IL34

interleukin 34, the group of Interleukins

Basic information

Region (hg38): 16:70579895-70660682

Previous symbols: [ "C16orf77" ]

Links

ENSG00000157368 ∙ NCBI:146433 ∙ OMIM:612081 ∙ HGNC:28529 ∙ Uniprot:Q6ZMJ4 ∙ 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 IL34 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL34 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	2	3
missense			10	3		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	10	4	2

Variants in IL34

This is a list of pathogenic ClinVar variants found in the IL34 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-70646954-C-T		not specified	Uncertain significance (Feb 27, 2024)
16-70654556-G-C			Likely benign (Apr 10, 2018)
16-70654610-A-G		not specified	Uncertain significance (Jul 25, 2023)
16-70654658-G-A		not specified	Uncertain significance (Mar 13, 2023)
16-70656608-T-C		IL34-related disorder	Likely benign (Feb 01, 2022)
16-70656662-G-A		not specified	Uncertain significance (Apr 18, 2023)
16-70656955-C-T			Benign (Jan 25, 2018)
16-70656981-C-T		not specified	Uncertain significance (Mar 30, 2024)
16-70657007-G-C		not specified	Uncertain significance (Dec 13, 2022)
16-70657041-G-A		not specified	Uncertain significance (May 20, 2024)
16-70657083-G-A		not specified	Uncertain significance (Oct 24, 2023)
16-70659640-T-C		not specified	Uncertain significance (Sep 06, 2022)
16-70659648-G-A		not specified	Uncertain significance (Jan 17, 2023)
16-70659677-A-G			Benign (Jun 14, 2018)
16-70659683-G-A		IL34-related disorder	Likely benign (Jun 22, 2021)
16-70659729-A-T		not specified	Uncertain significance (Sep 14, 2022)
16-70660067-C-T			Benign (Apr 10, 2018)
16-70660104-C-T		not specified	Uncertain significance (Oct 25, 2023)
16-70660153-C-T		IL34-related disorder	Likely benign (Feb 09, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL34	protein_coding	protein_coding	ENST00000429149	6	80788

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.554	0.443	125741	0	7	125748	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.769	169	143	1.18	0.00000889	1534
Missense in Polyphen		38	44.591	0.85219		527
Synonymous	-0.538	76	70.3	1.08	0.00000481	497
Loss of Function	2.51	2	11.0	0.182	5.49e-7	120

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000468	0.0000439
Middle Eastern	0.00	0.00
South Asian	0.0000656	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cytokine that promotes the proliferation, survival and differentiation of monocytes and macrophages. Promotes the release of proinflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, and in the regulation of bone resorption. Signaling via CSF1R and its downstream effectors stimulates phosphorylation of MAPK1/ERK2 AND MAPK3/ERK1. {ECO:0000269|PubMed:18467591, ECO:0000269|PubMed:20489731, ECO:0000269|PubMed:20504948, ECO:0000269|PubMed:20829061}.
• Pathway: Other interleukin signaling;Signaling by Interleukins;Cytokine Signaling in Immune system;Immune System (Consensus)

Recessive Scores

• pRec: 0.0723

Intolerance Scores

• loftool: 0.418
• rvis_EVS: 0.84
• rvis_percentile_EVS: 88.36

Haploinsufficiency Scores

• pHI: 0.239
• hipred: N
• hipred_score: 0.287
• ghis: 0.431

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.285

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il34
• Phenotype: cellular phenotype; immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: positive regulation of protein phosphorylation;inflammatory response;positive regulation of cell population proliferation;regulation of signaling receptor activity;cytokine-mediated signaling pathway;innate immune response;positive regulation of macrophage differentiation;positive regulation of monocyte differentiation
• Cellular component: extracellular region;extracellular space
• Molecular function: cytokine activity;macrophage colony-stimulating factor receptor binding;growth factor activity