MKX

protein-coding

mohawk homeobox, the group of TALE class homeoboxes and pseudogenes

Gene summary

The protein encoded by this gene is an IRX family-related homeobox protein that may play a role in cell adhesion. Studies in mice suggest that this protein may be a regulator of tendon development. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jun 2011]

Previous symbols:

C10orf48
IRXL1

MANE transcript

NM_173576.3

Inheritance

—

ClinVar variants

U:62B:2

Top phenotype

MKX-related disorder

gnomAD constraint

pLI —, LoF o/e 0.13

Max pathogenic AF

—

Genomic locus

chr10:27,672,874-27,746,060

External References & Databases

Ensembl (ENSG00000150051)

Transcript & Mutation Effects

hg38 • Region Span ~73.2 kb

Loading mutation effect viewer...

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 MKX variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 56

MKX-related disorderTotal: 4

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_173576.3. 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			1 clinvar	1 clinvar		2
missense			60 clinvar		1 clinvar	61
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	62	1	1	64

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 27 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_173576.3	RefSeq	NP_775847.2	6	MANE Select
ENST00000419761.6	Ensembl	ENSP00000400896.1	6	MANE Select
NM_001242702.2	RefSeq	NP_001229631.1	6	Standard
ENST00000375790.10	Ensembl	ENSP00000364946.4	6	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
mkxa	Danio rerio	Structure: skeletal muscle cell Quality: irregular spatial pattern abnormal

Gene / Model

Organism

Observed Phenotype

mkxa

Danio rerio

Structure: skeletal muscle cell

Quality: irregular spatial pattern

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of transcription by RNA polymerase II
muscle organ development

Molecular Function

DNA-binding transcription factor activity, RNA polymerase II-specific
sequence-specific DNA binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000375790
Coding exons: 6
Length: 73186
Individuals with no LoFs: 125739
Homozygous LoFs: 0
Heterozygous LoFs: 9
Defined: 125748
p: 0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.320	193	206	0.937	0.0000115	2277
Missense (PolyPhen)		70	88.39	0.79194		944
Synonymous	0.637	76	83.4	0.911	0.00000506	683
Loss of Function	3.22	2	15.8	0.127	7.76e-7	192

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000093	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000055	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000044	0.000044	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May act as a morphogenetic regulator of cell adhesion. {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.344
RVIS EVS: 0.66
RVIS percentile EVS: 84.44

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: E
Indispensability score: 0.640

Gene Damage Prediction

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