C19orf44

Summary

C19orf44 (chromosome 19 open reading frame 44, HGNC:26141) is a protein-coding gene on chromosome 19p13.11, encoding Uncharacterized protein C19orf44 (Q9H6X5).

At a glance

• Gene–disease (curated): inherited retinal dystrophy (Limited, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 67 total
• MANE Select transcript: NM_032207

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26141
Approved symbol	C19orf44
Name	chromosome 19 open reading frame 44
Location	19p13.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ21742, FCAP71
Ensembl gene	ENSG00000105072
Ensembl biotype	protein_coding
OMIM	621208
Entrez	84167

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 12 protein_coding, 3 nonsense_mediated_decay

ENST00000221671, ENST00000593380, ENST00000594035, ENST00000594813, ENST00000596592, ENST00000599550, ENST00000601109, ENST00000601288, ENST00000862232, ENST00000862233, ENST00000862234, ENST00000862235, ENST00000862236, ENST00000862237, ENST00000948804

RefSeq mRNA: 2 — MANE Select: NM_032207 NM_001288834, NM_032207

CCDS: CCDS12345, CCDS74306

Canonical transcript exons

ENST00000221671 — 9 exons

Exon	Start	End
ENSE00000686923	16509499	16509988
ENSE00000873461	16503065	16503380
ENSE00000873463	16513014	16513109
ENSE00000873464	16514497	16514663
ENSE00001049828	16496394	16496465
ENSE00001246928	16520094	16521352
ENSE00001247008	16500792	16501551
ENSE00003598403	16506701	16506774
ENSE00003616611	16517230	16517341

Expression profiles

Bgee: expression breadth ubiquitous, 166 present calls, max score 88.29.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.6762 / max 57.8509, expressed in 1550 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
174428	4.6762	1550

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oviduct epithelium	UBERON:0004804	88.29	gold quality
sperm	CL:0000019	85.13	silver quality
right uterine tube	UBERON:0001302	84.21	gold quality
right testis	UBERON:0004534	83.80	gold quality
left testis	UBERON:0004533	83.78	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.14	gold quality
testis	UBERON:0000473	82.42	gold quality
pancreatic ductal cell	CL:0002079	81.81	silver quality
ventricular zone	UBERON:0003053	81.61	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.43	gold quality
adenohypophysis	UBERON:0002196	80.24	gold quality
right ovary	UBERON:0002118	79.84	gold quality
left ovary	UBERON:0002119	79.80	gold quality
fallopian tube	UBERON:0003889	79.49	gold quality
right lobe of thyroid gland	UBERON:0001119	78.95	gold quality
pituitary gland	UBERON:0000007	78.65	gold quality
body of uterus	UBERON:0009853	78.43	gold quality
ganglionic eminence	UBERON:0004023	78.25	gold quality
lower esophagus muscularis layer	UBERON:0035833	78.17	gold quality
muscle layer of sigmoid colon	UBERON:0035805	78.16	gold quality
lower esophagus	UBERON:0013473	78.13	gold quality
endocervix	UBERON:0000458	78.11	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	77.95	gold quality
ovary	UBERON:0000992	77.69	gold quality
tibial nerve	UBERON:0001323	77.56	gold quality
gastrocnemius	UBERON:0001388	77.37	gold quality
metanephros cortex	UBERON:0010533	77.33	gold quality
left lobe of thyroid gland	UBERON:0001120	77.18	gold quality
cortical plate	UBERON:0005343	77.08	gold quality
ectocervix	UBERON:0012249	77.04	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.15

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting C19orf44, 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-6748-5P	100.00	65.81	1057
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-1251-3P	99.64	67.21	1408
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-5695	99.41	67.48	1047
HSA-MIR-377-3P	99.37	70.18	1905
HSA-MIR-6744-3P	99.22	64.41	972
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-4757-5P	99.12	64.51	981
HSA-MIR-5587-5P	99.07	68.58	838
HSA-MIR-3916	98.99	68.04	2155
HSA-MIR-6859-5P	98.99	68.07	2049
HSA-MIR-4711-3P	98.97	66.87	1020
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-7114-5P	98.51	67.87	1349
HSA-MIR-6792-3P	98.41	66.86	1359
HSA-MIR-4691-5P	98.41	66.77	1343
HSA-MIR-550A-3P	98.37	69.61	632
HSA-MIR-484	98.16	66.92	1074
HSA-MIR-3155A	98.16	66.09	965
HSA-MIR-3155B	98.16	66.09	965
HSA-MIR-4483	98.09	64.12	1642

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch1073-104i17.1	ENSDARG00000090673
mus_musculus	1700030K09Rik	ENSMUSG00000052794
rattus_norvegicus	C16h19orf44	ENSRNOG00000023700

Protein

Protein identifiers

Uncharacterized protein C19orf44 — Q9H6X5 (reviewed: Q9H6X5)

All UniProt accessions (7): M0QXR9, M0QYD0, M0QZ23, M0R141, M0R1E2, M0R2B3, Q9H6X5

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H6X5-1	1	yes
Q9H6X5-2	2

RefSeq proteins (2): NP_001275763, NP_115583* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027884	DUF4614	Domain
IPR040120	C19orf44-like	Family

Pfam: PF15391

UniProt features (18 total): compositionally biased region 9, region of interest 5, modified residue 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H6X5-F1	52.17	0.08

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 114, 213

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 62 (showing top): RRAGTTGT_UNKNOWN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, AACWWCAANK_UNKNOWN, ACTWSNACTNY_UNKNOWN, chr19p13, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, RATTENBACHER_BOUND_BY_CELF1, GSE14699_NAIVE_VS_ACT_CD8_TCELL_UP, GSE13547_WT_VS_ZFX_KO_BCELL_ANTI_IGM_STIM_12H_DN, ARID5B_TARGET_GENES, E2F5_TARGET_GENES, ELF2_TARGET_GENES, FOXJ2_TARGET_GENES, HES4_TARGET_GENES, IRX3_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

232 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C19orf44	PROSER3	Q2NL68	614
C19orf44	C10orf88	Q9H8K7	543
C19orf44	ZNF440	Q8IYI8	475
C19orf44	CASC3	O15234	462
C19orf44	BCAT1	P54687	454
C19orf44	ARHGEF40	Q8TER5	454
C19orf44	ZNF430	Q9H8G1	436
C19orf44	CEP170	Q5SW79	424
C19orf44	CDC42EP3	Q9UKI2	407
C19orf44	ARRB2	P32121	397
C19orf44	CCDC57	Q2TAC2	370
C19orf44	GIGYF1	O75420	358
C19orf44	CCNB1	P14635	352
C19orf44	CACHD1	Q5VU97	348
C19orf44	RIMKLB	Q9ULI2	348

IntAct

12 interactions, top by confidence:

A	B	Type	Score
BIRC2	HTRA2	psi-mi:“MI:0914”(association)	0.650
CBY2	C19orf44	psi-mi:“MI:0915”(physical association)	0.560
C19orf44	CBY2	psi-mi:“MI:0915”(physical association)	0.560
CDC37	C19orf44	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
CFAP184	TARS3	psi-mi:“MI:0914”(association)	0.350
DUSP16	MEIOC	psi-mi:“MI:0914”(association)	0.350
INSYN1	CCDC85C	psi-mi:“MI:0914”(association)	0.350
C19orf44	GAPDHS	psi-mi:“MI:0914”(association)	0.350
GRIN3B	DAPK3	psi-mi:“MI:0914”(association)	0.350

BioGRID (35): SPERT (Two-hybrid), C19orf44 (Affinity Capture-MS), C19orf44 (Affinity Capture-MS), GAPDHS (Affinity Capture-MS), TRIM11 (Affinity Capture-MS), C19orf44 (Affinity Capture-RNA), C19orf44 (Affinity Capture-RNA), C19orf44 (Two-hybrid), C19orf44 (Two-hybrid), C19orf44 (Two-hybrid), HPCAL1 (Two-hybrid), MTUS2 (Two-hybrid), RINT1 (Two-hybrid), GOLGA2 (Two-hybrid), KRT27 (Two-hybrid)

ESM2 similar proteins: A6QLA6, A9C3N6, A9JRX0, B1AX39, B1WC15, B2GUZ2, F1R983, O54931, O60303, P0DPK0, Q07FY3, Q09003, Q0P4A6, Q13111, Q2KHM9, Q2KIN0, Q2MJV9, Q2T9X8, Q3UHX0, Q3UY34, Q58CQ0, Q58EL7, Q5EAY2, Q5I034, Q5RBY6, Q5RKG1, Q5ZJ26, Q66H16, Q6A000, Q6AXP1, Q6DF94, Q6NRH7, Q6P1D7, Q76FK4, Q80YR7, Q8C753, Q8C804, Q8IYW5, Q8K4R9, Q8N0Z3

Diamond homologs: Q6AXP1, Q922C1, Q9H6X5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	43
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

3906 predictions. Top by Δscore:

Variant	Effect	Δscore
19:16500790:AGAAT:A	acceptor_gain	1.0000
19:16500791:GA:G	acceptor_gain	1.0000
19:16500791:GAATG:G	acceptor_gain	1.0000
19:16501528:G:GT	donor_gain	1.0000
19:16501552:G:GG	donor_gain	1.0000
19:16501552:GTG:G	donor_loss	1.0000
19:16501553:T:A	donor_loss	1.0000
19:16506699:A:AG	acceptor_gain	1.0000
19:16506700:G:GG	acceptor_gain	1.0000
19:16506700:GA:G	acceptor_gain	1.0000
19:16506770:AGGAA:A	donor_gain	1.0000
19:16506771:GGAA:G	donor_gain	1.0000
19:16506771:GGAAG:G	donor_gain	1.0000
19:16506772:GAA:G	donor_gain	1.0000
19:16506772:GAAG:G	donor_gain	1.0000
19:16506772:GAAGT:G	donor_loss	1.0000
19:16506773:AAG:A	donor_loss	1.0000
19:16506774:AGT:A	donor_loss	1.0000
19:16506775:G:GG	donor_gain	1.0000
19:16506775:G:T	donor_loss	1.0000
19:16506776:T:A	donor_loss	1.0000
19:16509987:GG:G	donor_gain	1.0000
19:16509988:GG:G	donor_gain	1.0000
19:16514661:GAG:G	donor_gain	1.0000
19:16514662:AGGT:A	donor_loss	1.0000
19:16514664:G:C	donor_loss	1.0000
19:16519348:CCAGC:C	acceptor_gain	1.0000
19:16519349:CAGC:C	acceptor_gain	1.0000
19:16519349:CAGCC:C	acceptor_gain	1.0000
19:16519351:GCCTG:G	acceptor_loss	1.0000

AlphaMissense

4313 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:16501309:T:C	F173L	0.978
19:16501311:T:A	F173L	0.978
19:16501311:T:G	F173L	0.978
19:16514571:T:C	F604L	0.978
19:16514573:C:A	F604L	0.978
19:16514573:C:G	F604L	0.978
19:16517272:G:C	A649P	0.977
19:16514655:G:C	A632P	0.974
19:16514554:T:C	L598P	0.969
19:16514631:T:C	F624L	0.962
19:16514633:C:A	F624L	0.962
19:16514633:C:G	F624L	0.962
19:16517234:T:C	I636T	0.954
19:16514542:T:C	L594P	0.951
19:16514560:T:C	L600P	0.945
19:16517234:T:A	I636N	0.944
19:16513089:T:A	I572N	0.942
19:16501317:G:C	K175N	0.940
19:16501317:G:T	K175N	0.940
19:16517231:A:C	Y635S	0.940
19:16514530:T:C	L590P	0.938
19:16513089:T:G	I572S	0.932
19:16513091:A:C	S573R	0.931
19:16513093:T:A	S573R	0.931
19:16513093:T:G	S573R	0.931
19:16514593:T:C	L611P	0.930
19:16513109:G:C	A579P	0.929
19:16517234:T:G	I636S	0.924
19:16513100:G:C	A576P	0.922
19:16514605:T:C	L615P	0.922

dbSNP variants (sampled 300 via entrez): RS1000047279 (19:16502452 G>A), RS1000067722 (19:16503710 G>A), RS1000143985 (19:16498884 A>C,G), RS1000171286 (19:16497315 G>A,C), RS1000367581 (19:16505220 CTGTT>C), RS1000396630 (19:16511503 C>G,T), RS1000470148 (19:16511080 A>G), RS1000504630 (19:16498792 T>C), RS1000622276 (19:16498962 G>A), RS1000631513 (19:16503922 T>C), RS1000696866 (19:16505434 C>G,T), RS1001037008 (19:16520681 G>A,C), RS1001086514 (19:16503624 G>T), RS1001092762 (19:16516050 G>A), RS1001177521 (19:16520848 T>G)

Disease associations

OMIM: gene MIM:621208 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
inherited retinal dystrophy	Limited	Autosomal recessive

Mondo (1): inherited retinal dystrophy (MONDO:0019118)

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001137_3	White blood cell count	3.000000e-12
GCST90002388_362	Lymphocyte count	3.000000e-25

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004587	lymphocyte count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D058499	Retinal Dystrophies	C11.768.585.658

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression	2
sodium arsenite	decreases expression	1
benzo(e)pyrene	decreases methylation	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Fulvestrant	increases methylation	1
Benzo(a)pyrene	affects methylation	1
Methapyrilene	decreases methylation	1
Smoke	decreases expression	1
Urethane	decreases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05902962	PHASE1	COMPLETED	SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06319872	PHASE1	RECRUITING	The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
NCT06455826	PHASE1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
NCT04855045	PHASE2/PHASE3	UNKNOWN	An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
NCT03872479	PHASE1/PHASE2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT04123626	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
NCT04545736	PHASE1/PHASE2	RECRUITING	Oral Metformin for Treatment of ABCA4 Retinopathy
NCT06212297	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Fellow-eye Study (FE) of LX101 in Subjects With Inherited Retinal Dystrophy
NCT06852963	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
NCT07177196	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Personalized Antisense Oligonucleotide Therapy for a Single Participant With PRPH2 Mutation Associated With Retinal Dystrophy
NCT07063030	EARLY_PHASE1	RECRUITING	A Study of LX107 Gene Therapy in AIPL1-IRD Patients
NCT01546181	Not specified	COMPLETED	Retinal Imaging by Adaptive Optics in Healthy Eyes and During Retinal and General Diseases
NCT01876147	Not specified	COMPLETED	Visual and Functional Assessment in Low Vision Patients
NCT01920867	Not specified	UNKNOWN	Stem Cell Ophthalmology Treatment Study
NCT02014389	Not specified	RECRUITING	Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer
NCT02983305	Not specified	COMPLETED	Optical Head-Mounted Display Technology for Low Vision Rehabilitation
NCT03592017	Not specified	COMPLETED	Performance of Long-wavelength Autofluorescence Imaging
NCT03662386	Not specified	TERMINATED	Prospective Analysis of Genotype-phenotype Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
NCT03691168	Not specified	UNKNOWN	Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies
NCT03843840	Not specified	COMPLETED	Dual Wavelength OCT
NCT03853252	Not specified	COMPLETED	iPS Cells of Patients for Models of Retinal Dystrophies
NCT05130385	Not specified	UNKNOWN	High Resolution Optical Coherence Tomography
NCT05294978	Not specified	RECRUITING	EyeConic: Qualification for Cone-Optogenetics
NCT05573984	Not specified	ACTIVE_NOT_RECRUITING	Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
NCT05793515	Not specified	COMPLETED	Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models
NCT05820100	Not specified	COMPLETED	Observational Study to Assess the Reliability and Validity of the MLYMT and MLSDT
NCT05976139	Not specified	RECRUITING	Micropulsed Laser in Patients With Macular Oedema in Retinal Dystrophies
NCT06162585	Not specified	ACTIVE_NOT_RECRUITING	Non-Interventional Long Term Follow-up Study of Participants Previously Enrolled in the RESTORE Study
NCT06177977	Not specified	RECRUITING	SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
NCT06375239	Not specified	RECRUITING	Observational Study to Assess Endpoint Operational Feasibility & Measurement Properties in Patients with Retinal Degeneration
NCT06908161	Not specified	NOT_YET_RECRUITING	Functional Assessments in Vision Impairment
NCT07085533	Not specified	RECRUITING	Natural History Study of Inherited Retinal Diseases
NCT07502664	Not specified	RECRUITING	Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)
NCT07529041	Not specified	ENROLLING_BY_INVITATION	Real-time Acoustic Biofeedback for Enhancing Fixation Stability: A Proof-of-concept Study to Improve Ophthalmic Imaging Diagnostic Quality