2. Gene
  3. AHNAK - AHNAK nucleoprotein Gene

AHNAK - AHNAK nucleoprotein Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PM227; AHNAK1; AHNAKRS

Gene ID: 79026 | Gene type: protein coding

About AHNAK

Cytogenetic location: 11q12.3 Genomic coordinates (GRCh38): 11:62,433,544-62,546,806 (from NCBI)

This gene has 8 transcripts (splice variants), 169 orthologues and 2 paralogues. Ubiquitous expression in skin (RPKM 158.4), fat (RPKM 150.5) and 24 other tissues.

Summary

The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac Calcium Channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]

AHNAK Products(4)

mRNA Protein Name
NM_001346445.2 NP_001333374.1 neuroblast differentiation-associated protein AHNAK isoform 1
NM_001346446.2 NP_001333375.1 neuroblast differentiation-associated protein AHNAK isoform 1
NM_001620.3 NP_001611.1 neuroblast differentiation-associated protein AHNAK isoform 1
NM_024060.4 NP_076965.2 neuroblast differentiation-associated protein AHNAK isoform 2
Protein Preferred Names Protein Names

neuroblast differentiation-associated protein AHNAK

AHNAK-related

Related Diseases

Diseases Alias
Megacolon

Dilatation Of Colon
Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2b

Lgmd3

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy Type 3

Muscular Dystrophy, Limb-Girdle, Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
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
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00481 AHNAK Human Pre-designed siRNA Set A / Unkown
HY-RS00482 AHNAK2 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta AHNAK VGNC VGNC:99540
Rattus norvegicus AHNAK RGD RGD:619779
Mus musculus AHNAK MGD MGI:1316648
Bos taurus AHNAK VGNC VGNC:25754
Canis familiaris AHNAK VGNC VGNC:37728