C7orf57

Summary

C7orf57 (chromosome 7 open reading frame 57, HGNC:22247) is a protein-coding gene on chromosome 7p12.3, encoding Uncharacterized protein C7orf57 (Q8NEG2).

At a glance

• Clinical variants (ClinVar): 11 total
• MANE Select transcript: NM_001100159

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22247
Approved symbol	C7orf57
Name	chromosome 7 open reading frame 57
Location	7p12.3
Locus type	gene with protein product
Status	Approved
Aliases	FCAP33
Ensembl gene	ENSG00000164746
Ensembl biotype	protein_coding
Entrez	136288

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron

ENST00000348904, ENST00000420324, ENST00000430738, ENST00000435376, ENST00000461741, ENST00000539619, ENST00000880982

RefSeq mRNA: 3 — MANE Select: NM_001100159 NM_001100159, NM_001267865, NM_001267866

CCDS: CCDS47583, CCDS59054, CCDS75594

Canonical transcript exons

ENST00000348904 — 9 exons

Exon	Start	End
ENSE00001087099	48052700	48052923
ENSE00001087104	48049880	48049977
ENSE00001260715	48036208	48036363
ENSE00001332798	48035543	48035630
ENSE00001791997	48054595	48054606
ENSE00001886623	48060226	48061297
ENSE00003495534	48041334	48041519
ENSE00003545469	48046460	48046616
ENSE00003569949	48043481	48043589

Expression profiles

Bgee: expression breadth ubiquitous, 115 present calls, max score 97.38.

FANTOM5 (CAGE): breadth broad, TPM avg 0.4850 / max 46.5208, expressed in 222 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
78570	0.2438	106
78571	0.2412	120

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	97.38	gold quality
bronchus	UBERON:0002185	95.23	gold quality
mucosa of paranasal sinus	UBERON:0005030	93.21	gold quality
right uterine tube	UBERON:0001302	90.70	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	85.45	gold quality
oviduct epithelium	UBERON:0004804	85.28	gold quality
epithelium of nasopharynx	UBERON:0001951	83.33	gold quality
fallopian tube	UBERON:0003889	76.34	gold quality
caput epididymis	UBERON:0004358	71.92	gold quality
nasal cavity mucosa	UBERON:0001826	70.25	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	69.73	gold quality
nasal cavity epithelium	UBERON:0005384	65.61	silver quality
right lung	UBERON:0002167	63.85	gold quality
ventricular zone	UBERON:0003053	62.26	gold quality
lower esophagus mucosa	UBERON:0035834	61.49	gold quality
adult organism	UBERON:0007023	59.20	silver quality
left testis	UBERON:0004533	58.93	gold quality
testis	UBERON:0000473	58.82	gold quality
right testis	UBERON:0004534	58.56	gold quality
esophagus mucosa	UBERON:0002469	58.16	gold quality
lower lobe of lung	UBERON:0008949	57.61	silver quality
caudate nucleus	UBERON:0001873	56.95	gold quality
endometrium	UBERON:0001295	55.89	gold quality
hypothalamus	UBERON:0001898	55.66	gold quality
left uterine tube	UBERON:0001303	54.77	gold quality
nucleus accumbens	UBERON:0001882	54.73	gold quality
trachea	UBERON:0003126	54.27	silver quality
lung	UBERON:0002048	53.71	gold quality
corpus callosum	UBERON:0002336	52.17	gold quality
oral cavity	UBERON:0000167	51.64	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-9388	yes	7.42
E-ANND-3	yes	6.49

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

72 targeting C7orf57, 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-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-340-5P	100.00	72.50	4437
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-6739-5P	99.80	67.87	2806

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-276j7.1	ENSDARG00000090872
mus_musculus	Gm11992	ENSMUSG00000040978
rattus_norvegicus	C14h7orf57	ENSRNOG00000037632

Protein

Protein identifiers

Uncharacterized protein C7orf57 — Q8NEG2 (reviewed: Q8NEG2)

All UniProt accessions (4): C9JQZ6, Q8NEG2, F5H7J8, J3KQX6

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NEG2-1	1	yes
Q8NEG2-2	2

RefSeq proteins (3): NP_001093629, NP_001254794, NP_001254795 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040247	DUF5524	Family

Pfam: PF17662

UniProt features (15 total): compositionally biased region 4, splice variant 3, sequence conflict 3, region of interest 2, chain 1, sequence variant 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NEG2-F1	64.31	0.04

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 (1): 50

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 51 (showing top): PEREZ_TP63_TARGETS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, PEREZ_TP53_AND_TP63_TARGETS, chr7p12, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GSE13522_CTRL_VS_T_CRUZI_G_STRAIN_INF_SKIN_UP, GREB1_TARGET_GENES, HSD17B8_TARGET_GENES, MIR4795_3P, MIR340_5P, LET_7A_3P, MIR98_3P, LET_7F_1_3P, LET_7B_3P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

530 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C7orf57	C10orf120	Q5SQS8	571
C7orf57	SUN3	Q8TAQ9	570
C7orf57	FAM221B	A6H8Z2	527
C7orf57	SPMIP4	Q8N865	506
C7orf57	C10orf53	Q8N6V4	506
C7orf57	CFAP45	Q9UL16	476
C7orf57	RPP25L	Q8N5L8	472
C7orf57	FAM222A	Q5U5X8	460
C7orf57	SAXO4	Q7Z5V6	456
C7orf57	PLEKHH1	Q9ULM0	449
C7orf57	TMEM72	A0PK05	446
C7orf57	BBOF1	Q8ND07	434
C7orf57	PRR15	Q8IV56	433
C7orf57	RASSF9	O75901	396
C7orf57	PLBD1	Q6P4A8	379

IntAct

0 interactions, top by confidence:

BioGRID (9): C7orf57 (Two-hybrid), C7orf57 (Two-hybrid), C7orf57 (Two-hybrid), C7orf57 (Two-hybrid), C7orf57 (Two-hybrid), MCRS1 (Two-hybrid), NDOR1 (Two-hybrid), MYO15B (Two-hybrid), GAS2L2 (Two-hybrid)

ESM2 similar proteins: A0A1B0GTD5, A0A1B0GTJ6, A0A1B0GUX0, A0A3Q1MT14, A0JNL1, A5PJD8, B9EJX3, E1B9R1, E1BNS6, F1MMV1, Q0P591, Q148A4, Q14BB9, Q1JPL0, Q2KJ10, Q2MH31, Q2T9T0, Q2TA11, Q32L72, Q32L77, Q3V0Q6, Q5BN46, Q5PQN4, Q5RBH3, Q5RHU7, Q5SPV6, Q5SVJ3, Q5VTT2, Q5VZQ5, Q66HR9, Q6AYM0, Q7Z5V6, Q8CDU5, Q8N5S3, Q8N865, Q8NA69, Q8NCR6, Q8NEG2, Q95LU0, Q96K30

Diamond homologs: A0JNL1, A0JPQ1, Q5SS90, Q8NEG2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1603 predictions. Top by Δscore:

Variant	Effect	Δscore
7:48041332:AGATT:A	acceptor_gain	1.0000
7:48041333:GATTG:G	acceptor_gain	1.0000
7:48043477:T:TA	acceptor_gain	1.0000
7:48043587:AGA:A	donor_gain	1.0000
7:48043588:GA:G	donor_gain	1.0000
7:48043588:GAG:G	donor_gain	1.0000
7:48043590:G:GG	donor_gain	1.0000
7:48046459:GA:G	acceptor_gain	1.0000
7:48049953:G:GT	donor_gain	1.0000
7:48035627:GCTG:G	donor_gain	0.9900
7:48036364:G:GG	donor_gain	0.9900
7:48041329:TATA:T	acceptor_loss	0.9900
7:48041331:TA:T	acceptor_loss	0.9900
7:48041332:A:AG	acceptor_gain	0.9900
7:48041332:AGAT:A	acceptor_loss	0.9900
7:48041333:G:A	acceptor_loss	0.9900
7:48041333:G:GG	acceptor_gain	0.9900
7:48041333:GATT:G	acceptor_gain	0.9900
7:48043478:GAGAT:G	acceptor_loss	0.9900
7:48043479:A:AG	acceptor_gain	0.9900
7:48043480:G:GG	acceptor_gain	0.9900
7:48043480:GAT:G	acceptor_gain	0.9900
7:48043480:GATTT:G	acceptor_gain	0.9900
7:48043585:CAAGA:C	donor_gain	0.9900
7:48043586:AAGAG:A	donor_loss	0.9900
7:48043587:AGAGT:A	donor_loss	0.9900
7:48043589:AG:A	donor_loss	0.9900
7:48043590:G:A	donor_loss	0.9900
7:48043591:T:G	donor_loss	0.9900
7:48043592:AA:A	donor_loss	0.9900

AlphaMissense

1925 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:48041503:A:C	K75N	0.994
7:48041503:A:T	K75N	0.994
7:48041498:G:C	A74P	0.989
7:48041486:T:C	Y70H	0.987
7:48041502:A:T	K75I	0.986
7:48043487:T:C	L83S	0.986
7:48041400:T:C	I41T	0.982
7:48041487:A:C	Y70S	0.982
7:48041499:C:A	A74E	0.982
7:48041486:T:G	Y70D	0.981
7:48052741:T:C	L216P	0.981
7:48041336:T:A	W20R	0.979
7:48041336:T:C	W20R	0.979
7:48043546:T:A	W103R	0.979
7:48043546:T:C	W103R	0.979
7:48041496:T:C	L73P	0.978
7:48041487:A:G	Y70C	0.977
7:48046551:T:C	F148L	0.977
7:48046553:C:A	F148L	0.977
7:48046553:C:G	F148L	0.977
7:48043484:T:C	L82S	0.975
7:48041486:T:A	Y70N	0.972
7:48041477:G:C	D67H	0.971
7:48041502:A:C	K75T	0.970
7:48052741:T:A	L216H	0.970
7:48052732:T:C	F213S	0.969
7:48041501:A:G	K75E	0.967
7:48041494:G:C	K72N	0.963
7:48041494:G:T	K72N	0.963
7:48046575:T:A	W156R	0.962

dbSNP variants (sampled 300 via entrez): RS1000042671 (7:48059967 A>G), RS1000061909 (7:48033625 A>G), RS1000187558 (7:48035931 A>C), RS1000328380 (7:48059655 G>C,T), RS1000459306 (7:48041180 A>C), RS1000704751 (7:48035721 C>T), RS1000860079 (7:48060738 A>C,T), RS1000921300 (7:48034927 T>A), RS1000982100 (7:48041000 A>T), RS1001084291 (7:48053657 C>T), RS1001306388 (7:48036414 T>C,G), RS1001333444 (7:48060351 G>A,T), RS1001435951 (7:48059318 C>T), RS1001455793 (7:48045448 A>C), RS1001462738 (7:48042768 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)

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression	3
sotorasib	affects cotreatment, decreases expression	1
urushiol	increases expression	1
bisphenol A	increases methylation	1
sodium arsenite	increases expression	1
tobacco tar	decreases reaction, increases expression	1
diallyl disulfide	increases expression, decreases reaction	1
nutlin 3	affects cotreatment, increases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, increases expression	1
NSC 689534	affects binding, increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Zoledronic Acid	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	increases expression, affects cotreatment	1
Copper	affects binding, increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Doxorubicin	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	increases expression, increases abundance	1
Tobacco Smoke Pollution	decreases expression	1
Cadmium Chloride	increases expression	1
Particulate Matter	decreases expression	1

Clinical trials (associated diseases)

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