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UniProtKB - Q9BYB0 (SHAN3_HUMAN)

Entry version 165 (17 Jun 2020)
Sequence version 3 (19 Feb 2014)
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Protein

SH3 and multiple ankyrin repeat domains protein 3

Gene

SHANK3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Major scaffold postsynaptic density protein which interacts with multiple proteins and complexes to orchestrate the dendritic spine and synapse formation, maturation and maintenance. Interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and HOMER, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction through the interaction with Arp2/3 and WAVE1 complex as well as the promotion of the F-actin clusters. By way of this control of actin dynamics, participates in the regulation of developing neurons growth cone motility and the NMDA receptor-signaling. Also modulates GRIA1 exocytosis and GRM5/MGLUR5 expression and signaling to control the AMPA and metabotropic glutamate receptor-mediated synaptic transmission and plasticity. May be required at an early stage of synapse formation and be inhibited by IGF1 to promote synapse maturation.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActin-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6794361 Neurexins and neuroligins
R-HSA-8853659 RET signaling

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9BYB0

Protein family/group databases

Transport Classification Database

More...TCDBi		8.A.28.1.7 the ankyrin (ankyrin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
SH3 and multiple ankyrin repeat domains protein 3
Short name:
Shank3
Alternative name(s):
Proline-rich synapse-associated protein 2
Short name:
ProSAP2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SHANK3
Synonyms:KIAA1650, PROSAP2, PSAP2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Unplaced

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:14294 SHANK3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606230 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BYB0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell projection, Cytoplasm, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

A chromosomal aberration involving SHANK3 is found in patients with chromosome 22q13.3 deletion syndrome. Translocation t(12;22)(q24.1;q13.3) with APPL2/DIP13B.1 Publication
Defects in SHANK3 are associated with neuropsychiatric disorders such as autism spectrum disorders (ASD), bipolar affective disorders and early dementia onset. ASD are characterized by impairments in reciprocal social interaction and communication as well as restricted and stereotyped patterns of interest and activities. ASD include forms with moderate to severe cognitive impairment and milder forms with higher cognitive ability (Asperger syndrome). Gene duplication is associated with hyperkinetic neuropsychiatric disorders (PubMed:24153177) such as hyperactivity, auditory overstimulation, epilepsy and bipolar affective disorders, among others.1 Publication
Phelan-McDermid syndrome (PHMDS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior, and minor dysmorphic features.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070259141P → A in PHMDS. 1 PublicationCorresponds to variant dbSNP:rs397514705EnsemblClinVar.1
Natural variantiVAR_0702701452A → S in PHMDS. 1 Publication1
Schizophrenia 15 (SCZD15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065800536R → W in SCZD15. 1 PublicationCorresponds to variant dbSNP:rs387906933EnsemblClinVar.1

Keywords - Diseasei

Autism spectrum disorder, Disease mutation, Schizophrenia

Organism-specific databases

DisGeNET

More...DisGeNETi		85358

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		SHANK3

MalaCards human disease database

More...MalaCardsi		SHANK3
MIMi606232 phenotype
613950 phenotype

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		48652 Monosomy 22q13.3
106 NON RARE IN EUROPE: Autism

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BYB0 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SHANK3

Domain mapping of disease mutations (DMDM)

More...DMDMi		148887434

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001746751 – 1731SH3 and multiple ankyrin repeat domains protein 3Add BLAST1731

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei122PhosphotyrosineBy similarity1
Modified residuei373PhosphoserineBy similarity1
Modified residuei375PhosphoserineBy similarity1
Modified residuei388PhosphoserineBy similarity1
Modified residuei395PhosphoserineBy similarity1
Modified residuei483PhosphoserineBy similarity1
Modified residuei556PhosphotyrosineBy similarity1
Modified residuei695PhosphoserineBy similarity1
Modified residuei782PhosphoserineBy similarity1
Modified residuei791PhosphoserineBy similarity1
Modified residuei802PhosphoserineBy similarity1
Modified residuei891PhosphoserineBy similarity1
Modified residuei898PhosphoserineBy similarity1
Modified residuei913PhosphothreonineCombined sources1
Modified residuei931PhosphotyrosineBy similarity1
Modified residuei966Asymmetric dimethylarginineBy similarity1
Modified residuei1129PhosphothreonineBy similarity1
Modified residuei1133PhosphoserineBy similarity1
Modified residuei1158PhosphoserineCombined sources1
Modified residuei1162PhosphoserineCombined sources1
Modified residuei1165PhosphoserineBy similarity1
Modified residuei1234PhosphothreonineCombined sources1
Modified residuei1253PhosphoserineCombined sources1
Modified residuei1420PhosphoserineBy similarity1
Modified residuei1510PhosphoserineBy similarity1
Modified residuei1521PhosphoserineBy similarity1
Modified residuei1529PhosphoserineBy similarity1
Modified residuei1539PhosphoserineBy similarity1
Modified residuei1634PhosphoserineBy similarity1
Modified residuei1636PhosphoserineCombined sources1
Modified residuei1638PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BYB0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BYB0

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9BYB0

PeptideAtlas

More...PeptideAtlasi		Q9BYB0

PRoteomics IDEntifications database

More...PRIDEi		Q9BYB0

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79606 [Q9BYB0-1]

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		Q9BYB0

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BYB0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9BYB0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the cerebral cortex and the cerebellum.

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

May homomultimerize via its SAM domain.

Interacts with BAIAP2, DBNL and SLC17A7/VGLUT1.

Interacts with DLGAP1/GKAP, GRM1/MGLUR1, GRM5/MGLUR5 and LZTS3 C-termini via its PDZ domain.

Interacts with ABI1, HOMER1, HOMER2, HOMER3 and CTTN/cortactin SH3 domain. Is part of a complex with DLG4/PSD-95 and DLGAP1/GKAP.

Interacts (via PDZ domain) with the GRIA1 subunit of the AMPA receptor (via PDZ-binding motif).

Interacts with WASF1 and CYFIP2; the interactions mediate the association of SHANK3 with the WAVE1 complex.

Interacts with ARPC2; the interaction probably mediates the association of SHANK3 with the Arp2/3 complex.

Interacts (via ANK repeats) with SHARPIN and SPTAN1.

Interacts (via PDZ domain) with ARHGAP44 (probably via PDZ-binding motif); the interaction takes place in dendritic spines and promotes GRIA1 exocytosis (By similarity).

Interacts with CAMK2A (PubMed:28130356).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		124487, 19 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9BYB0

Database of interacting proteins

More...DIPi		DIP-52267N

Protein interaction database and analysis system

More...IntActi		Q9BYB0, 43 interactors

Molecular INTeraction database

More...MINTi		Q9BYB0

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BYB0 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11731
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9BYB0

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati148 – 178ANK 1Add BLAST31
Repeati182 – 211ANK 2Add BLAST30
Repeati215 – 245ANK 3Add BLAST31
Repeati249 – 278ANK 4Add BLAST30
Repeati282 – 311ANK 5Add BLAST30
Repeati315 – 345ANK 6Add BLAST31
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini471 – 530SH3PROSITE-ProRule annotationAdd BLAST60
Domaini571 – 665PDZPROSITE-ProRule annotationAdd BLAST95
Domaini1668 – 1731SAMPROSITE-ProRule annotationAdd BLAST64

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 75Intramolecular interaction with the ANK repeatsBy similarityAdd BLAST75
Regioni678 – 685Required for interaction with ABI1By similarity8

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1494 – 1514Sequence analysisAdd BLAST21

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi1410 – 1416SH3-bindingSequence analysis7

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi678 – 681Poly-Pro4
Compositional biasi719 – 722Poly-Ala4
Compositional biasi814 – 930Pro-richAdd BLAST117
Compositional biasi1232 – 1349Pro-richAdd BLAST118

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

In isoform 1, the N-terminal region preceding the ANK repeats interacts with the 6 ANK repeats in an intramolecular manner, thereby restricting access to ligands, such as SHARPIN and SPTAN1.By similarity

Keywords - Domaini

ANK repeat, Coiled coil, Repeat, SH3 domain, SH3-binding

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0504 Eukaryota
KOG4375 Eukaryota
COG0666 LUCA

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BYB0

Database of Orthologous Groups

More...OrthoDBi		98033at2759

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.150.50, 1 hit
1.25.40.20, 2 hits
2.30.42.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR001478 PDZ
IPR041489 PDZ_6
IPR036034 PDZ_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain

Pfam protein domain database

More...Pfami		View protein in Pfam
PF12796 Ank_2, 2 hits
PF17820 PDZ_6, 1 hit
PF00536 SAM_1, 1 hit
PF07653 SH3_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00248 ANK, 5 hits
SM00228 PDZ, 1 hit
SM00454 SAM, 1 hit
SM00326 SH3, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47769 SSF47769, 1 hit
SSF48403 SSF48403, 1 hit
SSF50044 SSF50044, 1 hit
SSF50156 SSF50156, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 4 hits
PS50106 PDZ, 1 hit
PS50105 SAM_DOMAIN, 1 hit
PS50002 SH3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative promoter usage. AlignAdd to basket
Note: Additional isoforms seem to exist. These isoforms may be the product of multiple intragenic promoter and/or alternative splicing.

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BYB0-1) [UniParc]FASTAAdd to basket
Also known as: A

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDGPGASAVV VRVGIPDLQQ TKCLRLDPAA PVWAAKQRVL CALNHSLQDA 
        60         70         80         90        100
LNYGLFQPPS RGRAGKFLDE ERLLQEYPPN LDTPLPYLEF RYKRRVYAQN 
       110        120        130        140        150
LIDDKQFAKL HTKANLKKFM DYVQLHSTDK VARLLDKGLD PNFHDPDSGE 
       160        170        180        190        200
CPLSLAAQLD NATDLLKVLK NGGAHLDFRT RDGLTAVHCA TRQRNAAALT 
       210        220        230        240        250
TLLDLGASPD YKDSRGLTPL YHSALGGGDA LCCELLLHDH AQLGITDENG 
       260        270        280        290        300
WQEIHQACRF GHVQHLEHLL FYGADMGAQN ASGNTALHIC ALYNQESCAR 
       310        320        330        340        350
VLLFRGANRD VRNYNSQTAF QVAIIAGNFE LAEVIKTHKD SDVVPFRETP 
       360        370        380        390        400
SYAKRRRLAG PSGLASPRPL QRSASDINLK GEAQPAASPG PSLRSLPHQL 
       410        420        430        440        450
LLQRLQEEKD RDRDADQESN ISGPLAGRAG QSKISPSGPG GPGPAPGPGP 
       460        470        480        490        500
APPAPPAPPP RGPKRKLYSA VPGRKFIAVK AHSPQGEGEI PLHRGEAVKV 
       510        520        530        540        550
LSIGEGGFWE GTVKGRTGWF PADCVEEVQM RQHDTRPETR EDRTKRLFRH 
       560        570        580        590        600
YTVGSYDSLT SHSDYVIDDK VAVLQKRDHE GFGFVLRGAK AETPIEEFTP 
       610        620        630        640        650
TPAFPALQYL ESVDVEGVAW RAGLRTGDFL IEVNGVNVVK VGHKQVVALI 
       660        670        680        690        700
RQGGNRLVMK VVSVTRKPEE DGARRRAPPP PKRAPSTTLT LRSKSMTAEL 
       710        720        730        740        750
EELASIRRRK GEKLDEMLAA AAEPTLRPDI ADADSRAATV KQRPTSRRIT 
       760        770        780        790        800
PAEISSLFER QGLPGPEKLP GSLRKGIPRT KSVGEDEKLA SLLEGRFPRS 
       810        820        830        840        850
TSMQDPVREG RGIPPPPQTA PPPPPAPYYF DSGPPPAFSP PPPPGRAYDT 
       860        870        880        890        900
VRSSFKPGLE ARLGAGAAGL YEPGAALGPL PYPERQKRAR SMIILQDSAP 
       910        920        930        940        950
ESGDAPRPPP AATPPERPKR RPRPPGPDSP YANLGAFSAS LFAPSKPQRR 
       960        970        980        990       1000
KSPLVKQLQV EDAQERAALA VGSPGPGGGS FAREPSPTHR GPRPGGLDYG 
      1010       1020       1030       1040       1050
AGDGPGLAFG GPGPAKDRRL EERRRSTVFL SVGAIEGSAP GADLPSLQPS 
      1060       1070       1080       1090       1100
RSIDERLLGT GPTAGRDLLL PSPVSALKPL VSGPSLGPSG STFIHPLTGK 
      1110       1120       1130       1140       1150
PLDPSSPLAL ALAARERALA SQAPSRSPTP VHSPDADRPG PLFVDVQARD 
      1160       1170       1180       1190       1200
PERGSLASPA FSPRSPAWIP VPARREAEKV PREERKSPED KKSMILSVLD 
      1210       1220       1230       1240       1250
TSLQRPAGLI VVHATSNGQE PSRLGGAEEE RPGTPELAPA PMQSAAVAEP 
      1260       1270       1280       1290       1300
LPSPRAQPPG GTPADAGPGQ GSSEEEPELV FAVNLPPAQL SSSDEETREE 
      1310       1320       1330       1340       1350
LARIGLVPPP EEFANGVLLA TPLAGPGPSP TTVPSPASGK PSSEPPPAPE 
      1360       1370       1380       1390       1400
SAADSGVEEA DTRSSSDPHL ETTSTISTVS SMSTLSSESG ELTDTHTSFA 
      1410       1420       1430       1440       1450
DGHTFLLEKP PVPPKPKLKS PLGKGPVTFR DPLLKQSSDS ELMAQQHHAA 
      1460       1470       1480       1490       1500
SAGLASAAGP ARPRYLFQRR SKLWGDPVES RGLPGPEDDK PTVISELSSR 
      1510       1520       1530       1540       1550
LQQLNKDTRS LGEEPVGGLG SLLDPAKKSP IAAARLFSSL GELSSISAQR 
      1560       1570       1580       1590       1600
SPGGPGGGAS YSVRPSGRYP VARRAPSPVK PASLERVEGL GAGAGGAGRP 
      1610       1620       1630       1640       1650
FGLTPPTILK SSSLSIPHEP KEVRFVVRSV SARSRSPSPS PLPSPASGPG 
      1660       1670       1680       1690       1700
PGAPGPRRPF QQKPLQLWSK FDVGDWLESI HLGEHRDRFE DHEIEGAHLP 
      1710       1720       1730 
ALTKDDFVEL GVTRVGHRMN IERALRQLDG S
Note: Primarily expressed in neurons.
Length:1,731
Mass (Da):184,667
Last modified:February 19, 2014 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i781936CE60988D08
GO
Isoform 2 (identifier: Q9BYB0-3) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     1-119: Missing.

Note: Produced by alternative promoter usage.Curated
Show »
Length:1,612
Mass (Da):171,151
Checksum:iB5D0BACA602434C6
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0U1RR93A0A0U1RR93_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK3
1,724Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A590UJL3A0A590UJL3_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK3
1,121Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A590UJY5A0A590UJY5_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK3
212Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0U1RQS4A0A0U1RQS4_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK3
1,607Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A669K9V7A0A669K9V7_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK3
88Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A669KBA8A0A669KBA8_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK3
684Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03280412R → C Found in patients with neuropsychiatric disorders; unknown pathological significance; disrupts synaptic localization. 1 PublicationCorresponds to variant dbSNP:rs1336089966Ensembl.1
Natural variantiVAR_070259141P → A in PHMDS. 1 PublicationCorresponds to variant dbSNP:rs397514705EnsemblClinVar.1
Natural variantiVAR_032805198A → G1 PublicationCorresponds to variant dbSNP:rs1232069989Ensembl.1
Natural variantiVAR_032806224A → T1 PublicationCorresponds to variant dbSNP:rs766856815Ensembl.1
Natural variantiVAR_032807245I → T1 PublicationCorresponds to variant dbSNP:rs9616915EnsemblClinVar.1
Natural variantiVAR_032808300R → C Found in patients with neuropsychiatric disorders; unknown pathological significance; disrupts synaptic localization. 1 PublicationCorresponds to variant dbSNP:rs376862893Ensembl.1
Natural variantiVAR_070260321Q → R Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication1
Natural variantiVAR_070261341S → L Found in patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1314696433Ensembl.1
Natural variantiVAR_065799493H → Q1 Publication1
Natural variantiVAR_065800536R → W in SCZD15. 1 PublicationCorresponds to variant dbSNP:rs387906933EnsemblClinVar.1
Natural variantiVAR_065801720A → T1 Publication1
Natural variantiVAR_065802952S → T1 PublicationCorresponds to variant dbSNP:rs1340094921Ensembl.1
Natural variantiVAR_070262963A → G1 Publication1
Natural variantiVAR_070263970A → S Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs530255181EnsemblClinVar.1
Natural variantiVAR_0658031010G → V1 Publication1
Natural variantiVAR_0702641011G → V1 PublicationCorresponds to variant dbSNP:rs767058690EnsemblClinVar.1
Natural variantiVAR_0658041134P → H. Corresponds to variant dbSNP:rs769454362Ensembl.1
Natural variantiVAR_0702651173A → T Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139686326EnsemblClinVar.1
Natural variantiVAR_0702661231R → H1 PublicationCorresponds to variant dbSNP:rs750186589Ensembl.1
Natural variantiVAR_0702671263P → L Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757572910Ensembl.1
Natural variantiVAR_0658051298R → K1 PublicationCorresponds to variant dbSNP:rs201483867EnsemblClinVar.1
Natural variantiVAR_0658061333V → G1 PublicationCorresponds to variant dbSNP:rs200087210EnsemblClinVar.1
Natural variantiVAR_0702681406L → V Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201973139EnsemblClinVar.1
Natural variantiVAR_0702691443M → T Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs773395828Ensembl.1
Natural variantiVAR_0702701452A → S in PHMDS. 1 Publication1
Natural variantiVAR_0658071546I → V1 PublicationCorresponds to variant dbSNP:rs1389307970Ensembl.1
Natural variantiVAR_0702711557G → S Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1224063430Ensembl.1
Natural variantiVAR_0702721566S → G1 PublicationCorresponds to variant dbSNP:rs1481014682Ensembl.1
Natural variantiVAR_0658081645P → T1 Publication1
Natural variantiVAR_0702731654P → T Found in patients with neuropsychiatric disorders; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs749130556EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0536051 – 119Missing in isoform 2. CuratedAdd BLAST119

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AC000050 Genomic DNA No translation available.
AC000036 Genomic DNA No translation available.
AB051437 mRNA Translation: BAB33320.1
AK074038 mRNA Translation: BAB84864.1
AB569469 mRNA Translation: BAJ09793.1

NCBI Reference Sequences

More...RefSeqi		NP_277052.1, NM_033517.1

Keywords - Coding sequence diversityi

Alternative promoter usage, Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC000050 Genomic DNA No translation available.
AC000036 Genomic DNA No translation available.
AB051437 mRNA Translation: BAB33320.1
AK074038 mRNA Translation: BAB84864.1
AB569469 mRNA Translation: BAJ09793.1
RefSeqiNP_277052.1, NM_033517.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6CPKNMR-A471-530[»]
SMRiQ9BYB0
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi124487, 19 interactors
CORUMiQ9BYB0
DIPiDIP-52267N
IntActiQ9BYB0, 43 interactors
MINTiQ9BYB0

Protein family/group databases

TCDBi8.A.28.1.7 the ankyrin (ankyrin) family

PTM databases

CarbonylDBiQ9BYB0
iPTMnetiQ9BYB0
PhosphoSitePlusiQ9BYB0

Polymorphism and mutation databases

BioMutaiSHANK3
DMDMi148887434

Proteomic databases

jPOSTiQ9BYB0
MassIVEiQ9BYB0
PaxDbiQ9BYB0
PeptideAtlasiQ9BYB0
PRIDEiQ9BYB0
ProteomicsDBi79606 [Q9BYB0-1]

Organism-specific databases

DisGeNETi85358

GeneCards: human genes, protein and diseases

More...GeneCardsi		SHANK3
GeneReviewsiSHANK3
HGNCiHGNC:14294 SHANK3
MalaCardsiSHANK3
MIMi606230 gene
606232 phenotype
613950 phenotype
neXtProtiNX_Q9BYB0
Orphaneti48652 Monosomy 22q13.3
106 NON RARE IN EUROPE: Autism

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
KOG4375 Eukaryota
COG0666 LUCA
InParanoidiQ9BYB0
OrthoDBi98033at2759

Enzyme and pathway databases

ReactomeiR-HSA-6794361 Neurexins and neuroligins
R-HSA-8853659 RET signaling
SignaLinkiQ9BYB0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		85358 6 hits in 44 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SHANK3 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SHANK3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		85358
PharosiQ9BYB0 Tbio

Protein Ontology

More...PROi		PR:Q9BYB0
RNActiQ9BYB0 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Family and domain databases

Gene3Di1.10.150.50, 1 hit
1.25.40.20, 2 hits
2.30.42.10, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR001478 PDZ
IPR041489 PDZ_6
IPR036034 PDZ_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF12796 Ank_2, 2 hits
PF17820 PDZ_6, 1 hit
PF00536 SAM_1, 1 hit
PF07653 SH3_2, 1 hit
SMARTiView protein in SMART
SM00248 ANK, 5 hits
SM00228 PDZ, 1 hit
SM00454 SAM, 1 hit
SM00326 SH3, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
SSF48403 SSF48403, 1 hit
SSF50044 SSF50044, 1 hit
SSF50156 SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 4 hits
PS50106 PDZ, 1 hit
PS50105 SAM_DOMAIN, 1 hit
PS50002 SH3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSHAN3_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BYB0
Secondary accession number(s): D7UT47, Q8TET3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 26, 2002
Last sequence update: February 19, 2014
Last modified: June 17, 2020
This is version 165 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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