C4orf51

Summary

C4orf51 (chromosome 4 open reading frame 51, HGNC:37264) is a protein-coding gene on chromosome 4q31.21, encoding Uncharacterized protein C4orf51 (C9J302).

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 25 total
• MANE Select transcript: NM_001080531

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37264
Approved symbol	C4orf51
Name	chromosome 4 open reading frame 51
Location	4q31.21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000237136
Ensembl biotype	protein_coding
Entrez	646603

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000438731, ENST00000508981, ENST00000510096

RefSeq mRNA: 1 — MANE Select: NM_001080531 NM_001080531

CCDS: CCDS47140

Canonical transcript exons

ENST00000438731 — 6 exons

Exon	Start	End
ENSE00001631271	145696559	145696632
ENSE00001647626	145680146	145680436
ENSE00001664678	145729892	145729965
ENSE00001694752	145729169	145729229
ENSE00001773931	145726911	145726969
ENSE00002025335	145732453	145732797

Expression profiles

Bgee: expression breadth ubiquitous, 107 present calls, max score 91.52.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.52	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.88	gold quality
right testis	UBERON:0004534	80.07	gold quality
left testis	UBERON:0004533	79.03	gold quality
testis	UBERON:0000473	78.51	gold quality
right uterine tube	UBERON:0001302	60.39	gold quality
granulocyte	CL:0000094	58.58	gold quality
fallopian tube	UBERON:0003889	47.24	gold quality
metanephros cortex	UBERON:0010533	46.41	gold quality
adult mammalian kidney	UBERON:0000082	44.49	gold quality
cerebellar hemisphere	UBERON:0002245	43.51	gold quality
kidney	UBERON:0002113	43.43	gold quality
cerebellar cortex	UBERON:0002129	43.40	gold quality
cerebellum	UBERON:0002037	43.07	gold quality
right hemisphere of cerebellum	UBERON:0014890	42.59	gold quality
cortex of kidney	UBERON:0001225	42.56	gold quality
right adrenal gland cortex	UBERON:0035827	42.55	gold quality
left uterine tube	UBERON:0001303	41.89	gold quality
calcaneal tendon	UBERON:0003701	41.78	gold quality
right adrenal gland	UBERON:0001233	41.04	gold quality
corpus callosum	UBERON:0002336	40.95	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	39.33	gold quality
right lung	UBERON:0002167	38.48	gold quality
right coronary artery	UBERON:0001625	38.43	gold quality
apex of heart	UBERON:0002098	37.78	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
lung	UBERON:0002048	36.95	gold quality
right lobe of liver	UBERON:0001114	36.58	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.74

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting C4orf51, 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-3148	99.97	75.06	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-4641	99.28	66.64	744
HSA-MIR-4777-3P	99.15	68.92	626
HSA-MIR-6895-3P	98.79	65.69	996
HSA-MIR-6887-5P	98.56	68.49	1295
HSA-MIR-6795-5P	98.52	68.51	1277
HSA-MIR-6804-5P	98.39	65.77	1084
HSA-MIR-4474-3P	96.97	65.87	870
HSA-MIR-875-5P	96.74	66.48	579
HSA-MIR-382-5P	96.71	65.90	762
HSA-MIR-4433B-5P	95.91	66.56	727

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	1700011L22Rik	ENSMUSG00000031682
rattus_norvegicus	C19h4orf51	ENSRNOG00000011671

Protein

Protein identifiers

Uncharacterized protein C4orf51 — C9J302 (reviewed: C9J302)

All UniProt accessions (1): C9J302

RefSeq proteins (1): NP_001074000* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031708	DUF4722	Family

Pfam: PF15849

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-C9J302-F1	59.86	0.09

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 21 (showing top): GSE13522_CTRL_VS_T_CRUZI_G_STRAIN_INF_SKIN_UP, HES2_TARGET_GENES, SIX1_TARGET_GENES, MIR548AJ_3P_MIR548X_3P, MIR651_3P, MIR548AR_3P, MIR548F_3P, MIR548BC, MIR548AZ_3P, MIR548A_3P, MIR548E_3P, MIR4777_3P, GSE13306_TREG_RA_VS_TCONV_RA_UP, chr4q31, DESCARTES_MAIN_FETAL_ELF3_AGBL2_POSITIVE_CELLS

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

54 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C4orf51	CLPSL1	A2RUU4	578
C4orf51	HHLA1	C9JL84	530
C4orf51	OBP2B	Q9NPH6	478
C4orf51	ABHD12B	Q7Z5M8	475
C4orf51	ERVV-2	B6SEH9	447
C4orf51	CT83	Q5H943	432
C4orf51	ACTL8	Q9H568	432
C4orf51	MAGEB4	O15481	420
C4orf51	ZNF827	Q17R98	398
C4orf51	C6orf15	Q6UXA7	370
C4orf51	NPBWR1	P48145	370
C4orf51	PRDM13	Q9H4Q3	366
C4orf51	MAGEA6	P43360	359
C4orf51	A2ML1	A8K2U0	336
C4orf51	OTUD4	Q01804	324

IntAct

0 interactions, top by confidence:

BioGRID (2): RSL1D1 (Cross-Linking-MS (XL-MS)), C4orf51 (Affinity Capture-RNA)

ESM2 similar proteins: A0A1B0GTD5, A0A1B0GVB3, A0A3Q1MT14, A2RRY8, A4D263, A5LFW8, A5PJD8, A6H6Q4, A6QQL5, A7E2U8, B6KAS6, C9J302, O95561, P0C9Z6, P50615, Q0P4C5, Q148A4, Q1JPL0, Q21733, Q2KIR0, Q2M2T2, Q2T9M0, Q2T9T0, Q32L72, Q32L77, Q3TTI8, Q3U1D9, Q5NC83, Q5SPV6, Q5SVJ3, Q5VTT2, Q5VZQ5, Q5XHC1, Q66HR9, Q6AYM0, Q6ZNM6, Q811V6, Q8CDT5, Q8CDU5, Q8N7U6

Diamond homologs: C9J302, Q4V7B2, Q9DAF8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2269 predictions. Top by Δscore:

Variant	Effect	Δscore
4:145680437:G:GG	donor_gain	1.0000
4:145696556:TA:T	acceptor_loss	1.0000
4:145696557:A:AG	acceptor_gain	1.0000
4:145696557:AG:A	acceptor_gain	1.0000
4:145696557:AGG:A	acceptor_loss	1.0000
4:145696558:G:GC	acceptor_gain	1.0000
4:145696558:GG:G	acceptor_gain	1.0000
4:145696558:GGAT:G	acceptor_gain	1.0000
4:145696629:AAAGG:A	donor_loss	1.0000
4:145696630:AAG:A	donor_gain	1.0000
4:145696630:AAGGT:A	donor_loss	1.0000
4:145696631:AGG:A	donor_loss	1.0000
4:145696632:GGTA:G	donor_loss	1.0000
4:145696633:G:GA	donor_loss	1.0000
4:145696633:G:GG	donor_gain	1.0000
4:145729167:A:AG	acceptor_gain	1.0000
4:145729168:G:GG	acceptor_gain	1.0000
4:145729225:ATACT:A	donor_gain	1.0000
4:145729226:TACT:T	donor_gain	1.0000
4:145729230:G:GG	donor_gain	1.0000
4:145729962:GCAT:G	donor_gain	1.0000
4:145729966:G:GG	donor_gain	1.0000
4:145761596:CAC:C	acceptor_gain	1.0000
4:145761599:C:CC	acceptor_gain	1.0000
4:145761600:T:G	acceptor_loss	1.0000
4:145761603:C:CT	acceptor_gain	1.0000
4:145761604:G:T	acceptor_gain	1.0000
4:145764973:A:AC	donor_gain	1.0000
4:145764974:C:CC	donor_gain	1.0000
4:145764974:CTTG:C	donor_gain	1.0000

AlphaMissense

1309 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:145680270:T:C	F23L	0.974
4:145680272:T:A	F23L	0.974
4:145680272:T:G	F23L	0.974
4:145680246:T:C	F15L	0.971
4:145680248:T:A	F15L	0.971
4:145680248:T:G	F15L	0.971
4:145680305:G:C	W34C	0.955
4:145680305:G:T	W34C	0.955
4:145680291:G:C	A30P	0.940
4:145680303:T:A	W34R	0.940
4:145680303:T:C	W34R	0.940
4:145680323:G:C	W40C	0.922
4:145680323:G:T	W40C	0.922
4:145680280:T:C	I26T	0.919
4:145680292:C:A	A30D	0.914
4:145680321:T:A	W40R	0.914
4:145680321:T:C	W40R	0.914
4:145680256:T:A	L18H	0.911
4:145680280:T:G	I26S	0.908
4:145680284:A:C	R27S	0.901
4:145680284:A:T	R27S	0.901
4:145680271:T:G	F23C	0.894
4:145680247:T:C	F15S	0.891
4:145680280:T:A	I26N	0.891
4:145680241:T:C	L13P	0.879
4:145680256:T:C	L18P	0.878
4:145680304:G:C	W34S	0.876
4:145680223:T:C	L7S	0.871
4:145729172:C:G	H124D	0.871
4:145680271:T:C	F23S	0.869

dbSNP variants (sampled 300 via entrez): RS1000000468 (4:145684550 G>C), RS1000044127 (4:145733285 GGCCGCCTCC>G), RS1000052122 (4:145694833 G>C), RS1000081356 (4:145788223 T>C), RS1000093514 (4:145684873 G>A), RS1000101650 (4:145727611 C>T), RS1000127175 (4:145706510 G>A), RS1000134768 (4:145770343 T>A), RS1000167588 (4:145698778 A>T), RS1000178899 (4:145752316 G>C,T), RS10002016 (4:145701965 C>A,T), RS10002334 (4:145702282 C>A,T), RS1000254751 (4:145784674 T>G), RS1000267740 (4:145690366 A>G,T), RS1000330460 (4:145702814 C>A,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

5 associations (top):

Study	Trait	p-value
GCST003469_6	Response to cognitive-behavioural therapy in anxiety disorder	5.000000e-06
GCST010725_4	Malaria	4.000000e-10
GCST010725_84	Malaria	7.000000e-11
GCST010725_89	Malaria	7.000000e-11
GCST90002405_46	Reticulocyte count	3.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007820	cognitive behavioural therapy
EFO:0007986	reticulocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	1
Endosulfan	decreases expression	1
Rifampin	decreases expression	1

Clinical trials (associated diseases)

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