C19orf73

Summary

C19orf73 (chromosome 19 open reading frame 73, HGNC:25534) is a protein-coding gene on chromosome 19q13.33, encoding Putative uncharacterized protein C19orf73 (Q9NVV2).

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_018111

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25534
Approved symbol	C19orf73
Name	chromosome 19 open reading frame 73
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10490
Ensembl gene	ENSG00000221916
Ensembl biotype	protein_coding
Entrez	55150

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000408991

RefSeq mRNA: 1 — MANE Select: NM_018111 NM_018111

CCDS: CCDS42589

Canonical transcript exons

ENST00000408991 — 1 exons

Exon	Start	End
ENSE00001566324	49118402	49119143

Expression profiles

Bgee: expression breadth ubiquitous, 151 present calls, max score 92.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 1.8085 / max 64.6232, expressed in 1005 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181989	1.8085	1005

Top tissues by expression

246 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	92.13	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.49	gold quality
mucosa of transverse colon	UBERON:0004991	73.98	gold quality
right hemisphere of cerebellum	UBERON:0014890	73.74	gold quality
cerebellar hemisphere	UBERON:0002245	73.34	gold quality
cerebellar cortex	UBERON:0002129	73.17	gold quality
cerebellum	UBERON:0002037	71.56	gold quality
apex of heart	UBERON:0002098	70.58	gold quality
prefrontal cortex	UBERON:0000451	70.35	gold quality
body of pancreas	UBERON:0001150	70.03	gold quality
Brodmann (1909) area 9	UBERON:0013540	69.01	gold quality
lower esophagus mucosa	UBERON:0035834	68.70	gold quality
right frontal lobe	UBERON:0002810	68.69	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	68.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	68.19	gold quality
adenohypophysis	UBERON:0002196	68.11	gold quality
anterior cingulate cortex	UBERON:0009835	67.79	gold quality
right lobe of liver	UBERON:0001114	67.26	gold quality
putamen	UBERON:0001874	66.59	gold quality
granulocyte	CL:0000094	66.41	gold quality
spinal cord	UBERON:0002240	65.96	gold quality
amygdala	UBERON:0001876	65.81	gold quality
pituitary gland	UBERON:0000007	65.68	gold quality
hypothalamus	UBERON:0001898	65.61	gold quality
nucleus accumbens	UBERON:0001882	65.55	gold quality
gastrocnemius	UBERON:0001388	65.11	gold quality
neocortex	UBERON:0001950	64.84	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	64.61	gold quality
caudate nucleus	UBERON:0001873	64.56	gold quality
frontal cortex	UBERON:0001870	64.51	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting C19orf73, 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-144-3P	99.94	73.98	2698
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-486-5P	99.51	70.39	707
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-525-5P	99.35	66.85	1615
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-16-1-3P	98.70	69.23	1538
HSA-MIR-4773	98.35	67.30	1710
HSA-MIR-4257	97.86	68.05	1190
HSA-MIR-1972	97.67	67.38	1172
HSA-MIR-526B-5P	97.41	67.99	1074
HSA-MIR-7847-3P	96.63	64.58	952

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Putative uncharacterized protein C19orf73 — Q9NVV2 (reviewed: Q9NVV2)

All UniProt accessions (1): Q9NVV2

RefSeq proteins (1): NP_060581* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040779	DUF5538	Family

Pfam: PF17692

UniProt features (3 total): chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVV2-F1	59.03	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 69 (showing top): RNGTGGGC_UNKNOWN, MODULE_255, MODULE_317, GTACAGG_MIR486, GGARNTKYCCA_UNKNOWN, MODULE_69, ATACTGT_MIR144, TEF_Q6, MODULE_37, SRC_UP.V1_UP, IL15_UP.V1_UP, KRAS.AMP.LUNG_UP.V1_DN, KRAS.600.LUNG.BREAST_UP.V1_DN, RBM34_TARGET_GENES, SALL4_TARGET_GENES

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

90 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C19orf73	FAM229A	H3BQW9	664
C19orf73	C2orf68	Q2NKX9	571
C19orf73	F5GXT2	F5GXT2	570
C19orf73	SETSIP	P0DME0	506
C19orf73	ANKRD33B	A6NCL7	447
C19orf73	TSPEAR	Q8WU66	420
C19orf73	LY6G5C	Q5SRR4	398
C19orf73	LRRC37A	A6NMS7	395
C19orf73	NAP1L2	Q9ULW6	394
C19orf73	LRRC37A3	O60309	392
C19orf73	TAS2R14	Q9NYV8	391
C19orf73	CDKL3	Q8IVW4	370
C19orf73	DPH3	Q96FX2	369
C19orf73	CLIC2	O15247	324
C19orf73	HRC	P23327	322
C19orf73	TACC2	O95359	322

IntAct

11 interactions, top by confidence:

A	B	Type	Score
C19orf73	TFCP2	psi-mi:“MI:0915”(physical association)	0.560
C19orf73	KRT31	psi-mi:“MI:0915”(physical association)	0.560
C19orf73	KRT40	psi-mi:“MI:0915”(physical association)	0.560
TFCP2	C19orf73	psi-mi:“MI:0915”(physical association)	0.560
	C19orf73	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (3): C19orf73 (Two-hybrid), C19orf73 (Two-hybrid), KRT40 (Two-hybrid)

ESM2 similar proteins: A0A1B0GUV1, A1L4Q6, A2RUQ5, A6NEH8, A6NH13, A8MZ25, B2CW77, B7Z368, O83993, P03294, P06926, P0C044, P0C045, P0C7V0, P0CG42, P0CG43, P0DXC1, P10200, P11300, P16819, P40205, P75410, Q03352, Q1R1V4, Q1W209, Q5T5F5, Q5TG53, Q5W150, Q6UXP9, Q6ZS52, Q6ZSK4, Q6ZSR3, Q6ZTY9, Q71F78, Q8IYB0, Q8N319, Q8N814, Q8N8V8, Q8N9X3, Q8NBB2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

1 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

325 predictions. Top by Δscore:

Variant	Effect	Δscore
19:49118952:A:AC	donor_gain	0.9400
19:49118953:C:CC	donor_gain	0.9400
19:49118961:T:A	donor_gain	0.9400
19:49119080:G:GA	donor_gain	0.9100
19:49119103:G:A	donor_gain	0.8900
19:49118953:CTCCA:C	donor_gain	0.8800
19:49119037:AGC:A	donor_gain	0.8800
19:49119015:AG:A	donor_gain	0.8700
19:49119048:C:A	donor_gain	0.8600
19:49118980:T:A	donor_gain	0.8500
19:49119126:G:A	donor_gain	0.8300
19:49119047:T:TA	donor_gain	0.8200
19:49119098:G:GT	donor_gain	0.8200
19:49119120:C:CT	donor_gain	0.7900
19:49119121:T:TT	donor_gain	0.7900
19:49118593:C:CA	donor_gain	0.7800
19:49119005:TCCAA:T	donor_loss	0.7700
19:49119006:CCAAC:C	donor_loss	0.7700
19:49119007:CAA:C	donor_loss	0.7700
19:49119008:AAC:A	donor_loss	0.7700
19:49119009:A:AG	donor_loss	0.7700
19:49119010:C:CG	donor_loss	0.7700
19:49119011:C:G	donor_loss	0.7700
19:49119074:G:A	donor_gain	0.7700
19:49119107:T:A	donor_gain	0.7500
19:49119122:A:AC	donor_gain	0.7300
19:49119123:C:CC	donor_gain	0.7300
19:49118952:ACT:A	donor_gain	0.7100
19:49118953:CTC:C	donor_gain	0.7100
19:49118996:G:A	donor_gain	0.7100

AlphaMissense

792 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:49119002:A:C	F7L	0.943
19:49119002:A:T	F7L	0.943
19:49119004:A:G	F7L	0.943
19:49118816:C:A	M69I	0.841
19:49118816:C:G	M69I	0.841
19:49118816:C:T	M69I	0.841
19:49119003:A:G	F7S	0.730
19:49118984:G:C	F13L	0.714
19:49118984:G:T	F13L	0.714
19:49118986:A:G	F13L	0.714
19:49118814:A:T	V70D	0.705
19:49119011:C:A	K4N	0.677
19:49119011:C:G	K4N	0.677
19:49118814:A:G	V70A	0.671
19:49118964:A:G	L20S	0.666
19:49118979:T:A	K15I	0.660
19:49119003:A:C	F7C	0.660
19:49118815:C:G	V70L	0.659
19:49118822:C:A	R67S	0.624
19:49118822:C:G	R67S	0.624
19:49118747:C:A	K92N	0.622
19:49118747:C:G	K92N	0.622
19:49118817:A:G	M69T	0.599
19:49118789:C:A	R78S	0.596
19:49118789:C:G	R78S	0.596
19:49118817:A:T	M69K	0.596
19:49118837:G:C	F62L	0.591
19:49118837:G:T	F62L	0.591
19:49118839:A:G	F62L	0.591
19:49118815:C:A	V70F	0.588

dbSNP variants (sampled 300 via entrez): RS1000029134 (19:49118920 C>G,T), RS1001607866 (19:49120048 C>T), RS1001989135 (19:49119243 C>T), RS1003027372 (19:49121037 C>T), RS1003604852 (19:49118035 C>A), RS1004062034 (19:49118174 GT>G), RS1004609609 (19:49118918 T>C,G), RS1004739799 (19:49120525 GC>G), RS1004792085 (19:49120793 G>A), RS1006230531 (19:49120927 C>T), RS1006279679 (19:49120742 C>T), RS1006300487 (19:49119645 G>A,C), RS1006505620 (19:49119460 CG>C,CGG), RS1007550072 (19:49120053 C>T), RS1008161777 (19:49120232 C>A,G,T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:604559

GenCC curated gene-disease

Mondo (1): progressive familial heart block type IB (MONDO:0011474)

Orphanet (1): Hereditary progressive cardiac conduction defect (Orphanet:871)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C567037	Progressive Familial Heart Block, Type Ib (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
abrine	increases expression	1
jinfukang	increases expression, affects cotreatment	1
2,6-dichloro-(1,4)benzoquinone	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cisplatin	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Vitamin E	increases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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