C11orf71

Summary

C11orf71 (chromosome 11 open reading frame 71, HGNC:25937) is a protein-coding gene on chromosome 11q23.2, encoding Uncharacterized protein C11orf71 (Q6IPW1).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 3 total — 1 pathogenic
• MANE Select transcript: NM_001271562

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25937
Approved symbol	C11orf71
Name	chromosome 11 open reading frame 71
Location	11q23.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20010
Ensembl gene	ENSG00000180425
Ensembl biotype	protein_coding
Entrez	54494

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000325636, ENST00000623205

RefSeq mRNA: 2 — MANE Select: NM_001271562 NM_001271562, NM_019021

CCDS: CCDS76479, CCDS8369

Canonical transcript exons

ENST00000623205 — 1 exons

Exon	Start	End
ENSE00003757145	114398532	114400511

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 98.18.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.1891 / max 313.5041, expressed in 1782 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
122365	11.4338	1763
122364	0.3926	200
122367	0.1873	66
122368	0.1247	27
122366	0.0507	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	98.18	gold quality
left testis	UBERON:0004533	97.43	gold quality
right testis	UBERON:0004534	97.19	gold quality
testis	UBERON:0000473	95.05	gold quality
male germ cell	CL:0000015	93.98	gold quality
adult organism	UBERON:0007023	92.98	gold quality
endothelial cell	CL:0000115	91.06	gold quality
corpus epididymis	UBERON:0004359	90.24	gold quality
right lobe of liver	UBERON:0001114	87.04	gold quality
nephron tubule	UBERON:0001231	85.95	gold quality
secondary oocyte	CL:0000655	85.20	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.39	gold quality
hindlimb stylopod muscle	UBERON:0004252	84.39	gold quality
right uterine tube	UBERON:0001302	84.20	gold quality
calcaneal tendon	UBERON:0003701	83.62	gold quality
liver	UBERON:0002107	83.44	gold quality
adenohypophysis	UBERON:0002196	83.43	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	83.26	gold quality
caput epididymis	UBERON:0004358	82.98	gold quality
nucleus accumbens	UBERON:0001882	82.95	gold quality
muscle of leg	UBERON:0001383	82.84	gold quality
islet of Langerhans	UBERON:0000006	82.76	gold quality
biceps brachii	UBERON:0001507	82.71	gold quality
left adrenal gland cortex	UBERON:0035825	82.71	gold quality
right adrenal gland	UBERON:0001233	82.65	gold quality
pituitary gland	UBERON:0000007	82.59	gold quality
cortical plate	UBERON:0005343	82.53	gold quality
left adrenal gland	UBERON:0001234	82.48	gold quality
gastrocnemius	UBERON:0001388	82.36	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	82.33	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	32.54
E-ANND-3	yes	4.83

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting C11orf71, 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-5692A	100.00	74.40	6850
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-200A-5P	99.76	69.10	949
HSA-MIR-200B-5P	99.76	69.05	948
HSA-MIR-5700	99.64	69.88	2280
HSA-MIR-6083	99.47	68.73	2393
HSA-MIR-5694	97.06	67.70	682

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm5617	ENSMUSG00000042293
rattus_norvegicus	C8h11orf71	ENSRNOG00000005918

Protein

Protein identifiers

Uncharacterized protein C11orf71 — Q6IPW1 (reviewed: Q6IPW1)

All UniProt accessions (2): Q6IPW1, A0A0A8K8C2

Isoforms (2)

UniProt ID	Names	Canonical?
Q6IPW1-1	1	yes
Q6IPW1-2	2

RefSeq proteins (2): NP_001258491, NP_061894 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031487	DUF4687	Family

Pfam: PF15747

UniProt features (7 total): region of interest 2, compositionally biased region 2, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6IPW1-F1	63.75	0.08

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 96 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, TGCGCANK_UNKNOWN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, HIF1_Q3, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, DODD_NASOPHARYNGEAL_CARCINOMA_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_DN, LIM_MAMMARY_STEM_CELL_DN, AKT_UP_MTOR_DN.V1_DN, AKT_UP.V1_DN, CAMP_UP.V1_UP, RB_P130_DN.V1_UP, BARX1_TARGET_GENES, DMRT1_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

280 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C11orf71	RWDD2A	Q9UIY3	557
C11orf71	ZBTB47	Q9UFB7	533
C11orf71	KIAA1755	Q5JYT7	496
C11orf71	RNF103	O00237	453
C11orf71	CCDC54	Q8NEL0	448
C11orf71	PRDM11	Q9NQV5	446
C11orf71	NXPE1	Q8N323	434
C11orf71	TSACC	Q96A04	434
C11orf71	C22orf23	Q9BZE7	432
C11orf71	FSCB	Q5H9T9	418
C11orf71	LIMS3	P0CW19	417
C11orf71	HIVEP2	P31629	405
C11orf71	CXorf38	Q8TB03	404
C11orf71	RIMBP3C	A6NJZ7	400
C11orf71	CATSPERT	Q53TS8	398
C11orf71	NXPE2	Q96DL1	398

IntAct

6 interactions, top by confidence:

A	B	Type	Score
C11orf71	TPPP2	psi-mi:“MI:0915”(physical association)	0.400
C11orf71	DKKL1	psi-mi:“MI:0915”(physical association)	0.370
GPRC5B	C11orf71	psi-mi:“MI:0915”(physical association)	0.370
C11orf71	MNAT1	psi-mi:“MI:0914”(association)	0.350
prfB	C11orf71	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (8): TPPP2 (Affinity Capture-MS), NACC2 (Affinity Capture-MS), USP34 (Affinity Capture-MS), MNAT1 (Affinity Capture-MS), C11orf71 (Affinity Capture-RNA), APP (Reconstituted Complex), DKKL1 (Two-hybrid), GPRC5B (Two-hybrid)

ESM2 similar proteins: A0A1B0GUV1, A0A1B0GVM6, A0A3B3IS91, A0A455ZAR2, A0A6I8MX38, A0A6I8PU40, A5CVC4, C0HLZ6, D3DTV9, I3L0S3, L7N648, O70738, O83165, O90299, P03289, P11300, P12064, P16807, P16814, P16838, P25133, P28964, P29164, P69616, P69617, P89476, Q04221, Q04612, Q2J4A0, Q5JLA7, Q5R4B0, Q64364, Q6IPW1, Q6ZSA8, Q81870, Q86625, Q8N1X5, Q8N726, Q8N7S6, Q8N9T2

Diamond homologs: Q32L37, Q6IPW1, Q91VN2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	Pathogenic

SpliceAI

360 predictions. Top by Δscore:

Variant	Effect	Δscore
11:114399990:T:TA	donor_gain	0.9900
11:114400023:T:TA	donor_gain	0.9900
11:114393040:TTTA:T	donor_gain	0.9800
11:114400103:C:A	donor_gain	0.9800
11:114400365:C:A	donor_gain	0.9800
11:114393041:TTA:T	donor_gain	0.9700
11:114393038:CCTT:C	donor_gain	0.9600
11:114400454:AG:A	donor_gain	0.9600
11:114399889:TGCTA:T	donor_gain	0.9500
11:114400364:T:TA	donor_gain	0.9500
11:114400450:A:C	donor_gain	0.9400
11:114399926:CAAG:C	donor_gain	0.9100
11:114399964:A:C	donor_gain	0.9100
11:114400361:ACGTC:A	donor_gain	0.9000
11:114400362:CGTCC:C	donor_gain	0.9000
11:114391666:C:CC	acceptor_gain	0.8900
11:114399991:C:A	donor_gain	0.8900
11:114393039:CTTT:C	donor_gain	0.8800
11:114399892:TA:T	donor_gain	0.8800
11:114395796:CCACT:C	acceptor_gain	0.8700
11:114400021:CTT:C	donor_gain	0.8700
11:114400356:G:A	donor_gain	0.8700
11:114395410:C:CT	donor_gain	0.8500
11:114399965:C:CC	donor_gain	0.8500
11:114400020:A:AC	donor_gain	0.8500
11:114400021:C:CC	donor_gain	0.8500
11:114400120:C:CT	donor_gain	0.8500
11:114400022:T:C	donor_gain	0.8400
11:114399889:TGC:T	donor_gain	0.8300
11:114400158:T:TA	donor_gain	0.8300

AlphaMissense

762 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:114400065:G:C	F89L	0.854
11:114400065:G:T	F89L	0.854
11:114400067:A:G	F89L	0.854
11:114400216:T:A	D39V	0.808
11:114400003:A:G	L110S	0.778
11:114399992:C:G	G114R	0.770
11:114399992:C:T	G114R	0.770
11:114400219:C:A	G38V	0.765
11:114400217:C:G	D39H	0.756
11:114400209:G:C	F41L	0.736
11:114400209:G:T	F41L	0.736
11:114400211:A:G	F41L	0.736
11:114399991:C:T	G114E	0.734
11:114400058:A:C	Y92D	0.733
11:114400297:T:A	D12V	0.730
11:114400298:C:G	D12H	0.716
11:114400215:G:C	D39E	0.703
11:114400215:G:T	D39E	0.703
11:114400007:G:T	R109S	0.689
11:114400231:G:T	A34E	0.689
11:114400297:T:G	D12A	0.689
11:114399964:A:T	V123D	0.686
11:114400216:T:G	D39A	0.686
11:114400219:C:T	G38E	0.677
11:114399970:A:G	I121T	0.667
11:114400225:A:T	V36D	0.659
11:114400296:A:C	D12E	0.648
11:114400296:A:T	D12E	0.648
11:114400008:C:A	Q108H	0.637
11:114400008:C:G	Q108H	0.637

dbSNP variants (sampled 300 via entrez): RS1000122162 (11:114400453 G>A,C), RS1000142686 (11:114399283 G>A), RS1000369583 (11:114392892 C>T), RS1000794307 (11:114401256 G>A), RS1001064391 (11:114393629 T>C), RS1001143431 (11:114400507 A>G), RS1001461347 (11:114393097 T>A,C), RS1001496539 (11:114392712 A>G,T), RS1001877153 (11:114393191 G>A,T), RS1002235581 (11:114402458 C>T), RS1002289919 (11:114402185 T>G), RS1002605173 (11:114394917 C>T), RS1003216342 (11:114402218 G>A), RS1003470772 (11:114396799 A>G), RS1003484111 (11:114395540 T>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
GCST001182_6	Asthma	6.000000e-07
GCST005212_3	Asthma	1.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Silicon Dioxide	decreases expression	2
Valproic Acid	decreases methylation, increases expression	2
bisphenol F	affects cotreatment, increases expression	1
sodium arsenite	decreases expression	1
avobenzone	decreases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cisplatin	affects cotreatment, increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Urethane	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	increases methylation	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	decreases expression	1
Acrylamide	decreases expression	1
Particulate Matter	increases abundance, decreases expression	1

Clinical trials (associated diseases)

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