HMX2 - H6 family homeobox 2 Gene

Also Known as H6L; Nkx5-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3167

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

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HMX2 Protein Structure

Homeobox

Homeobox: Homeobox domain (150 - 206)

  • 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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06253 HMX2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22201 Hmx2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28723 Hmx2 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others HMX2 NCBI