INKA2

protein-coding

inka box actin regulator 2

Gene summary

Enables protein kinase binding activity. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C1orf183
FAM212B

MANE transcript

NM_019099.5

Inheritance

—

ClinVar variants

U:61B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.46

Max pathogenic AF

—

Genomic locus

chr1:111,680,630-111,755,824

External References & Databases

Ensembl (ENSG00000197852)

Transcript & Mutation Effects

hg38 • Region Span ~75.2 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 INKA2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 63

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_019099.5. 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						0
missense			61 clinvar	3 clinvar		64
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	61	3	0	64

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_019099.5	RefSeq	NP_061972.1	2	MANE Select
ENST00000357260.6	Ensembl	ENSP00000349805.5	2	MANE Select
NM_198926.2	RefSeq	NP_945120.1	2	Standard
ENST00000527621.1	Ensembl	ENSP00000437205.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of protein serine/threonine kinase activity

Molecular Function

protein kinase binding
protein serine/threonine kinase inhibitor activity

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000357260
Coding exons: 2
Length: 75195
Individuals with no LoFs: 125719
Homozygous LoFs: 0
Heterozygous LoFs: 29
Defined: 125748
p: 0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.345	168	181	0.928	0.0000104	1920
Missense (PolyPhen)		48	69.454	0.69111		750
Synonymous	-1.28	80	66.7	1.20	0.00000343	619
Loss of Function	1.65	5	10.9	0.460	7.01e-7	101

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00017	0.00017	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00016	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00014	0.00014	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Inhibitor of the serine/threonine-protein kinase PAK4. Acts by binding PAK4 in a substrate-like manner, inhibiting the protein kinase activity. {ECO:0000250|UniProtKB:Q96EL1}.;

Intolerance Scores

RVIS EVS: -0.6
RVIS percentile EVS: 17.75

Essentials

Essential (gene trap): N