TECPR2 - tectonin beta-propeller repeat containing 2 Gene

Homo sapiens

Also known as HSAN9; SPG49; KIAA0329

Gene ID: 9895 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20562859	GOA

Biological Process GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14348	TECPR2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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