KLHL36

protein-coding

kelch like family member 36, the group of Kelch like|BTB domain containing

Gene summary

Enables cullin family protein binding activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C16orf44

MANE transcript

NM_024731.4

Inheritance

—

ClinVar variants

U:132B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.17

Max pathogenic AF

—

Genomic locus

chr16:84,648,511-84,667,686

External References & Databases

Ensembl (ENSG00000135686)

Transcript & Mutation Effects

hg38 • Region Span ~19.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to KLHL36 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 135

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024731.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	4 clinvar		6
missense			128 clinvar	6 clinvar		134
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	132	10	0	142

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024731.4	RefSeq	NP_079007.2	4	MANE Select
ENST00000564996.6	Ensembl	ENSP00000456743.1	4	MANE Select
NM_001303451.2	RefSeq	NP_001290380.1	3	Standard
ENST00000258157.10	Ensembl	ENSP00000258157.5	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein ubiquitination

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000564996
Coding exons: 4
Length: 19162
Individuals with no LoFs: 125664
Homozygous LoFs: 0
Heterozygous LoFs: 13
Defined: 125677
p: 0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.12	377	443	0.851	0.0000329	3983
Missense (PolyPhen)		103	159.89	0.6442		1528
Synonymous	-2.63	261	212	1.23	0.0000174	1236
Loss of Function	3.67	4	23.0	0.174	0.00000107	238

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000055	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000045	0.000044	rare
South Asian	0	0.0	absent
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable substrate-specific adapter of an E3 ubiquitin- protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. {ECO:0000269|PubMed:14528312}.;

Intolerance Scores

LoFtool: 0.0954
RVIS EVS: -1.68
RVIS percentile EVS: 2.65

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.288

Gene Damage Prediction

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