IQCG

IQ motif containing G, the group of Cilia and flagella associated|Dynein regulatory complex

Basic information

Region (hg38): 3:197889076-197960142

Links

ENSG00000114473 ∙ NCBI:84223 ∙ OMIM:612477 ∙ HGNC:25251 ∙ Uniprot:Q9H095 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IQCG gene.

• Diamond-Blackfan anemia 5 (78 variants)
• Inborn genetic diseases (17 variants)
• not provided (14 variants)
• Diamond-Blackfan anemia (13 variants)
• not specified (3 variants)
• RPL35A-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IQCG gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			12	5	1	18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	4	3	34	45	6	92
Total	4	3	46	50	8

Variants in IQCG

This is a list of pathogenic ClinVar variants found in the IQCG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-197889680-C-T		not specified	Likely benign (Jan 03, 2022)
3-197892642-C-T		not specified	Uncertain significance (Feb 28, 2023)
3-197912700-T-G			Benign (Jun 18, 2018)
3-197913990-G-A		not specified	Uncertain significance (May 26, 2022)
3-197914000-C-T		not specified	Uncertain significance (Sep 29, 2023)
3-197932219-C-A		not specified	Uncertain significance (Jan 03, 2024)
3-197932235-G-C		not specified	Uncertain significance (Mar 23, 2023)
3-197932263-C-A		not specified	Uncertain significance (Apr 28, 2022)
3-197932286-C-T		not specified	Uncertain significance (Mar 05, 2024)
3-197938572-G-C		not specified	Uncertain significance (Oct 06, 2022)
3-197938575-T-C		not specified	Uncertain significance (Nov 12, 2021)
3-197938620-T-C		not specified	Uncertain significance (Jul 15, 2021)
3-197938639-C-T		not specified	Uncertain significance (Jun 30, 2022)
3-197938672-G-C		not specified	Uncertain significance (Aug 15, 2023)
3-197938696-T-C		not specified	Uncertain significance (Jul 19, 2023)
3-197938732-T-C		not specified	Likely benign (Feb 15, 2023)
3-197938748-A-C		not specified	Uncertain significance (Feb 09, 2022)
3-197938764-T-C		not specified	Uncertain significance (Dec 12, 2023)
3-197943780-C-T		not specified	Likely benign (Apr 19, 2023)
3-197943835-G-C			Benign (Jun 18, 2018)
3-197943911-G-A		not specified	Likely benign (Aug 30, 2021)
3-197943963-C-T		not specified	Uncertain significance (Mar 07, 2024)
3-197943981-C-T		not specified	Likely benign (Sep 06, 2022)
3-197944050-C-T		not specified	Uncertain significance (Jan 25, 2023)
3-197950217-T-G		Diamond-Blackfan anemia 5	Uncertain significance (Jan 12, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IQCG	protein_coding	protein_coding	ENST00000265239	10	71068

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.02e-21	0.000150	125685	0	62	125747	0.000247

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.352	222	237	0.936	0.0000126	2976
Missense in Polyphen		48	43.502	1.1034		589
Synonymous	0.196	82	84.3	0.973	0.00000519	757
Loss of Function	-1.14	28	22.2	1.26	9.49e-7	285

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000734	0.000730
Ashkenazi Jewish	0.00	0.00
East Asian	0.000220	0.000217
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000264	0.000264
Middle Eastern	0.000220	0.000217
South Asian	0.000261	0.000261
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the nexin-dynein regulatory complex (N- DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Binds calmodulin when cellular Ca(2+) levels are low and thereby contributes to the regulation of calcium and calmodulin-dependent protein kinase IV (CAMK4) activity; contributes to the regulation of CAMK4 signaling cascades. Required for normal axoneme assembly in sperm flagella, normal sperm tail formation and for male fertility. {ECO:0000250|UniProtKB:A3KQH2, ECO:0000250|UniProtKB:A8HQ54, ECO:0000250|UniProtKB:Q80W32}.

Recessive Scores

• pRec: 0.0719

Intolerance Scores

• loftool: 0.990
• rvis_EVS: -0.02
• rvis_percentile_EVS: 52.09

Haploinsufficiency Scores

• pHI: 0.0728
• hipred: N
• hipred_score: 0.123
• ghis: 0.457

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.982

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Iqcg
• Phenotype: cellular phenotype; reproductive system phenotype

Zebrafish Information Network

• Gene name: iqcg
• Affected structure: neutrophil
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: spermatid development;sperm axoneme assembly;cilium organization
• Cellular component: manchette;cytoplasm;motile cilium;sperm flagellum;extracellular exosome
• Molecular function: calmodulin binding;Hsp70 protein binding