IQCC

Summary

IQCC (IQ motif containing C, HGNC:25545) is a protein-coding gene on chromosome 1p35.2, encoding IQ domain-containing protein C (Q4KMZ1).

At a glance

• Clinical variants (ClinVar): 98 total
• MANE Select transcript: NM_018134

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25545
Approved symbol	IQCC
Name	IQ motif containing C
Location	1p35.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10547
Ensembl gene	ENSG00000160051
Ensembl biotype	protein_coding
Entrez	55721

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron

ENST00000291358, ENST00000537469, ENST00000617816, ENST00000931245, ENST00000931246, ENST00000931247, ENST00000962760

RefSeq mRNA: 2 — MANE Select: NM_018134 NM_001160042, NM_018134

CCDS: CCDS355, CCDS53293

Canonical transcript exons

ENST00000291358 — 5 exons

Exon	Start	End
ENSE00001049465	32206154	32206297
ENSE00001049466	32207002	32207120
ENSE00001049467	32206509	32206761
ENSE00001460998	32205671	32205723
ENSE00003747330	32207240	32208682

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 94.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.6080 / max 81.2498, expressed in 1500 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
1959	5.6080	1500

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
vena cava	UBERON:0004087	94.72	gold quality
olfactory bulb	UBERON:0002264	94.40	gold quality
type B pancreatic cell	CL:0000169	93.67	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	91.49	gold quality
cerebellar vermis	UBERON:0004720	91.31	silver quality
body of tongue	UBERON:0011876	90.69	gold quality
diaphragm	UBERON:0001103	89.05	gold quality
tongue squamous epithelium	UBERON:0006919	88.80	gold quality
tongue	UBERON:0001723	88.27	gold quality
pons	UBERON:0000988	88.24	gold quality
subthalamic nucleus	UBERON:0001906	88.07	gold quality
parotid gland	UBERON:0001831	87.94	gold quality
dorsal plus ventral thalamus	UBERON:0001897	87.93	gold quality
myocardium	UBERON:0002349	87.76	gold quality
trachea	UBERON:0003126	87.53	gold quality
left ventricle myocardium	UBERON:0006566	87.23	gold quality
inferior vagus X ganglion	UBERON:0005363	87.11	gold quality
pylorus	UBERON:0001166	86.94	gold quality
pharyngeal mucosa	UBERON:0000355	86.80	gold quality
lateral nuclear group of thalamus	UBERON:0002736	86.59	gold quality
nasal cavity epithelium	UBERON:0005384	86.55	gold quality
pericardium	UBERON:0002407	86.50	gold quality
vastus lateralis	UBERON:0001379	86.24	gold quality
superior surface of tongue	UBERON:0007371	86.00	gold quality
male germ cell	CL:0000015	85.72	gold quality
medulla oblongata	UBERON:0001896	85.69	gold quality
cardia of stomach	UBERON:0001162	85.61	gold quality
inferior olivary complex	UBERON:0002127	85.59	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	85.52	gold quality
cervix squamous epithelium	UBERON:0006922	85.49	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting IQCC, 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-4267	99.96	66.53	2368
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-449B-3P	99.20	67.24	1047
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-6754-5P	98.60	65.54	1627
HSA-MIR-6883-3P	97.97	67.35	643
HSA-MIR-6890-3P	97.50	65.71	997
HSA-MIR-3137	97.26	66.78	761
HSA-MIR-874-5P	96.93	63.92	1014
HSA-MIR-4256	96.22	67.70	669
HSA-MIR-11181-5P	96.12	67.46	665

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	iqcc	ENSDARG00000092483
mus_musculus	Iqcc	ENSMUSG00000040795
rattus_norvegicus	Iqcc	ENSRNOG00000048553

Protein

Protein identifiers

IQ domain-containing protein C — Q4KMZ1 (reviewed: Q4KMZ1)

All UniProt accessions (1): Q4KMZ1

UniProt curated annotations — full annotation on UniProt →

Isoforms (3)

UniProt ID	Names	Canonical?
Q4KMZ1-1	1	yes
Q4KMZ1-2	2
Q4KMZ1-3	3

RefSeq proteins (2): NP_001153514, NP_060604* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR042506	IQCC	Family

UniProt features (16 total): region of interest 4, sequence variant 3, compositionally biased region 3, splice variant 2, chain 1, domain 1, sequence conflict 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q4KMZ1-F1	51.93	0.14

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 (1): 438

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 60 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GAVIN_FOXP3_TARGETS_CLUSTER_P2, chr1p35, GEORGES_TARGETS_OF_MIR192_AND_MIR215, RAY_TUMORIGENESIS_BY_ERBB2_CDC25A_DN, TOYOTA_TARGETS_OF_MIR34B_AND_MIR34C, MARTENS_TRETINOIN_RESPONSE_DN, WAKABAYASHI_ADIPOGENESIS_PPARG_BOUND_8D, PRC2_EZH2_UP.V1_DN, NOTCH_DN.V1_UP, ARNT2_TARGET_GENES, DIDO1_TARGET_GENES, FEV_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

330 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IQCC	PROSER3	Q2NL68	645
IQCC	SDF2L1	Q9HCN8	534
IQCC	CCDC9B	Q6ZUT6	507
IQCC	PELI3	Q8N2H9	489
IQCC	MRNIP	Q6NTE8	479
IQCC	NAV1	Q8NEY1	479
IQCC	ZNF396	Q96N95	445
IQCC	CPAMD8	Q8IZJ3	423
IQCC	DLGAP5	Q15398	392
IQCC	KIF25	Q9UIL4	392
IQCC	ETNK2	Q9NVF9	385
IQCC	KIF17	Q9P2E2	376
IQCC	KCNA10	Q16322	372
IQCC	FEZ2	Q9UHY8	366
IQCC	ZNF69	Q9UC07	354

IntAct

21 interactions, top by confidence:

A	B	Type	Score
KEAP1	IQCC	psi-mi:“MI:0915”(physical association)	0.560
PROSER3	IQCC	psi-mi:“MI:0915”(physical association)	0.560
HSF2BP	IQCC	psi-mi:“MI:0915”(physical association)	0.560
IQCC	CCHCR1	psi-mi:“MI:0915”(physical association)	0.560
IQCC	HSPA5	psi-mi:“MI:0915”(physical association)	0.400
IQCC	CCHCR1	psi-mi:“MI:0915”(physical association)	0.400
CCHCR1	IQCC	psi-mi:“MI:0915”(physical association)	0.400
M		psi-mi:“MI:0914”(association)	0.350
rep	SBNO1	psi-mi:“MI:0914”(association)	0.350
PIP	RBM47	psi-mi:“MI:0914”(association)	0.350
IQCC	KEAP1	psi-mi:“MI:0915”(physical association)	0.000
IQCC	PROSER3	psi-mi:“MI:0915”(physical association)	0.000
IQCC	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
IQCC	CCHCR1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (18): CCHCR1 (Affinity Capture-MS), IQCC (Proximity Label-MS), IQCC (Two-hybrid), HSF2BP (Two-hybrid), PROSER3 (Two-hybrid), CCHCR1 (Two-hybrid), IQCC (Proximity Label-MS), IQCC (Proximity Label-MS), IQCC (Proximity Label-MS), IQCC (Proximity Label-MS), IQCC (Affinity Capture-MS), IQCC (Proximity Label-MS), IQCC (Proximity Label-MS), IQCC (Affinity Capture-MS), CCHCR1 (Affinity Capture-MS)

ESM2 similar proteins: A2ADZ8, A6NNH2, D2J0Y4, D3YU32, P0C2Y1, Q0VET5, Q12802, Q14676, Q149B8, Q283Q6, Q2TBI7, Q3KR64, Q3U0P1, Q4KMZ1, Q4R736, Q5QJ38, Q5R5G4, Q5T1N1, Q5TM68, Q5VWK0, Q5VYM1, Q5ZK13, Q68A65, Q6AZ54, Q6NXZ1, Q6PG16, Q6PIX9, Q7YR40, Q7Z572, Q86Y26, Q8BHP2, Q8BHW6, Q8C0D9, Q8C5V8, Q8C9M2, Q8CGM2, Q8N5Q1, Q8NCD3, Q8WP21, Q924C5

Diamond homologs: A2ADZ8, Q2TBI7, Q4KMZ1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	75
Likely benign	14
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

473 predictions. Top by Δscore:

Variant	Effect	Δscore
1:32206293:CAGAG:C	donor_loss	1.0000
1:32206294:AGAG:A	donor_loss	1.0000
1:32206295:GAG:G	donor_gain	1.0000
1:32206295:GAGG:G	donor_loss	1.0000
1:32206296:AGG:A	donor_loss	1.0000
1:32206297:GGT:G	donor_loss	1.0000
1:32206299:T:A	donor_loss	1.0000
1:32206758:CCAG:C	donor_loss	1.0000
1:32206760:AG:A	donor_loss	1.0000
1:32206761:GG:G	donor_loss	1.0000
1:32206762:G:GA	donor_loss	1.0000
1:32206998:A:AG	acceptor_gain	1.0000
1:32206999:C:G	acceptor_gain	1.0000
1:32206999:CA:C	acceptor_loss	1.0000
1:32207000:A:AG	acceptor_gain	1.0000
1:32207000:A:G	acceptor_loss	1.0000
1:32207001:G:GA	acceptor_gain	1.0000
1:32207001:GA:G	acceptor_gain	1.0000
1:32207001:GAA:G	acceptor_gain	1.0000
1:32207001:GAAGC:G	acceptor_gain	1.0000
1:32207110:GCC:G	donor_gain	1.0000
1:32207113:G:GG	donor_gain	1.0000
1:32207117:GGAG:G	donor_gain	1.0000
1:32207118:G:GT	donor_gain	1.0000
1:32207120:GGT:G	donor_loss	1.0000
1:32207238:A:AG	acceptor_gain	1.0000
1:32207239:G:GA	acceptor_gain	1.0000
1:32207239:GT:G	acceptor_gain	1.0000
1:32207239:GTA:G	acceptor_gain	1.0000
1:32207239:GTAC:G	acceptor_gain	1.0000

AlphaMissense

3039 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:32207088:T:A	W176R	0.989
1:32207088:T:C	W176R	0.989
1:32206256:T:A	W49R	0.987
1:32206256:T:C	W49R	0.987
1:32206258:G:C	W49C	0.986
1:32206258:G:T	W49C	0.986
1:32207100:G:C	A180P	0.984
1:32207109:A:C	S183R	0.983
1:32207111:C:A	S183R	0.983
1:32207111:C:G	S183R	0.983
1:32206286:T:C	F59L	0.982
1:32206288:C:A	F59L	0.982
1:32206288:C:G	F59L	0.982
1:32206208:T:C	Y33H	0.980
1:32207090:G:C	W176C	0.977
1:32207090:G:T	W176C	0.977
1:32207080:A:T	E173V	0.976
1:32207112:C:A	R184S	0.976
1:32207092:T:C	L177P	0.972
1:32207117:G:C	K185N	0.972
1:32207117:G:T	K185N	0.972
1:32206209:A:C	Y33S	0.971
1:32207240:T:C	Y187H	0.969
1:32206166:G:C	G19R	0.965
1:32207078:G:A	M172I	0.964
1:32207078:G:C	M172I	0.964
1:32207078:G:T	M172I	0.964
1:32207113:G:C	R184P	0.964
1:32207083:T:C	L174S	0.962
1:32207098:A:C	Q179P	0.962

dbSNP variants (sampled 300 via entrez): RS1000383939 (1:32204373 T>A,C), RS1000506821 (1:32208946 A>G), RS1000797794 (1:32203708 C>T), RS1001100101 (1:32203994 G>A), RS1001436545 (1:32205511 C>A,G,T), RS1003732344 (1:32207097 C>T), RS1004002904 (1:32206634 G>C), RS1004505457 (1:32203670 A>G), RS1005140258 (1:32208310 G>A), RS1005268050 (1:32208999 G>A,C), RS1007040983 (1:32206049 G>A), RS1007241504 (1:32206538 A>G), RS1007316986 (1:32207876 A>C), RS1008010824 (1:32208881 A>G), RS1009039658 (1:32208593 G>A)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects cotreatment, decreases expression, increases abundance	2
Aflatoxin B1	increases expression, increases methylation	2
GSK-J4	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
ferrous chloride	decreases expression	1
abrine	increases expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Arsenic	increases abundance, affects cotreatment, decreases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Methyl Methanesulfonate	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Copper Sulfate	decreases expression	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

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