C19orf85

Summary

C19orf85 (chromosome 19 open reading frame 85, HGNC:53653) is a protein-coding gene on chromosome 19q13.42, encoding Uncharacterized protein C19orf85 (A0A1B0GUS0).

At a glance

• MANE Select transcript: NM_001386794

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53653
Approved symbol	C19orf85
Name	chromosome 19 open reading frame 85
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000283567
Ensembl biotype	protein_coding
Entrez	111064650

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000635964

RefSeq mRNA: 1 — MANE Select: NM_001386794 NM_001386794

CCDS: CCDS92691

Canonical transcript exons

ENST00000635964 — 2 exons

Exon	Start	End
ENSE00003793529	55463001	55463967
ENSE00003794070	55464382	55464751

Expression profiles

Bgee: expression breadth broad, 21 present calls, max score 81.08.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2266 / max 121.4871, expressed in 33 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182824	0.2266	33

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.08	gold quality
bone marrow cell	CL:0002092	46.62	gold quality
colonic epithelium	UBERON:0000397	41.46	gold quality
sural nerve	UBERON:0015488	40.19	gold quality
ganglionic eminence	UBERON:0004023	37.31	gold quality
bone marrow	UBERON:0002371	37.09	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
granulocyte	CL:0000094	36.20	gold quality
skeletal muscle tissue	UBERON:0001134	34.80	gold quality
muscle tissue	UBERON:0002385	34.42	gold quality
muscle layer of sigmoid colon	UBERON:0035805	33.93	gold quality
tonsil	UBERON:0002372	33.91	gold quality
liver	UBERON:0002107	33.41	gold quality
smooth muscle tissue	UBERON:0001135	33.22	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
urinary bladder	UBERON:0001255	32.09	gold quality
leukocyte	CL:0000738	30.53	gold quality
monocyte	CL:0000576	30.22	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
colon	UBERON:0001155	29.51	gold quality
vermiform appendix	UBERON:0001154	29.48	gold quality
prefrontal cortex	UBERON:0000451	29.37	gold quality
right uterine tube	UBERON:0001302	29.34	gold quality
adenohypophysis	UBERON:0002196	29.05	gold quality
lymph node	UBERON:0000029	28.85	gold quality
hypothalamus	UBERON:0001898	28.24	gold quality
duodenum	UBERON:0002114	28.14	gold quality
intestine	UBERON:0000160	27.86	gold quality
placenta	UBERON:0001987	27.85	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-3929	yes	39.63
E-ANND-3	no	0.49

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm36210	ENSMUSG00000110221
rattus_norvegicus	C1h19orf85	ENSRNOG00000069979

Protein

Protein identifiers

Uncharacterized protein C19orf85 — A0A1B0GUS0 (reviewed: A0A1B0GUS0)

All UniProt accessions (1): A0A1B0GUS0

RefSeq proteins (1): NP_001373723* (*=MANE)

Domains & families (InterPro)

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GUS0-F1	64.44	0.21

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr19q13

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

400 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C19orf85	VARS1	P26640	203
C19orf85	GTF2F1	P35269	165
C19orf85	BST2	Q10589	163
C19orf85	IL33	O95760	158
C19orf85	RPS18	P25232	155
C19orf85	AURKA	O14965	137
C19orf85	ESPL1	Q14674	137
C19orf85	AURKC	Q9UQB9	137
C19orf85	AURKB	Q96GD4	137
C19orf85	SLFNL1	Q499Z3	134
C19orf85	DDX1	Q92499	134
C19orf85	BUB1B	O60566	131
C19orf85	HSPA9	P30036	131
C19orf85	BUB1	O43683	131
C19orf85	HSPBP1	Q9NZL4	129
C19orf85	SIL1	Q9H173	129

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GUS0, A0A5F9ZHS7, A7E346, A7MB34, A8MZG2, B2RU40, D4A9R4, O08574, O75593, P0C1Z6, P0CG20, Q0VG99, Q0ZCJ7, Q17QH7, Q29RM2, Q2KIS6, Q2M2S6, Q2M3G4, Q2NL68, Q32LE6, Q3U1J1, Q5JXC2, Q5R815, Q5SW24, Q61660, Q63247, Q6NZ36, Q6PBC9, Q6ZN01, Q6ZRI6, Q7TN08, Q7Z591, Q80VF6, Q86WR7, Q8BG26, Q8BP99, Q8BXQ8, Q8IYS4, Q8N9Y4, Q8NAV2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1419 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:55464402:A:C	F51L	0.997
19:55464402:A:T	F51L	0.997
19:55464404:A:G	F51L	0.997
19:55463961:G:C	F60L	0.994
19:55463961:G:T	F60L	0.994
19:55463963:A:G	F60L	0.994
19:55464403:A:G	F51S	0.994
19:55464489:A:C	F22L	0.990
19:55464489:A:T	F22L	0.990
19:55464491:A:G	F22L	0.990
19:55463962:A:G	F60S	0.988
19:55464403:A:C	F51C	0.988
19:55463850:G:C	F97L	0.980
19:55463850:G:T	F97L	0.980
19:55463852:A:G	F97L	0.980
19:55464391:T:G	Q55P	0.980
19:55464406:C:A	R50M	0.980
19:55464490:A:G	F22S	0.979
19:55463754:A:C	F129L	0.977
19:55463754:A:T	F129L	0.977
19:55463756:A:G	F129L	0.977
19:55464405:C:A	R50S	0.977
19:55464405:C:G	R50S	0.977
19:55463962:A:C	F60C	0.976
19:55464388:A:C	I56S	0.974
19:55464408:T:A	R49S	0.974
19:55464408:T:G	R49S	0.974
19:55464490:A:C	F22C	0.973
19:55464414:G:C	N47K	0.969
19:55464414:G:T	N47K	0.969

dbSNP variants (sampled 300 via entrez): RS1000250804 (19:55463153 T>C,G), RS1000273000 (19:55462995 GA>G), RS1000303057 (19:55463479 G>A), RS1001515870 (19:55463772 G>A), RS1001857769 (19:55462666 T>A), RS1002019506 (19:55463891 G>T), RS1002580782 (19:55464946 G>A,T), RS1003289490 (19:55464860 T>A,C), RS1004370443 (19:55464977 G>A,C,T), RS1004759492 (19:55464182 C>T), RS1004825677 (19:55465261 G>A), RS1005215701 (19:55464460 C>T), RS1005375857 (19:55466075 G>A,C,T), RS1005677419 (19:55463834 C>T), RS1007424286 (19:55464708 G>A,C)

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

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
ethyl-p-hydroxybenzoate	decreases expression	1

Clinical trials (associated diseases)

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