1. Gene
  2. HOXA2 - homeobox A2 Gene

HOXA2 - homeobox A2 Gene

Homo sapiens

Also known as HOX1K; MCOHI

Gene ID: 3199 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference 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