C3orf85

Summary

C3orf85 (chromosome 3 open reading frame 85, HGNC:53432) is a protein-coding gene on chromosome 3q13.13, encoding Uncharacterized protein C3orf85 (A0A1B0GTC6).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001351622

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53432
Approved symbol	C3orf85
Name	chromosome 3 open reading frame 85
Location	3q13.13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22763
Ensembl gene	ENSG00000241224
Ensembl biotype	protein_coding
Entrez	401081

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000467240, ENST00000477643, ENST00000479039, ENST00000593799, ENST00000612064, ENST00000616779, ENST00000619765, ENST00000622536, ENST00000904168, ENST00000904169

RefSeq mRNA: 1 — MANE Select: NM_001351622 NM_001351622

CCDS: CCDS87119

Canonical transcript exons

ENST00000622536 — 4 exons

Exon	Start	End
ENSE00001914085	109136844	109136896
ENSE00002984311	109148253	109148386
ENSE00003748058	109149805	109151401
ENSE00003894461	109136719	109136741

Expression profiles

Bgee: expression breadth broad, 68 present calls, max score 99.68.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1486 / max 82.8934, expressed in 19 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
37836	0.1287	19
37835	0.0199	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	99.68	gold quality
ileal mucosa	UBERON:0000331	98.49	gold quality
duodenum	UBERON:0002114	94.72	gold quality
kidney epithelium	UBERON:0004819	94.23	gold quality
mucosa of transverse colon	UBERON:0004991	88.05	gold quality
right lobe of liver	UBERON:0001114	85.93	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.86	gold quality
small intestine	UBERON:0002108	82.83	gold quality
small intestine Peyer’s patch	UBERON:0003454	82.54	gold quality
liver	UBERON:0002107	81.87	gold quality
colonic mucosa	UBERON:0000317	81.08	gold quality
rectum	UBERON:0001052	80.08	gold quality
adult mammalian kidney	UBERON:0000082	79.94	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.89	gold quality
jejunum	UBERON:0002115	77.88	gold quality
mucosa of sigmoid colon	UBERON:0004993	77.41	gold quality
kidney	UBERON:0002113	74.61	gold quality
transverse colon	UBERON:0001157	71.39	gold quality
buccal mucosa cell	CL:0002336	70.97	silver quality
intestine	UBERON:0000160	66.29	gold quality
endothelial cell	CL:0000115	65.05	silver quality
cortex of kidney	UBERON:0001225	64.01	gold quality
large intestine	UBERON:0000059	60.40	gold quality
renal medulla	UBERON:0000362	60.24	gold quality
colon	UBERON:0001155	59.65	gold quality
metanephros	UBERON:0000081	56.10	gold quality
adult organism	UBERON:0007023	55.85	gold quality
metanephros cortex	UBERON:0010533	55.54	gold quality
caput epididymis	UBERON:0004358	55.26	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	76.90
E-ANND-3	yes	3.73

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm5485	ENSMUSG00000110573
rattus_norvegicus	Gm5485	ENSRNOG00000066784

Protein

Protein identifiers

Uncharacterized protein C3orf85 — A0A1B0GTC6 (reviewed: A0A1B0GTC6)

All UniProt accessions (4): A0A1B0GTC6, A0A1B0GV21, A0A1B0GVL1, A0A1B0GVS5

RefSeq proteins (1): NP_001338551* (*=MANE)

Domains & families (InterPro)

UniProt features (2 total): signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GTC6-F1	70.04	0.06

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 22 (showing top): CHIANG_LIVER_CANCER_SUBCLASS_INTERFERON_DN, CHIANG_LIVER_CANCER_SUBCLASS_CTNNB1_UP, DIDO1_TARGET_GENES, GSE13229_MATURE_VS_INTMATURE_NKCELL_UP, GSE15659_NAIVE_CD4_TCELL_VS_NONSUPPRESSIVE_TCELL_UP, GSE15659_CD45RA_NEG_CD4_TCELL_VS_NONSUPPRESSIVE_TCELL_UP, GSE15659_RESTING_TREG_VS_NONSUPPRESSIVE_TCELL_UP, chr3q13, MEBARKI_HCC_PROGENITOR_FZD8CRD_DN, BUSSLINGER_DUODENAL_LATE_IMMATURE_ENTEROCYTES, BUSSLINGER_DUODENAL_MATURE_ENTEROCYTES, DESCARTES_MAIN_FETAL_INTESTINAL_EPITHELIAL_CELLS, DESCARTES_FETAL_KIDNEY_METANEPHRIC_CELLS, HBZ_TARGET_GENES, MYBL1_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

4 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C3orf85	TCP10L	Q8TDR4	0
C3orf85	C1orf232	A0A0U1RR37	0

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GTC6, A0A2U3Y4D7, A0A2Y9HRM2, G5BQH4, G5BWH8, G8F204, P01257, P01261, P02652, P02656, P06759, P0CE37, P0CE39, P0CF78, P0DJD2, P0DJG2, P0DKV2, P0DKV3, P0DKV4, P0DM95, P0DM96, P0DMP9, P0DMR2, P0DMT9, P0DN36, P0DP50, P0DP84, P0DP85, P0DP86, P0DP87, P0DTQ3, P0DTQ5, P0DTR6, P0DTS5, P18656, P18659, P33622, P40148, P41547, P70160

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	1
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

588 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:109148297:T:C	F32L	0.918
3:109148299:C:A	F32L	0.918
3:109148299:C:G	F32L	0.918
3:109148311:A:C	K36N	0.872
3:109148311:A:T	K36N	0.872
3:109148270:T:C	F23L	0.866
3:109148272:T:A	F23L	0.866
3:109148272:T:G	F23L	0.866
3:109148310:A:T	K36I	0.859
3:109148298:T:C	F32S	0.839
3:109136878:T:C	C11R	0.834
3:109148298:T:G	F32C	0.814
3:109148338:G:C	W45C	0.794
3:109148338:G:T	W45C	0.794
3:109148261:G:A	G20R	0.736
3:109148261:G:C	G20R	0.736
3:109148314:A:C	R37S	0.724
3:109148314:A:T	R37S	0.724
3:109136896:G:A	G17R	0.717
3:109136896:G:C	G17R	0.717
3:109148310:A:C	K36T	0.710
3:109148271:T:C	F23S	0.688
3:109148268:C:A	P22Q	0.673
3:109136885:C:A	T13K	0.665
3:109149830:A:T	K70I	0.665
3:109148301:T:C	L33P	0.659
3:109148280:A:T	E26V	0.658
3:109148307:T:C	L35P	0.658
3:109136891:T:A	L15H	0.655
3:109136891:T:G	L15R	0.650

dbSNP variants (sampled 300 via entrez): RS1000422859 (3:109147194 C>G), RS1000481135 (3:109145535 T>C), RS1000517933 (3:109139910 T>G), RS1000707036 (3:109148717 C>G,T), RS1001115174 (3:109136087 A>G), RS1001235535 (3:109136936 A>T), RS1001463198 (3:109136526 C>T), RS1001474401 (3:109146769 A>C), RS1001592750 (3:109149852 G>T), RS1001596102 (3:109146888 A>G), RS1002147060 (3:109144005 A>G,T), RS1002288939 (3:109135303 T>C), RS1002546571 (3:109145634 C>T), RS1002702473 (3:109151669 G>A,T), RS1002896096 (3:109135306 A>G)

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
GCST002251_4	Homeostasis model assessment of beta-cell function (dietary factor interaction)	3.000000e-07
GCST002415_7	Colorectal cancer (diet interaction)	2.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004469	HOMA-B
EFO:0008111	diet measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	1
fipronil	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Palmitic Acid	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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