HOXA2 - homeobox A2 Gene

Also Known as HOX1K; MCOHI

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3199

About HOXA2

Cytogenetic location: 7p15.2 Genomic coordinates (GRCh38): 7:27,100,354-27,102,683 (from NCBI)

This gene has 2 transcripts (splice variants), 96 orthologues, 42 paralogues and is associated with 3 phenotypes. Broad expression in lung (RPKM 1.2), fat (RPKM 0.8) and 19 other tissues.

Summary

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. [provided by RefSeq, Jul 2008]

HOXA2 Products (1)

mRNA Protein Name
NM_006735.4 NP_006726.1 homeobox protein Hox-A2
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

HOXA2 Protein Structure

Homeobox

Homeobox: Homeobox domain (144 - 200)

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

homeobox protein Hox-A2

  • homeobox protein Hox-1K

Related Diseases

Diseases Alias
Microtia, Hearing Impairment, And Cleft Palate
  • Microtia With Or Without Hearing Impairment

  • Bilateral Microtia-Deafness-Cleft Palate Syndrome

  • Bilateral Microtia-Hearing Loss-Cleft Palate Syndrome

  • MCRT

  • MHICP

  • Microtia Without Hearing Impairment

Microtia
  • Congenital Small Ears

  • Hypoplasia Of Ear

Athabaskan Brainstem Dysgenesis Syndrome
  • Bosley-Salih-Alorainy Syndrome

  • Navajo Brainstem Syndrome

  • ABDS

  • Human Hoxa1 Syndromes

  • BSAS

  • Athabaskan Brainstem Dysgenesis

  • Bosley Salih Alorainy Syndrome

  • Absd

  • Athabascan Brainstem Dysgenesis Syndrome

  • Narvajo Brainstem Syndrome

Cleft Palate, Cardiac Defects, And Mental Retardation
  • Cardiac Malformation, Cleft Lip/Palate, Microcephaly, And Digital Anomalies

  • CPCMR

  • Cleft Palate, Cardiac Defects, And Intellectual Disabillity

  • Cleft Palate, Cardiac Defects, And Intellectual Disability

  • Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies

Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
  • Guttmacher Syndrome

  • Preaxial Deficiency, Postaxial Polydactyly And Hypospadias

  • Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

  • Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome

  • GUTTS

Sacrum Chordoma
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

Combined Oxidative Phosphorylation Deficiency 5
  • COXPD5

  • Hypotonia With Lactic Acidemia And Hyperammonemia

  • Combined Oxidative Phosphorylation Defect Type 5

  • Combined Oxidative Phosphorylation Deficiency, Type 5

Clivus Chordoma
  • Chordoma Of Clivus

Hand-Foot-Genital Syndrome
  • Hand-Foot-Uterus Syndrome

  • Hfgs

  • Hfg Syndrome

  • Hfu Syndrome

  • HFG

  • Hfu

  • Hand Foot Uterus Syndrome

  • Hand Foot Genital Syndrome

Branchiootorenal Syndrome
  • Branchio-Oto-Renal Syndrome

  • Bor Syndrome

  • Branchiootorenal Dysplasia

  • Melnick-Fraser Syndrome

  • Branchiootorenal Spectrum Disorders

  • Branchio-Otorenal Dysplasia

  • Branchio Oto Renal Syndrome

  • Branchiootorenal/Branchiootic Syndrome

  • Bo Syndrome

  • Bor

  • Bos

  • Branchio-Otorenal Syndrome

  • Branchiootic Syndrome

  • Branchiootorenal Syndrome

  • Branchiootic Syndrome 1

Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
  • Bamforth-Lazarus Syndrome

  • Bamforth Syndrome

  • Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate

  • Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate

  • Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome

  • Hypothyroidism-Cleft Palate Syndrome

  • BLS

  • Athyroidal Hypothyroidism With Spiky Hair And Cleft Palate

Cleft Palate, Isolated
  • Cleft Palate

  • Isolated Cleft Palate

  • CPI

  • Cp

  • Palatoschisis

  • Cleft Palate Isolated

  • Uranostaphyloschisis

  • Congenital Fissure Of Palate

  • Cleft Of Secondary Palate

Clubfoot
  • Congenital Talipes Equinovarus

  • Congenital Clubfoot

  • Congenital Equinovarus

  • Equinovarus Deformity Of Foot

  • Club Foot

Monocyte, Dendritic Cell, And Nk Cell Deficiency
Immunodeficiency 32b
  • IMD32B

  • Immunodeficiency 32b, Monocyte And Dendritic Cell Deficiency, Autosomal Recessive

  • Immunodeficiency 32b, Monocyte, Dendritic Cell, And Natural Killer Cell Deficiency, Autosomal Recessive

  • Irf8 Deficiency, Autosomal Recessive

  • Epstein-Barr Virus Chronic Infection By

  • Epstein-Barr Virus, Susceptibility To Chronic Infection By

  • Autosomal Recessive Irf8 Deficiency

  • Chronic Epstein-Barr Virus Infection Syndrome

  • Caebv Syndrome

  • Chronic Ebv Infection Syndrome

  • Autosomal Recessive Monocyte And Dendritic Cell Deficiency

  • Immunodeficiency, Type 32b

  • Monocyte And Dendritic Cell Deficiency, Autosomal Recessive

Craniofacial Microsomia
  • Goldenhar Syndrome

  • Hemifacial Microsomia

  • Oculoauriculovertebral Spectrum

  • Oavs

  • Oculo-Auriculo-Vertebral Spectrum

  • CFM

  • Oav Dysplasia

  • Facioauriculovertebral Sequence

  • Fav Sequence

  • First And Second Branchial Arch Syndrome

  • Otomandibular Dysostosis

  • Hfm

  • Oculoauriculovertebral Dysplasia

  • Facio-Auriculo-Vertebral Spectrum

  • Facioauriculovertebral Dysplasia

  • Oculo-Auriculo-Vertebral Dysplasia

  • First Arch Syndrome

  • Oav Dysplasia

  • Goldenhar Disease

  • Expanded Spectrum Hemifacial Microsomia

  • Expanded Spectrum Of Hemifacial Microsomia

  • Oculoauriculovertebral Syndrome

  • Oavd

  • Asymmetric Hypoplasia Of Facial Structures

  • Auriculobranchiogenic Dysplasia

  • Fav

  • First And Second Pharyngeal Arch Syndromes

  • Goldenhar-Gorlin Syndrome

  • Lateral Facial Dysplasia

  • Oav Complex

  • Oral-Mandibular-Auricular Syndrome

  • Unilateral Intrauterine Facial Necrosis

  • Unilateral Mandibulofacial Dysostosis

  • Oav Spectrum

  • Oculoauricular Vertebral Dysplasia

  • Microsomia, Hemifacial

  • Goldenhar Syndrome With Ipsilateral Radial Defect

Orofacial Cleft
  • Cleft, Orofacial

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
Bos taurus HOXA2 VGNC VGNC:29910
Mus musculus HOXA2 MGD MGI:96174
Felis catus HOXA2 VGNC VGNC:67618
Canis familiaris HOXA2 VGNC VGNC:54768
Rattus norvegicus HOXA2 RGD RGD:11468112
Macaca mulatta HOXA2 VGNC VGNC:108413
Others HOXA2 NCBI