IQCK

Summary

IQCK (IQ motif containing K, HGNC:28556) is a protein-coding gene on chromosome 16p12.3, encoding IQ domain-containing protein K (Q8N0W5).

This gene belongs to the IQ motif-containing family of proteins. The IQ motif serves as a binding site for different EF-hand proteins such as calmodulin. This gene was identified as a potential candidate gene for obsessive-compulsive disorder in a genome-wide association study. Alternative splicing of this gene results in multiple transcript variants.

Source: NCBI Gene 124152 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 61 total
• MANE Select transcript: NM_153208

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28556
Approved symbol	IQCK
Name	IQ motif containing K
Location	16p12.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC35048, FLJ36575
Ensembl gene	ENSG00000174628
Ensembl biotype	protein_coding
Entrez	124152

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 8 protein_coding, 5 nonsense_mediated_decay, 4 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000308214, ENST00000320394, ENST00000561839, ENST00000561935, ENST00000562762, ENST00000564186, ENST00000564515, ENST00000564955, ENST00000566312, ENST00000568061, ENST00000568126, ENST00000568236, ENST00000568300, ENST00000568387, ENST00000695302, ENST00000892921, ENST00000892922, ENST00000918412, ENST00000952228

RefSeq mRNA: 6 — MANE Select: NM_153208 NM_001305121, NM_001305122, NM_001394804, NM_001394805, NM_001394806, NM_153208

CCDS: CCDS10580

Canonical transcript exons

ENST00000695302 — 9 exons

Exon	Start	End
ENSE00001636001	19856487	19858467
ENSE00003603977	19730430	19730494
ENSE00003625496	19764035	19764112
ENSE00003638334	19827026	19827137
ENSE00003651760	19735353	19735450
ENSE00003655107	19733698	19733827
ENSE00003670846	19763848	19763900
ENSE00003687271	19788838	19788922
ENSE00003963384	19718271	19718487

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 98.04.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.7304 / max 137.7182, expressed in 1685 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
153034	7.5706	1642
153035	3.1598	1131

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	98.04	gold quality
epithelium of bronchus	UBERON:0002031	97.15	gold quality
bronchus	UBERON:0002185	96.71	gold quality
sperm	CL:0000019	95.86	gold quality
right uterine tube	UBERON:0001302	94.98	gold quality
caput epididymis	UBERON:0004358	94.81	gold quality
corpus epididymis	UBERON:0004359	94.29	gold quality
male germ cell	CL:0000015	94.04	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.50	gold quality
mucosa of paranasal sinus	UBERON:0005030	93.42	gold quality
nasal cavity epithelium	UBERON:0005384	92.72	gold quality
paraflocculus	UBERON:0005351	92.23	gold quality
medial globus pallidus	UBERON:0002477	91.62	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.47	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.38	gold quality
nasal cavity mucosa	UBERON:0001826	91.29	gold quality
pons	UBERON:0000988	91.23	gold quality
adult organism	UBERON:0007023	90.60	gold quality
testis	UBERON:0000473	90.52	gold quality
Brodmann (1909) area 10	UBERON:0013541	90.48	gold quality
globus pallidus	UBERON:0001875	90.44	gold quality
left testis	UBERON:0004533	90.35	gold quality
right testis	UBERON:0004534	90.15	gold quality
choroid plexus epithelium	UBERON:0003911	89.56	gold quality
cranial nerve II	UBERON:0000941	89.53	gold quality
middle frontal gyrus	UBERON:0002702	88.98	gold quality
cerebellar vermis	UBERON:0004720	88.64	gold quality
corpus callosum	UBERON:0002336	88.33	gold quality
thyroid gland	UBERON:0002046	88.13	gold quality
seminal vesicle	UBERON:0000998	88.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.89

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

115 targeting IQCK, 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-340-5P	100.00	72.50	4437
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-627-3P	99.90	71.42	3316
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-6857-5P	99.87	65.32	985

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Iqck	ENSMUSG00000073856
rattus_norvegicus	Iqck	ENSRNOG00000036758

Protein

Protein identifiers

IQ domain-containing protein K — Q8N0W5 (reviewed: Q8N0W5)

All UniProt accessions (6): Q8N0W5, H3BPX0, H3BRX5, H3BU74, H3BV97, I3L193

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N0W5-1	1	yes
Q8N0W5-2	2
Q8N0W5-3	3

RefSeq proteins (6): NP_001292050, NP_001292051, NP_001381733, NP_001381734, NP_001381735, NP_694940* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR043408	IQCK	Family

UniProt features (6 total): splice variant 4, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N0W5-F1	71.67	0.43

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 96 (showing top): WANG_CLIM2_TARGETS_UP, YAGI_AML_WITH_INV_16_TRANSLOCATION, MORF_MSH3, GCM_GSPT1, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, ROZANOV_MMP14_TARGETS_UP, GCM_SUFU, GCM_NF2, AGTCAGC_MIR345, GCM_RBM8A, chr16p12, SCGGAAGY_ELK1_02, NUYTTEN_NIPP1_TARGETS_DN, GCM_BMPR2, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

598 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IQCK	KNOP1	Q1ED39	736
IQCK	GPRC5B	Q9NZH0	660
IQCK	EFCAB11	Q9BUY7	651
IQCK	MCTP1	Q6DN14	562
IQCK	CCDC150	Q8NCX0	514
IQCK	LRRC43	Q8N309	488
IQCK	ABCA7	Q8IZY2	474
IQCK	FAM181A	Q8N9Y4	463
IQCK	MAP4K3	Q8IVH8	456
IQCK	DTNA	Q9Y4J8	456
IQCK	FERMT2	Q96AC1	451
IQCK	MS4A6A	Q9H2W1	448
IQCK	ADAMTS1	Q9UHI8	447
IQCK	PICALM	Q13492	446
IQCK	TMEM160	Q9NX00	441

IntAct

0 interactions, top by confidence:

BioGRID (3): IQCK (Cross-Linking-MS (XL-MS)), IQCK (Affinity Capture-RNA), IQCK (Two-hybrid)

ESM2 similar proteins: A1A5Q7, A4D126, A4II32, A6NCI4, A8K8P3, A8MTL0, A8MYZ5, A9CB34, E0CYC6, F1QWK4, O14772, O15554, O89109, P0C7M6, P0C8N6, Q05AA6, Q08CB3, Q13474, Q1HAQ0, Q1LWG4, Q2M2U5, Q32KU4, Q3SYS7, Q3TFD2, Q3UVV9, Q4AC99, Q5I0I4, Q5R796, Q5RFS1, Q8BHD4, Q8BP00, Q8BPW0, Q8CB65, Q8CHT6, Q8IXL9, Q8K2I9, Q8N0W5, Q8N6M8, Q8NEA4, Q8NF37

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2642 predictions. Top by Δscore:

Variant	Effect	Δscore
16:19730428:A:AG	acceptor_gain	1.0000
16:19730429:G:GG	acceptor_gain	1.0000
16:19730429:GA:G	acceptor_gain	1.0000
16:19730493:CGG:C	donor_loss	1.0000
16:19730494:GGTG:G	donor_loss	1.0000
16:19730495:G:GA	donor_loss	1.0000
16:19730496:TGAG:T	donor_loss	1.0000
16:19730497:GA:G	donor_loss	1.0000
16:19730498:AGTAT:A	donor_loss	1.0000
16:19732937:G:GT	donor_gain	1.0000
16:19732937:G:T	donor_gain	1.0000
16:19733823:AACAT:A	donor_gain	1.0000
16:19733824:ACAT:A	donor_gain	1.0000
16:19733828:G:GG	donor_gain	1.0000
16:19733832:G:GG	donor_gain	1.0000
16:19764005:T:TA	acceptor_gain	1.0000
16:19764009:A:AG	acceptor_gain	1.0000
16:19764010:A:G	acceptor_gain	1.0000
16:19764014:A:G	acceptor_gain	1.0000
16:19764017:ATAT:A	acceptor_gain	1.0000
16:19764018:T:G	acceptor_gain	1.0000
16:19827024:A:AG	acceptor_gain	1.0000
16:19827025:G:GG	acceptor_gain	1.0000
16:19827025:GGTTC:G	acceptor_gain	1.0000
16:19827133:AAAAG:A	donor_gain	1.0000
16:19827134:AAAG:A	donor_gain	1.0000
16:19827134:AAAGG:A	donor_loss	1.0000
16:19827135:AAG:A	donor_gain	1.0000
16:19827136:AG:A	donor_gain	1.0000
16:19827137:GG:G	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000008565 (16:19778588 T>C,G), RS1000014203 (16:19754741 G>A,T), RS1000045238 (16:19754490 C>G), RS1000053650 (16:19816139 G>A), RS1000075448 (16:19771452 T>G), RS1000078261 (16:19815441 A>G), RS1000082817 (16:19760957 A>G), RS1000101254 (16:19717218 T>A), RS1000144664 (16:19820428 T>C), RS1000185495 (16:19720943 C>T), RS1000190358 (16:19827587 A>G), RS1000213118 (16:19767840 A>G), RS1000223153 (16:19827873 T>C), RS1000238056 (16:19784223 T>C), RS1000245920 (16:19767614 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

10 associations (top):

Study	Trait	p-value
GCST000830_17	Body mass index	3.000000e-21
GCST007511_1	Alzheimer’s disease (late onset)	2.000000e-08
GCST008129_83	Body mass index	4.000000e-13
GCST008151_72	Waist circumference	2.000000e-10
GCST008155_53	Waist-hip ratio	4.000000e-06
GCST008160_28	Waist circumference	2.000000e-10
GCST011421_1	Diastolic blood pressure (education interaction)	4.000000e-07
GCST011421_2	Diastolic blood pressure (education interaction)	4.000000e-07
GCST011423_1	Diastolic blood pressure	3.000000e-06
GCST011423_2	Diastolic blood pressure	3.000000e-06

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:1001870	late-onset Alzheimers disease
EFO:0004343	waist-hip ratio
EFO:0006336	diastolic blood pressure
EFO:0011015	educational attainment

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	5
Cyclosporine	decreases expression, increases expression	3
Resveratrol	affects cotreatment, decreases expression	2
Arsenic	decreases expression, increases abundance, affects cotreatment	2
Tretinoin	decreases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
TAK-243	increases sumoylation	1
methylmercuric chloride	decreases expression	1
sodium arsenate	decreases expression, increases abundance	1
trichostatin A	increases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
nickel sulfate	increases expression	1
beta-methylcholine	affects expression	1
ICG 001	decreases expression	1
Sunitinib	increases expression	1
Vorinostat	increases expression	1
Acetaminophen	decreases expression	1
Atrazine	decreases expression	1
Cisplatin	decreases expression	1
Coumestrol	decreases expression, affects cotreatment	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Methyl Methanesulfonate	increases expression	1
Selenium	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tunicamycin	increases expression	1
Urethane	decreases expression	1

Clinical trials (associated diseases)

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