AHNAK2 - AHNAK nucleoprotein 2 Gene

Homo sapiens

Also known as C14orf78

Gene ID: 113146 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

Name
Email *

	Sorry, but the email address you supplied was invalid.