CCDC124

Summary

CCDC124 (coiled-coil domain containing 124, HGNC:25171) is a protein-coding gene on chromosome 19p13.11, encoding Coiled-coil domain-containing protein 124 (Q96CT7). Ribosome-binding protein involved in ribosome hibernation: associates with translationally inactive ribosomes and stabilizes the nonrotated conformation of the 80S ribosome, thereby promoting ribosome preservation and storage.

Enables RNA binding activity. Predicted to be involved in transcription by RNA polymerase II. Located in cytosol and plasma membrane.

Source: NCBI Gene 115098 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 49 total
• GTEx eGene: eQTL in 40 tissues, sQTL in 38 (q < 0.05)
• Constraint (gnomAD): pLI 0.02 (LoF-tolerant), LOEUF 0.99 (unconstrained)
• MANE Select transcript: NM_001136203

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25171
Approved symbol	CCDC124
Name	coiled-coil domain containing 124
Location	19p13.11
Locus type	gene with protein product
Status	Approved
Aliases	Lso2, oxs1
Ensembl gene	ENSG00000007080
Ensembl biotype	protein_coding
OMIM	621286
Entrez	115098

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 24 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

MANE Select: ENST00000445755

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 2, TSL 5: 1

ENST00000445755, ENST00000596123, ENST00000597436, ENST00000602080, ENST00000873323, ENST00000873324, ENST00000873325, ENST00000873326, ENST00000873327, ENST00000926054, ENST00000926055, ENST00000926056, ENST00000926057, ENST00000926058, ENST00000926059, ENST00000926060, ENST00000926061, ENST00000926062, ENST00000926063, ENST00000926064, ENST00000926065, ENST00000944720, ENST00001006087, ENST00001006088, ENST00001022889, ENST00001100415, ENST00001137941

RefSeq mRNA: 2 — MANE Select: NM_001136203 NM_001136203, NM_138442

CCDS: CCDS12369

Canonical transcript exons

ENST00000445755 — 5 exons

Exon	Start	End
ENSE00000689900	17943261	17943375
ENSE00001056262	17942656	17942845
ENSE00001658662	17936410	17936579
ENSE00001765913	17933015	17933048
ENSE00003035563	17943508	17943985

Expression profiles

Bgee: expression breadth ubiquitous, 214 present calls, max score 97.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.4647 / max 209.8827, expressed in 1821 samples.

Highest expression (Bgee): anterior cingulate cortex, gastrocnemius, lower esophagus muscularis layer, lower esophagus, frontal lobe.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CCDC124 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 40 tissues and its splicing (sQTL) in 38 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 78 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Skin Sun Exposed Lower leg	sqtl	9.4e-103	+1.14	19:17942531:T:C
Thyroid	sqtl	1.4e-63	+0.94	19:17942531:T:C
Lung	sqtl	5.0e-63	+0.90	19:17942531:T:C
Skin Not Sun Exposed Suprapubic	sqtl	5.1e-63	+1.03	19:17942531:T:C
Adipose Subcutaneous	sqtl	1.4e-61	+0.95	19:17942531:T:C
Nerve Tibial	sqtl	1.5e-60	+0.96	19:17942531:T:C
Adipose Visceral Omentum	sqtl	8.5e-55	+1.02	19:17942531:T:C
Cells EBV-transformed lymphocytes	sqtl	5.1e-47	+1.17	19:17942531:T:C
Whole Blood	sqtl	1.5e-46	+0.81	19:17942531:T:C
Breast Mammary Tissue	sqtl	2.8e-42	+0.96	19:17942531:T:C
Colon Transverse	sqtl	3.3e-37	+0.96	19:17942531:T:C
Brain Cerebellar Hemisphere	sqtl	4.5e-35	+1.20	19:17942531:T:C
Brain Frontal Cortex BA9	sqtl	2.4e-34	+1.12	19:17942531:T:C
Artery Aorta	sqtl	1.0e-32	+0.89	19:17942531:T:C
Brain Cortex	sqtl	2.3e-32	+1.13	19:17942531:T:C
Testis	sqtl	1.4e-30	+1.00	19:17942531:T:C
Brain Anterior cingulate cortex BA24	sqtl	2.2e-29	+1.16	19:17942531:T:C
Adipose Subcutaneous	eqtl	8.6e-27	-0.24	19:17934310:G:A
Brain Cerebellum	sqtl	1.7e-26	+1.05	19:17942531:T:C
Artery Tibial	eqtl	1.8e-26	+0.18	19:17939866:T:G

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
174563	32.5623	1821
174564	1.9024	1081

Top tissues by expression

showing 100 of 238 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
anterior cingulate cortex	UBERON:0009835	97.45	gold quality
gastrocnemius	UBERON:0001388	97.35	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.27	gold quality
lower esophagus	UBERON:0013473	97.26	gold quality
right frontal lobe	UBERON:0002810	97.20	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.99	gold quality
apex of heart	UBERON:0002098	96.96	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.90	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.88	gold quality
right atrium auricular region	UBERON:0006631	96.78	gold quality
left coronary artery	UBERON:0001626	96.77	gold quality
lower esophagus mucosa	UBERON:0035834	96.77	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.76	gold quality
prefrontal cortex	UBERON:0000451	96.64	gold quality
muscle of leg	UBERON:0001383	96.60	gold quality
mucosa of transverse colon	UBERON:0004991	96.51	gold quality
popliteal artery	UBERON:0002250	96.50	gold quality
tibial artery	UBERON:0007610	96.49	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.47	gold quality
ascending aorta	UBERON:0001496	96.34	gold quality
aorta	UBERON:0000947	96.32	gold quality
thoracic aorta	UBERON:0001515	96.30	gold quality
coronary artery	UBERON:0001621	96.15	gold quality
amygdala	UBERON:0001876	96.10	gold quality
right coronary artery	UBERON:0001625	96.08	gold quality
skin of leg	UBERON:0001511	96.02	gold quality
hypothalamus	UBERON:0001898	95.90	gold quality
mucosa of stomach	UBERON:0001199	95.89	gold quality
ectocervix	UBERON:0012249	95.82	gold quality
esophagus	UBERON:0001043	95.79	gold quality
skin of abdomen	UBERON:0001416	95.76	gold quality
body of stomach	UBERON:0001161	95.75	gold quality
cardiac atrium	UBERON:0002081	95.69	gold quality
putamen	UBERON:0001874	95.63	gold quality
heart left ventricle	UBERON:0002084	95.57	gold quality
tibial nerve	UBERON:0001323	95.49	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.36	gold quality
body of uterus	UBERON:0009853	95.34	gold quality
descending thoracic aorta	UBERON:0002345	95.33	gold quality
caudate nucleus	UBERON:0001873	95.31	gold quality
endocervix	UBERON:0000458	95.26	gold quality
nucleus accumbens	UBERON:0001882	95.14	gold quality
omental fat pad	UBERON:0010414	95.12	gold quality
peritoneum	UBERON:0002358	95.05	gold quality
esophagus mucosa	UBERON:0002469	95.02	gold quality
cardiac ventricle	UBERON:0002082	95.00	gold quality
left uterine tube	UBERON:0001303	94.96	gold quality
right adrenal gland	UBERON:0001233	94.84	gold quality
minor salivary gland	UBERON:0001830	94.79	gold quality
spinal cord	UBERON:0002240	94.79	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.67	gold quality
left adrenal gland	UBERON:0001234	94.64	gold quality
right lung	UBERON:0002167	94.60	gold quality
right adrenal gland cortex	UBERON:0035827	94.58	gold quality
left adrenal gland cortex	UBERON:0035825	94.56	gold quality
right lobe of thyroid gland	UBERON:0001119	94.53	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.50	gold quality
transverse colon	UBERON:0001157	94.47	gold quality
adipose tissue of abdominal region	UBERON:0007808	94.45	gold quality
upper lobe of left lung	UBERON:0008952	94.42	gold quality
metanephros cortex	UBERON:0010533	94.40	gold quality
ganglionic eminence	UBERON:0004023	94.39	gold quality
right ovary	UBERON:0002118	94.33	gold quality
granulocyte	CL:0000094	94.30	gold quality
left lobe of thyroid gland	UBERON:0001120	94.28	gold quality
stromal cell of endometrium	CL:0002255	94.21	gold quality
cortical plate	UBERON:0005343	94.20	gold quality
neocortex	UBERON:0001950	94.19	gold quality
left ovary	UBERON:0002119	94.15	gold quality
frontal cortex	UBERON:0001870	94.08	gold quality
body of pancreas	UBERON:0001150	94.06	gold quality
cerebellar hemisphere	UBERON:0002245	93.94	gold quality
monocyte	CL:0000576	93.91	gold quality
adenohypophysis	UBERON:0002196	93.91	gold quality
heart	UBERON:0000948	93.90	gold quality
cerebellar cortex	UBERON:0002129	93.86	gold quality
right lobe of liver	UBERON:0001114	93.71	gold quality
zone of skin	UBERON:0000014	93.56	gold quality
leukocyte	CL:0000738	93.54	gold quality
adrenal cortex	UBERON:0001235	93.33	gold quality
upper lobe of lung	UBERON:0008948	93.22	gold quality
saliva-secreting gland	UBERON:0001044	93.10	gold quality
substantia nigra	UBERON:0002038	93.09	gold quality
mouth mucosa	UBERON:0003729	93.05	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.02	gold quality
spleen	UBERON:0002106	92.95	gold quality
subcutaneous adipose tissue	UBERON:0002190	92.90	gold quality
cerebellum	UBERON:0002037	92.89	gold quality
forebrain	UBERON:0001890	92.74	gold quality
pituitary gland	UBERON:0000007	92.64	gold quality
stomach	UBERON:0000945	92.63	gold quality
cerebral cortex	UBERON:0000956	92.58	gold quality
thyroid gland	UBERON:0002046	92.49	gold quality
uterine cervix	UBERON:0000002	92.48	gold quality
brain	UBERON:0000955	92.39	gold quality
right uterine tube	UBERON:0001302	92.37	gold quality
ventricular zone	UBERON:0003053	92.19	gold quality
left testis	UBERON:0004533	91.99	gold quality
adrenal gland	UBERON:0002369	91.98	gold quality
cortex of kidney	UBERON:0001225	91.87	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.17
E-MTAB-7303	no	492.84

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Skeletal muscle	tissue	139.0	medium
Postcentral gyrus	tissue	81.1
Vagina	tissue	75.7	medium
Hippocampus	tissue	74.1	high
Locus coeruleus	tissue	71.8
Frontal cortex	tissue	66.9
Nucleus accumbens	tissue	63.4
Choroid plexus	tissue	60.1
Pituitary gland	tissue	52.3
Salivary gland	tissue	42.6	high
Adipose tissue	tissue	41.6	medium
Bone marrow	tissue	40.2	high
Tongue	tissue	35.7
Caudate putamen	tissue	35.3
Pancreas	tissue	34.8	high
Stomach 1	tissue	33.5	high
Appendix	tissue	30.2	high
Heart muscle	tissue	29.7	medium
Spleen	tissue	26.8	high
Small intestine	tissue	26.0	medium
Adrenal gland	tissue	25.3	medium
Colon	tissue	25.2	high
Skin 1	tissue	25.0	medium
Pons	tissue	24.4
Duodenum	tissue	24.0	high
Ovary	tissue	22.4	medium
Thalamus	tissue	22.4
Lymph node	tissue	21.3	high
Liver	tissue	21.2	medium
Seminal vesicle	tissue	20.9	high
Parathyroid gland	tissue	20.8	medium
Midbrain	tissue	20.4
Superior colliculi	tissue	20.3
Prostate	tissue	20.3	medium
Kidney	tissue	20.2	medium
Medulla oblongata	tissue	20.1
Substantia nigra	tissue	19.4
Placenta	tissue	19.0	medium
Cerebral cortex	tissue	18.7	high
Motor cortex	tissue	18.7
Spinal cord	tissue	18.7
Endometrium 1	tissue	18.6	high
Hypothalamus	tissue	18.6
Somatosensory cortex	tissue	18.3
Lung	tissue	18.2	medium
Periaqueductal gray	tissue	18.0
Prefrontal cortex	tissue	16.6
Occipital cortex	tissue	16.6
Putamen	tissue	16.4
Thymus	tissue	16.4
Cervix	tissue	16.0	high
Hippocampal formation	tissue	16.0
Entorhinal cortex	tissue	16.0
Temporal cortex	tissue	15.9
Testis	tissue	15.6	high
Esophagus	tissue	15.4	medium
Retrosplenial cortex	tissue	15.1
Urinary bladder	tissue	15.0	high
Retrosplenial and cingulate cortex	tissue	14.9
Fallopian tube	tissue	14.7	high

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Blood vessel (97.0), Posterior thalamic nucleus (87.0), Somatomor cortex, precentral gyrus (white matter) (86.7), Orbitofrontal gyrus, anterior (84.7), Lateral vestibular nucleus (84.0).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CCDC124 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

3 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-138-5P	98.43	70.49	1292
HSA-MIR-3661	97.83	67.30	705
HSA-MIR-10398-5P	97.12	64.94	1051

Functional genomics

gnomAD constraint: pLI 0.0202, LOEUF 0.991, missense Z 0.19 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000445755 — one region, missense o/e 0.89.

Literature-anchored findings (GeneRIF, showing 5)

• Ccdc124 is a novel factor operating both for proper progression of late cytokinetic stages in eukaryotes. (PMID:23894443)
• Structure and function of yeast Lso2 and human CCDC124 bound to hibernating ribosomes. (PMID:32687489)
• Coiled-coil domain-containing protein-124 (Ccdc124) is a novel RNA binding factor up-regulated in endometrial, ovarian, and urinary bladder cancers. (PMID:33896821)
• Dimerization underlies the aggregation propensity of intrinsically disordered coiled-coil domain-containing 124. (PMID:34369007)
• Live Cell Protein Imaging of Tandem Complemented-GFP11-Tagged Coiled-Coil Domain-Containing Protein-124 Identifies this Factor in G3BP1-Induced Stress-Granules. (PMID:39009911)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc124	ENSDARG00000043502
mus_musculus	Ccdc124	ENSMUSG00000007721
rattus_norvegicus	Ccdc124	ENSRNOG00000018932
drosophila_melanogaster	CG6013	FBGN0038675
caenorhabditis_elegans	Y73E7A.1	WBGENE00022268

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1916403) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 7 distinct phenotype terms.

Mouse phenotype (MP)	Records
small liver	1
small spleen	1
decreased brain size	1
hyperactivity	1
decreased exploration in new environment	1
small heart	1
small lung	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Pongo abelii	Q5R8X8	94.6%	Diamond
Bos taurus	Q2TBV6	88.8%	Diamond
Xenopus tropicalis	Q28HN4	86.1%	Diamond
Xenopus laevis	Q68EY7	86.1%	Diamond
Dictyostelium discoideum	Q54GW3	53.3%	Diamond
Schizosaccharomyces pombe 972h-	O94389	46.1%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
ARRDC2	protein-coding	27106
KCNN1	protein-coding	3780
SLC5A5	protein-coding	6528
SNORA68	snoRNA	26780
INSL3	protein-coding	3640
JAK3	protein-coding	3718
RPL18A	protein-coding	6142

Protein

Protein identifiers

Coiled-coil domain-containing protein 124 — Q96CT7 (reviewed: Q96CT7)

All UniProt accessions (2): Q96CT7, M0R2F5

UniProt curated annotations — full annotation on UniProt →

Function. Ribosome-binding protein involved in ribosome hibernation: associates with translationally inactive ribosomes and stabilizes the nonrotated conformation of the 80S ribosome, thereby promoting ribosome preservation and storage. Also required for proper progression of late cytokinetic stages.

Subunit / interactions. Associates with translationally inactive ribosomes in the nonrotated state. Interacts with RASGEF1B.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Midbody.

Tissue specificity. Ubiquitously expressed.

Similarity. Belongs to the CCDC124 family.

RefSeq proteins (2): NP_001129675, NP_612451 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010422	Ccdc124/Oxs1	Family
IPR054414	Ccdc124/Oxs1_C	Domain

Pfam: PF06244

UniProt features (13 total): helix 4, region of interest 2, compositionally biased region 2, modified residue 2, chain 1, coiled-coil region 1, sequence variant 1

Structure

Experimental structures (PDB)

6 structures by resolution:

PDB	Title	Method	Resolution (Å)
8K2C	Cryo-EM structure of the human 80S ribosome with Tigecycline	ELECTRON MICROSCOPY	2.4
6ZM7	SARS-CoV-2 Nsp1 bound to the human CCDC124-80S-EBP1 ribosome complex	ELECTRON MICROSCOPY	2.7
9P9H	In situ human unrotated hibernating with CCDC124 state 80S ribosome	ELECTRON MICROSCOPY	2.84
6Z6L	Cryo-EM structure of human CCDC124 bound to 80S ribosomes	ELECTRON MICROSCOPY	3
6ZME	SARS-CoV-2 Nsp1 bound to the human CCDC124-80S-eERF1 ribosome complex	ELECTRON MICROSCOPY	3
8XSY	Cryo-EM structure of the human 80S ribosome with Tigecycline, e-tRNA and CCDC124 (40S …	ELECTRON MICROSCOPY	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96CT7-F1	80.59	0.33

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol; plasma membrane

Antibody reliability (HPA): IH supported · IF enhanced

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)

Type	Positions
Phosphoserine	141, 194

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 85 (showing top): GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_CENTROSOME, GOBP_CELL_DIVISION, GOCC_MIDBODY, chr19p13, GOMF_TRANSCRIPTION_COACTIVATOR_ACTIVITY, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, BRUINS_UVC_RESPONSE_EARLY_LATE, DELACROIX_RARG_BOUND_MEF, GOMF_TRANSCRIPTION_COREGULATOR_ACTIVITY, MYC_UP.V1_UP, CAMP_UP.V1_UP, GSE5503_MLN_DC_VS_SPLEEN_DC_ACTIVATED_ALLOGENIC_TCELL_DN, GSE14415_ACT_TCONV_VS_ACT_NATURAL_TREG_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY

GO Biological Process (3): transcription by RNA polymerase II (GO:0006366), cell division (GO:0051301), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (3): transcription coactivator activity (GO:0003713), RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), centrosome (GO:0005813), cytosol (GO:0005829), plasma membrane (GO:0005886), midbody (GO:0030496)

GO top-level categories

15 GO namespaces:

Category	Terms
DNA-templated transcription	2
cellular anatomical structure	2
cellular process	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
nucleic acid binding	1
binding	1
intracellular membrane-bounded organelle	1
centriole	1
microtubule organizing center	1
cytoplasm	1
membrane	1
cell periphery	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 3 of 11 annotations. The rest are phylogenetic / computational / electronic (IEA).

3 experimentally-supported GO terms:

GO term	NS	Evidence
cytosol	CC	direct assay
plasma membrane	CC	direct assay
RNA binding	MF	high-throughput assay

Protein interactions and networks

STRING

showing 15 of 1,318 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC124	C5orf34	Q96MH7	763
CCDC124	IFRD2	Q12894	638
CCDC124	COPS8	Q99627	629
CCDC124	SERBP1	Q8NC51	578
CCDC124	HAAO	P46952	558
CCDC124	CCDC77	Q9BR77	492
CCDC124	C19orf53	Q9UNZ5	488
CCDC124	AURKAIP1	Q9NWT8	456
CCDC124	RDH12	Q96NR8	436
CCDC124	TUBGCP2	Q9BSJ2	433
CCDC124	EIF3J	O75822	429
CCDC124	PIK3R5	Q8WYR1	429
CCDC124	CDK11B	P21127	416
CCDC124	FAM174C	Q9BVV8	387
CCDC124	RTRAF	Q9Y224	382

IntAct

Human interaction partners of CCDC124 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

5 partners by confidence:

Partner	Interaction type	MIscore	Records
NPM1	colocalization	0.650	6
H1-1	physical association	0.400	1
H2BC9	physical association	0.400	1
MYH9	physical association	0.400	1
ERBB2	association	0.350	1

BioGRID (153 interactions; top human partners by supporting records): ADARB1 (Affinity Capture-MS; 2 records), DCTN1 (Proximity Label-MS; 2 records), EZR (Proximity Label-MS; 2 records), PRKRA (Affinity Capture-MS; 2 records), RPL10 (Affinity Capture-MS; 2 records), AATF (Affinity Capture-MS), ABCE1 (Affinity Capture-MS), APEX1 (Co-fractionation), ATG13 (Affinity Capture-MS), ATG16L1 (Affinity Capture-MS), ATG4B (Affinity Capture-MS), ATOH1 (Affinity Capture-MS), BCOR (Affinity Capture-MS), BRD4 (Affinity Capture-MS), C7orf50 (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for CCDC124: 49 ClinVar records (0 pathogenic / likely pathogenic); 5 GWAS associations.

ClinVar

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

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

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 23 predictions of 465):

Position(s)	Effect	Δscore	Sites
19:17936580	donor_loss	1.0000	2
19:17942654	acceptor_loss	1.0000	3
19:17942824	donor_gain	1.0000
19:17942830	donor_gain	1.0000
19:17943244	acceptor_gain	1.0000
19:17943248	acceptor_gain	1.0000
19:17943252–17943254	acceptor_gain	1.0000	2
19:17943259–17943260	acceptor_loss	1.0000	4
19:17943506–17943507	acceptor_loss	1.0000	2
19:17933049–17933050	donor_loss	0.9900	6

AlphaMissense

564 missense substitutions predicted likely pathogenic (of 1,461 scored), across 152 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
N9	8	0.979	0.996
H164	8	0.969	0.995
N210	8	0.962	0.997
N131	8	0.960	0.993
F5	8	0.924	0.995
N133	8	0.894	0.985
N213	8	0.845	0.984
W204	7	0.993	0.999
W39	7	0.987	0.996
F176	7	0.986	0.997
Q195	7	0.978	0.996
F173	7	0.973	0.990
E166	7	0.966	0.987
M191	7	0.933	0.983
D43	7	0.905	0.933
E77	7	0.822	0.934
E8	7	0.764	0.919
K11	6	0.989	0.998
P211	6	0.982	0.993
K3	6	0.973	0.995

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

Cancer	Prognostic	p-value
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	3.84e-06

Disease associations

OMIM: gene MIM:621286 | disease phenotypes:

GWAS associations

5 associations:

Study	Trait	p-value
GCST90002387_15	Immature fraction of reticulocytes	1e-14
GCST90002385_263	High light scatter reticulocyte count	6e-13
GCST90002386_607	High light scatter reticulocyte percentage of red cells	1e-12
GCST90002385_264	High light scatter reticulocyte count	3e-11
GCST90002386_217	High light scatter reticulocyte percentage of red cells	4e-11

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0007986	reticulocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
bisphenol A	decreases methylation, increases expression	2
Caffeine	decreases phosphorylation, increases expression	2
Valproic Acid	increases expression, increases methylation	2
Particulate Matter	decreases expression, decreases reaction, increases abundance	2
aristolochic acid I	increases expression	1
bisphenol F	increases expression	1
beauvericin	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression, affects localization, increases expression	1
beta-lapachone	increases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	decreases expression	1
bisphenol B	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression, decreases reaction	1
bisphenol AF	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Vehicle Emissions	decreases reaction, decreases expression	1
Furaldehyde	affects cotreatment, decreases expression, affects localization, increases expression	1
Ivermectin	decreases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Sodium Chloride	decreases expression, affects localization, increases expression, affects cotreatment	1
Dronabinol	increases expression	1
Cyclosporine	increases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.