7479632:A:AC	donor_gain	0.9900
19:7479633:C:CC	donor_gain	0.9900
19:7479633:CTG:C	donor_gain	0.9900
19:7482026:CACTT:C	donor_loss	0.9900
19:7482027:ACTTA:A	donor_loss	0.9900
19:7482031:A:AC	donor_gain	0.9900
19:7482032:C:CC	donor_gain	0.9900
19:7482078:AGCGT:A	donor_gain	0.9900

AlphaMissense

1510 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:7485908:C:A	R60M	0.987
19:7482074:A:C	S129R	0.983
19:7482074:A:T	S129R	0.983
19:7482076:T:G	S129R	0.983
19:7482130:A:G	W111R	0.983
19:7482130:A:T	W111R	0.983
19:7485908:C:G	R60T	0.983
19:7485907:C:A	R60S	0.980
19:7485907:C:G	R60S	0.980
19:7482132:G:T	A110D	0.978
19:7477276:C:G	G218R	0.975
19:7482128:C:A	W111C	0.974
19:7482128:C:G	W111C	0.974
19:7485887:T:A	D67V	0.974
19:7482062:C:A	W133C	0.973
19:7482062:C:G	W133C	0.973
19:7482064:A:G	W133R	0.972
19:7482064:A:T	W133R	0.972
19:7482141:T:A	E107V	0.969
19:7482145:A:G	C106R	0.969
19:7477315:A:G	W205R	0.968
19:7477315:A:T	W205R	0.968
19:7477284:C:T	G215D	0.964
19:7485912:A:G	C59R	0.964
19:7477285:C:G	G215R	0.963
19:7482088:A:G	W125R	0.963
19:7482088:A:T	W125R	0.963
19:7482139:G:C	H108D	0.962
19:7477344:G:T	A195D	0.961
19:7486005:A:G	C28R	0.960

dbSNP variants (sampled 300 via entrez): RS1000059159 (19:7484903 T>A,G), RS1000106852 (19:7478766 G>A), RS1000118204 (19:7479027 C>T), RS1000172584 (19:7494182 C>T), RS1000350420 (19:7493906 A>C,T), RS1000367855 (19:7484507 G>A), RS1000371412 (19:7488719 T>C), RS1000716262 (19:7494524 A>T), RS1000809336 (19:7488486 G>A,C), RS1000854963 (19:7488723 A>C), RS1000971470 (19:7483360 T>C), RS1001112061 (19:7477714 C>T), RS1001122186 (19:7477939 T>A), RS1001455887 (19:7481016 G>A), RS1001971434 (19:7489944 G>A)

Disease associations

OMIM: gene MIM:607583 | disease phenotypes:

GenCC curated gene-disease

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
peroxisome biogenesis disorder	No Known Disease Relationship	AR

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009391_1095	Metabolite levels	6.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010446	2-hydroxyglutaric acid measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
pirinixic acid	increases activity, affects binding, decreases expression	1
bisphenol A	increases methylation	1
sodium arsenate	decreases expression, increases abundance	1
butyraldehyde	decreases expression	1
ferrous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
perfluorooctane sulfonic acid	increases expression	1
jinfukang	increases expression	1
Sunitinib	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Carbamazepine	affects expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Sodium Dodecyl Sulfate	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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