C20orf202

Summary

C20orf202 (chromosome 20 open reading frame 202, HGNC:37254) is a protein-coding gene on chromosome 20p13, encoding Uncharacterized protein C20orf202 (A1L168).

At a glance

• Clinical variants (ClinVar): 6 total — 1 pathogenic
• MANE Select transcript: NM_001394958

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37254
Approved symbol	C20orf202
Name	chromosome 20 open reading frame 202
Location	20p13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000215595
Ensembl biotype	protein_coding
Entrez	400831

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000400633

RefSeq mRNA: 1 — MANE Select: NM_001394958 NM_001394958

CCDS: CCDS46567

Canonical transcript exons

ENST00000400633 — 2 exons

Exon	Start	End
ENSE00001544012	1206869	1209076
ENSE00001544013	1203454	1203651

Expression profiles

Bgee: expression breadth ubiquitous, 117 present calls, max score 87.44.

Top tissues by expression

124 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	87.44	gold quality
placenta	UBERON:0001987	67.15	gold quality
right lung	UBERON:0002167	66.44	gold quality
apex of heart	UBERON:0002098	63.93	gold quality
gall bladder	UBERON:0002110	58.32	gold quality
upper lobe of left lung	UBERON:0008952	58.04	gold quality
islet of Langerhans	UBERON:0000006	58.00	gold quality
lung	UBERON:0002048	57.11	gold quality
cerebellum	UBERON:0002037	56.02	gold quality
cerebellar cortex	UBERON:0002129	55.98	gold quality
cerebellar hemisphere	UBERON:0002245	55.98	gold quality
right hemisphere of cerebellum	UBERON:0014890	55.36	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	55.29	gold quality
heart left ventricle	UBERON:0002084	55.23	gold quality
prefrontal cortex	UBERON:0000451	54.75	gold quality
subcutaneous adipose tissue	UBERON:0002190	54.33	gold quality
muscle of leg	UBERON:0001383	53.55	gold quality
gastrocnemius	UBERON:0001388	53.41	gold quality
adipose tissue	UBERON:0001013	53.27	gold quality
substantia nigra	UBERON:0002038	53.17	gold quality
amygdala	UBERON:0001876	52.65	gold quality
temporal lobe	UBERON:0001871	52.62	gold quality
colonic epithelium	UBERON:0000397	52.34	silver quality
skin of leg	UBERON:0001511	52.01	gold quality
duodenum	UBERON:0002114	51.98	gold quality
omental fat pad	UBERON:0010414	51.98	gold quality
heart	UBERON:0000948	51.96	gold quality
frontal cortex	UBERON:0001870	51.92	gold quality
lymph node	UBERON:0000029	51.87	gold quality
hypothalamus	UBERON:0001898	51.80	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.61

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

55 targeting C20orf202, 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-7110-3P	100.00	73.18	2486
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3659	99.70	67.97	694
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-542-3P	99.34	67.58	1270
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-593-3P	99.22	67.28	1327
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-323B-3P	99.14	68.89	725
HSA-MIR-7702	99.06	65.95	698
HSA-MIR-6814-5P	99.03	66.68	1273
HSA-MIR-361-5P	98.95	70.16	1340
HSA-MIR-760	98.81	66.65	1392
HSA-MIR-210-5P	98.57	64.37	832
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-1910-3P	98.44	67.51	1695

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem74bos	ENSMUSG00000087035
rattus_norvegicus	Tmem74bos	ENSRNOG00000064629

Paralogs (3): FAM167A (ENSG00000154319), FAM167B (ENSG00000183615), AARD (ENSG00000205002)

Protein

Protein identifiers

Uncharacterized protein C20orf202 — A1L168 (reviewed: A1L168)

All UniProt accessions (1): A1L168

UniProt curated annotations — full annotation on UniProt →

RefSeq proteins (1): NP_001381887* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR051771	FAM167_domain	Family

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-A1L168-F1	74.33	0.41

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 10 (showing top): GSE12366_GC_BCELL_VS_PLASMA_CELL_DN, GSE14000_TRANSLATED_RNA_VS_MRNA_4H_LPS_DC_UP, GSE15659_RESTING_TREG_VS_NONSUPPRESSIVE_TCELL_UP, GSE15659_RESTING_VS_ACTIVATED_TREG_UP, chr20p13, DESCARTES_FETAL_CEREBELLUM_VASCULAR_ENDOTHELIAL_CELLS, DESCARTES_FETAL_CEREBRUM_VASCULAR_ENDOTHELIAL_CELLS, GSE37416_CTRL_VS_0H_F_TULARENSIS_LVS_NEUTROPHIL_UP, GSE23114_WT_VS_SLE2C1_MOUSE_PERITONEAL_CAVITY_B1A_BCELL_DN, GSE23114_PERITONEAL_CAVITY_B1A_BCELL_VS_SPLEEN_BCELL_IN_SLE2C1_MOUSE_DN

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

10 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C20orf202	WASHC3	Q9Y3C0	0
C20orf202	CCDC102B	Q68D86	0
C20orf202	SNAPIN	O95295	0
C20orf202	MAPRE1	Q15691	0
C20orf202	HNRNPCL1	O60812	0

IntAct

25 interactions, top by confidence:

A	B	Type	Score
C20orf202	HNRNPCL1	psi-mi:“MI:0915”(physical association)	0.560
C20orf202	MAPRE1	psi-mi:“MI:0915”(physical association)	0.560
C20orf202	WASHC3	psi-mi:“MI:0915”(physical association)	0.560
C20orf202	CCDC102B	psi-mi:“MI:0915”(physical association)	0.560
C20orf202	ABI2	psi-mi:“MI:0915”(physical association)	0.560
C20orf202	SGF29	psi-mi:“MI:0915”(physical association)	0.560
C20orf202	SNAPIN	psi-mi:“MI:0915”(physical association)	0.560
C20orf202	MAPRE3	psi-mi:“MI:0915”(physical association)	0.560
HNRNPCL1	C20orf202	psi-mi:“MI:0915”(physical association)	0.000
MAPRE1	C20orf202	psi-mi:“MI:0915”(physical association)	0.000
WASHC3	C20orf202	psi-mi:“MI:0915”(physical association)	0.000
CCDC102B	C20orf202	psi-mi:“MI:0915”(physical association)	0.000
ABI2	C20orf202	psi-mi:“MI:0915”(physical association)	0.000
SGF29	C20orf202	psi-mi:“MI:0915”(physical association)	0.000
MAPRE3	C20orf202	psi-mi:“MI:0915”(physical association)	0.000
SNAPIN	C20orf202	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (8): C20orf202 (Two-hybrid), C20orf202 (Two-hybrid), C20orf202 (Two-hybrid), C20orf202 (Two-hybrid), C20orf202 (Two-hybrid), C20orf202 (Two-hybrid), C20orf202 (Two-hybrid), C20orf202 (Two-hybrid)

ESM2 similar proteins: A1L168, A1L3T7, A6NGS2, A6QQF7, D4A8G3, O15049, P0C7N2, P0C7N4, P17257, P58660, Q08AY9, Q0V7M8, Q0VDN7, Q14BJ1, Q2NL23, Q3KP66, Q3LUD3, Q3UNU4, Q4LEZ3, Q566R4, Q571B6, Q5BJW5, Q5ND29, Q5RFZ7, Q5XIS1, Q6NSJ2, Q6P1G6, Q6Q0N2, Q7TN12, Q7TSI1, Q811W1, Q8BL43, Q8C7U1, Q8IV03, Q8K1S6, Q8K2P1, Q8N137, Q8N5H3, Q8TE77, Q8WWL2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	5
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
150565	GRCh38/hg38 20p13(chr20:80093-1246766)x1	Pathogenic

SpliceAI

361 predictions. Top by Δscore:

Variant	Effect	Δscore
20:1206867:A:AG	acceptor_gain	0.9900
20:1206868:G:GG	acceptor_gain	0.9900
20:1206868:GTCT:G	acceptor_gain	0.9900
20:1203648:GCTG:G	donor_gain	0.9800
20:1206802:G:T	donor_gain	0.9800
20:1206867:AGTCT:A	acceptor_gain	0.9700
20:1206868:GTCTG:G	acceptor_gain	0.9700
20:1203651:GGT:G	donor_loss	0.9600
20:1203653:T:TC	donor_loss	0.9600
20:1206868:GTC:G	acceptor_gain	0.9600
20:1206773:G:GG	donor_gain	0.9500
20:1206868:GT:G	acceptor_gain	0.9500
20:1206772:A:AG	donor_gain	0.9400
20:1206864:CCTA:C	acceptor_loss	0.9300
20:1206865:CTA:C	acceptor_loss	0.9300
20:1206867:A:C	acceptor_loss	0.9300
20:1203654:A:C	donor_loss	0.9200
20:1203652:G:GG	donor_gain	0.9100
20:1206869:TCTG:T	acceptor_gain	0.9000
20:1206864:CCTAG:C	acceptor_gain	0.8900
20:1206788:A:G	donor_gain	0.8700
20:1206865:CTAG:C	acceptor_gain	0.8700
20:1206866:TAGTC:T	acceptor_gain	0.8700
20:1206863:TCCTA:T	acceptor_gain	0.8500
20:1206871:TG:T	acceptor_gain	0.8500
20:1206867:AG:A	acceptor_gain	0.8400
20:1206868:G:T	acceptor_gain	0.8200
20:1207021:C:T	donor_gain	0.8200
20:1206855:CTTCT:C	acceptor_loss	0.7700
20:1207073:G:T	donor_gain	0.7300

AlphaMissense

786 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:1203638:T:C	L41P	0.981
20:1206918:T:C	L62P	0.980
20:1206876:T:C	M48T	0.978
20:1206877:G:A	M48I	0.976
20:1206877:G:C	M48I	0.976
20:1206877:G:T	M48I	0.976
20:1203650:T:C	L45P	0.969
20:1206888:A:C	D52A	0.969
20:1206897:T:C	L55P	0.969
20:1206909:T:C	L59P	0.963
20:1206888:A:T	D52V	0.960
20:1206887:G:C	D52H	0.945
20:1203634:T:A	W40R	0.932
20:1203634:T:C	W40R	0.932
20:1203642:A:C	R42S	0.929
20:1203642:A:T	R42S	0.929
20:1203636:G:C	W40C	0.928
20:1203636:G:T	W40C	0.928
20:1206939:T:C	L69P	0.926
20:1206889:T:A	D52E	0.921
20:1206889:T:G	D52E	0.921
20:1203647:A:T	E44V	0.917
20:1206876:T:G	M48R	0.916
20:1206930:T:C	L66P	0.906
20:1203648:G:C	E44D	0.896
20:1203648:G:T	E44D	0.896
20:1206900:T:C	L56P	0.896
20:1203629:T:C	L38S	0.892
20:1203647:A:G	E44G	0.890
20:1203638:T:A	L41Q	0.880

dbSNP variants (sampled 300 via entrez): RS1000142386 (20:1205897 A>C), RS1001094902 (20:1205261 A>C), RS1001317348 (20:1207369 A>G), RS1001927821 (20:1201538 T>C), RS1002095376 (20:1203343 G>A,C), RS1002166397 (20:1209102 C>T), RS1002992594 (20:1209346 C>A), RS1003038987 (20:1204143 A>G), RS1003106708 (20:1208821 T>C), RS1003650103 (20:1203755 G>A,C,T), RS1003869216 (20:1202151 A>G), RS1003942512 (20:1204008 G>A,T), RS1004337819 (20:1208782 C>A), RS1004445719 (20:1205495 T>C), RS1005048564 (20:1207050 G>A,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

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

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
Cadmium	increases abundance, increases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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