STAC3 - SH3 and cysteine rich domain 3 Gene

Homo sapiens

Also known as NAM; MYPBB

Gene ID: 246329 | Gene type: protein coding

About STAC3

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:57,243,458-57,251,187 (from NCBI)

This gene has 7 transcripts (splice variants), 224 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in prostate (RPKM 23.6), esophagus (RPKM 13.8) and 8 other tissues.

Summary

The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]

STAC3 Products(3)

mRNA	Protein	Name
NM_001286256.2	NP_001273185.1	SH3 and cysteine-rich domain-containing protein 3 isoform b
NM_001286257.2	NP_001273186.1	SH3 and cysteine-rich domain-containing protein 3 isoform c
NM_145064.3	NP_659501.1	SH3 and cysteine-rich domain-containing protein 3 isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in neuromuscular synaptic transmission	IMP IMP: Inferred from mutant phenotype	23736855	GOA
involved in skeletal muscle contraction	IMP IMP: Inferred from mutant phenotype	23736855	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

STAC3 Protein Structure

C1_1

SH3_1

SH3_2

0
100
200
300
364 a.a.

Protein Preferred Names

Protein Names

SH3 and cysteine-rich domain-containing protein 3

STAC3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	STAC3	Q96MF2	NKAPD1	Homo sapiens	Q6ZUT1-2	Y2H Prey Pooling	25416956
Intra	STAC3	Q96MF2	ZGPAT	Homo sapiens	Q8N5A5-2	Y2H Prey Pooling	25416956
Intra	STAC3	Q96MF2	ZGPAT	Homo sapiens	Q8N5A5-2	Validated Y2H	25416956
Intra	STAC3	Q96MF2	DIP2A	Homo sapiens	Q14689-6	Validated Y2H	25416956
Intra	STAC3	Q96MF2	DIP2A	Homo sapiens	Q14689-6	Y2H Prey Pooling	25416956
Intra	STAC3	Q96MF2	DIP2A	Homo sapiens	Q14689-6	Y2H Array	25416956
Intra	STAC3	Q96MF2	MAB21L3	Homo sapiens	Q8N8X9	Y2H Array	31515488
Intra	STAC3	Q96MF2	MAB21L3	Homo sapiens	Q8N8X9	Y2H Prey Pooling	25416956
Intra	STAC3	Q96MF2	FAM133A	Homo sapiens	Q8N9E0	Y2H Array	25416956
Intra	STAC3	Q96MF2	SREK1IP1	Homo sapiens	Q8N9Q2	Validated Y2H	25416956
Intra	STAC3	Q96MF2	BAZ2B	Homo sapiens	Q9UIF8-2	Validated Y2H	25416956
Intra	STAC3	Q96MF2	BAZ2B	Homo sapiens	Q9UIF8-2	Y2H Array	25416956
Intra	STAC3	Q96MF2	ZGPAT	Homo sapiens	Q8N5A5	Validated Y2H	25416956
Intra	STAC3	Q96MF2	ZGPAT	Homo sapiens	Q8N5A5	Y2H Array	25416956
Intra	STAC3	Q96MF2	CSNK2A1	Homo sapiens	P68400	Y2H Array	29892012
Intra	STAC3	Q96MF2	CSNK2A1	Homo sapiens	P68400	Y2H Array	25416956
Intra	STAC3	Q96MF2	NKAPD1	Homo sapiens	Q6ZUT1	Y2H Prey Pooling	25416956
Intra	STAC3	Q96MF2	PMP22	Homo sapiens	A0A6Q8PF08	Validated Y2H	32814053
Intra	STAC3	Q96MF2	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Array	32814053
Intra	STAC3	Q96MF2	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Pooling	32814053
Intra	STAC3	Q96MF2	ZCCHC10	Homo sapiens	Q8TBK6	Y2H Prey Pooling	25416956
Intra	STAC3	Q96MF2	INO80B	Homo sapiens	Q9C086	Validated Y2H	32296183
Intra	STAC3	Q96MF2	HMGXB4	Homo sapiens	Q9UGU5	Y2H Prey Pooling	32296183
Intra	STAC3	Q96MF2	HMGXB4	Homo sapiens	Q9UGU5	Validated Y2H	32296183
Intra	STAC3	Q96MF2	HMGXB4	Homo sapiens	Q9UGU5	Y2H Array	32296183
Intra	STAC3	Q96MF2	L3MBTL2	Homo sapiens	Q969R5	Y2H Prey Pooling	25416956
Intra	STAC3	Q96MF2	L3MBTL2	Homo sapiens	Q969R5	Y2H Array	25416956
Intra	STAC3	Q96MF2	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
Intra	STAC3	Q96MF2	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32296183
Intra	STAC3	Q96MF2	MMTAG2	Homo sapiens	Q9BU76	Validated Y2H	32296183
Intra	STAC3	Q96MF2	ENKD1	Homo sapiens	Q9H0I2	Y2H	21516116
Intra	STAC3	Q96MF2	ENKD1	Homo sapiens	Q9H0I2	Validated Y2H	32296183
Intra	STAC3	Q96MF2	FAM124A	Homo sapiens	Q86V42	Y2H Array	25416956
Intra	STAC3	Q96MF2	STAC3	Homo sapiens	Q96MF2	Pull Down	16189514
Intra	STAC3	Q96MF2	STAC3	Homo sapiens	Q96MF2	Y2H Prey Pooling	32296183
Intra	STAC3	Q96MF2	STAC3	Homo sapiens	Q96MF2	Y2H Array	25416956
Intra	STAC3	Q96MF2	STAC3	Homo sapiens	Q96MF2	Y2H Pooling	16189514
Intra	STAC3	Q96MF2	FAM9A	Homo sapiens	Q8IZU1	Y2H Array	32296183
Intra	STAC3	Q96MF2	FAM9A	Homo sapiens	Q8IZU1	Y2H Prey Pooling	32296183
Intra	STAC3	Q96MF2	GIGYF1	Homo sapiens	O75420	Y2H Prey Pooling	32296183
Intra	STAC3	Q96MF2	GIGYF1	Homo sapiens	O75420	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Myopathy, Congenital, Bailey-Bloch

Native American Myopathy	Nam
MYPBB	Myopathy, Congenital, Baily-Bloch
Anti-Hmg-Coa Myopathy	Anti-Srp Myopathy
Autoimmune Necrotizing Myositis	Imnm
Immune Myopathy With Myocyte Necrosis	Immune-Mediated Necrotizing Myopathy
Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia	Necrotizing Autoimmune Myopathy
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome	Congenital Myopathy With Cleft Palate And Malignant Hyperthermia

Stac3 Disorder

Native American Myopathy	Bailey-Bloch Congenital Myopathy
Congenital Myopathy - Cleft Palate - Malignant Hyperthermia	Congenital Myopathy Cleft Palate And Malignant Hyperthermia
Congenital Myopathy With Myopathic Facies, Scoliosis, And Malignant Hyperthermia	Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome
Myopathy, Congenital, Bailey-Bloch	Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia
Nam

Malignant Hyperthermia

Anesthesia Related Hyperthermia	Malignant Hyperpyrexia Due To Anesthesia
Hyperpyrexia, Malignant	Hyperthermia, Malignant
Malignant Hyperpyrexia	Mhs
Malignant Fever

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

Carey-Fineman-Ziter Syndrome 1

Carey-Fineman-Ziter Syndrome	CFZS
Congenital Nonprogressive Myopathy With Moebius And Robin Sequences	Myopathy, Congenital Nonprogressive, With Moebius Sequence And Robin Sequence
Cfz Syndrome	Carey Fineman Ziter Syndrome
Myopathy, Congenital Nonprogressive With Moebius And Robin Sequences	Myopathy-Moebius-Robin Syndrome
CFZS1	Moebius Sequence, Robin Complex, And Hypotonia
Congenital Non-Progressive Myopathy With Moebius And Robin Sequences

Myopathy

Muscular Diseases

Myopathies

Malignant Hyperthermia Susceptibility

Malignant Hyperpyrexia	Hyperthermia, Malignant, Susceptibility
Malignant Hyperpyrexia Due To Anesthesia

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

Familial Periodic Paralysis

Genetic Periodic Paralysis

Paralyses, Familial Periodic

Central Core Disease Of Muscle

Central Core Disease	Central Core Myopathy
CCD	Cco
Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber	Myopathy, Central Core
Shy-Magee Syndrome	Muscle Core Disease
Muscular Central Core Disease	Myopathy, Central Fibrillar
Shy'S Disease	Moderate Multiminicore Disease With Hand Involvement

Developmental And Epileptic Encephalopathy 42

DEE42	Epileptic Encephalopathy, Early Infantile, 42
Eiee42	Developmental And Epileptic Encephalopathy, 42
Early Infantile Epileptic Encephalopathy 42	Encephalopathy, Epileptic, Early Infantile, Type 42

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset

EMARDD	Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset, Mild Variant
Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome	Early-Onset Myopathy, Areflexia, Respiratory Distress And Dysphagia
Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia

Hypokalemic Periodic Paralysis, Type 1

Hypokalemic Periodic Paralysis	Hokpp
Hypopp	Westphall Disease
HOKPP1	Familial Hypokalemic Periodic Paralysis
Familial Periodic Paralysis	Westphal Disease
Hypokalemic Periodic Paralysis Type 1	Hypokalemic Familial Periodic Paralysis
Periodic Hypokalemic Paralysis	Periodic Paralysis I
Hypokpp	Primary Hypokalemic Periodic Paralysis
Periodic Paralysis Hypokalemic 1	Paralysis, Hypokalemic, Periodic
Paralysis, Hypokalemic, Periodic, Type 1

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

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

Alzheimer Disease 8

Ad8	Alzheimer'S Disease 8
Alzheimer Disease, Familial, 8	Alzheimer Disease, Familial 8
Alzheimer'S Disease 8, Late Onset

Multiminicore Disease

Multiminicore Myopathy	Mmd
Minicore Disease	Minicore Myopathy
Multi-Core Congenital Myopathy	Multi-Core Disease
Multi-Minicore Disease	Multicore Disease
Multicore Myopathy	Minicore Myopathy With External Ophthalmoplegia

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

Batten-Turner Congenital Myopathy

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

Lagophthalmos

Defective Lid Closure

Poor Closure Eyelids

Congenital Structural Myopathy

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]

Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis

Bethlem Myopathy 1

Bethlem Myopathy	Myopathy, Benign Congenital, With Contractures
Muscular Dystrophy, Benign Congenital	BTHLM1
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5	Lgmdd5
Benign Congenital Muscular Dystrophy	Benign Autosomal Dominant Myopathy
Myopathy, Bethlem	Myopathy, Bethlem, Type 1

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles	Cfeom
Feom	Congenital External Ophthalmoplegia
Congenital Fibrosis Syndrome	General Fibrosis Syndrome

Centronuclear Myopathy

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

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

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

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-RS13865	STAC3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	STAC3	VGNC	VGNC:46872
Mus musculus	STAC3	MGD	MGI:3606571
Felis catus	STAC3	VGNC	VGNC:65743
Macaca mulatta	STAC3	VGNC	VGNC:78010
Bos taurus	STAC3	VGNC	VGNC:35352
Rattus norvegicus	STAC3	RGD	RGD:1308964

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