IQCF6

Summary

IQCF6 (IQ motif containing F6, HGNC:35158) is a protein-coding gene on chromosome 3p21.2, encoding IQ domain-containing protein F6 (A8MYZ5).

Predicted to enable calmodulin binding activity.

Source: NCBI Gene 440956 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 20 total
• MANE Select transcript: NM_001368369

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:35158
Approved symbol	IQCF6
Name	IQ motif containing F6
Location	3p21.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000214686
Ensembl biotype	protein_coding
Entrez	440956

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000398780, ENST00000647442, ENST00000667863, ENST00000668964

RefSeq mRNA: 3 — MANE Select: NM_001368369 NM_001143833, NM_001368368, NM_001368369

CCDS: CCDS54590, CCDS93280, CCDS93281

Canonical transcript exons

ENST00000667863 — 2 exons

Exon	Start	End
ENSE00003814583	51778563	51778991
ENSE00003863118	51779153	51779237

Expression profiles

Bgee: expression breadth broad, 34 present calls, max score 97.24.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0040 / max 4.0598, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42367	0.0040	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	97.24	gold quality
sperm	CL:0000019	93.27	gold quality
left testis	UBERON:0004533	81.65	gold quality
right testis	UBERON:0004534	81.02	gold quality
testis	UBERON:0000473	78.86	gold quality
buccal mucosa cell	CL:0002336	65.39	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	64.24	gold quality
adult organism	UBERON:0007023	60.89	silver quality
myocardium	UBERON:0002349	59.91	gold quality
pericardium	UBERON:0002407	59.64	gold quality
tendon of biceps brachii	UBERON:0008188	58.21	gold quality
parotid gland	UBERON:0001831	57.70	gold quality
medial globus pallidus	UBERON:0002477	57.29	gold quality
vena cava	UBERON:0004087	56.54	gold quality
endothelial cell	CL:0000115	55.02	gold quality
trabecular bone tissue	UBERON:0002483	54.99	gold quality
cartilage tissue	UBERON:0002418	54.45	gold quality
nasal cavity epithelium	UBERON:0005384	54.40	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
mucosa of sigmoid colon	UBERON:0004993	54.20	gold quality
decidua	UBERON:0002450	54.00	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
epithelial cell of pancreas	CL:0000083	53.78	gold quality
globus pallidus	UBERON:0001875	53.62	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
colonic mucosa	UBERON:0000317	53.12	gold quality
deltoid	UBERON:0001476	52.85	gold quality
pancreatic ductal cell	CL:0002079	52.79	silver quality
quadriceps femoris	UBERON:0001377	52.40	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.31

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Iqcf6	ENSMUSG00000091129
rattus_norvegicus	Iqcf6	ENSRNOG00000042065

Paralogs (4): IQCF1 (ENSG00000173389), IQCF2 (ENSG00000184345), IQCF5 (ENSG00000214681), IQCF3 (ENSG00000229972)

Protein

Protein identifiers

IQ domain-containing protein F6 — A8MYZ5 (reviewed: A8MYZ5)

All UniProt accessions (4): A8MYZ5, A0A2R8Y4M9, A0A590UIX9, A0A590UJ54

RefSeq proteins (3): NP_001137305, NP_001355297, NP_001355298* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF00612

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MYZ5-F1	93.31	0.73

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 4 (showing top): ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, chr3p21, GSE29614_CTRL_VS_TIV_FLU_VACCINE_PBMC_2007_DN, 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

198 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IQCF6	FAM24A	A6NFZ4	612
IQCF6	PRR30	Q53SZ7	506
IQCF6	POC1A	Q8NBT0	494
IQCF6	CPXCR1	Q8N123	490
IQCF6	TMED6	Q8WW62	481
IQCF6	CSTL1	Q9H114	471
IQCF6	RNF148	Q8N7C7	453
IQCF6	CFAP53	Q96M91	449
IQCF6	XTBD1	Q96HQ2	447
IQCF6	NEMP1	O14524	428
IQCF6	PDCD2L	Q9BRP1	400
IQCF6	C9JR48	C9JR48	393
IQCF6	COG8	Q96MW5	380
IQCF6	ENTR1	Q96C92	370
IQCF6	MIGA1	Q8NAN2	370

IntAct

0 interactions, top by confidence:

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

90 predictions. Top by Δscore:

Variant	Effect	Δscore
3:51778992:C:CC	acceptor_gain	0.9800
3:51778988:CTAA:C	acceptor_gain	0.9700
3:51778989:TAA:T	acceptor_gain	0.9600
3:51778992:CT:C	acceptor_loss	0.9500
3:51778996:T:TC	acceptor_gain	0.9300
3:51779170:TACC:T	donor_loss	0.9300
3:51779172:C:CG	donor_loss	0.9300
3:51778990:AA:A	acceptor_gain	0.8900
3:51778996:T:C	acceptor_gain	0.8800
3:51779169:TTA:T	donor_gain	0.8400
3:51779170:TA:T	donor_gain	0.8400
3:51779168:ATTAC:A	donor_gain	0.8300
3:51779171:A:AT	donor_gain	0.8300
3:51779172:C:G	donor_gain	0.8300
3:51779167:CATTA:C	donor_gain	0.8200
3:51779173:C:G	donor_gain	0.8000
3:51778987:TCTA:T	acceptor_gain	0.7800
3:51779107:T:TA	donor_gain	0.7700
3:51778995:A:AC	acceptor_gain	0.7600
3:51779153:A:C	donor_gain	0.7300
3:51778995:A:C	acceptor_gain	0.7200
3:51779174:T:G	donor_gain	0.7000
3:51778990:AACT:A	acceptor_gain	0.6900
3:51778987:TCTAA:T	acceptor_gain	0.6800
3:51778988:CTAAC:C	acceptor_gain	0.6800
3:51778989:TAACT:T	acceptor_gain	0.6800
3:51778991:ACTGA:A	acceptor_gain	0.6800
3:51779151:A:AC	donor_gain	0.6700
3:51779152:C:CC	donor_gain	0.6700
3:51778992:C:A	acceptor_gain	0.6600

AlphaMissense

937 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:51778761:G:C	F62L	0.909
3:51778761:G:T	F62L	0.909
3:51778763:A:G	F62L	0.909
3:51778636:A:G	I104T	0.859
3:51778782:C:A	M55I	0.838
3:51778782:C:G	M55I	0.838
3:51778782:C:T	M55I	0.838
3:51778889:A:G	W20R	0.825
3:51778889:A:T	W20R	0.825
3:51778797:C:A	Q50H	0.818
3:51778797:C:G	Q50H	0.818
3:51778762:A:G	F62S	0.811
3:51778732:A:T	I72N	0.806
3:51778786:C:G	R54P	0.793
3:51778732:A:G	I72T	0.791
3:51778900:A:G	I16T	0.785
3:51778887:C:A	W20C	0.781
3:51778887:C:G	W20C	0.781
3:51778741:G:T	A69D	0.775
3:51778900:A:T	I16N	0.775
3:51778732:A:C	I72S	0.770
3:51778796:C:G	A51P	0.763
3:51778636:A:C	I104S	0.757
3:51778900:A:C	I16S	0.722
3:51778728:C:A	Q73H	0.721
3:51778728:C:G	Q73H	0.721
3:51778896:C:A	Q17H	0.716
3:51778896:C:G	Q17H	0.716
3:51778721:A:G	W76R	0.709
3:51778721:A:T	W76R	0.709

dbSNP variants (sampled 300 via entrez): RS1001241308 (3:51780032 G>A,T), RS1001460599 (3:51780154 C>T), RS1002468022 (3:51779042 C>A,T), RS1002597987 (3:51778440 G>A,C), RS1003603513 (3:51779827 CT>C,CTT,CTTT), RS1003657258 (3:51780217 C>T), RS1003903787 (3:51779337 G>A), RS1004879865 (3:51780743 T>G), RS1005309494 (3:51779439 G>A), RS1005383013 (3:51779714 T>C), RS1005475034 (3:51780350 TC>T), RS1006428912 (3:51778536 A>C,G), RS1006719545 (3:51781078 G>A), RS1007000785 (3:51780622 A>C,G,T), RS1007931047 (3:51778121 C>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

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Valproic Acid	increases methylation	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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