CDCA5

Summary

CDCA5 (cell division cycle associated 5, HGNC:14626) is a protein-coding gene on chromosome 11q13.1, encoding Sororin (Q96FF9). Regulator of sister chromatid cohesion in mitosis stabilizing cohesin complex association with chromatin. It is a common-essential gene (DepMap: required in 92.1% of cancer cell lines).

Predicted to enable chromatin binding activity. Involved in chromosome organization; double-strand break repair; and positive regulation of exit from mitosis. Located in nucleoplasm.

Source: NCBI Gene 113130 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 35 total
• Cancer dependency (DepMap): dependent in 92.1% of screened cell lines (common-essential)
• MANE Select transcript: NM_080668

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14626
Approved symbol	CDCA5
Name	cell division cycle associated 5
Location	11q13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000146670
Ensembl biotype	protein_coding
OMIM	609374
Entrez	113130

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 4 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay

ENST00000275517, ENST00000404147, ENST00000462902, ENST00000479032, ENST00000524733, ENST00000525464, ENST00000527430, ENST00000529290, ENST00000531401, ENST00000533015

RefSeq mRNA: 1 — MANE Select: NM_080668 NM_080668

CCDS: CCDS8091

Canonical transcript exons

ENST00000275517 — 6 exons

Exon	Start	End
ENSE00001193157	65077453	65079187
ENSE00001555179	65083933	65084040
ENSE00003473833	65079353	65079787
ENSE00003476504	65083364	65083399
ENSE00003523225	65083485	65083550
ENSE00003651319	65083629	65083723

Expression profiles

Bgee: expression breadth ubiquitous, 176 present calls, max score 93.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.8842 / max 206.9266, expressed in 1485 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120526	23.8619	1484
120524	0.0172	4
120525	0.0051	3

Top tissues by expression

250 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	93.73	gold quality
ventricular zone	UBERON:0003053	93.14	gold quality
right testis	UBERON:0004534	92.76	gold quality
left testis	UBERON:0004533	92.46	gold quality
ganglionic eminence	UBERON:0004023	91.04	gold quality
testis	UBERON:0000473	90.45	gold quality
mucosa of transverse colon	UBERON:0004991	85.49	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.14	gold quality
bone marrow	UBERON:0002371	83.17	gold quality
secondary oocyte	CL:0000655	81.89	gold quality
vermiform appendix	UBERON:0001154	81.83	gold quality
sperm	CL:0000019	81.17	silver quality
bone marrow cell	CL:0002092	79.53	gold quality
oocyte	CL:0000023	79.38	gold quality
stromal cell of endometrium	CL:0002255	79.33	gold quality
esophagus mucosa	UBERON:0002469	78.43	gold quality
rectum	UBERON:0001052	78.14	gold quality
lymph node	UBERON:0000029	77.30	gold quality
lower esophagus mucosa	UBERON:0035834	76.92	gold quality
thymus	UBERON:0002370	76.80	gold quality
caecum	UBERON:0001153	76.41	gold quality
gingival epithelium	UBERON:0001949	76.31	gold quality
trabecular bone tissue	UBERON:0002483	76.21	gold quality
esophagus squamous epithelium	UBERON:0006920	75.62	silver quality
amniotic fluid	UBERON:0000173	74.27	silver quality
gingiva	UBERON:0001828	73.31	silver quality
cartilage tissue	UBERON:0002418	73.22	gold quality
placenta	UBERON:0001987	73.14	gold quality
prefrontal cortex	UBERON:0000451	72.72	gold quality
spleen	UBERON:0002106	72.17	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-10553	yes	7.28
E-ANND-3	yes	4.12
E-ENAD-17	no	1072.49
E-MTAB-6911	no	263.54

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

45 targeting CDCA5, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-3941	99.86	70.54	2735
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-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-106A-3P	99.53	67.58	995
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-4506	99.34	67.47	526
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-3176	99.25	64.35	954
HSA-MIR-3978	99.24	68.39	2201
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-922	99.02	67.23	1838
HSA-MIR-4711-5P	98.89	68.00	965
HSA-MIR-873-5P	98.84	66.90	1348
HSA-MIR-330-5P	98.73	67.63	1788

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 92.1% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 35)

• data indicate that sororin interacts with chromatin-bound cohesin and functions during the establishment or maintenance of cohesion in S or G2 phase, respectively (PMID:17349791)
• Sororin protects centromeric cohesion in response to the spindle checkpoint, but prevents the removal of cohesion by a mechanism independent of the anaphase-promoting complex. (PMID:17361102)
• Transactivation of CDCA5 and its phosphorylation at Ser209 by ERK play an important role in lung cancer proliferation. (PMID:20551060)
• the interaction of the highly conserved motif at the C terminus of sororin with the cohesin complex is critical to its ability to mediate sister chromatid cohesion. (PMID:21115494)
• Sororin is phosphorylated by Cdk1/cyclin B at prophase and acts as a docking protein to bring Plk1 into proximity with SA2, resulting in the phosphorylation of SA2 and the removal of cohesin complexes from chromosomal arms. (PMID:21987589)
• Data show that the MEK-ERK pathway regulates cell cycle-related neuronal apoptosis (CRNA) by elevating the levels of cyclin D1, and the increase in cyclin D1 attenuates the activation of cyclin-dependent kinase 5 (cdk5) by its neuronal activator p35. (PMID:22833568)
• Targeting p35/Cdk5 signalling via CIP-peptide promotes angiogenesis in hypoxia. (PMID:24098701)
• We propose that the Prp19 complex and the splicing machinery contribute to the establishment of cohesion by promoting Sororin accumulation during S phase, and are, therefore, essential to the maintenance of genome stability. (PMID:25092791)
• A transcriptome-wide analysis revealed that SNW1 or PRPF8 depletion affects the splicing of specific introns in a subset of pre-mRNAs, including pre-mRNAs encoding the cohesion protein sororin and the APC/C subunit APC2. (PMID:25257309)
• the C-terminus of Sororin functions as an anchor binding to SA2, which facilitates other conserved motifs on Sororin to interact with other proteins to regulate sister chromatid cohesion and separation. (PMID:25608232)
• phosphorylation plays unexpected roles in regulating the subcellular localization of Sororin. (PMID:26177583)
• The results suggest that CDCA5 functions as a critical gene supporting oral squamous cell carcinoma progression and that targeting CDCA5 may be a useful therapeutic strategy for oral squamous cell carcinoma. (PMID:26497678)
• Sororin participates in the regulation of centromeric cohesion during meiosis in collaboration with SGO2-PP2A. (PMID:26951638)
• Silencing of CDCA5 suppresses proliferation of gastric cancer cells by inducing G1-phase arrest via downregulating CCNE1. (PMID:29326043)
• These results suggest that satellite I RNA plays a role in stabilizing RBMX and Sororin in the ncRNP complex to maintain proper sister chromatid cohesion. (PMID:29383807)
• high CDCA5 expression was also an independent factor of disease-free survival for patients with acral melanoma (PMID:29452217)
• Rec8-Stag3 cohesin is shown to be susceptible to Wapl-dependent ring opening and sororin-mediated protection. (PMID:29724914)
• High CDCA5 expression is associated with hepatocellular carcinoma. (PMID:30015982)
• These findings suggest that CDCA5 expression is associated with poor prognosis in patients with hepatocellular carcinoma. (PMID:30497429)
• We define a molecular pathway through which SLU7 keeps in check the generation of truncated forms of the splicing factor SRSF3 (SRp20) (SRSF3-TR). Behaving as dominant negative, or by gain-of-function, SRSF3-TR impair the correct splicing and expression of the splicing regulator SRSF1 (ASF/SF2) and the crucial SCC protein sororin. (PMID:30657957)
• LMTK2 binds to KLC1 to direct axonal transport of p35 and its loss may contribute to Alzheimer’s disease. (PMID:31068217)
• Higher expression of cell division cycle-associated protein 5 predicts poorer survival outcomes in hepatocellular carcinoma. (PMID:32694239)
• Cyclin-Dependent Kinase 1 (CDK1) is Co-Expressed with CDCA5: Their Functions in Gastric Cancer Cell Line MGC-803. (PMID:32759885)
• Downregulation of CDCA5 Can Inhibit Cell Proliferation, Migration, and Invasion, and Induce Apoptosis of Prostate Cancer Cells. (PMID:33639053)
• CDCA5 promotes the progression of prostate cancer by affecting the ERK signalling pathway. (PMID:33650660)
• LINC01515 promotes nasopharyngeal carcinoma progression by serving as a sponge for miR-325 to up-regulate CDCA5. (PMID:33770322)
• CDCA5 is negatively regulated by miR-326 and boosts ovarian cancer progression. (PMID:34077004)
• Silencing oncogene cell division cycle associated 5 induces apoptosis and G1 phase arrest of non-small cell lung cancer cells via p53-p21 signaling pathway. (PMID:35373420)
• Knockdown of CDCA5 suppresses malignant progression of breast cancer cells by regulating PDS5A. (PMID:35506437)
• TPI1 activates the PI3K/AKT/mTOR signaling pathway to induce breast cancer progression by stabilizing CDCA5. (PMID:35509067)
• Loss of cell division cycleassociated 5 promotes cell apoptosis by activating DNA damage response in clear cell renal cell carcinoma. (PMID:35642672)
• CDCA5 promotes the progression of breast cancer and serves as a potential prognostic biomarker. (PMID:36004470)
• KLF5-mediated CDCA5 expression promotes tumor development and progression of epithelial ovarian carcinoma. (PMID:37247719)
• CDCA5 promoted cell invasion and migration by activating TGF-beta1 pathway in human ovarian cancer cells. (PMID:38539247)
• CDCA5 accelerates progression of breast cancer by promoting the binding of E2F1 and FOXM1. (PMID:38978058)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cdca5	ENSDARG00000044437
mus_musculus	Cdca5	ENSMUSG00000024791
rattus_norvegicus	Cdca5	ENSRNOG00000046635

Protein

Protein identifiers

Sororin — Q96FF9 (reviewed: Q96FF9)

Alternative names: Cell division cycle-associated protein 5, p35

All UniProt accessions (6): Q96FF9, B5MBX0, H0YCL8, H0YCR8, H0YCT9, H0YCZ9

UniProt curated annotations — full annotation on UniProt →

Function. Regulator of sister chromatid cohesion in mitosis stabilizing cohesin complex association with chromatin. May antagonize the action of WAPL which stimulates cohesin dissociation from chromatin. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. Required for efficient DNA double-stranded break repair.

Subunit / interactions. Interacts with the APC/C complex. Interacts with the chromatin-bound cohesin complex; the interaction is indirect, occurs after DNA replication and requires acetylation of the cohesin component SMC3. Interacts (via the FGF motif) with PDS5A and PDS5B; the interaction is direct and prevents the interaction of PDS5A with WAPL.

Subcellular location. Nucleus. Chromosome. Cytoplasm.

Post-translational modifications. Phosphorylated. Phosphorylation, as cells enter mitosis, disrupts the interaction with PDS5A and relieves the inhibition of WAPL by CDCA5. Ubiquitinated by the APC/C complex in G1, leading to its degradation.

Domain organisation. The KEN box is required for the association with the APC/C complex.

Miscellaneous. Named sororin after the Latin word ‘soror’, which means ‘sister’, because of its critical role in sister chromatid cohesion.

Similarity. Belongs to the sororin family.

RefSeq proteins (1): NP_542399* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018605	Sororin	Family
IPR057261	Sororin-like_M	Domain
IPR057337	Sororin_C	Domain

Pfam: PF09666, PF25220

UniProt features (25 total): modified residue 13, region of interest 4, compositionally biased region 3, short sequence motif 2, chain 1, sequence variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96FF9-F1	63.04	0.04

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 (13): 21, 33, 35, 75, 79, 83, 98, 107, 111, 115, 154, 159, 209

Mutagenesis-validated functional residues (1):

Position	Phenotype
166–168	alters interaction with pds5a and pds5b and the cohesin complex.

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2468052	Establishment of Sister Chromatid Cohesion
R-HSA-2500257	Resolution of Sister Chromatid Cohesion
R-HSA-1640170	Cell Cycle
R-HSA-2555396	Mitotic Metaphase and Anaphase
R-HSA-68877	Mitotic Prometaphase
R-HSA-68882	Mitotic Anaphase
R-HSA-68886	M Phase
R-HSA-69242	S Phase
R-HSA-69278	Cell Cycle, Mitotic

MSigDB gene sets: 258 (showing top): GOBP_CHROMOSOME_ORGANIZATION, KONG_E2F3_TARGETS, chr11q13, GOLDRATH_ANTIGEN_RESPONSE, PATIL_LIVER_CANCER, WEI_MYCN_TARGETS_WITH_E_BOX, INAMURA_LUNG_CANCER_SCC_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, GROSS_HYPOXIA_VIA_ELK3_UP, GOBP_SISTER_CHROMATID_COHESION, GOBP_DNA_DAMAGE_RESPONSE, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, MORI_PRE_BI_LYMPHOCYTE_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, KAMMINGA_EZH2_TARGETS

GO Biological Process (3): double-strand break repair (GO:0006302), mitotic sister chromatid cohesion (GO:0007064), cell division (GO:0051301)

GO Molecular Function (3): chromatin binding (GO:0003682), protein-containing complex binding (GO:0044877), protein binding (GO:0005515)

GO Cellular Component (7): chromosome, centromeric region (GO:0000775), chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
M Phase	2
Cell Cycle, Mitotic	2
Mitotic Anaphase	1
S Phase	1
Mitotic Prometaphase	1
Mitotic Metaphase and Anaphase	1
Cell Cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
binding	3
DNA repair	1
sister chromatid cohesion	1
cellular process	1
chromosomal region	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1368 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CDCA5	PDS5A	Q29RF7	994
CDCA5	WAPL	Q7Z5K2	986
CDCA5	NIPBL	Q6KC79	970
CDCA5	PDS5B	Q9NTI5	937
CDCA5	SMC3	Q9UQE7	932
CDCA5	MAU2	Q9Y6X3	918
CDCA5	AURKB	Q96GD4	907
CDCA5	CDK1	P06493	879
CDCA5	RAD21	O60216	865
CDCA5	CDCA8	Q53HL2	810
CDCA5	SGO1	Q5FBB7	801
CDCA5	STAG1	Q8WVM7	796
CDCA5	CCNB2	O95067	782
CDCA5	BIRC5	O15392	750
CDCA5	CDC20	Q12834	722

IntAct

56 interactions, top by confidence:

A	B	Type	Score
STAG2	RAD21	psi-mi:“MI:0914”(association)	0.970
SMC3	RAD21	psi-mi:“MI:0915”(physical association)	0.960
SMC3	SMC1A	psi-mi:“MI:0914”(association)	0.940
SMC1A	RAD21	psi-mi:“MI:0914”(association)	0.930
SMC1A	CDCA5	psi-mi:“MI:0915”(physical association)	0.830
CDCA5	SMC1A	psi-mi:“MI:0915”(physical association)	0.830
PDS5A	WAPL	psi-mi:“MI:0914”(association)	0.810
SMC1A	PDS5A	psi-mi:“MI:0914”(association)	0.800
SGO1	RAD21	psi-mi:“MI:0914”(association)	0.740
NAA10	CDCA5	psi-mi:“MI:0915”(physical association)	0.670
CDCA5	RAD21	psi-mi:“MI:0914”(association)	0.640
CDCA5	PDS5A	psi-mi:“MI:0914”(association)	0.640
CDCA5	PDS5A	psi-mi:“MI:0407”(direct interaction)	0.640
SGO1	SMC1A	psi-mi:“MI:0914”(association)	0.610
Smc3	RAD21	psi-mi:“MI:0914”(association)	0.600
SGO1	CDCA5	psi-mi:“MI:0915”(physical association)	0.560
NAA11	CDCA5	psi-mi:“MI:0915”(physical association)	0.560
CDCA5	NAA11	psi-mi:“MI:0915”(physical association)	0.560
CDCA5	Smc3	psi-mi:“MI:0915”(physical association)	0.560
SMC1A	PDS5B	psi-mi:“MI:0914”(association)	0.530
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
CDCA5	CDCA5	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (235): CDCA5 (Affinity Capture-MS), SMC1A (Affinity Capture-MS), SMC3 (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), STAG2 (Affinity Capture-MS), NAA10 (Affinity Capture-MS), RAD21 (Affinity Capture-MS), SMC1B (Affinity Capture-MS), ZER1 (Affinity Capture-MS), MGME1 (Affinity Capture-MS), CDCA5 (Proximity Label-MS), CDCA5 (Proximity Label-MS), CDCA5 (Proximity Label-MS), BTD (Affinity Capture-MS), CENPF (Affinity Capture-MS)

ESM2 similar proteins: A1YF19, A2T767, B0K035, F1RCE7, F7BHS0, O95997, P0DPK0, P23999, P97613, Q08B36, Q08BD8, Q09HN1, Q0VA20, Q14140, Q2KHM9, Q2QD14, Q2QD15, Q2T9X8, Q2WG80, Q3SZY3, Q3UHI0, Q3V1H1, Q5R7F8, Q5RBY6, Q5RKG1, Q5XG16, Q5ZJU5, Q6A000, Q6AYH4, Q6DF94, Q7SXC6, Q8BHE0, Q8BHZ5, Q8C804, Q8N0Z3, Q8QGU6, Q8R080, Q8WWK9, Q96C57, Q96FF9

Diamond homologs: Q563C3, Q5XG21, Q96FF9, Q9CPY3

SIGNOR signaling

18 interactions.

A	Effect	B	Mechanism
ERK1/2	“up-regulates activity”	CDCA5	phosphorylation
CDCA5	“down-regulates activity”	WAPL	binding
AURKB	“down-regulates activity”	CDCA5	phosphorylation
CDK1	“down-regulates activity”	CDCA5	phosphorylation
PLK1	“down-regulates activity”	CDCA5	phosphorylation
YAP1	“up-regulates quantity by expression”	CDCA5	“transcriptional regulation”
YAP/TAZ	“up-regulates quantity by expression”	CDCA5	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 38 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
S Phase	6	43.5×	9e-08
SUMOylation of DNA damage response and repair proteins	7	41.0×	9e-09
Meiotic synapsis	7	39.5×	1e-08
SUMOylation	6	39.1×	1e-07
SUMO E3 ligases SUMOylate target proteins	5	35.7×	4e-06
Resolution of Sister Chromatid Cohesion	9	31.1×	3e-10
Estrogen-dependent gene expression	9	27.2×	7e-10
Mitotic Metaphase and Anaphase	7	27.1×	9e-08

GO biological processes:

GO term	Partners	Fold	FDR
sister chromatid cohesion	5	116.1×	4e-08
cell division	11	15.4×	6e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	23
Likely benign	2
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

633 predictions. Top by Δscore:

Variant	Effect	Δscore
11:65079184:TTTT:T	acceptor_gain	1.0000
11:65079186:TT:T	acceptor_gain	1.0000
11:65079188:C:CC	acceptor_gain	1.0000
11:65083623:GCTCA:G	donor_loss	1.0000
11:65083624:CTCAC:C	donor_loss	1.0000
11:65083625:TCA:T	donor_loss	1.0000
11:65083626:CA:C	donor_loss	1.0000
11:65083627:A:T	donor_loss	1.0000
11:65083984:AGGCT:A	donor_gain	1.0000
11:65079185:TTT:T	acceptor_gain	0.9900
11:65079187:TC:T	acceptor_loss	0.9900
11:65079188:C:A	acceptor_loss	0.9900
11:65079189:T:A	acceptor_loss	0.9900
11:65079349:TCA:T	donor_loss	0.9900
11:65079351:A:AC	donor_gain	0.9900
11:65079351:A:AG	donor_loss	0.9900
11:65079352:C:CC	donor_gain	0.9900
11:65079794:C:CT	acceptor_gain	0.9900
11:65079795:A:T	acceptor_gain	0.9900
11:65083362:AC:A	donor_gain	0.9900
11:65083363:CC:C	donor_gain	0.9900
11:65083471:T:A	donor_gain	0.9900
11:65083476:AG:A	donor_gain	0.9900
11:65083479:CTTTA:C	donor_loss	0.9900
11:65083480:TTTAC:T	donor_loss	0.9900
11:65083481:TTACC:T	donor_loss	0.9900
11:65083482:TA:T	donor_loss	0.9900
11:65083483:A:C	donor_loss	0.9900
11:65083484:CC:C	donor_loss	0.9900
11:65083628:CCTT:C	donor_gain	0.9900

AlphaMissense

1616 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:65079143:A:C	F241L	0.997
11:65079143:A:T	F241L	0.997
11:65079145:A:G	F241L	0.997
11:65079125:A:C	F247L	0.996
11:65079125:A:T	F247L	0.996
11:65079127:A:G	F247L	0.996
11:65079144:A:G	F241S	0.995
11:65079144:A:C	F241C	0.993
11:65079120:A:G	L249P	0.991
11:65079136:C:G	A244P	0.989
11:65079151:C:G	A239P	0.989
11:65079135:G:T	A244D	0.988
11:65079602:C:A	R143S	0.987
11:65079602:C:G	R143S	0.987
11:65079169:A:G	W233R	0.986
11:65079169:A:T	W233R	0.986
11:65079590:G:C	S147R	0.986
11:65079590:G:T	S147R	0.986
11:65079592:T:G	S147R	0.986
11:65079601:G:T	R144S	0.986
11:65079167:C:A	W233C	0.985
11:65079167:C:G	W233C	0.985
11:65079126:A:G	F247S	0.984
11:65079166:C:G	A234P	0.983
11:65079114:A:T	V251D	0.981
11:65079160:C:G	A236P	0.981
11:65079120:A:T	L249H	0.980
11:65079603:C:G	R143T	0.980
11:65079126:A:C	F247C	0.977
11:65079152:A:C	N238K	0.977

dbSNP variants (sampled 300 via entrez): RS1000120658 (11:65060876 A>G), RS1000325779 (11:65072230 A>C), RS1000382963 (11:65071901 A>G), RS1000642684 (11:65078371 C>A,T), RS1000727908 (11:65062345 C>T), RS1000728244 (11:65085673 T>C), RS1000785236 (11:65068309 G>C), RS1000798737 (11:65063805 G>A), RS1000931074 (11:65067985 A>G), RS1001052675 (11:65080852 A>G,T), RS1001143223 (11:65060826 C>T), RS1001161516 (11:65062032 T>A), RS1001196282 (11:65074875 A>G), RS1001277835 (11:65067333 ACT>A), RS1001569978 (11:65072511 G>A)

Disease associations

OMIM: gene MIM:609374 | 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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression, affects cotreatment, increases abundance	4
sodium arsenite	increases expression, decreases expression	4
Benzo(a)pyrene	decreases expression, decreases methylation, increases expression	3
Cyclosporine	decreases expression	3
perfluorooctanoic acid	decreases expression, affects cotreatment	2
Cisplatin	decreases expression, increases expression	2
Estradiol	increases expression	2
Tetrachlorodibenzodioxin	increases expression, affects expression, affects cotreatment	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
Zinc	affects cotreatment, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression, decreases expression	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
ginger extract	affects cotreatment, affects expression, increases abundance	1
propionaldehyde	decreases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
16 alpha-ethyl-21-hydroxy-19-nor-4-pregnene-3,20-dione	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
coumarin	affects phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
K 7174	decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
palbociclib	decreases expression	1
jinfukang	increases expression	1
N-methyl-delta-3,3-dihydroindole-2,2 diketone	decreases reaction, increases expression, decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E0TU	Ubigene Hep G2 CDCA5 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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