1. Gene
  2. ANKRA2 - ankyrin repeat family A member 2 Gene

ANKRA2 - ankyrin repeat family A member 2 Gene

Homo sapiens

Also known as ANKRA

Gene ID: 57763 | Gene type: protein coding

About ANKRA2

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:73,552,190-73,565,639 (from NCBI)

This gene has 8 transcripts (splice variants), 208 orthologues and 3 paralogues. Ubiquitous expression in thyroid (RPKM 11.0), endometrium (RPKM 9.3) and 25 other tissues.

Summary

Enables Enzyme binding activity and low-density lipoprotein particle receptor binding activity. Involved in regulation of protein-containing complex assembly. Located in cytosol and membrane. Part of protein-containing complex. Colocalizes with 3M complex. [provided by Alliance of Genome Resources, Apr 2022]

ANKRA2 Products(1)

mRNA Protein Name
NM_023039.5 NP_075526.1 ankyrin repeat family A protein 2

ANKRA2 Protein Structure

Ank

Ank: Ankyrin repeat (182 - 209)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (216 - 276)

  • 0
  • 100
  • 200
  • 313 a.a.
Protein Preferred Names Protein Names

ankyrin repeat family A protein 2

RFXANK-like protein 2

Related Diseases

Diseases Alias
Three M Syndrome 1

3-M Syndrome

Yakut Short Stature Syndrome

3m Syndrome

Le Merrer Syndrome

Dolichospondylic Dysplasia

Gloomy Face Syndrome

Three M Syndrome

3M1

3m Syndrome 1

Miller-Mckusick-Malvaux Syndrome

3-Msbn

Three-M Slender-Boned Nanism

Miller-Mckusick-Malvaux-Syndrome

3-M Syndrome 1

3m Syndrome-1

3m Syndrome, Type 1

Dwarfism

Dwarfism Tall Vertebrae

Branchiooculofacial Syndrome

Branchio-Oculo-Facial Syndrome

BOFS

Bof Syndrome

Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome

Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome

Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging

Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging

Bofs Syndrome

Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome

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 ANKRA2 VGNC VGNC:37879
Felis catus ANKRA2 VGNC VGNC:59795
Rattus norvegicus ANKRA2 RGD RGD:1303108
Mus musculus ANKRA2 MGD MGI:1915808
Bos taurus ANKRA2 VGNC VGNC:25907
Macaca mulatta ANKRA2 VGNC VGNC:69603