NCAPG2

Summary

NCAPG2 (non-SMC condensin II complex subunit G2, HGNC:21904) is a protein-coding gene on chromosome 7q36.3, encoding Condensin-2 complex subunit G2 (Q86XI2). Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis. It is a selective cancer dependency (DepMap: 86.8% of cell lines).

This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 54892 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Khan-Khan-Katsanis syndrome (Moderate, GenCC)
• GWAS associations: 9
• Clinical variants (ClinVar): 181 total — 1 likely-pathogenic
• Phenotypes (HPO): 53
• Cancer dependency (DepMap): dependent in 86.8% of screened cell lines
• MANE Select transcript: NM_017760

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21904
Approved symbol	NCAPG2
Name	non-SMC condensin II complex subunit G2
Location	7q36.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20311, MTB, CAP-G2, hCAP-G2
Ensembl gene	ENSG00000146918
Ensembl biotype	protein_coding
OMIM	608532
Entrez	54892

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 23 protein_coding, 5 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000356309, ENST00000409339, ENST00000409423, ENST00000432615, ENST00000441982, ENST00000467785, ENST00000472591, ENST00000474940, ENST00000475918, ENST00000491792, ENST00000621338, ENST00000909179, ENST00000909180, ENST00000909181, ENST00000909182, ENST00000909183, ENST00000909184, ENST00000909185, ENST00000919067, ENST00000919068, ENST00000919069, ENST00000919070, ENST00000919071, ENST00000919072, ENST00000919073, ENST00000919074, ENST00000919075, ENST00000919076, ENST00000919077, ENST00000941393

RefSeq mRNA: 3 — MANE Select: NM_017760 NM_001281932, NM_001281933, NM_017760

CCDS: CCDS43686, CCDS64816

Canonical transcript exons

ENST00000356309 — 28 exons

Exon	Start	End
ENSE00001580339	158704724	158704804
ENSE00001869918	158631169	158631717
ENSE00002217414	158701822	158701938
ENSE00002306870	158693309	158693497
ENSE00003480700	158662194	158662367
ENSE00003481102	158664184	158664296
ENSE00003483782	158646460	158646563
ENSE00003491799	158664528	158664750
ENSE00003500230	158689819	158689953
ENSE00003501548	158656552	158656705
ENSE00003509149	158690568	158690722
ENSE00003518881	158675477	158675656
ENSE00003537958	158686172	158686241
ENSE00003543306	158656260	158656433
ENSE00003546844	158679960	158680085
ENSE00003550816	158644289	158644388
ENSE00003559096	158652293	158652480
ENSE00003564598	158680721	158680816
ENSE00003582188	158654595	158654694
ENSE00003590041	158655118	158655258
ENSE00003615441	158692842	158692956
ENSE00003618511	158687348	158687442
ENSE00003628409	158671514	158671666
ENSE00003633912	158650832	158650972
ENSE00003641703	158683300	158683386
ENSE00003664559	158655339	158655455
ENSE00003667104	158645519	158645619
ENSE00003677211	158658338	158658408

Expression profiles

Bgee: expression breadth ubiquitous, 217 present calls, max score 93.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.9005 / max 487.5155, expressed in 1608 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
87108	11.8737	1606
87107	0.0268	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	93.13	gold quality
secondary oocyte	CL:0000655	92.27	gold quality
oocyte	CL:0000023	90.95	gold quality
sperm	CL:0000019	89.55	gold quality
ganglionic eminence	UBERON:0004023	89.44	gold quality
embryo	UBERON:0000922	89.33	gold quality
male germ cell	CL:0000015	88.20	gold quality
bone marrow	UBERON:0002371	86.63	gold quality
bone marrow cell	CL:0002092	86.40	gold quality
trabecular bone tissue	UBERON:0002483	86.30	gold quality
stromal cell of endometrium	CL:0002255	84.26	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.30	gold quality
right testis	UBERON:0004534	82.57	gold quality
buccal mucosa cell	CL:0002336	82.44	gold quality
testis	UBERON:0000473	82.34	gold quality
left testis	UBERON:0004533	82.01	gold quality
rectum	UBERON:0001052	80.45	gold quality
vermiform appendix	UBERON:0001154	80.19	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.44	gold quality
thymus	UBERON:0002370	78.88	gold quality
lymph node	UBERON:0000029	78.44	gold quality
sural nerve	UBERON:0015488	78.24	gold quality
cortical plate	UBERON:0005343	78.05	gold quality
calcaneal tendon	UBERON:0003701	77.77	gold quality
esophagus mucosa	UBERON:0002469	77.58	gold quality
caecum	UBERON:0001153	77.53	gold quality
mucosa of transverse colon	UBERON:0004991	77.07	gold quality
adrenal tissue	UBERON:0018303	77.04	gold quality
endometrium	UBERON:0001295	76.63	gold quality
tonsil	UBERON:0002372	76.51	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-110499	yes	143.93
E-MTAB-6678	yes	8.49
E-ANND-3	yes	5.48
E-CURD-11	no	285.41

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

48 targeting NCAPG2, 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-656-3P	100.00	72.15	2788
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 86.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 12)

• The CAP-G2 subunit of the condensin II complex implicated in chromosome assembly and segregation (PMID:14532007)
• Microcephalin/MCPH1 associates with the Condensin II complex to function in homologous recombination repair (PMID:18718915)
• increased NCAPG2 expression could regulate cell proliferation and identified as a poor prognostic biomarker in lung adenocarcinoma. (PMID:27862966)
• data suggest that impaired function of NCAPG2 results in a severe condensinopathy, and they highlight the potential utility of examining candidate pathogenic lesions beyond the primary disease locus (PMID:30609410)
• that NCAPG2 is an important oncogene that contributes to HCC proliferation and metastasis. NCAPG2 can activate both the STAT3 and NF-kappaB pathways and activated STAT3 positively regulates NCAPG2 expression. (PMID:31176678)
• NCAPG2 facilitates glioblastoma cells’ malignancy and xenograft tumor growth via HBO1 activation by phosphorylation. (PMID:32897418)
• microRNA-375 inhibits the malignant behaviors of hepatic carcinoma cells by targeting NCAPG2. (PMID:34818025)
• NCAPG2 contributes to the progression of malignant melanoma through regulating proliferation and metastasis. (PMID:36265182)
• Circular RNA circ0001955 promotes cervical cancer tumorigenesis and metastasis via the miR-188-3p/NCAPG2 axis. (PMID:37248471)
• The mRNA stability of NCAPG2, a novel contributor to breast invasive carcinoma, is enhanced by the RNA-binding protein PCBP2. (PMID:37544634)
• NCAPG2 promotes prostate cancer malignancy and stemness via STAT3/c-MYC signaling. (PMID:38166947)
• MYC and NCAPG2 as molecular targets of colorectal cancer and gastric cancer in nursing. (PMID:38701261)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ncapg2	ENSDARG00000060023
mus_musculus	Ncapg2	ENSMUSG00000042029
rattus_norvegicus	Ncapg2	ENSRNOG00000004968
caenorhabditis_elegans		WBGENE00010093

Protein

Protein identifiers

Condensin-2 complex subunit G2 — Q86XI2 (reviewed: Q86XI2)

Alternative names: Chromosome-associated protein G2, Leucine zipper protein 5, Non-SMC condensin II complex subunit G2

All UniProt accessions (3): Q86XI2, F8WE06, H0Y6U5

UniProt curated annotations — full annotation on UniProt →

Function. Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis.

Subunit / interactions. Component of the condensin-2 complex, which contains the SMC2 and SMC4 heterodimer, and 3 non SMC subunits that probably regulate the complex: NCAPH2, NCAPD3 and NCAPG2.

Subcellular location. Nucleus.

Disease relevance. Khan-Khan-Katsanis syndrome (3KS) [MIM:618460] An autosomal recessive neurodevelopmental disorder characterized by multiple congenital anomalies affecting the ocular, renal, skeletal, and sometimes cardiac systems, defects in urogenital and limb morphogenesis, poor overall growth, microcephaly, and global developmental delay. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86XI2-1	1	yes
Q86XI2-2	2

RefSeq proteins (3): NP_001268861, NP_001268862, NP_060230* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR024741	Condensin2_G2	Family

Pfam: PF12422

UniProt features (12 total): sequence variant 5, modified residue 3, chain 1, repeat 1, sequence conflict 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9F5W	ELECTRON MICROSCOPY	7.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86XI2-F1	87.92	0.62

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 (3): 30, 805, 1119

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2299718	Condensation of Prophase Chromosomes

MSigDB gene sets: 413 (showing top): GOBP_CHROMOSOME_ORGANIZATION, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, KANG_DOXORUBICIN_RESISTANCE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_GROWTH, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MITSIADES_RESPONSE_TO_APLIDIN_DN, GOBP_CHROMOSOME_SEPARATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, KONG_E2F3_TARGETS, GOBP_CHROMOSOME_CONDENSATION, PATIL_LIVER_CANCER, GOBP_INNER_CELL_MASS_CELL_PROLIFERATION, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT

GO Biological Process (10): mitotic sister chromatid segregation (GO:0000070), inner cell mass cell proliferation (GO:0001833), transcription by RNA polymerase II (GO:0006366), erythrocyte differentiation (GO:0030218), chromosome condensation (GO:0030261), cell division (GO:0051301), positive regulation of chromosome segregation (GO:0051984), positive regulation of chromosome separation (GO:1905820), positive regulation of chromosome condensation (GO:1905821), chromatin organization (GO:0006325)

GO Molecular Function (3): bHLH transcription factor binding (GO:0043425), histone H4K20me1 reader activity (GO:0140117), protein binding (GO:0005515)

GO Cellular Component (7): condensed nuclear chromosome (GO:0000794), condensin complex (GO:0000796), nucleus (GO:0005634), nucleoplasm (GO:0005654), membrane (GO:0016020), nuclear speck (GO:0016607), nuclear lumen (GO:0031981)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Mitotic Prophase	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
positive regulation of cell cycle process	2
nucleus	2
cellular anatomical structure	2
sister chromatid segregation	1
mitotic nuclear division	1
mitotic cell cycle process	1
blastocyst growth	1
cell population proliferation	1
DNA-templated transcription	1
myeloid cell differentiation	1
erythrocyte homeostasis	1
chromosome organization	1
cellular process	1
chromosome segregation	1
regulation of chromosome segregation	1
chromosome separation	1
regulation of chromosome separation	1
chromosome condensation	1
regulation of chromosome condensation	1
positive regulation of chromosome organization	1
cellular component organization	1
DNA-binding transcription factor binding	1
histone H4 reader activity	1
binding	1
nuclear chromosome	1
condensed chromosome	1
chromosome	1
protein-containing complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
nuclear ribonucleoprotein granule	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

1602 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NCAPG2	NCAPH2	Q6IBW4	999
NCAPG2	NCAPD3	P42695	999
NCAPG2	SMC4	Q9NTJ3	990
NCAPG2	NCAPD2	Q15021	939
NCAPG2	NCAPH	Q15003	864
NCAPG2	PHF8	Q9UPP1	814
NCAPG2	NCAPG	Q9BPX3	734
NCAPG2	RAD21	O60216	706
NCAPG2	PLK1	P53350	705
NCAPG2	H4C16	P02304	678
NCAPG2	MCPH1	Q8NEM0	677
NCAPG2	HCFC1	P51610	654
NCAPG2	SMC2	O95347	649
NCAPG2	H4C7	Q99525	618
NCAPG2	DYNC2I1	Q8WVS4	598

IntAct

97 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
NCAPH2	NCAPG2	psi-mi:“MI:0915”(physical association)	0.640
EPHA1	EXOC5	psi-mi:“MI:0914”(association)	0.530
RIC3	ATP9A	psi-mi:“MI:0914”(association)	0.530
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
NPDC1	TCAF2	psi-mi:“MI:0914”(association)	0.530
LAMP3	METTL15	psi-mi:“MI:0914”(association)	0.530
ILVBL	SLC33A1	psi-mi:“MI:0914”(association)	0.530
Smc4	SMC2	psi-mi:“MI:0914”(association)	0.350
Eea1	WWP2	psi-mi:“MI:0914”(association)	0.350
Cry1	NFIB	psi-mi:“MI:0914”(association)	0.350
NCAPD3	SMC2	psi-mi:“MI:0914”(association)	0.350
PB1	ESYT2	psi-mi:“MI:0914”(association)	0.350
PB2	IPO5	psi-mi:“MI:0914”(association)	0.350
	SMC2	psi-mi:“MI:0914”(association)	0.350
TANK	CNOT1	psi-mi:“MI:0914”(association)	0.350
TNFSF13B	HEATR1	psi-mi:“MI:0914”(association)	0.350
	ZFC3H1	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
	BTAF1	psi-mi:“MI:0914”(association)	0.350
NCAPD3	NDUFS8	psi-mi:“MI:0914”(association)	0.350
CTDP1	ESYT2	psi-mi:“MI:0914”(association)	0.350
FKBP5	IFT56	psi-mi:“MI:0914”(association)	0.350
PTGES3	KIFBP	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
HLA-DQB1	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (132): NCAPG2 (Affinity Capture-MS), NCAPG2 (Affinity Capture-MS), NCAPG2 (Affinity Capture-MS), ACTN4 (Co-fractionation), CLTB (Co-fractionation), NCAPD3 (Co-fractionation), NCAPG2 (Co-fractionation), SSU72 (Co-fractionation), NCAPG2 (Affinity Capture-MS), NCAPG2 (Affinity Capture-MS), NCAPG2 (Affinity Capture-MS), NCAPG2 (Affinity Capture-MS), NCAPG2 (Affinity Capture-Western), NCAPG2 (Affinity Capture-Western), NCAPG2 (Affinity Capture-Western)

ESM2 similar proteins: A0A1L8GXY4, A4D1P6, A8XSV3, B0JZ65, B0R160, B0WYR6, E9Q7R9, F1REV3, F6S215, O00443, O65418, P50748, Q09178, Q12769, Q17I16, Q19317, Q2TAW0, Q3MHH2, Q402B2, Q4V9P9, Q5R6T6, Q5RAY1, Q5RB52, Q5RE88, Q5ZJY3, Q5ZL79, Q5ZLL7, Q6DTM3, Q6GM71, Q6INI5, Q6P996, Q6X9E4, Q6ZQQ6, Q7TMQ7, Q86XI2, Q8BJW5, Q8BMQ2, Q8C3Y4, Q8K3E5, Q8N157

Diamond homologs: E7FH61, Q2TAW0, Q6DFV1, Q86XI2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NCAPG2	“form complex”	“Condensin II”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	118
Likely benign	27
Benign	12

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1806300	NM_017760.7(NCAPG2):c.125T>A (p.Leu42Ter)	Likely pathogenic

SpliceAI

4926 predictions. Top by Δscore:

Variant	Effect	Δscore
7:158645620:C:CA	acceptor_loss	1.0000
7:158645621:T:A	acceptor_loss	1.0000
7:158650762:A:AC	donor_gain	1.0000
7:158650763:C:CC	donor_gain	1.0000
7:158650852:T:C	donor_gain	1.0000
7:158652273:T:TA	donor_gain	1.0000
7:158652306:T:TA	donor_gain	1.0000
7:158652316:T:TA	donor_gain	1.0000
7:158652476:CTTCA:C	acceptor_gain	1.0000
7:158652479:CA:C	acceptor_gain	1.0000
7:158652481:C:CC	acceptor_gain	1.0000
7:158654589:CTGTA:C	donor_loss	1.0000
7:158654590:TGTA:T	donor_loss	1.0000
7:158654591:GTA:G	donor_loss	1.0000
7:158654592:TA:T	donor_loss	1.0000
7:158654593:A:AG	donor_loss	1.0000
7:158654594:CC:C	donor_loss	1.0000
7:158654690:TAGGT:T	acceptor_gain	1.0000
7:158654692:GGT:G	acceptor_gain	1.0000
7:158654692:GGTC:G	acceptor_loss	1.0000
7:158654693:GTC:G	acceptor_loss	1.0000
7:158654694:TCTGT:T	acceptor_loss	1.0000
7:158654695:C:CC	acceptor_gain	1.0000
7:158654695:CTGT:C	acceptor_loss	1.0000
7:158654696:T:G	acceptor_loss	1.0000
7:158655259:C:CC	acceptor_gain	1.0000
7:158655334:CACA:C	donor_loss	1.0000
7:158655335:ACAC:A	donor_loss	1.0000
7:158655336:CACCT:C	donor_loss	1.0000
7:158655337:ACCTT:A	donor_loss	1.0000

AlphaMissense

7548 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:158664614:C:G	R539P	0.996
7:158680058:C:G	A350P	0.994
7:158664290:A:G	L570P	0.993
7:158664581:G:T	A550D	0.993
7:158664615:G:T	R539S	0.993
7:158671634:G:C	S453R	0.993
7:158671634:G:T	S453R	0.993
7:158671636:T:G	S453R	0.993
7:158675625:C:G	R393P	0.993
7:158664569:A:G	F554S	0.992
7:158664668:A:G	L521P	0.992
7:158664602:A:G	L543P	0.991
7:158664710:A:G	L507P	0.991
7:158675494:G:T	R437S	0.991
7:158675547:A:G	L419P	0.991
7:158675628:A:T	V392D	0.991
7:158686201:A:G	W270R	0.991
7:158686201:A:T	W270R	0.991
7:158664612:A:G	C540R	0.990
7:158664747:A:G	W495R	0.990
7:158664747:A:T	W495R	0.990
7:158671545:A:G	L483P	0.990
7:158675496:A:T	V436D	0.990
7:158675652:A:G	L384P	0.990
7:158680057:G:T	A350D	0.990
7:158664567:A:C	Y555D	0.989
7:158675493:C:G	R437P	0.989
7:158675626:G:T	R393S	0.989
7:158680066:C:G	R347P	0.989
7:158664557:G:T	A558D	0.988

dbSNP variants (sampled 300 via entrez): RS1000006760 (7:158651805 G>A), RS1000007062 (7:158695744 T>A,C), RS1000116919 (7:158703165 C>A,T), RS1000133189 (7:158654406 T>A), RS1000221027 (7:158657742 T>C), RS1000232395 (7:158705006 G>A), RS1000272381 (7:158660223 G>A), RS1000299538 (7:158657557 C>A,T), RS1000357402 (7:158663670 T>A,C), RS1000382970 (7:158669844 T>C,G), RS1000497054 (7:158669639 C>T), RS1000525025 (7:158651526 T>C), RS1000537022 (7:158631393 A>C), RS1000582763 (7:158635194 C>A), RS1000588551 (7:158697573 C>A,G)

Disease associations

OMIM: gene MIM:608532 | disease phenotypes: MIM:618460

GenCC curated gene-disease

Disease	Classification	Inheritance
Khan-Khan-Katsanis syndrome	Moderate	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Khan-Khan-Katsanis syndrome	Limited	AR

Mondo (1): Khan-Khan-Katsanis syndrome (MONDO:0032764)

Orphanet (0):

HPO phenotypes

53 total (30 of 53 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000073	Ureteral duplication
HP:0000076	Vesicoureteral reflux
HP:0000089	Renal hypoplasia
HP:0000107	Renal cyst
HP:0000126	Hydronephrosis
HP:0000207	Triangular mouth
HP:0000252	Microcephaly
HP:0000347	Micrognathia
HP:0000407	Sensorineural hearing impairment
HP:0000486	Strabismus
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000557	Buphthalmos
HP:0000559	Corneal scarring
HP:0000580	Pigmentary retinopathy
HP:0000639	Nystagmus
HP:0000659	Peters anomaly
HP:0000960	Sacral dimple
HP:0001128	Trichiasis
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001276	Hypertonia
HP:0001320	Cerebellar vermis hypoplasia
HP:0001344	Absent speech
HP:0001476	Delayed closure of the anterior fontanelle
HP:0001508	Failure to thrive
HP:0001511	Intrauterine growth retardation
HP:0001655	Patent foramen ovale
HP:0001875	Decreased total neutrophil count

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST004713_4	Testicular germ cell tumor	2.000000e-08
GCST007323_96	Risk-taking tendency (4-domain principal component model)	2.000000e-09
GCST007326_9	Number of sexual partners	2.000000e-08
GCST009066_14	Mosaic loss of chromosome Y (Y chromosome dosage)	2.000000e-09
GCST009067_16	Mosaic loss of chromosome Y (Y chromosome dosage)	1.000000e-06
GCST009391_1701	Metabolite levels	1.000000e-06
GCST010002_267	Refractive error	2.000000e-37
GCST011920_2	Hearing loss in noise exposure	2.000000e-06
GCST90002400_63	Plateletcrit	4.000000e-11

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0008579	risk-taking behaviour
EFO:0007783	mosaic loss of chromosome Y measurement
EFO:0010340	cholesteryl ester 14:0 measurement
EFO:0007985	platelet crit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	4
bisphenol A	affects cotreatment, increases methylation, decreases expression, decreases methylation	2
Acetaminophen	increases expression, decreases expression	2
Cyclosporine	decreases expression	2
Cadmium Chloride	decreases expression, increases expression	2
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, decreases reaction	1
cobaltous chloride	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
diallyl trisulfide	decreases expression	1
cyclic 3’,5’-uridine monophosphate	affects binding	1
phenethyl isothiocyanate	decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
2-palmitoylglycerol	increases expression	1
monomethylarsonous acid	decreases expression	1
K 7174	decreases expression	1
trans-10,cis-12-conjugated linoleic acid	decreases expression	1
palbociclib	decreases expression	1
jinfukang	increases expression	1
incobotulinumtoxinA	decreases expression	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	decreases expression	1
Dasatinib	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	decreases expression, increases abundance	1
Azathioprine	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3BW	Abcam HEK293T NCAPG2 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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