TECPR2 - tectonin beta-propeller repeat containing 2 Gene

Also Known as HSAN9; SPG49; KIAA0329

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9895

About TECPR2

Cytogenetic location: 14q32.31 Genomic coordinates (GRCh38): 14:102,362,941-102,502,477 (from NCBI)

This gene has 7 transcripts (splice variants), 220 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 5.6), testis (RPKM 5.5) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in Autophagy, as reduced expression levels of this gene have been associated with impaired Autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

TECPR2 Products (2)

mRNA	Protein	Name
NM_001172631.3	NP_001166102.1	tectonin beta-propeller repeat-containing protein 2 isoform 2
NM_014844.5	NP_055659.2	tectonin beta-propeller repeat-containing protein 2 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20562859	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein exit from endoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	26431026	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

TECPR2 Protein Structure

Hyd_WA

0
300
600
900
1200
1411 a.a.

Protein Preferred Names	Protein Names
tectonin beta-propeller repeat-containing protein 2

TECPR2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TECPR2	O15040	MAP1LC3C	Homo sapiens	Q9BXW4	Pull Down	20562859
Intra	TECPR2	O15040	GABARAP	Homo sapiens	O95166	Pull Down	20562859
Intra	TECPR2	O15040	GABARAPL2	Homo sapiens	P60520	Pull Down	20562859
Intra	TECPR2	O15040	GABARAPL1	Homo sapiens	Q9H0R8	Pull Down	20562859

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	HSAN9 Spg49 Spastic Paraplegia 49, Autosomal Recessive, Formerly Spg49, Formerly Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation Autosomal Recessive Spastic Paraplegia Type 49 Hsan Due To Tecpr2 Mutation Neuropathy, Hereditary Sensory And Autonomic, 9, With Developmental Delay Spastic Paraplegia 49, Autosomal Recessive
Hereditary Spastic Paraplegia 49	Autosomal Recessive Spastic Paraplegia Type 49 Autosomal Recessive Spastic Paraplegia 49 Spg49 Paraplegia, Spastic, Type 49, Autosomal Recessive
Spastic Paraplegia Type 49	Spastic Paraplegia 49, Autosomal Recessive Autosomal Recessive Spastic Paraplegia Type 49 Spg49
Birdshot Chorioretinopathy	Birdshot Chorioretinitis Bscr Birdshot Retinochoroiditis Birdshot Retinochoroidopathy Vitiliginous Choroiditis Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around The Optic Disk
Autonomic Neuropathy	Diabetic Autonomic Neuropathy
Spastic Paraparesis
Retinitis Pigmentosa-Deafness Syndrome	Retinitis Pigmentosa 8, Formerly Rp8, Formerly Retinitis Pigmentosa 21, Formerly Rp21, Formerly Usher Syndrome
Alzheimer Disease 13	AD13 Alzheimer Disease-13 Alzheimer'S Disease 13 Alzheimer'S Disease 13, Late Onset
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
Recombinase Activating Gene 1 Deficiency
Vici Syndrome	Absent Corpus Callosum Cataract Immunodeficiency VICIS Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation, And Absent Corpus Callosum Dionisi Vici Sabetta Gambarara Syndrome Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation And Absent Corpus Callosum Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome Dionisi-Vici-Sabetta-Gambarara Syndrome Immunodeficiency With Cleft Lip/Palate Cataract Hypopigmentation And Absent Corpus Callosum
Motor Peripheral Neuropathy	Motor Neuritis Peripheral Motor Neuropathy Hereditary Motor And Sensory Neuropathy Hsmn Hsmn - Hereditary Sensory And Motor Neuropathy Neuropathic Muscular Atrophy Hereditary Sensory And Motor Neuropathy Hereditary Motor And Sensory Neuropathies
Intellectual Developmental Disorder, Autosomal Dominant 13	MRD13 Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 13, With Neuronal Migration Defects Autosomal Dominant Non-Syndromic Intellectual Disability 13 Autosomal Dominant Intellectual Developmental Disorder 13 Autosomal Dominant Mental Retardation 13 Mental Retardation, Autosomal Dominant, Type 13
Combined Cellular And Humoral Immune Defects With Granulomas	Combined Immunodeficiency With Skin Granulomas CCHIDG Cid Due To Rag 1/2 Deficiency Combined Immunodeficiency Due To Rag 1/2 Deficiency Combined Immunodeficiency With Granulomatosis CHIDG Immune Defects, Combined Cellular And Humoral With Granulomas
Immunodeficiency 39	IMD39 Immunodeficiency, Type 39
Spastic Paraplegia 57, Autosomal Recessive	SPG57 Hereditary Spastic Paraplegia 57 Autosomal Recessive Spastic Paraplegia Type 57 Autosomal Recessive Spastic Paraplegia 57 Spastic Paraplegia Due To Partial Tfg Deficiency Paraplegia, Spastic, Type 57, Autosomal Recessive
Spinocerebellar Ataxia, Autosomal Recessive 20	Autosomal Recessive Spinocerebellar Ataxia 20 SCAR20 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome Autosomal Recessive Spinocerebellar Ataxia Type 20 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome Spinocerebellar Ataxia, Autosomal Recessive, 20 Ataxia, Spinocerebellar, Autosomal Recessive, Type 20
Neurodegeneration With Brain Iron Accumulation 5	NBIA5 Beta-Propeller Protein-Associated Neurodegeneration Bpan Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood Senda Neurodegeneration With Brain Iron Accumulation Type 5 Neurodegeneration With Brain Iron Accululation 5 Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood Neurodegeneration, With Brain Iron Accululation, Type 5
Neuroaxonal Dystrophy	Neuroaxonal Dystrophies
Immunodeficiency 44	IMD44
Central Sleep Apnea	Central Sleep Apnea Syndrome Sleep Apnea, Central Primary Central Sleep Apnea Central Sleep Apnea, Primary Central Sleep Apnoea Syndrome Csa - [Central Sleep Apnoea] Csas - [Central Sleep Apnoea Syndrome] Central Sleep Apnoea Due To Substances Including Medications
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Myopathy, X-Linked, With Excessive Autophagy	X-Linked Myopathy With Excessive Autophagy Xmea MEAX Vacuolar Myopathy
Spasticity
Cataract 44	CTRCT44 Total Early-Onset Cataract Cataract 44 And Hypotrichosis Cataract And Hypotrichosis Cataract, Type 44
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Spastic Paraplegia 50, Autosomal Recessive	Hereditary Spastic Paraplegia 50 SPG50 Ap-4 Deficiency Syndrome Ap-4-Associated Hereditary Spastic Paraplegia Adaptor Protein Complex 4 Deficiency Cerebral Palsy, Spastic Quadriplegic, 3, Formerly Cpsq3, Formerly Autosomal Recessive Spastic Paraplegia 50 Cpsq3 Spastic Quadriplegic Cerebral Palsy 3 Ap-4 Deficiency Ap-4-Associated Hsp Paraplegia, Spastic, Autosomal Recessive, Type 50 Spastic Paraplegia-50, Autosomal Recessive
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Spastic Ataxia	Spax Ataxia, Spastic

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-RS14348	TECPR2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TECPR2	VGNC	VGNC:47233
Mus musculus	TECPR2	MGD	MGI:2144865
Felis catus	TECPR2	VGNC	VGNC:66059
Macaca mulatta	TECPR2	VGNC	VGNC:99265
Rattus norvegicus	TECPR2	RGD	RGD:1307503
Bos taurus	TECPR2	VGNC	VGNC:35729
Others	TECPR2	NCBI