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AHNAK2 - AHNAK nucleoprotein 2 Gene

Also Known as C14orf78

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 113146

About AHNAK2

Cytogenetic location: 14q32.33 Genomic coordinates (GRCh38): 14:104,937,253-104,978,374 (from NCBI)

This gene has 4 transcripts (splice variants), 57 orthologues and 2 paralogues. Biased expression in skin (RPKM 54.4), esophagus (RPKM 13.7) and 2 other tissues.

Summary

This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with Calcium Channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

AHNAK2 Products (2)

mRNA	Protein	Name
NM_001350929.2	NP_001337858.1	protein AHNAK2 isoform 2
NM_138420.4	NP_612429.2	protein AHNAK2 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17185750	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

Protein Preferred Names	Protein Names
protein AHNAK2

Related Diseases

Diseases	Alias
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f	Charcot-Marie-Tooth Disease Type 4f CMT4F Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease 4f Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f Charcot-Marie-Tooth Neuropathy Type 4f Dejerine-Sottas Disease
Developmental And Epileptic Encephalopathy 66	DEE66 Epileptic Encephalopathy, Early Infantile, 66 Eiee66 Developmental And Epileptic Encephalopathy, 66 Early Infantile Epileptic Encephalopathy 66 Encephalopathy, Epileptic, Early Infantile, Type 66
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00482	AHNAK2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	AHNAK2	RGD	RGD:1309696
Macaca mulatta	AHNAK2	VGNC	VGNC:107992
Bos taurus	AHNAK2	VGNC	VGNC:55891
Mus musculus	AHNAK2	MGD	MGI:2144831
Others	AHNAK2	NCBI