IQCF2

Summary

IQCF2 (IQ motif containing F2, HGNC:31815) is a protein-coding gene on chromosome 3p21.2, encoding IQ domain-containing protein F2 (Q8IXL9).

Predicted to enable calmodulin binding activity.

Source: NCBI Gene 389123 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 22 total
• MANE Select transcript: NM_203424

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31815
Approved symbol	IQCF2
Name	IQ motif containing F2
Location	3p21.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000184345
Ensembl biotype	protein_coding
Entrez	389123

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000333127, ENST00000429548

RefSeq mRNA: 1 — MANE Select: NM_203424 NM_203424

CCDS: CCDS2835

Canonical transcript exons

ENST00000333127 — 3 exons

Exon	Start	End
ENSE00001292527	51861615	51861684
ENSE00001306247	51862987	51863424
ENSE00003617121	51861858	51861950

Expression profiles

Bgee: expression breadth broad, 31 present calls, max score 94.83.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0190 / max 20.7499, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
36784	0.0190	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	94.83	gold quality
right testis	UBERON:0004534	94.74	gold quality
sperm	CL:0000019	93.87	gold quality
testis	UBERON:0000473	91.52	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.92	gold quality
adult organism	UBERON:0007023	78.91	gold quality
cartilage tissue	UBERON:0002418	60.55	gold quality
myocardium	UBERON:0002349	58.94	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	56.25	gold quality
pancreatic ductal cell	CL:0002079	55.24	silver quality
tibialis anterior	UBERON:0001385	55.10	silver quality
buccal mucosa cell	CL:0002336	55.01	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
epithelial cell of pancreas	CL:0000083	54.07	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
ileal mucosa	UBERON:0000331	52.81	silver quality
tendon of biceps brachii	UBERON:0008188	52.29	gold quality
cerebellar vermis	UBERON:0004720	51.71	gold quality
Brodmann (1909) area 46	UBERON:0006483	51.13	gold quality
quadriceps femoris	UBERON:0001377	50.28	gold quality
deltoid	UBERON:0001476	50.15	gold quality
vastus lateralis	UBERON:0001379	49.35	gold quality
lateral globus pallidus	UBERON:0002476	48.96	gold quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
lateral nuclear group of thalamus	UBERON:0002736	46.96	gold quality
amniotic fluid	UBERON:0000173	45.22	gold quality
bronchial epithelial cell	CL:0002328	45.06	gold quality
bronchus	UBERON:0002185	44.81	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.14

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (4): IQCF1 (ENSG00000173389), IQCF5 (ENSG00000214681), IQCF6 (ENSG00000214686), IQCF3 (ENSG00000229972)

Protein

Protein identifiers

IQ domain-containing protein F2 — Q8IXL9 (reviewed: Q8IXL9)

All UniProt accessions (1): Q8IXL9

RefSeq proteins (1): NP_982248* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR039887	IQCF	Family

Pfam: PF00612

UniProt features (3 total): domain 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IXL9-F1	89.48	0.67

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 6 (showing top): chr3p21, MAFG_TARGET_GENES, TERF2_TARGET_GENES, GSE2706_R848_VS_LPS_2H_STIM_DC_UP, TTCYNRGAA_STAT5B_01, GOMF_CALMODULIN_BINDING

GO Biological Process (0):

GO Molecular Function (2): calmodulin binding (GO:0005516), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	1
binding	1

Protein interactions and networks

STRING

120 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IQCF2	EFCAB3	Q8N7B9	674
IQCF2	KRTAP10-11	P60412	444
IQCF2	HAPLN2	Q9GZV7	414
IQCF2	SLC13A1	Q9BZW2	390
IQCF2	KRTAP10-1	P60331	380
IQCF2	GAGE12B	A1L429	357
IQCF2	POTEG	Q6S5H5	349
IQCF2	XAGE5	Q8WWM1	348
IQCF2	GSTM5	P46439	321
IQCF2	PARP3	Q9Y6F1	290
IQCF2	SLC14A2	Q15849	275
IQCF2	CFHR1	Q03591	275
IQCF2	UNC5CL	Q8IV45	270
IQCF2	MASP2	O00187	256
IQCF2	SLC22A2	O15244	253

IntAct

21 interactions, top by confidence:

A	B	Type	Score
IQCF2	LONRF1	psi-mi:“MI:0915”(physical association)	0.560
LONRF1	IQCF2	psi-mi:“MI:0915”(physical association)	0.560
IQCF2	GRN	psi-mi:“MI:0915”(physical association)	0.560
IQCF2	PRPS1	psi-mi:“MI:0915”(physical association)	0.560
IQCF2	WFS1	psi-mi:“MI:0915”(physical association)	0.560
IQCF2	KIF1B	psi-mi:“MI:0915”(physical association)	0.560
IQCF2	RNF11	psi-mi:“MI:0915”(physical association)	0.560
IQCF2	TRAFD1	psi-mi:“MI:0914”(association)	0.350
IQCF2	CETN3	psi-mi:“MI:0914”(association)	0.350

BioGRID (24): IQCF2 (Two-hybrid), IQCF2 (Affinity Capture-MS), STIL (Affinity Capture-MS), PASK (Affinity Capture-MS), TRAFD1 (Affinity Capture-MS), CST8 (Affinity Capture-MS), HERC1 (Affinity Capture-MS), TAX1BP1 (Affinity Capture-MS), PRKAR1B (Affinity Capture-MS), AKAP11 (Affinity Capture-MS), RNF31 (Affinity Capture-MS), TUBA1A (Affinity Capture-MS), BIRC6 (Affinity Capture-MS), MDM2 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS)

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

Diamond homologs: A8MTL0, A8MYZ5, P0C7M6, Q2M2U5, Q32KU4, Q3SYS7, Q6AXX0, Q8IXL9, Q8N6M8, Q9D498, Q9D9K8, Q9DAL7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	20
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

373 predictions. Top by Δscore:

Variant	Effect	Δscore
3:51861947:CAAG:C	donor_loss	0.9900
3:51861948:AAGG:A	donor_loss	0.9900
3:51861949:AGGT:A	donor_loss	0.9900
3:51861950:GGT:G	donor_loss	0.9900
3:51861951:G:T	donor_loss	0.9900
3:51861952:T:A	donor_loss	0.9900
3:51862982:CCTA:C	acceptor_loss	0.9700
3:51862983:CTAG:C	acceptor_loss	0.9700
3:51862984:TA:T	acceptor_loss	0.9700
3:51862986:G:GC	acceptor_loss	0.9700
3:51862985:A:AG	acceptor_gain	0.9600
3:51862986:G:GG	acceptor_gain	0.9600
3:51862986:GGAA:G	acceptor_gain	0.9500
3:51862986:GGAAA:G	acceptor_gain	0.9500
3:51862854:C:A	donor_gain	0.9400
3:51862885:G:GT	donor_gain	0.9400
3:51861951:G:GG	donor_gain	0.9300
3:51862822:G:GT	donor_gain	0.9100
3:51862852:G:GG	donor_gain	0.9100
3:51862986:GGA:G	acceptor_gain	0.9100
3:51862984:TAGGA:T	acceptor_gain	0.8900
3:51862985:AG:A	acceptor_gain	0.8900
3:51862985:AGGAA:A	acceptor_gain	0.8900
3:51862986:GG:G	acceptor_gain	0.8900
3:51862851:A:AG	donor_gain	0.8800
3:51862823:A:T	donor_gain	0.8700
3:51861844:A:AG	acceptor_gain	0.8600
3:51861778:T:TA	donor_gain	0.8500
3:51861779:A:AA	donor_gain	0.8500
3:51861888:G:GC	acceptor_gain	0.8400

AlphaMissense

1068 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:51863035:T:A	W54R	0.923
3:51863035:T:C	W54R	0.923
3:51863344:T:C	F157L	0.923
3:51863346:C:A	F157L	0.923
3:51863346:C:G	F157L	0.923
3:51863104:T:A	W77R	0.917
3:51863104:T:C	W77R	0.917
3:51863039:G:C	R55P	0.910
3:51863211:G:A	M112I	0.905
3:51863211:G:C	M112I	0.905
3:51863211:G:T	M112I	0.905
3:51863108:G:C	R78P	0.888
3:51863212:T:A	W113R	0.885
3:51863212:T:C	W113R	0.885
3:51863207:G:C	R111P	0.883
3:51863029:G:C	A52P	0.882
3:51863106:G:C	W77C	0.881
3:51863106:G:T	W77C	0.881
3:51863054:G:C	R60P	0.873
3:51863248:G:C	A125P	0.871
3:51863032:T:A	W53R	0.870
3:51863032:T:C	W53R	0.870
3:51863071:G:C	A66P	0.866
3:51863028:G:C	Q51H	0.864
3:51863028:G:T	Q51H	0.864
3:51863041:G:C	G56R	0.863
3:51863345:T:C	F157S	0.859
3:51863053:C:A	R60S	0.857
3:51863196:G:C	Q107H	0.857
3:51863196:G:T	Q107H	0.857

dbSNP variants (sampled 300 via entrez): RS1000763602 (3:51861248 C>G,T), RS1001193861 (3:51863625 C>G), RS1003611610 (3:51859985 T>C), RS1003663919 (3:51859684 A>G), RS1004055641 (3:51862619 G>C), RS1004941914 (3:51860863 G>A,T), RS1005056680 (3:51861148 G>A,C), RS1005494552 (3:51862154 C>A), RS1008077072 (3:51861864 G>A), RS1009134106 (3:51860195 T>C), RS1012247898 (3:51860911 G>A), RS1012470623 (3:51860005 G>C), RS1012774607 (3:51861173 G>T), RS1012833287 (3:51860407 C>T), RS1015353811 (3:51862332 A>G)

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

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1

Clinical trials (associated diseases)

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