C5orf63

Summary

C5orf63 (chromosome 5 open reading frame 63, HGNC:40051) is a protein-coding gene on chromosome 5q23.2, encoding Glutaredoxin-like protein C5orf63 (A6NC05).

Located in mitochondrion.

Source: NCBI Gene 401207 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 9 total — 1 pathogenic
• MANE Select transcript: NM_001164478

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:40051
Approved symbol	C5orf63
Name	chromosome 5 open reading frame 63
Location	5q23.2
Locus type	gene with protein product
Status	Approved
Aliases	YDR286C, FLJ44606
Ensembl gene	ENSG00000164241
Ensembl biotype	protein_coding
Entrez	401207

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000296662, ENST00000508527, ENST00000509733, ENST00000515558, ENST00000535381, ENST00000606042, ENST00000606937, ENST00000607731, ENST00000682830

RefSeq mRNA: 4 — MANE Select: NM_001164478 NM_001164478, NM_001164479, NM_001388304, NM_001388305

CCDS: CCDS54895, CCDS54896, CCDS93775, CCDS93776

Canonical transcript exons

ENST00000296662 — 5 exons

Exon	Start	End
ENSE00001082686	127051304	127051947
ENSE00003665763	127052613	127052669
ENSE00003701240	127071584	127071685
ENSE00003701552	127058882	127059002
ENSE00003916544	127073451	127073502

Expression profiles

Bgee: expression breadth ubiquitous, 232 present calls, max score 92.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.5584 / max 37.9016, expressed in 1116 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
63213	2.5584	1116

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	92.55	gold quality
buccal mucosa cell	CL:0002336	89.23	gold quality
left ventricle myocardium	UBERON:0006566	88.59	silver quality
cardiac muscle of right atrium	UBERON:0003379	88.10	silver quality
mucosa of transverse colon	UBERON:0004991	86.19	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.76	gold quality
right testis	UBERON:0004534	85.57	gold quality
left testis	UBERON:0004533	85.52	gold quality
nasal cavity epithelium	UBERON:0005384	85.30	silver quality
rectum	UBERON:0001052	85.19	gold quality
lower esophagus mucosa	UBERON:0035834	85.00	gold quality
testis	UBERON:0000473	83.84	gold quality
tendon	UBERON:0000043	82.59	gold quality
myocardium	UBERON:0002349	82.42	silver quality
apex of heart	UBERON:0002098	81.91	gold quality
heart left ventricle	UBERON:0002084	81.17	gold quality
adenohypophysis	UBERON:0002196	80.99	gold quality
cardiac ventricle	UBERON:0002082	80.97	gold quality
pituitary gland	UBERON:0000007	80.93	gold quality
heart right ventricle	UBERON:0002080	80.79	silver quality
islet of Langerhans	UBERON:0000006	80.62	gold quality
right uterine tube	UBERON:0001302	80.58	gold quality
body of pancreas	UBERON:0001150	80.42	gold quality
right lobe of thyroid gland	UBERON:0001119	80.41	gold quality
hindlimb stylopod muscle	UBERON:0004252	80.41	gold quality
cortical plate	UBERON:0005343	80.18	gold quality
transverse colon	UBERON:0001157	80.00	gold quality
left lobe of thyroid gland	UBERON:0001120	79.89	gold quality
thyroid gland	UBERON:0002046	79.58	gold quality
pancreas	UBERON:0001264	79.41	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting C5orf63, 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-6077	99.99	68.04	2299
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-363-5P	99.46	64.51	1015
HSA-MIR-593-5P	99.34	69.50	965
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-505-3P	99.19	69.71	896
HSA-MIR-4504	99.10	69.14	1328
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-1470	98.11	63.53	399
HSA-MIR-4469	97.93	65.81	1319
HSA-MIR-337-3P	97.90	69.37	1052
HSA-MIR-10526-3P	97.86	64.97	1342
HSA-MIR-1972	97.67	67.38	1172
HSA-MIR-4790-5P	96.67	67.45	167

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	C10H5orf63	ENSDARG00000095594
mus_musculus	C330018D20Rik	ENSMUSG00000024592
rattus_norvegicus	C18h5orf63	ENSRNOG00000013738

Protein

Protein identifiers

Glutaredoxin-like protein C5orf63 — A6NC05 (reviewed: A6NC05)

All UniProt accessions (6): A0A8C8V477, A6NC05, U3KPR6, U3KQ05, U3KQB8, U3KQR4

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the glutaredoxin family. YDR286C subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
A6NC05-1	1	yes
A6NC05-2	2

RefSeq proteins (4): NP_001157950, NP_001157951, NP_001375233, NP_001375234 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008554	Glutaredoxin-like	Family
IPR036249	Thioredoxin-like_sf	Homologous_superfamily
IPR052565	Glutaredoxin-like_YDR286C	Family

Pfam: PF05768

UniProt features (5 total): chain 1, region of interest 1, compositionally biased region 1, disulfide bond 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NC05-F1	45.45	0.00

Functional residue map

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

Disulfide bonds (1): 41–44

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 52 (showing top): IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, DODD_NASOPHARYNGEAL_CARCINOMA_DN, BRUINS_UVC_RESPONSE_EARLY_LATE, BAKKER_FOXO3_TARGETS_UP, RATTENBACHER_BOUND_BY_CELF1, HMG20B_TARGET_GENES, NFKBIA_TARGET_GENES, MIR153_5P, MIR627_3P, MIR655_3P, MIR374C_5P, MIR33A_3P, MIR141_3P, MIR200A_3P, MIR3910

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

290 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C5orf63	MARCHF3	Q86UD3	570
C5orf63	MINAR2	P59773	542
C5orf63	VOPP1	Q96AW1	478
C5orf63	DENND5B	Q6ZUT9	454
C5orf63	C8orf82	Q6P1X6	450
C5orf63	OR5H14	A6NHG9	448
C5orf63	C15orf40	Q8WUR7	447
C5orf63	SPMIP10	Q6ZNM6	445
C5orf63	OXLD1	Q5BKU9	434
C5orf63	PDIA6	Q15084	410
C5orf63	ZNF615	Q8N8J6	377
C5orf63	C2orf69	Q8N8R5	370
C5orf63	SPATA12	Q7Z6I5	370
C5orf63	DGLUCY	Q7Z3D6	370
C5orf63	DHRS4L2	Q6PKH6	349

IntAct

2 interactions, top by confidence:

A	B	Type	Score
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350

BioGRID (2): C5orf63 (Synthetic Lethality), C5orf63 (Affinity Capture-MS)

ESM2 similar proteins: A4D2B8, A6NC05, D4AS55, O06472, O13578, O28790, O36396, O74917, O91531, P03080, P03168, P08863, P09003, P09004, P0C0P8, P0DM64, P0DON5, P0DON6, P10544, P12913, P12937, P24852, P36322, P43151, P47092, Q13670, Q2M2E5, Q4R1S1, Q5MFW3, Q5NE16, Q5T3Y7, Q64902, Q66H70, Q66HF0, Q69UP7, Q6B9Z0, Q6DN03, Q75G87, Q7L4S7, Q84X12

Diamond homologs: A6NC05, Q9CWB7, Q05530, Q54N68

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	2
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	Pathogenic

SpliceAI

1180 predictions. Top by Δscore:

Variant	Effect	Δscore
5:127068986:A:AC	donor_gain	1.0000
5:127068987:C:CC	donor_gain	1.0000
5:127052611:AC:A	donor_gain	0.9900
5:127052612:CC:C	donor_gain	0.9900
5:127052638:T:TA	donor_gain	0.9900
5:127068991:G:C	donor_gain	0.9900
5:127071579:CATA:C	donor_loss	0.9900
5:127071582:ACC:A	donor_loss	0.9900
5:127071681:CAGTC:C	acceptor_gain	0.9900
5:127071687:T:C	acceptor_gain	0.9900
5:127071698:A:T	acceptor_gain	0.9900
5:127072102:C:CT	acceptor_gain	0.9900
5:127052608:ATTAC:A	donor_gain	0.9800
5:127071684:TCCT:T	acceptor_loss	0.9800
5:127071685:CCTT:C	acceptor_loss	0.9800
5:127071686:C:CC	acceptor_gain	0.9800
5:127071687:T:TC	acceptor_gain	0.9800
5:127072097:C:CT	acceptor_gain	0.9800
5:127072103:A:T	acceptor_gain	0.9800
5:127062152:C:T	acceptor_gain	0.9700
5:127068987:CT:C	donor_gain	0.9700
5:127072090:CTG:C	acceptor_gain	0.9700
5:127073446:CCCA:C	donor_loss	0.9700
5:127073448:CAC:C	donor_loss	0.9700
5:127073450:C:CT	donor_loss	0.9700
5:127071685:CCT:C	acceptor_gain	0.9600
5:127071691:A:AC	acceptor_gain	0.9600
5:127052667:GTCC:G	acceptor_loss	0.9500
5:127052668:TCCTA:T	acceptor_loss	0.9500
5:127052669:CCTAC:C	acceptor_loss	0.9500

AlphaMissense

758 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:127058888:G:C	F36L	0.987
5:127058888:G:T	F36L	0.987
5:127058890:A:G	F36L	0.987
5:127058898:A:G	L33S	0.979
5:127058889:A:G	F36S	0.961
5:127052663:A:G	C41R	0.955
5:127058892:A:G	L35S	0.955
5:127052661:G:C	C41W	0.949
5:127058889:A:C	F36C	0.945
5:127052653:C:G	C44S	0.944
5:127052653:C:T	C44Y	0.944
5:127052654:A:T	C44S	0.944
5:127052645:C:G	A47P	0.939
5:127052654:A:G	C44R	0.939
5:127052652:A:C	C44W	0.936
5:127058904:G:T	P31H	0.935
5:127052632:A:G	L51P	0.930
5:127052662:C:T	C41Y	0.929
5:127052632:A:T	L51H	0.928
5:127052662:C:G	C41S	0.928
5:127052663:A:T	C41S	0.928
5:127058898:A:C	L33W	0.925
5:127052644:G:T	A47D	0.918
5:127058905:G:A	P31S	0.918
5:127058890:A:T	F36I	0.917
5:127058905:G:T	P31T	0.905
5:127052640:C:A	K48N	0.904
5:127052640:C:G	K48N	0.904
5:127058904:G:A	P31L	0.904
5:127052653:C:A	C44F	0.903

dbSNP variants (sampled 300 via entrez): RS1000032357 (5:127069240 T>A), RS1000032902 (5:127065422 G>A), RS1000088402 (5:127072639 T>C), RS1000178416 (5:127058552 C>A), RS1000244463 (5:127065838 T>C), RS1000250572 (5:127058215 T>C,G), RS1000377016 (5:127052695 G>A,T), RS1000411575 (5:127052380 A>C), RS1000626730 (5:127067526 T>C), RS1000721297 (5:127053768 C>A), RS1000825334 (5:127047580 G>A), RS1000898973 (5:127047252 A>G), RS1000988933 (5:127051897 A>C,G), RS1001121930 (5:127069857 A>G), RS1001236699 (5:127070166 C>A)

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
GCST008534_1	Hearing loss in Charcot-Marie-Tooth disease 1A	2.000000e-07
GCST011377_4	Shoulder impingement or rotator cuff tear	3.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	4
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	decreases expression	1
mono-benzyl phthalate	increases abundance, increases methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Vehicle Emissions	increases methylation	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Lead	decreases expression	1
Phthalic Acids	increases abundance, increases methylation	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	decreases methylation	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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