C11orf96

Summary

C11orf96 (chromosome 11 open reading frame 96, HGNC:38675) is a protein-coding gene on chromosome 11p11.2, encoding Uncharacterized protein C11orf96 (Q7Z7L8).

At a glance

• GWAS associations: 2
• MANE Select transcript: NM_001145033

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:38675
Approved symbol	C11orf96
Name	chromosome 11 open reading frame 96
Location	11p11.2
Locus type	gene with protein product
Status	Approved
Aliases	AG2
Ensembl gene	ENSG00000187479
Ensembl biotype	protein_coding
Entrez	387763

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000617612

RefSeq mRNA: 1 — MANE Select: NM_001145033 NM_001145033

CCDS: CCDS73275

Canonical transcript exons

ENST00000617612 — 1 exons

Exon	Start	End
ENSE00003721856	43942637	43943878

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 99.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 45.7611 / max 2835.1450, expressed in 1484 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
113967	41.6098	1457
113966	3.8805	682
113968	0.1322	61
113970	0.1100	45
113969	0.0285	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
vena cava	UBERON:0004087	99.86	gold quality
saphenous vein	UBERON:0007318	99.84	gold quality
superficial temporal artery	UBERON:0001614	99.76	gold quality
popliteal artery	UBERON:0002250	99.70	gold quality
tibial artery	UBERON:0007610	99.70	gold quality
pericardium	UBERON:0002407	99.66	gold quality
cauda epididymis	UBERON:0004360	99.60	gold quality
left uterine tube	UBERON:0001303	99.59	gold quality
aorta	UBERON:0000947	99.56	gold quality
mucosa of stomach	UBERON:0001199	99.56	gold quality
endothelial cell	CL:0000115	99.54	gold quality
urethra	UBERON:0000057	99.51	gold quality
coronary artery	UBERON:0001621	99.40	gold quality
right coronary artery	UBERON:0001625	99.40	gold quality
ascending aorta	UBERON:0001496	99.39	gold quality
thoracic aorta	UBERON:0001515	99.38	gold quality
left coronary artery	UBERON:0001626	99.38	gold quality
right ovary	UBERON:0002118	99.31	gold quality
decidua	UBERON:0002450	99.31	gold quality
adult organism	UBERON:0007023	99.31	gold quality
left ovary	UBERON:0002119	99.23	gold quality
descending thoracic aorta	UBERON:0002345	99.16	gold quality
seminal vesicle	UBERON:0000998	99.10	gold quality
lower lobe of lung	UBERON:0008949	99.03	gold quality
nipple	UBERON:0002030	98.85	gold quality
omental fat pad	UBERON:0010414	98.64	gold quality
endocervix	UBERON:0000458	98.63	gold quality
peritoneum	UBERON:0002358	98.60	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.52	gold quality
cardia of stomach	UBERON:0001162	98.38	gold quality

Single-cell (SCXA)

Detected in 21 experiment(s), a significant marker in 20.

Experiment	Marker?	Max mean expression
E-MTAB-10855	yes	11277.20
E-HCAD-36	yes	6338.53
E-MTAB-9841	yes	6320.38
E-HCAD-38	yes	3156.98
E-GEOD-124263	yes	2669.57
E-HCAD-11	yes	2602.61
E-MTAB-6701	yes	1315.35
E-GEOD-134144	yes	956.71
E-MTAB-10662	yes	663.68
E-HCAD-30	yes	130.95
E-MTAB-10287	yes	48.77
E-GEOD-135922	yes	39.60
E-MTAB-8142	yes	37.63
E-HCAD-1	yes	32.26
E-GEOD-81547	yes	11.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting C11orf96, 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-574-5P	100.00	66.01	989
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-4658	99.77	64.94	514
HSA-MIR-6790-5P	99.77	65.24	505
HSA-MIR-4255	99.72	67.70	1541
HSA-MIR-3659	99.70	67.97	694
HSA-MIR-4424	98.91	70.33	1145
HSA-MIR-624-3P	98.37	67.06	1067
HSA-MIR-124-5P	98.11	67.65	1095
HSA-MIR-3157-5P	97.41	67.61	998

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	C25H11orf96	ENSDARG00000097208
mus_musculus	Gm13889	ENSMUSG00000087006
rattus_norvegicus	C3h11orf96	ENSRNOG00000055564

Protein

Protein identifiers

Uncharacterized protein C11orf96 — Q7Z7L8 (reviewed: Q7Z7L8)

Alternative names: Protein Ag2 homolog

All UniProt accessions (2): Q7Z7L8, A0A087WW59

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm.

RefSeq proteins (1): NP_001138505* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031521	DUF4695	Family

Pfam: PF15766

UniProt features (9 total): modified residue 6, chain 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z7L8-F1	71.21	0.16

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (6): 55, 72, 86, 96, 112, 118

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 119 (showing top): KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_10D_UP, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, HANSON_HRAS_SIGNALING_VIA_NFKB, CHANG_IMMORTALIZED_BY_HPV31_UP, ZHAN_MULTIPLE_MYELOMA_CD1_AND_CD2_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_UP, HORIUCHI_WTAP_TARGETS_UP, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_UP, CHICAS_RB1_TARGETS_SENESCENT, E2F3_UP.V1_UP, SNIP1_TARGET_GENES, ZNF391_TARGET_GENES, MIR1468_3P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

184 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C11orf96	SEC14L6	B5MCN3	513
C11orf96	L1TD1	Q5T7N2	471
C11orf96	PTP4A3	O75365	435
C11orf96	ELAPOR1	Q6UXG2	391
C11orf96	ZNF253	O75346	379
C11orf96	CLYBL	Q8N0X4	358
C11orf96	RBM12B	Q8IXT5	348
C11orf96	TMEM106C	Q9BVX2	348
C11orf96	ALDH8A1	Q9H2A2	341
C11orf96	TMEM117	Q9H0C3	323
C11orf96	TM4SF19	Q96DZ7	308
C11orf96	ZNF12	P17014	306
C11orf96	OXCT2	Q9BYC2	305
C11orf96	SLC9D1	Q6UWJ1	305
C11orf96	GNG4	P50150	295

IntAct

0 interactions, top by confidence:

BioGRID (2): C11orf96 (Affinity Capture-RNA), C11orf96 (Affinity Capture-RNA)

ESM2 similar proteins: A6H6W9, A7YY62, C0HME0, G3MWR8, O14639, O43741, P01134, P01135, P51692, P97875, Q06922, Q12800, Q2KI04, Q2NL67, Q2PG42, Q3SXP7, Q3U2I3, Q5R8V2, Q5RBB8, Q5RCB7, Q5RE12, Q5SQY2, Q5XIA2, Q5ZJB7, Q5ZJV7, Q6AYJ2, Q6NXN1, Q6P6P7, Q6PAM0, Q78E65, Q7RTP6, Q7T2U9, Q7Z422, Q7Z6J6, Q7Z7L8, Q8BR65, Q8C8M1, Q8CJ19, Q8K4G5, Q8N612

Diamond homologs: A8IHN8, C0HME0, Q3UPL5, Q7Z7L8

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

165 predictions. Top by Δscore:

Variant	Effect	Δscore
11:43943265:GCCCT:G	donor_gain	0.9300
11:43943270:G:GG	donor_gain	0.9100
11:43943097:G:GT	donor_gain	0.8800
11:43943234:G:GT	donor_gain	0.8700
11:43943235:A:T	donor_gain	0.8400
11:43943526:A:AG	acceptor_gain	0.7900
11:43943527:G:GG	acceptor_gain	0.7900
11:43943527:GTGC:G	acceptor_gain	0.6600
11:43943276:G:T	donor_gain	0.6500
11:43943527:GT:G	acceptor_gain	0.6500
11:43943102:G:GA	donor_gain	0.6200
11:43943464:G:GT	donor_gain	0.5600
11:43943101:TG:T	donor_gain	0.5500
11:43943266:CCCT:C	donor_gain	0.5400
11:43943144:G:GT	donor_gain	0.5300
11:43943268:CT:C	donor_gain	0.5300
11:43943269:TG:T	donor_loss	0.4800
11:43943270:G:GA	donor_loss	0.4800
11:43943271:T:A	donor_loss	0.4800
11:43943272:A:C	donor_loss	0.4700
11:43943267:CCT:C	donor_gain	0.4600
11:43943473:G:GT	donor_gain	0.4600
11:43943526:AGTGC:A	acceptor_gain	0.4600
11:43943527:GTGCG:G	acceptor_gain	0.4600
11:43943786:C:CA	acceptor_gain	0.4400
11:43943269:T:TG	donor_gain	0.4300
11:43943274:G:GT	donor_gain	0.4300
11:43943522:TCCCA:T	acceptor_loss	0.4300
11:43943523:CCCA:C	acceptor_loss	0.4300
11:43943524:CCAG:C	acceptor_loss	0.4300

AlphaMissense

790 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:43943082:T:C	F373L	0.999
11:43943084:C:A	F373L	0.999
11:43943084:C:G	F373L	0.999
11:43943092:T:C	I376T	0.999
11:43943151:T:C	F396L	0.999
11:43943152:T:C	F396S	0.999
11:43943153:C:A	F396L	0.999
11:43943153:C:G	F396L	0.999
11:43943061:T:C	F366L	0.998
11:43943063:C:A	F366L	0.998
11:43943063:C:G	F366L	0.998
11:43943092:T:G	I376S	0.998
11:43943155:T:C	L397P	0.998
11:43943160:A:C	S399R	0.998
11:43943162:C:A	S399R	0.998
11:43943162:C:G	S399R	0.998
11:43943066:G:C	K367N	0.997
11:43943066:G:T	K367N	0.997
11:43943083:T:G	F373C	0.997
11:43943092:T:A	I376N	0.997
11:43943152:T:G	F396C	0.997
11:43943164:T:C	L400P	0.997
11:43943173:T:C	L403P	0.997
11:43943144:G:C	K393N	0.996
11:43943144:G:T	K393N	0.996
11:43943238:A:C	S425R	0.996
11:43943240:C:A	S425R	0.996
11:43943240:C:G	S425R	0.996
11:43943250:A:C	S429R	0.996
11:43943252:C:A	S429R	0.996

dbSNP variants (sampled 300 via entrez): RS1001008053 (11:43942692 C>A,G,T), RS1001133985 (11:43943297 GCGCGCGTCCGCGGTC>G), RS1001839895 (11:43941390 A>G), RS1002960909 (11:43944044 G>T), RS1003222335 (11:43943814 C>A), RS1005988115 (11:43940808 C>G), RS1006984135 (11:43943299 G>A,C), RS1007036466 (11:43942377 G>C), RS1007251088 (11:43942002 G>A), RS1007304800 (11:43941688 T>C), RS1008037766 (11:43944356 T>G), RS1011020222 (11:43942068 G>A), RS1011280384 (11:43943787 G>C,T), RS1011606779 (11:43944093 T>A,C), RS1011962222 (11:43944288 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

2 associations (top):

Study	Trait	p-value
GCST007096_12	Pulse pressure	1.000000e-09
GCST010988_414	Adult body size	3.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

73 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
Aflatoxin B1	increases expression	3
trichostatin A	affects cotreatment, increases expression	2
mercuric bromide	decreases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
belinostat	increases expression, affects cotreatment	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Cisplatin	affects expression, increases expression	2
Copper	affects binding, decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Silicon Dioxide	increases expression	2
Tobacco Smoke Pollution	increases expression	2
Tretinoin	increases expression	2
Cyclosporine	increases expression, decreases expression	2
Cadmium Chloride	increases expression	2
FR900359	increases phosphorylation	1
urushiol	increases expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
zinc chromate	decreases expression, increases abundance	1
ferrous chloride	increases expression	1
pentanal	increases expression	1
15-acetyldeoxynivalenol	increases expression	1
dinophysistoxin 1	increases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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