C13orf46

Summary

C13orf46 (chromosome 13 open reading frame 46, HGNC:53786) is a protein-coding gene on chromosome 13q34, encoding Uncharacterized protein C13orf46 (A0A1B0GUA9).

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001365455

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53786
Approved symbol	C13orf46
Name	chromosome 13 open reading frame 46
Location	13q34
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000283199
Ensembl biotype	protein_coding
Entrez	100507747

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000636427, ENST00000637024

RefSeq mRNA: 1 — MANE Select: NM_001365455 NM_001365455

CCDS: CCDS91842

Canonical transcript exons

ENST00000636000 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 122 present calls, max score 82.09.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0426 / max 18.0434, expressed in 13 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
207129	0.0267	11
138379	0.0159	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	82.09	gold quality
body of pancreas	UBERON:0001150	80.65	gold quality
left testis	UBERON:0004533	78.11	gold quality
right testis	UBERON:0004534	77.84	gold quality
testis	UBERON:0000473	77.47	gold quality
body of stomach	UBERON:0001161	76.66	gold quality
pancreas	UBERON:0001264	74.79	gold quality
stomach	UBERON:0000945	73.99	gold quality
upper lobe of left lung	UBERON:0008952	71.64	gold quality
fundus of stomach	UBERON:0001160	71.55	gold quality
left lobe of thyroid gland	UBERON:0001120	69.72	gold quality
right lobe of thyroid gland	UBERON:0001119	68.28	gold quality
thyroid gland	UBERON:0002046	68.08	gold quality
lung	UBERON:0002048	67.60	gold quality
stromal cell of endometrium	CL:0002255	67.18	gold quality
right lung	UBERON:0002167	66.67	gold quality
granulocyte	CL:0000094	65.73	gold quality
gall bladder	UBERON:0002110	65.27	gold quality
bone marrow cell	CL:0002092	64.62	silver quality
urinary bladder	UBERON:0001255	63.66	gold quality
islet of Langerhans	UBERON:0000006	63.24	gold quality
bone marrow	UBERON:0002371	63.14	gold quality
omental fat pad	UBERON:0010414	62.44	gold quality
blood	UBERON:0000178	61.54	gold quality
prostate gland	UBERON:0002367	61.37	gold quality
right uterine tube	UBERON:0001302	61.05	gold quality
fallopian tube	UBERON:0003889	60.74	gold quality
lower esophagus muscularis layer	UBERON:0035833	60.32	gold quality
lower esophagus	UBERON:0013473	60.16	gold quality
skeletal muscle tissue	UBERON:0001134	59.45	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.73

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	1700029H14Rik	ENSMUSG00000031452
rattus_norvegicus	C16h13orf46	ENSRNOG00000026740

Protein

Protein identifiers

Uncharacterized protein C13orf46 — A0A1B0GUA9 (reviewed: A0A1B0GUA9)

All UniProt accessions (1): A0A1B0GUA9

RefSeq proteins (1): NP_001352384* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040020	C13orf46-like	Family

UniProt features (8 total): compositionally biased region 5, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GUA9-F1	59.64	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 2 (showing top): chr13q34, GENES_CORRELATED_WITH_BRAF_DELETION

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

44 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C13orf46	KLHL3	Q9UH77	417
C13orf46	P2RX1	P51575	273
C13orf46	C1orf115	Q9H7X2	265
C13orf46	TXNRD2	Q9NNW7	248
C13orf46	ERG28	Q9UKR5	224
C13orf46	SCLY	Q96I15	224
C13orf46	CYRIB	Q9NUQ9	201
C13orf46	ALX3	O95076	191
C13orf46	RFC5	P40937	175
C13orf46	UBE2F	Q969M7	175
C13orf46	IQCF1	Q8N6M8	166
C13orf46	HOXA6	P31267	165
C13orf46	POLD3	Q15054	163
C13orf46	CBFA2T2	O43439	160
C13orf46	SLC39A3	Q9BRY0	160
C13orf46	BLM	P54132	160
C13orf46	DCLRE1C	Q96SD1	160

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GUA9, A0JNH1, A1L170, A2TJV2, A6H7B4, A6NFA0, A6NGY1, A6X8Z5, A7YY35, B2RQL2, D3Z1D3, M0RD54, P43359, Q05860, Q0VF49, Q1RMX6, Q1RN00, Q2M1Z3, Q32LI3, Q3URK1, Q5EBJ4, Q5M831, Q5RJL0, Q62100, Q640N3, Q64256, Q642A3, Q66H53, Q66LM6, Q68D20, Q68DA7, Q68US1, Q6AXN6, Q6AYA8, Q6IR42, Q711Q0, Q80VY2, Q86UF4, Q8IY42, Q8TDR4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000065363 (13:113939366 T>C), RS1000083709 (13:113961826 C>A,G,T), RS1000102201 (13:113967414 G>C), RS1000145238 (13:113974759 A>G), RS1000176107 (13:113956177 C>G,T), RS1000203531 (13:113926585 C>G), RS1000342671 (13:113926786 T>A), RS1000354078 (13:113952071 G>A), RS1000396578 (13:113927044 T>C), RS1000486507 (13:113951906 G>A), RS1000499078 (13:113931034 C>A,G,T), RS1000516146 (13:113942780 C>T), RS1000585635 (13:113947256 G>C), RS1000665991 (13:113938373 G>C,T), RS1000713695 (13:113942910 G>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
licochalcone B	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Copper	affects cotreatment, decreases expression	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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