KLHL40 - kelch like family member 40 Gene

Homo sapiens

Also known as NEM8; SRYP; SYRP; KBTBD5

Gene ID: 131377 | Gene type: protein coding

About KLHL40

Cytogenetic location: 3p22.1 Genomic coordinates (GRCh38): 3:42,685,537-42,692,544 (from NCBI)

This gene has 1 transcript (splice variant), 259 orthologues, 54 paralogues and is associated with 3 phenotypes. Biased expression in prostate (RPKM 4.0), esophagus (RPKM 2.3) and 2 other tissues.

Summary

This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]

KLHL40 Products(1)

mRNA	Protein	Name
NM_152393.4	NP_689606.2	kelch-like protein 40

KLHL40 Protein Structure

BTB

BACK

Kelch_1

0
100
200
300
400
500
621 a.a.

Protein Preferred Names

Protein Names

kelch-like protein 40

kelch repeat and BTB (POZ) domain containing 5

Related Diseases

Diseases

Alias

Nemaline Myopathy 8

NEM8	Nemaline Myopathy 8, Autosomal Recessive
Myopathy, Nemaline, Type 8

Severe Congenital Nemaline Myopathy

Severe Congenital Nm

Spinal Muscular Atrophy Type 0

Very Severe Spinal Muscular Atrophy

Nemaline Myopathy 10

NEM10

Myopathy, Nemaline, Type 10

Myopathy

Muscular Diseases

Myopathies

Congenital Structural Myopathy

Nemaline Myopathy 2

NEM2	Nemaline Myopathy 2, Autosomal Recessive
Nemaline Myopathy, Type 2	Neb-Related Nemaline Myopathy
Myopathy, Nemaline, Type 2

Locked-In Syndrome

Locked In Syndrome	Cerebromedullospinal Disconnection
Locked-In State	Quadriplegia

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy	CNM1
Centronuclear Myopathy 1	Ad-Cnm
Myopathy, Centronuclear, Autosomal Dominant	Myotubular Myopathy, Autosomal Dominant
Centronuclear Myopathy, Autosomal, Modifier Of	Autosomal Dominant Myotubular Myopathy
Dnm2-Related Centronuclear Myopathy	Centronuclear Myopathy Autosomal Dominant
Myopathies, Structural, Congenital	Myopathy, Centronuclear, Type 1

Neuronopathy, Distal Hereditary Motor, Type Iia

HMN2A	Hmn Iia
Neuropathy, Distal Hereditary Motor, Type Iia	Dhmn2a
Distal Hereditary Motor Neuronopathy Type 2a	Distal Hereditary Motor Neuropathy Type Iia
Neuronopathy, Distal Hereditary Motor, Type 2a	Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, Iia
Charcot-Marie-Tooth Disease, Spinal, Iia	Autosomal Dominant Adult Spinal Muscular Atrophy Iia
Spinal Charcot-Marie-Tooth Disease Iia	Neuronopathy, Distal Hereditary Motor, 2a
Charcot-Marie-Tooth Disease Spinal Iia	Spinal Muscular Atrophy Distal Adult Autosomal Dominant Iia
Neuropathy, Motor, Distal, Hereditary, Type 2a

Fibrosis Of Extraocular Muscles, Congenital, 3a, With Or Without Extraocular Involvement

CFEOM3A	Fibrosis Of Extraocular Muscles, Congenital, 3a
Congenital Fibrosis Of The Extraocular Muscles 3a	Feom3 Locus
Congenital Fibrosis Of Extraocular Muscles 3a With Or Without Extraocular Involvement	Feom3
Tubb3 Syndrome	Fibrosis Of Extraocular Muscles, Congenital, Type 3a

Respiratory Failure

Acute Respiratory Failure	Chronic Respiratory Failure
Respiratory Insufficiency	Acute-On-Chronic Respiratory Failure
Respiratory Disease	Acute And Chronic Respiratory Failure
Respiratory Insufficiency/Failure	Chronic Respiratory Disease
Pulmonary Valve Insufficiency	Chronic Disease Of Respiratory System
Respiration Disorders	Respiratory Tract Diseases
Lung Failure Nos	Pulmonary Failure
Arf - [Acute Respiratory Failure]	Acute Respiratory Insufficiency
Acute Pulmonary Insufficiency	Acute Respiration Failure
Chronic Respiration Failure

Nemaline Myopathy 9

NEM9	Myopathy, Nemaline, Type 9

Nemaline Myopathy 11, Autosomal Recessive

NEM11

Nemaline Myopathy 11

Batten-Turner Congenital Myopathy

Congenital Myopathy	Batten Turner Congenital Myopathy
Myopathy Congenital	Myopathy, Congenital
Myotonia Congenita	Benign Congenital Myopathy

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

Multiple Pterygium Syndrome, Escobar Variant

Multiple Pterygium Syndrome	Pterygium
Escobar Syndrome	EVMPS
Pterygium Syndrome	Autosomal Recessive Multiple Pterygium Syndrome
Pterygium Colli Syndrome	Pterygium Universale
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome	Escobar Variant Multiple Pterygium Syndrome
Multiple Pterygium Syndrome, Nonlethal Type	Surfer'S Eye
Multiple Pterygium Syndrome Escobar Type	Multiple Pterygium Syndrome Nonlethal Type
Familial Pterygium Syndrome	Pterygium Colli
Multiple Pterygium Syndrome, Non-Lethal Type	Nonlethal Type Multiple Pterygium Syndrome
Pterygium Syndrome, Multiple, Escobar Type	Pterygium Of Eye
Web Eye

King-Denborough Syndrome

King Denborough Syndrome	King Syndrome
Kousseff Nichols Syndrome	KDS
Noonan Like Contracture Myopathy Hyperpyrexia	Anesthetic-Induced Malignant Hyperpyrexia In Children
Koussef-Nichols Syndrome

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Cold-Induced Sweating Syndrome

Crisponi Syndrome	Sohar-Crisponi Syndrome
Ciss	Cntf Receptor-Related Disorders
Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death	Sweating Syndrome, Cold-Induced

Distal Hereditary Motor Neuronopathy Type 2

Distal Hereditary Motor Neuropathy, Type Ii	Distal Hereditary Motor Neuropathy Type 2
Distal Hereditary Motor Neuropathy Type Ii	Hmn Ii
Hmn2	Distal Hereditary Motor Neuronopathy, Type Ii
Distal Spinal Muscular Atrophy Type 2	Dhmn2
Dsma2	Neuropathy, Motor, Distal, Hereditary, Type Ii
Spinal Muscular Atrophy, Jerash Type

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence	Fads
Fetal Akinesia Sequence	FADS1
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia	Pena-Shokeir Syndrome Type 1
Fetal Akinesia Deformation Sequence Syndrome	Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia	Pena-Shokeir Syndrome, Type I
Foetal Akinesia Deformation Sequence Syndrome	Foetal Akinesia Sequence
Fetal Akinesia Deformation Sequence Syndrome 1	Pena-Shokeir Syndrome, Type 1
Pena Shokeir Syndrome, Type 1	Akinesia, Fetal, Deformation Sequence
Akinesia, Fetal, Deformation Sequence, Type 1	Pena-Shokeir Syndrome Type I

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Myofibrillar Myopathy

Desmin Related Myopathy	Myotilinopathy
Myopathy, Myofibrillar	Alpha Beta Crystallinopathy
Desmin Storage Myopathy	Desminopathy
Filaminopathy	Protein Surplus Myopathy
Zaspopathy	Myofibrillar Myopathies
Myopathy, Myofibrillar, Desmin-Related	Myopathy, Desmin Storage
Mfm - [Myofibrillar Myopathy]

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

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-RS07368	KLHL40 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	KLHL40	VGNC	VGNC:74165
Felis catus	KLHL40	VGNC	VGNC:63156
Bos taurus	KLHL40	VGNC	VGNC:30665
Mus musculus	KLHL40	MGD	MGI:1919580
Rattus norvegicus	KLHL40	RGD	RGD:1305368
Canis familiaris	KLHL40	VGNC	VGNC:52888

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