SHOC2 - SHOC2 leucine rich repeat scaffold protein Gene

Homo sapiens

Also known as SOC2; SUR8; NSLH1; SIAA0862

Gene ID: 8036 | Gene type: protein coding

About SHOC2

Cytogenetic location: 10q25.2 Genomic coordinates (GRCh38): 10:110,919,370-111,013,665 (from NCBI)

This gene has 20 transcripts (splice variants), 216 orthologues, 31 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 10.0), bone marrow (RPKM 7.4) and 25 other tissues.

Summary

This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking Ras to downstream signal transducers in the Ras/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]

SHOC2 Products(4)

mRNA	Protein	Name
NM_001269039.3	NP_001255968.1	leucine-rich repeat protein SHOC-2 isoform 2
NM_001324336.2	NP_001311265.1	leucine-rich repeat protein SHOC-2 isoform 1
NM_001324337.2	NP_001311266.1	leucine-rich repeat protein SHOC-2 isoform 1
NM_007373.4	NP_031399.2	leucine-rich repeat protein SHOC-2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25137548	GOA
enables protein phosphatase 1 binding	IDA IDA: Inferred from direct assay	25137548	GOA
enables protein phosphatase binding	IDA IDA: Inferred from direct assay	16630891	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of Ras protein signal transduction	IMP IMP: Inferred from mutant phenotype	16630891	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	19684605	GOA
located in nucleus	IDA IDA: Inferred from direct assay	19684605	GOA
part of protein phosphatase type 1 complex	IDA IDA: Inferred from direct assay	16630891	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

SHOC2 Protein Structure

LRR_8

LRR_4

LRR_8

0
100
200
300
400
500
582 a.a.

Protein Preferred Names

Protein Names

leucine-rich repeat protein SHOC-2

soc-2 suppressor of clear homolog

Related Diseases

Diseases

Alias

Noonan Syndrome-Like Disorder With Loose Anagen Hair 1

Mazzanti Syndrome	NSLH1
Nslh	Tosti Syndrome
Noonan Syndrome-Like With Loose Anagen Hair 1	Noonan Syndrome-Like Disorder With Loose Anagen Hair

Noonan Syndrome-Like Disorder With Loose Anagen Hair

Noonan-Like Syndrome With Loose Anagen Hair	Mazzanti Syndrome
Ns/Lah

Polycystic Kidney Disease 4

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease	Arpkd
Polycystic Kidney Disease, Autosomal Recessive	Polycystic Kidney And Hepatic Disease 1
Pkhd1	PKD4
Polycystic Kidney Disease 4 With Or Without Hepatic Disease	Polycystic Kidney Disease, Infantile, Type I
Polycystic Kidney Disease, Infantile Type	Polycystic Kidney, Autosomal Recessive
Pkd3, Formerly	Polycystic Kidney Disease 4, With Or Without Hepatic Disease
Arpkd/Chf	Ar-Pkd
Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease	Infantile Polycystic Kidney Disease Type I
Pkd3	Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease
Polycystic Kidney Disease 3, Autosomal Dominant

Pseudo-Turner Syndrome

Noonan Syndrome

Noonan Syndrome 1

Noonan Syndrome	NS1
Male Turner Syndrome	Female Pseudo-Turner Syndrome
Turner Phenotype With Normal Karyotype	Noonan Syndrome With Pigmented Villonodular Synovitis
Turner'S Phenotype, Karyotype Normal	Familial Turner Syndrome
Noonan'S Syndrome	Noonan-Ehmke Syndrome
Ns	Pseudo-Ullrich-Turner Syndrome
Turner Syndrome In Female With X Chromosome	Turner-Like Syndrome
Ullrich-Noonan Syndrome	Noonan-Like/Multiple Giant Cell Lesion Syndrome
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions	Pterygium Colli Syndrome
Noonan Syndrome, Type 1	Turner Syndrome, Male

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Noonan Syndrome And Noonan-Related Syndrome

Loose Anagen Hair Syndrome

Loose Anagen Syndrome

LAHS

Pulmonary Valve Disease

Pulmonary Valve Disorder

Noonan Syndrome With Multiple Lentigines

Leopard Syndrome	Multiple Lentigines Syndrome
Moynahan Syndrome	Cardiomyopathic Lentiginosis
Progressive Cardiomyopathic Lentiginosis	Cardio-Cutaneous Syndrome
Lentiginosis Profusa	Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome
Generalized Lentiginosis	Gorlin Syndrome Ii
Lentiginosis Profusa Syndrome	Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes
Diffuse Lentiginosis	Nsml
Familial Multiple Lentigines Syndrome	Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type
Progressive Cardiomyopathic Lentiginosis Syndrome	Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan

Pulmonary Valve Stenosis

Valvular Pulmonary Stenosis	Heart Valve Pulmonary Stenosis
Valvar Pulmonary Stenosis	Valvate Pulmonary Stenosis
Pulmonary Stenosis	Pulmonary Valve Stricture
Pulmonic Valve Stenosis	Ps - [Pulmonary Valve Stenosis]
Pvs - [Pulmonary Valve Stenosis]	Pulmonary Valvular Stricture
Pulmonary Valvular Stenosis	Pulmonary Valvular Obstruction
Pulmonary Valve Obstruction	Obstructed Pulmonary Valve

Noonan Syndrome 7

NS7	Noonan Syndrome, Type 7

Cardiofaciocutaneous Syndrome 1

Cardiofaciocutaneous Syndrome	Cfc Syndrome
Cardio-Facio-Cutaneous Syndrome	CFC1
Cfcs	Cardio-Facial-Cutaneous Syndrome
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure	Cardiofaciocutaneous Syndrome, Type 1

Neurofibromatosis-Noonan Syndrome

NFNS	Neurofibromatosis Type 1
Neurofibromatosis With Noonan Phenotype	Nf1
Von Recklinghausen Disease	Neurofibromatosis Type 1-Noonan Syndrome
Noonan Neurofibromatosis Syndrome	Recklinghausen'S Disease
Noonan-Neurofibromatosis Syndrome	Fibromatosis Multiple Non Ossifying
Disseminated Nonossifying Fibromas In Association With Cafe-Au-Lait Spots	Jaffe Campanacci Syndrome
Type 1 Neurofibromatosis	Neurofibromatosis 1
Peripheral Neurofibromatosis	Recklinghausen Disease, Nerve
Jaffe-Campanacci Syndrome

Skin Granular Cell Tumor

Granular Cell Neoplasm Of The Skin	Granular Cell Tumor Of Skin
Granular Cell Tumour Of Skin	Skin Granular Cell Tumour

Ptosis

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

Costello Syndrome

Faciocutaneoskeletal Syndrome	Fcs Syndrome
Congenital Myopathy With Excess Of Muscle Spindles	CSTLO
CMEMS	Fcss
Myopathy, Congenital, With Excess Of Muscle Spindles

Cystic Lymphangioma

Cystic Hygroma	Cavernous Lymphangioma
Macrocystic Lymphatic Malformation	Cavernous Lymphatic Malformation
Macrocystic Lymphangioma	Lymphangioma, Cystic

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

Heart Septal Defect

Septal Defect	Heart Septal Defects
Cardiac Septal Defects	Congenital Septal Defect Of Heart

Moyamoya Disease 1

Moyamoya Disease	Spontaneous Occlusion Of The Circle Of Willis
Mymy	Progressive Intracranial Arterial Occlusion
Moyamoya Syndrome	MYMY1
Cerebrovascular Moyamoya Disease	Moya-Moya Disease
Progressive Intracranial Occlusive Arteropathy	Idiopathic Moyamoya Disease

Atrial Heart Septal Defect

Atrial Septal Defect	Atrial Septal Defects
Atrioseptal Defect	Auricular Septal Defect
Congenital Atrial Septal Defect	Interatrial Septal Defect
Interauricular Septal Defect	Heart Septal Defects, Atrial
Septal Defect, Atrial

Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic	JMML
Leukemia, Juvenile Myelomonocytic, Somatic	Juvenile Chronic Myelomonocytic Leukemia
Juvenile Chronic Myelogenous Leukemia	Leukemia, Myelomonocytic, Juvenile
Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism	Undescended Testicle
Undescended Testis	Cryptorchism
Undescended Testicles	CRYPTO
Impaired Testicular Descent	Cryptosporidiosis
Retained Testis	Unilateral Cryptorchidism
Unilateral Undescended Testis	Nondescent Unilateral Testicle
Unilateral Cryptorchism	Ectopic Testis, Unilateral
Bilateral Cryptorchidism	Bilateral Cryptorchism
Bilateral Nondescent Testicle	Bilateral Undescended Testes
Bilateral Ectopic Testes

Gingival Fibromatosis

Hereditary Gingival Fibromatosis	Hereditary Gingival Hyperplasia
Autosomal Dominant Gingival Fibromatosis	Autosomal Dominant Gingival Hyperplasia
Fibromatosis, Gingival, Hereditary	Fibromatosis, Gingival

Patent Ductus Arteriosus 1

Patent Ductus Arteriosus	PDA1
Pda	Ductus Arteriosus, Patent
Patent Ductus Arteriosus, Susceptibility To	Patent Ductus Botalli
Patency Of The Ductus Arteriosus	Patent Ductus Arteriosus Familial
Ductus Arteriosus Patent	Patent Ductus Arteriosus - Persisting Type

Polyhydramnios

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome	Deletion 1p36
Monosomy 1p36	Subtelomeric 1p36 Deletion
Monosomy 1p36 Syndrome	Distal Monosomy 1p36
Del(1)(P36)	Deletion 1pter
Monosomy 1pter

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-RS12878	SHOC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SHOC2	VGNC	VGNC:46152
Bos taurus	SHOC2	VGNC	VGNC:34605
Rattus norvegicus	SHOC2	RGD	RGD:1308146
Felis catus	SHOC2	VGNC	VGNC:97627
Macaca mulatta	SHOC2	VGNC	VGNC:81569
Mus musculus	SHOC2	MGD	MGI:1927197