C20orf203

Summary

C20orf203 (chromosome 20 open reading frame 203, HGNC:26592) is a protein-coding gene on chromosome 20q11.21, encoding Uncharacterized protein C20orf203 (Q8NBC4).

The protein encoded by this gene is thought to be a human-specific protein. Currently available evidence suggests that orthologous regions in other organisms contain sequence differences that would not support production of a protein product. Genome-wide association studies have suggested the possibility that a SNP in the 3’ UTR, rs17123507, could be associated with nicotine addiction. Expression of this gene may be elevated in some individuals with Alzheimer’s disease.

Source: NCBI Gene 284805 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 8 total
• MANE Select transcript: NM_182584

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26592
Approved symbol	C20orf203
Name	chromosome 20 open reading frame 203
Location	20q11.21
Locus type	gene with protein product
Status	Approved
Aliases	FLJ33706
Ensembl gene	ENSG00000198547
Ensembl biotype	protein_coding
Entrez	284805

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000360785, ENST00000608990

RefSeq mRNA: 1 — MANE Select: NM_182584 NM_182584

CCDS: CCDS13203

Canonical transcript exons

ENST00000608990 — 6 exons

Exon	Start	End
ENSE00001543359	32640566	32640687
ENSE00001543364	32651733	32651981
ENSE00003704007	32673632	32673941
ENSE00003709574	32649255	32650881
ENSE00003709615	32631625	32634270
ENSE00003729910	32651018	32651166

Expression profiles

Bgee: expression breadth ubiquitous, 102 present calls, max score 76.43.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.43	gold quality
cerebellar hemisphere	UBERON:0002245	60.66	gold quality
cerebellar cortex	UBERON:0002129	60.50	gold quality
cerebellum	UBERON:0002037	60.34	gold quality
right hemisphere of cerebellum	UBERON:0014890	59.80	gold quality
sural nerve	UBERON:0015488	58.89	silver quality
cortical plate	UBERON:0005343	58.60	gold quality
primary visual cortex	UBERON:0002436	56.75	gold quality
ventricular zone	UBERON:0003053	56.37	gold quality
right frontal lobe	UBERON:0002810	55.97	gold quality
putamen	UBERON:0001874	55.76	gold quality
nucleus accumbens	UBERON:0001882	55.23	gold quality
caudate nucleus	UBERON:0001873	54.90	gold quality
Brodmann (1909) area 9	UBERON:0013540	54.09	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	53.79	gold quality
frontal cortex	UBERON:0001870	53.77	gold quality
brain	UBERON:0000955	53.24	gold quality
anterior cingulate cortex	UBERON:0009835	53.24	gold quality
hypothalamus	UBERON:0001898	53.07	gold quality
cerebral cortex	UBERON:0000956	52.91	gold quality
prefrontal cortex	UBERON:0000451	52.53	gold quality
ganglionic eminence	UBERON:0004023	52.13	silver quality
superior frontal gyrus	UBERON:0002661	52.10	gold quality
uterine cervix	UBERON:0000002	51.74	gold quality
left ovary	UBERON:0002119	51.51	gold quality
ovary	UBERON:0000992	51.07	gold quality
temporal lobe	UBERON:0001871	50.66	gold quality
amygdala	UBERON:0001876	50.62	gold quality
bone marrow cell	CL:0002092	50.58	gold quality
lymph node	UBERON:0000029	50.40	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.80

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

112 targeting C20orf203, 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-340-5P	100.00	72.50	4437
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-7-5P	99.67	70.53	1809

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Uncharacterized protein C20orf203 — Q8NBC4 (reviewed: Q8NBC4)

All UniProt accessions (1): Q8NBC4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm.

Tissue specificity. Expressed most abundantly in the brain at protein level. Present in cortex, cerebellum and midbrain. Found in neurons. Elevated expressions detected in Alzheimer brain samples. Also expressed in testis.

Miscellaneous. Originated from non-coding DNA sequences (insertion of repeat elements especially Alu). Seems to exist only in human.

RefSeq proteins (1): NP_872390* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040965	DUF5559	Family

Pfam: PF17714

UniProt features (3 total): chain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NBC4-F1	53.81	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 25 (showing top): chr20q11, PEDRIOLI_MIR31_TARGETS_UP, IRF5_TARGET_GENES, MIR570_3P, MIR340_5P, MIR4447, MIR1343_5P, MIR939_5P, MIR514A_3P_MIR514B_3P, MIR6823_3P, MIR9903, MIR2114_3P, GSE13485_CTRL_VS_DAY21_YF17D_VACCINE_PBMC_DN, LIU_TARGETS_OF_VMYB_VS_CMYB_UP, DESCARTES_MAIN_FETAL_PDE1C_ACSM3_POSITIVE_CELLS

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

44 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C20orf203	ECHDC1	Q9NTX5	348
C20orf203	HNF1A	P20823	300
C20orf203	ANKH	Q9HCJ1	275
C20orf203	MCPH1	Q8NEM0	272
C20orf203	SFTA3	P0C7M3	245
C20orf203	ST6GAL1	P15907	218
C20orf203	ASPM	Q8IZT6	202
C20orf203	CCNT1	O60563	188
C20orf203	SIGLEC11	Q96RL6	175
C20orf203	MYEOV	Q96EZ4	167
C20orf203	GCN1	Q92616	166
C20orf203	CNRIP1	Q96F85	0
C20orf203	SPATA19	Q7Z5L4	0
C20orf203	CNBD2	Q96M20	0
C20orf203	OPN5	Q6U736	0
C20orf203	MROH2B	Q7Z745	0
C20orf203	POTEI	P0CG38	0
C20orf203	WDR87	Q6ZQQ6	0
C20orf203	TAAR9	Q96RI9	0

IntAct

3 interactions, top by confidence:

A	B	Type	Score
C20orf203	POTEI	psi-mi:“MI:0914”(association)	0.530

BioGRID (7): POTEI (Affinity Capture-MS), CNRIP1 (Affinity Capture-MS), POTEI (Affinity Capture-MS), CNRIP1 (Affinity Capture-MS), CNRIP1 (Affinity Capture-MS), POTEI (Affinity Capture-MS), C20orf203 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1B0GUT2, A0A3Q1LFG5, A1L4Q6, A2RUQ5, A8MQB3, A8MU10, B1ANY3, C0HM98, H3BQW9, J3KSC0, P0C092, P0DMU3, P0DPA3, P24026, P59020, P59021, P59052, P87743, Q06250, Q0IIN9, Q0VFX4, Q14695, Q4R3X9, Q4VX62, Q52M75, Q5SR53, Q6ZUF6, Q6ZWC4, Q71F78, Q7Z4H9, Q8JMY5, Q8JMZ5, Q8JN06, Q8N2C9, Q8N2X6, Q8N3U1, Q8N9X3, Q8NAA6, Q8NBC4, Q8NDY4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1234 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:32650438:A:C	F193L	0.935
20:32650438:A:T	F193L	0.935
20:32650440:A:G	F193L	0.935
20:32650727:A:G	I97T	0.909
20:32650573:A:C	F148L	0.869
20:32650573:A:T	F148L	0.869
20:32650575:A:G	F148L	0.869
20:32650675:C:A	K114N	0.849
20:32650675:C:G	K114N	0.849
20:32650723:C:A	W98C	0.845
20:32650723:C:G	W98C	0.845
20:32650733:T:A	E95V	0.823
20:32650531:G:C	F162L	0.816
20:32650531:G:T	F162L	0.816
20:32650533:A:G	F162L	0.816
20:32650663:T:A	R118S	0.804
20:32650663:T:G	R118S	0.804
20:32650727:A:C	I97S	0.804
20:32650657:C:A	R120S	0.801
20:32650657:C:G	R120S	0.801
20:32651048:A:C	F35L	0.799
20:32651048:A:T	F35L	0.799
20:32651050:A:G	F35L	0.799
20:32650661:T:A	D119V	0.784
20:32650481:A:G	I179T	0.764
20:32650662:C:G	D119H	0.752
20:32650661:T:G	D119A	0.750
20:32650674:C:A	V115L	0.746
20:32650674:C:G	V115L	0.746
20:32650660:A:C	D119E	0.741

dbSNP variants (sampled 300 via entrez): RS1000185456 (20:32671882 G>A), RS1000438071 (20:32669007 G>T), RS1000460368 (20:32665077 C>A), RS1000515922 (20:32664116 A>C), RS1000519740 (20:32670237 G>C,T), RS1000573376 (20:32670057 C>A,T), RS1000752410 (20:32664064 T>C), RS1000758435 (20:32651159 C>A,G,T), RS1000762946 (20:32658872 C>T), RS1000851781 (20:32651388 G>A,C), RS1000924822 (20:32633928 G>A), RS1001040823 (20:32639128 T>A), RS1001108812 (20:32638163 A>G), RS1001147091 (20:32657968 C>A,T), RS1001152822 (20:32639883 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

14 associations (top):

Study	Trait	p-value
GCST004618_51	White blood cell count (basophil)	5.000000e-16
GCST004631_16	Basophil percentage of white cells	9.000000e-17
GCST004634_14	Basophil percentage of granulocytes	1.000000e-14
GCST005146_20	Birth weight	8.000000e-11
GCST005976_25	White blood cell count (basophil)	4.000000e-08
GCST007267_157	Systolic blood pressure	6.000000e-09
GCST007327_179	Smoking status (ever vs never smokers)	3.000000e-12
GCST007928_74	Medication use (diuretics)	9.000000e-09
GCST008839_110	Height	6.000000e-09
GCST90002379_160	Basophil count	1.000000e-21
GCST90002380_21	Basophil percentage of white cells	2.000000e-22
GCST90002396_54	Mean reticulocyte volume	8.000000e-16
GCST90002397_450	Mean spheric corpuscular volume	2.000000e-13
GCST90002403_316	Red blood cell count	1.000000e-13

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0005090	basophil count
EFO:0007992	basophil percentage of leukocytes
EFO:0007995	basophil percentage of granulocytes
EFO:0004344	birth weight
EFO:0006335	systolic blood pressure
EFO:0004318	smoking behavior
EFO:0009928	Diuretic use measurement
EFO:0010701	mean reticulocyte volume
EFO:0004305	erythrocyte count

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
Benzo(a)pyrene	affects methylation	2
bisphenol A	decreases methylation	1
ethyl-p-hydroxybenzoate	decreases expression	1
perfluorooctanoic acid	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
perfluorooctane sulfonic acid	increases expression	1
perfluoro-n-nonanoic acid	increases expression	1
bisphenol S	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Lead	affects expression	1
Methapyrilene	increases methylation	1
Rotenone	increases expression	1
Valproic Acid	increases methylation	1
1-Methyl-4-phenylpyridinium	increases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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