HMX2 - H6 family homeobox 2 Gene

Homo sapiens

Also known as H6L; Nkx5-2

Gene ID: 3167 | Gene type: protein coding

About HMX2

Cytogenetic location: 10q26.13 Genomic coordinates (GRCh38): 10:123,148,136-123,150,672 (from NCBI)

This gene has 1 transcript (splice variant), 207 orthologues and 3 paralogues. Biased expression in kidney (RPKM 1.3) and duodenum (RPKM 0.1).

Summary

The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in this family are of ancient origin and play an important role in organ development during embryogenesis. A related mouse protein plays a role in patterning of inner ear structures. In humans, variations in a region containing this gene have been associated with inner ear malformations, vestibular dysfunction, and hearing loss. [provided by RefSeq, Aug 2012]

HMX2 Products(1)

mRNA	Protein	Name
NM_005519.2	NP_005510.1	homeobox protein HMX2

HMX2 Protein Structure

Homeobox

0
100
200
273 a.a.

Protein Preferred Names

Protein Names

homeobox protein HMX2

homeo box (H6 family) 2

Related Diseases

Diseases

Alias

Abnormality Of Glucagon Secretion

Glucagon Secretion Abnormality

Abnormality Of Secretion Of Glucagon

Oculoauricular Syndrome

OCACS	Schorderet-Munier-Franceschetti Syndrome
Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, And Anomalies Of The External Ear	Oculoauricular Syndrome, Schorderet Type
Oculo-Auricular Syndrome

Cecum Carcinoma

Cecum Cancer	Caecum Carcinoma
Carcinoma Of Cecum	Cecal Cancer
Malignant Neoplasm Of Caecum	Malignant Tumor Of The Cecum

Jackson-Weiss Syndrome

JWS	Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome	Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06253	HMX2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HMX2	RGD	RGD:1565366
Canis familiaris	HMX2	VGNC	VGNC:41722
Bos taurus	HMX2	VGNC	VGNC:29888
Mus musculus	HMX2	MGD	MGI:107159
Macaca mulatta	HMX2	VGNC	VGNC:106057

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