HMX3 - H6 family homeobox 3 Gene

Also Known as NKX5.1; Nkx5-1; NKX-5.1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 340784

About HMX3

Cytogenetic location: 10q26.13 Genomic coordinates (GRCh38): 10:123,135,970-123,139,423 (from NCBI)

This gene has 1 transcript (splice variant), 256 orthologues and 3 paralogues. Low expression observed in reference dataset.

Summary

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in ear development and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including embryo implantation; maternal process involved in female pregnancy; and neuromuscular process controlling balance. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

HMX3 Products (1)

mRNA Protein Name
NM_001105574.2 NP_001099044.1 homeobox protein HMX3

HMX3 Protein Structure

Homeobox

Homeobox: Homeobox domain (228 - 284)

  • 0
  • 100
  • 200
  • 300
  • 357 a.a.
Protein Preferred Names Protein Names

homeobox protein HMX3

  • homeo box (H6 family) 3

Related Diseases

Diseases Alias
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

Deafness, Autosomal Recessive 17
  • DFNB17

  • Autosomal Recessive Nonsyndromic Deafness 17

  • Autosomal Recessive Deafness 17

Superior Semicircular Canal Dehiscence
  • Superior Canal Dehiscence Syndrome

  • Superior Semicircular Canal Dehiscence Syndrome

  • Canal Dehiscence Syndrome

  • Superior Canal Dehiscence

  • Superior Canal Syndrome

  • Third Mobile Window Syndrome

  • Scds

  • Anemia, Sickle Cell

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

Orthologs Information

Species Symbol Source ID
Canis familiaris HMX3 VGNC VGNC:49908
Bos taurus HMX3 VGNC VGNC:50191
Mus musculus HMX3 MGD MGI:107160
Macaca mulatta HMX3 VGNC VGNC:73491
Rattus norvegicus HMX3 RGD RGD:1559927
Others HMX3 NCBI