C14orf93

Summary

C14orf93 (chromosome 14 open reading frame 93, HGNC:20162) is a protein-coding gene on chromosome 14q11.2, encoding Uncharacterized protein C14orf93 (Q9H972).

Enables RNA binding activity. Predicted to act upstream of or within cell differentiation and positive regulation of gene expression. Predicted to be located in extracellular region.

Source: NCBI Gene 60686 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 13 total
• MANE Select transcript: NM_021944

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20162
Approved symbol	C14orf93
Name	chromosome 14 open reading frame 93
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12154, RTFC
Ensembl gene	ENSG00000100802
Ensembl biotype	protein_coding
Entrez	60686

Gene structure

Transcript identifiers

Ensembl transcripts: 40 — 35 protein_coding, 5 protein_coding_CDS_not_defined

ENST00000299088, ENST00000341470, ENST00000397376, ENST00000397377, ENST00000397379, ENST00000397380, ENST00000397382, ENST00000553316, ENST00000553606, ENST00000553675, ENST00000553931, ENST00000553958, ENST00000554179, ENST00000554536, ENST00000555098, ENST00000555575, ENST00000555998, ENST00000556419, ENST00000556812, ENST00000556896, ENST00000557513, ENST00000853154, ENST00000853155, ENST00000853156, ENST00000853157, ENST00000853158, ENST00000853159, ENST00000853160, ENST00000853161, ENST00000853162, ENST00000853163, ENST00000971685, ENST00000971686, ENST00000971687, ENST00000971688, ENST00000971689, ENST00000971690, ENST00000971691, ENST00000971692, ENST00000971693

RefSeq mRNA: 6 — MANE Select: NM_021944 NM_001130706, NM_001130708, NM_001282968, NM_001282969, NM_001282970, NM_021944

CCDS: CCDS61399, CCDS61400, CCDS9583

Canonical transcript exons

ENST00000299088 — 7 exons

Exon	Start	End
ENSE00000889189	22987903	22988015
ENSE00000889190	22989742	22989845
ENSE00000889191	22990066	22990127
ENSE00001031483	23010101	23010143
ENSE00001372541	22998427	22999402
ENSE00001923461	22985894	22987634
ENSE00003787182	22995948	22996268

Expression profiles

Bgee: expression breadth ubiquitous, 210 present calls, max score 85.25.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.3334 / max 68.3181, expressed in 1744 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
142292	6.9136	1739
142291	0.4198	242

Top tissues by expression

255 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	85.25	gold quality
granulocyte	CL:0000094	84.82	gold quality
mucosa of transverse colon	UBERON:0004991	82.95	gold quality
right uterine tube	UBERON:0001302	82.77	gold quality
right lobe of thyroid gland	UBERON:0001119	82.57	gold quality
left lobe of thyroid gland	UBERON:0001120	81.71	gold quality
islet of Langerhans	UBERON:0000006	81.65	gold quality
skin of abdomen	UBERON:0001416	81.63	gold quality
ganglionic eminence	UBERON:0004023	81.53	gold quality
monocyte	CL:0000576	81.49	gold quality
leukocyte	CL:0000738	81.43	gold quality
body of pancreas	UBERON:0001150	81.36	gold quality
skin of leg	UBERON:0001511	81.34	gold quality
mononuclear cell	CL:0000842	81.21	gold quality
stromal cell of endometrium	CL:0002255	81.06	gold quality
ectocervix	UBERON:0012249	80.91	gold quality
apex of heart	UBERON:0002098	80.88	gold quality
gall bladder	UBERON:0002110	80.86	gold quality
endocervix	UBERON:0000458	80.82	gold quality
ventricular zone	UBERON:0003053	80.74	gold quality
metanephros cortex	UBERON:0010533	80.62	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.61	gold quality
thyroid gland	UBERON:0002046	80.50	gold quality
blood	UBERON:0000178	80.49	gold quality
rectum	UBERON:0001052	80.40	gold quality
pancreas	UBERON:0001264	80.29	gold quality
mucosa of stomach	UBERON:0001199	80.21	gold quality
right lobe of liver	UBERON:0001114	80.10	gold quality
transverse colon	UBERON:0001157	80.02	gold quality
left ovary	UBERON:0002119	79.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting C14orf93, 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-5193	100.00	67.26	1744
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-892A	99.54	68.16	1141
HSA-MIR-4728-3P	99.47	68.94	981
HSA-MIR-4762-3P	99.43	69.72	2363
HSA-MIR-4777-5P	99.33	67.53	1148
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-3127-3P	98.94	67.34	1055
HSA-MIR-6756-3P	98.94	66.79	1104
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-6870-3P	98.08	65.10	692
HSA-MIR-4329	97.68	66.26	1003

Literature-anchored findings (GeneRIF, showing 1)

• RTFC promotes thyroid cancer cell survival under starving conditions, and thyroid cancer cell migration. The R115Q, V205M and G209D RTFC mutants enhance the colony forming capacity of thyroid cancer cells, and are able to transform normal thyroid cells. In summary, our data suggest the roles of RTFC in thyroid carcinogenesis. (PMID:27864143)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	4931414P19Rik	ENSMUSG00000022179
rattus_norvegicus	C15h14orf93	ENSRNOG00000013317

Protein

Protein identifiers

Uncharacterized protein C14orf93 — Q9H972 (reviewed: Q9H972)

All UniProt accessions (12): Q9H972, A0A0C4DFZ6, A0A0G2JL88, G3V2P0, G3V2U2, G3V396, G3V3W0, G3V4F1, G3V4L9, G3V4W6, G5E9D9, J3KPV9

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H972-1	1	yes
Q9H972-2	2

RefSeq proteins (6): NP_001124178, NP_001124180, NP_001269897, NP_001269898, NP_001269899, NP_068763* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028101	DUF4616	Family

Pfam: PF15394

UniProt features (14 total): region of interest 3, modified residue 3, sequence conflict 2, cross-link 2, signal peptide 1, chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H972-F1	65.77	0.32

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 (5): 224, 285, 428, 128, 221

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 69 (showing top): ACEVEDO_LIVER_CANCER_UP, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, HUANG_DASATINIB_RESISTANCE_DN, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_UP, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, BRCA1_DN.V1_DN, TGFB_UP.V1_DN, CEBPZ_TARGET_GENES, KAT2A_TARGET_GENES, MAFG_TARGET_GENES, NFE2L1_TARGET_GENES, PAX8_TARGET_GENES, PRKDC_TARGET_GENES, SETD7_TARGET_GENES

GO Biological Process (2): positive regulation of gene expression (GO:0010628), cell differentiation (GO:0030154)

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
cellular developmental process	1
nucleic acid binding	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

324 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C14orf93	CFAP141	Q5VU69	543
C14orf93	SAPCD1	Q5SSQ6	447
C14orf93	HAUS4	Q9H6D7	402
C14orf93	ARLN	Q8WVX3	371
C14orf93	ZBTB44	Q8NCP5	365
C14orf93	LTAP1	Q9BWL3	348
C14orf93	OCIAD2	Q56VL3	321
C14orf93	DLEU7	Q6UYE1	313
C14orf93	SPEG	Q15772	311
C14orf93	ZC3H8	Q8N5P1	307
C14orf93	FOXE1	O00358	306
C14orf93	KANK4	Q5T7N3	305
C14orf93	PLD5	Q8N7P1	300
C14orf93	ACIN1	Q9UKV3	298
C14orf93	PLEKHG5	O94827	293

IntAct

10 interactions, top by confidence:

A	B	Type	Score
C14orf93	MRFAP1	psi-mi:“MI:0915”(physical association)	0.670
PPFIBP2	SNAP29	psi-mi:“MI:0914”(association)	0.530
C14orf93	E7	psi-mi:“MI:0915”(physical association)	0.370
Set	ZKSCAN1	psi-mi:“MI:0914”(association)	0.350
CAPZB	ENAH	psi-mi:“MI:0914”(association)	0.350
CLSTN1	NOP56	psi-mi:“MI:0914”(association)	0.350
MRFAP1	POLR2J	psi-mi:“MI:0914”(association)	0.350

BioGRID (12): MRFAP1 (Two-hybrid), C14orf93 (Affinity Capture-RNA), C14orf93 (Affinity Capture-MS), C14orf93 (Affinity Capture-MS), C14orf93 (Two-hybrid), C14orf93 (Affinity Capture-MS), C14orf93 (Two-hybrid), C14orf93 (Affinity Capture-MS), C14orf93 (Affinity Capture-MS), C14orf93 (Affinity Capture-MS), C14orf93 (Affinity Capture-MS), APP (Reconstituted Complex)

ESM2 similar proteins: A0A1W2PQ72, A7J1T0, A7J1T2, A7MBB4, A8MZ59, D3ZXW3, M0R5D6, O36371, O43283, O43310, O73622, O95073, P03177, P10242, P21705, P46200, Q0P4H6, Q1HKZ5, Q1HVD1, Q1LVK9, Q22811, Q2NKQ1, Q3KSQ2, Q3UPF5, Q535K8, Q562B4, Q567C6, Q5R8X7, Q5ZI27, Q6DGX3, Q6INH1, Q6J1H4, Q6PEE2, Q6ZTZ1, Q71M44, Q7SXL7, Q80T85, Q8BFX3, Q8BIL2, Q8BKE5

Diamond homologs: Q8K2W9, Q9H972

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	1
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1308 predictions. Top by Δscore:

Variant	Effect	Δscore
14:22987649:C:CT	acceptor_gain	1.0000
14:22987649:C:T	acceptor_gain	1.0000
14:22987650:A:T	acceptor_gain	1.0000
14:22987660:T:TC	acceptor_gain	1.0000
14:22987900:TA:T	donor_loss	1.0000
14:22987901:A:AC	donor_gain	1.0000
14:22987901:AC:A	donor_gain	1.0000
14:22987901:ACCCG:A	donor_loss	1.0000
14:22987902:C:CC	donor_gain	1.0000
14:22987902:CC:C	donor_gain	1.0000
14:22988011:GGCTC:G	acceptor_gain	1.0000
14:22988013:CTC:C	acceptor_gain	1.0000
14:22988014:TC:T	acceptor_gain	1.0000
14:22988015:CC:C	acceptor_gain	1.0000
14:22988015:CCTGG:C	acceptor_loss	1.0000
14:22988016:C:CC	acceptor_gain	1.0000
14:22988017:T:G	acceptor_loss	1.0000
14:22988020:C:CT	acceptor_gain	1.0000
14:22989736:TCTCA:T	donor_loss	1.0000
14:22989737:CTCA:C	donor_loss	1.0000
14:22989738:TCAC:T	donor_loss	1.0000
14:22989739:CAC:C	donor_loss	1.0000
14:22989740:A:AC	donor_gain	1.0000
14:22989741:C:CC	donor_gain	1.0000
14:22989841:TGATG:T	acceptor_gain	1.0000
14:22989842:GATG:G	acceptor_gain	1.0000
14:22989843:ATG:A	acceptor_gain	1.0000
14:22989844:TG:T	acceptor_gain	1.0000
14:22989844:TGCT:T	acceptor_loss	1.0000
14:22989845:GCTG:G	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000046493 (14:22986528 G>A), RS1000055919 (14:22994387 T>G), RS1000086226 (14:22993434 A>G), RS1000131023 (14:23011504 T>C), RS1000247566 (14:22986356 C>T), RS1000267319 (14:23011999 G>A), RS1000277845 (14:23007800 A>G), RS1000521738 (14:22993847 G>A,T), RS1000584850 (14:22988250 C>T), RS1001134846 (14:23007477 C>T), RS1001147862 (14:23007443 C>T), RS1001501522 (14:23006467 A>G), RS1001597871 (14:23001981 T>C), RS1001650097 (14:23002410 C>G), RS1001895134 (14:23009044 T>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

6 associations (top):

Study	Trait	p-value
GCST002030_8	Primary tooth development (time to first tooth eruption)	7.000000e-06
GCST002031_8	Primary tooth development (number of teeth)	3.000000e-08
GCST006135_13	Cortical amyloid beta load	6.000000e-06
GCST006135_3	Cortical amyloid beta load	5.000000e-06
GCST006135_4	Cortical amyloid beta load	4.000000e-07
GCST006135_6	Cortical amyloid beta load	4.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007707	cerebral amyloid deposition measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

32 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	decreases expression, increases methylation	2
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
urushiol	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
beta-lapachone	increases expression	1
sodium arsenite	increases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Resveratrol	affects cotreatment, decreases expression, increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Estradiol	decreases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, increases expression	1
Nickel	decreases expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression, increases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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