1. Gene
  2. MAP3K20 - mitogen-activated protein kinase kinase kinase 20 Gene

MAP3K20 - mitogen-activated protein kinase kinase kinase 20 Gene

Homo sapiens

Also known as pk; AZK; MLT; MRK; ZAK; CNM6; MLK7; MLTK; SFMMP; mlklak; MLTKbeta; MLTKalpha

Gene ID: 51776 | Gene type: protein coding

About MAP3K20

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:173,075,517-173,268,015 (from NCBI)

This gene has 8 transcripts (splice variants), 147 orthologues, 23 paralogues and is associated with 4 phenotypes. Broad expression in heart (RPKM 51.0), fat (RPKM 33.9) and 21 other tissues.

Summary

This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

MAP3K20 Products(2)

mRNA Protein Name
NM_016653.3 NP_057737.2 mitogen-activated protein kinase kinase kinase 20 isoform 1
NM_133646.3 NP_598407.1 mitogen-activated protein kinase kinase kinase 20 isoform 2

MAP3K20 Protein Structure

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (17 - 260)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (339 - 407)

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Protein Preferred Names Protein Names

mitogen-activated protein kinase kinase kinase 20

HCCS-4

Related Diseases

Diseases Alias
Split-Foot Malformation With Mesoaxial Polydactyly

SFMMP

Split-Foot Malformation-Mesoaxial Polydactyly Syndrome

Split-Foot Malformation-Mesoaxial Polydactyly-Nail Abnormalities-Sensorineural Hearing Loss Syndrome

Myopathy, Centronuclear, 6, With Fiber-Type Disproportion

CNM6

Centronuclear Myopathy 6 With Fiber-Type Disproportion

Myopathy, Centronuclear, Type 6, With Fiber-Type Disproportion

Split-Hand/Foot Malformation 1

Ectrodactyly

Split Hand-Foot Malformation 1

SHFM1

Shfd1

Split-Hand Deformity

Split-Hand/Foot Malformation 1 With Or Without Deafness

Split-Hand/Foot Deformity 1

Ecd

Split Hand/Foot Malformation Type 1

Split Hand Foot Deformity 1

Split-Hand/Foot Malformation

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive

Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss

SHFM1D

Deafness, Congenital, With Split Hands And Feet

Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss

Congenital Deafness With Split Hands And Feet

Split Hand-Split Foot-Deafness Syndrome

Split Hand-Split Foot-Hearing Loss Syndrome

Congenital Deafness And Split Hands And Feet

Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss

Split-Hand-Foot Malformation With Sensorineural Hearing Loss

Centronuclear Myopathy

Myopathy, Centronuclear

Myotubular Myopathy

Cnm

Myopathy, Myotubular

Congenital Structural Myopathy

Myopathy

Muscular Diseases

Myopathies

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

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
Mus musculus MAP3K20 MGD MGI:2443258
Rattus norvegicus MAP3K20 RGD RGD:1561394
Macaca mulatta MAP3K20 VGNC VGNC:99379
Canis familiaris MAP3K20 VGNC VGNC:53099