C19orf81

Summary

C19orf81 (chromosome 19 open reading frame 81, HGNC:40041) is a protein-coding gene on chromosome 19q13.33, encoding Putative uncharacterized protein C19orf81 (C9J6K1).

At a glance

• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_001195076

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:40041
Approved symbol	C19orf81
Name	chromosome 19 open reading frame 81
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000235034
Ensembl biotype	protein_coding
Entrez	342918

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000425202, ENST00000458538, ENST00000490451, ENST00000850964, ENST00000850965

RefSeq mRNA: 1 — MANE Select: NM_001195076 NM_001195076

CCDS: CCDS54296

Canonical transcript exons

ENST00000425202 — 5 exons

Exon	Start	End
ENSE00001656328	50656226	50656346
ENSE00001730060	50657989	50658128
ENSE00001786467	50658947	50659306
ENSE00003562376	50656050	50656122
ENSE00004283049	50649445	50649511

Expression profiles

Bgee: expression breadth ubiquitous, 144 present calls, max score 79.87.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0803 / max 29.4849, expressed in 488 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177161	0.8945	456
177162	0.1858	106

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adenohypophysis	UBERON:0002196	79.87	gold quality
right hemisphere of cerebellum	UBERON:0014890	79.06	gold quality
cerebellar cortex	UBERON:0002129	78.48	gold quality
cerebellar hemisphere	UBERON:0002245	78.31	gold quality
pituitary gland	UBERON:0000007	78.03	gold quality
pancreatic ductal cell	CL:0002079	77.78	silver quality
cerebellum	UBERON:0002037	77.01	gold quality
left testis	UBERON:0004533	73.97	gold quality
right testis	UBERON:0004534	72.84	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	72.06	gold quality
tendon of biceps brachii	UBERON:0008188	71.87	gold quality
Brodmann (1909) area 9	UBERON:0013540	71.48	gold quality
stromal cell of endometrium	CL:0002255	71.17	gold quality
testis	UBERON:0000473	70.82	gold quality
right uterine tube	UBERON:0001302	70.54	gold quality
spinal cord	UBERON:0002240	69.25	gold quality
right frontal lobe	UBERON:0002810	68.75	gold quality
anterior cingulate cortex	UBERON:0009835	68.49	gold quality
left adrenal gland	UBERON:0001234	68.21	gold quality
left adrenal gland cortex	UBERON:0035825	68.20	gold quality
cerebellar vermis	UBERON:0004720	68.08	gold quality
putamen	UBERON:0001874	67.75	gold quality
amygdala	UBERON:0001876	67.30	gold quality
nucleus accumbens	UBERON:0001882	66.14	gold quality
hypothalamus	UBERON:0001898	66.09	gold quality
right adrenal gland	UBERON:0001233	66.08	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	65.84	gold quality
prefrontal cortex	UBERON:0000451	65.60	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	65.35	gold quality
adrenal cortex	UBERON:0001235	65.34	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

3 targeting C19orf81, 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-6783-3P	99.89	67.92	2059
HSA-MIR-6750-3P	96.79	67.50	740
HSA-MIR-6784-5P	84.56	60.91	126

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	1700008O03Rik	ENSMUSG00000008028
rattus_norvegicus	C1h19orf81	ENSRNOG00000037298

Protein

Protein identifiers

Putative uncharacterized protein C19orf81 — C9J6K1 (reviewed: C9J6K1)

All UniProt accessions (2): C9J6K1, H7BZS0

RefSeq proteins (1): NP_001182005* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031746	DUF4732	Family

Pfam: PF15876

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-C9J6K1-F1	80.45	0.53

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 25 (showing top): ASH1L_TARGET_GENES, BCL6B_TARGET_GENES, CEBPZ_TARGET_GENES, DIDO1_TARGET_GENES, E2F5_TARGET_GENES, EBNA1BP2_TARGET_GENES, PRKDC_TARGET_GENES, ZNF197_TARGET_GENES, ZNF528_TARGET_GENES, GSE13229_IMM_VS_INTMATURE_NKCELL_UP, MANNE_COVID19_NONICU_VS_HEALTHY_DONOR_PLATELETS_UP, DESCARTES_FETAL_MUSCLE_SKELETAL_MUSCLE_CELLS, CDC73_TARGET_GENES, GSE27786_CD4_VS_CD8_TCELL_UP, GSE32423_MEMORY_VS_NAIVE_CD8_TCELL_IL7_IL4_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

70 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C19orf81	CXorf58	Q96LI9	771
C19orf81	AXDND1	Q5T1B0	583
C19orf81	BTBD17	A6NE02	541
C19orf81	SYT3	Q9BQG1	530
C19orf81	TMEM178B	H3BS89	507
C19orf81	CIMIP1	Q9H1P6	475
C19orf81	KIF19	Q2TAC6	447
C19orf81	BRINP2	Q9C0B6	446
C19orf81	CFAP46	Q8IYW2	446
C19orf81	PCDHB15	Q9Y5E8	418
C19orf81	PCDHA10	Q9Y5I2	393
C19orf81	TRPC7	Q9HCX4	376
C19orf81	LRRC4B	Q9NT99	370
C19orf81	TEX261	Q6UWH6	349
C19orf81	SLC25A52	Q3SY17	324

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: C5IY48, C9J6K1, D3Z070, D3ZEF4, D3ZKV9, O14187, P03118, P03121, P03122, P03123, P03177, P03261, P04495, P07296, P11299, P11329, P22155, P22156, P25482, P27552, P36778, P36779, P36781, P36785, P36789, P36793, P50768, P50769, P50771, P50772, Q07849, Q07850, Q07851, Q14999, Q1HVD1, Q3KSQ2, Q5R4R7, Q5RCJ3, Q6UDH3, Q705F3

Diamond homologs: C9J6K1, D3Z070

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

4 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

470 predictions. Top by Δscore:

Variant	Effect	Δscore
19:50656118:TCCTC:T	donor_gain	1.0000
19:50656121:TC:T	donor_gain	1.0000
19:50656123:G:GG	donor_gain	1.0000
19:50656221:CCTA:C	acceptor_loss	1.0000
19:50656223:TA:T	acceptor_loss	1.0000
19:50656224:A:AG	acceptor_gain	1.0000
19:50656224:A:C	acceptor_loss	1.0000
19:50656225:G:GA	acceptor_gain	1.0000
19:50656225:G:T	acceptor_loss	1.0000
19:50656225:GA:G	acceptor_gain	1.0000
19:50656225:GAAA:G	acceptor_gain	1.0000
19:50656292:G:GT	donor_gain	1.0000
19:50656342:CCTTG:C	donor_gain	1.0000
19:50656343:CTTG:C	donor_gain	1.0000
19:50656344:TTG:T	donor_gain	1.0000
19:50656345:TG:T	donor_gain	1.0000
19:50656346:GG:G	donor_gain	1.0000
19:50656347:G:GG	donor_gain	1.0000
19:50656348:T:A	donor_loss	1.0000
19:50657984:CGCA:C	acceptor_loss	1.0000
19:50657985:GCA:G	acceptor_loss	1.0000
19:50657986:CAGC:C	acceptor_loss	1.0000
19:50657987:A:AG	acceptor_gain	1.0000
19:50657987:AGCCC:A	acceptor_gain	1.0000
19:50657988:G:GA	acceptor_gain	1.0000
19:50657988:GCCC:G	acceptor_gain	1.0000
19:50657988:GCCCG:G	acceptor_gain	1.0000
19:50658125:ACCG:A	donor_gain	1.0000
19:50658129:G:GG	donor_gain	1.0000
19:50658130:T:G	donor_loss	1.0000

AlphaMissense

1279 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:50658948:T:A	W135R	0.997
19:50658948:T:C	W135R	0.997
19:50658950:G:C	W135C	0.994
19:50658950:G:T	W135C	0.994
19:50658082:T:C	F119L	0.993
19:50658084:T:A	F119L	0.993
19:50658084:T:G	F119L	0.993
19:50656296:T:C	F71L	0.992
19:50656298:C:A	F71L	0.992
19:50656298:C:G	F71L	0.992
19:50658077:T:A	I117N	0.992
19:50658090:C:A	N121K	0.991
19:50658090:C:G	N121K	0.991
19:50658096:C:A	N123K	0.991
19:50658096:C:G	N123K	0.991
19:50658128:G:C	R134P	0.987
19:50658077:T:C	I117T	0.986
19:50658077:T:G	I117S	0.985
19:50658080:G:C	R118P	0.985
19:50658949:G:C	W135S	0.985
19:50658988:T:C	L148S	0.985
19:50658955:T:A	I137N	0.984
19:50659042:A:T	D166V	0.983
19:50656297:T:G	F71C	0.982
19:50656297:T:C	F71S	0.981
19:50658952:T:C	L136P	0.978
19:50659041:G:C	D166H	0.978
19:50659059:G:C	D172H	0.978
19:50659060:A:T	D172V	0.978
19:50658009:C:A	H94Q	0.977

dbSNP variants (sampled 300 via entrez): RS1000525401 (19:50648096 A>G), RS1000625630 (19:50653855 G>A), RS1000641858 (19:50652573 C>T), RS1000796545 (19:50658724 C>G,T), RS1001187942 (19:50658916 A>G), RS1001235509 (19:50659290 A>G), RS1001235752 (19:50658534 G>A,C), RS1001289551 (19:50658266 G>A,C), RS1001517825 (19:50647920 C>T), RS1001972370 (19:50648647 C>A,T), RS1002024570 (19:50648520 A>C), RS1002132967 (19:50654240 T>C), RS1002200791 (19:50659783 CCCCTACA>C), RS1002447107 (19:50649939 C>T), RS1002593805 (19:50653918 G>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

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
decabromobiphenyl ether	affects expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
jinfukang	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Cisplatin	decreases expression	1
Dimethyl Sulfoxide	affects expression	1
Valproic Acid	increases expression	1
Cadmium Chloride	decreases expression	1
Acrylamide	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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