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Entry version 134 (16 Oct 2019)
Sequence version 2 (15 Jan 2008)
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Protein

Inverted formin-2

Gene

INF2

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

Severs actin filaments and accelerates their polymerization and depolymerization.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Phosphate inhibits both the depolymerization and severing activities.

<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

GO - Biological processi

<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

<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_and_taxonomy_section">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:
Inverted formin-2
Alternative name(s):
HBEBP2-binding protein C
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:INF2
Synonyms:C14orf151, C14orf173
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:23791 INF2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610982 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q27J81

<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

Keywords - Cellular componenti

Cytoplasm

<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

Focal segmental glomerulosclerosis 5 (FSGS5)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.
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_06307513A → T in FSGS5. 1 PublicationCorresponds to variant dbSNP:rs201383094EnsemblClinVar.1
Natural variantiVAR_06307642L → P in FSGS5. 2 PublicationsCorresponds to variant dbSNP:rs267606880EnsemblClinVar.1
Natural variantiVAR_07980173G → S in FSGS5; unknown pathological significance. 1 Publication1
Natural variantiVAR_07222976L → P in FSGS5. 1 Publication1
Natural variantiVAR_07980281L → P in FSGS5. 1 Publication1
Natural variantiVAR_07980381Missing in FSGS5; unknown pathological significance. 1 Publication1
Natural variantiVAR_079804151C → R in FSGS5. 1 Publication1
Natural variantiVAR_079805158H → D in FSGS5. 1 Publication1
Natural variantiVAR_073991162L → R in FSGS5. 1 Publication1
Natural variantiVAR_073992168Missing in FSGS5. 1 Publication1
Natural variantiVAR_079806177R → C in FSGS5. 1 Publication1
Natural variantiVAR_072230177R → H in FSGS5. 2 Publications1
Natural variantiVAR_079807181V → G in FSGS5; unknown pathological significance. 1 Publication1
Natural variantiVAR_063077184E → K in CMTDIE and FSGS5. 4 Publications1
Natural variantiVAR_072232184E → Q in FSGS5. 1 Publication1
Natural variantiVAR_063078186S → P in FSGS5. 2 PublicationsCorresponds to variant dbSNP:rs267606877EnsemblClinVar.1
Natural variantiVAR_072233193Y → H in FSGS5. 1 Publication1
Natural variantiVAR_063079198L → R in FSGS5. 3 Publications1
Natural variantiVAR_072234202N → D in FSGS5. 1 Publication1
Natural variantiVAR_072235203A → D in FSGS5. 1 Publication1
Natural variantiVAR_072236214R → C in FSGS5. 4 PublicationsCorresponds to variant dbSNP:rs912928648Ensembl.1
Natural variantiVAR_063080214R → H in FSGS5. 3 PublicationsCorresponds to variant dbSNP:rs267606879EnsemblClinVar.1
Natural variantiVAR_063081218R → Q in FSGS5. 5 PublicationsCorresponds to variant dbSNP:rs267607183EnsemblClinVar.1
Natural variantiVAR_063082218R → W in FSGS5. 3 PublicationsCorresponds to variant dbSNP:rs267606878EnsemblClinVar.1
Natural variantiVAR_063083220E → K in FSGS5. 4 Publications1
Natural variantiVAR_068845245L → P in FSGS5. 1 Publication1
Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type E is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Patients additionally manifest focal segmental glomerulonephritis, proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07398457L → R in CMTDIE; unknown pathological significance. 1 Publication1
Natural variantiVAR_07398568F → S in CMTDIE; unknown pathological significance. 1 Publication1
Natural variantiVAR_07398669 – 72Missing in CMTDIE. 1 Publication4
Natural variantiVAR_07398777L → R in CMTDIE; de novo mutation; unknown pathological significance. 2 Publications1
Natural variantiVAR_067589104C → F in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907035EnsemblClinVar.1
Natural variantiVAR_067590104C → R in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907034EnsemblClinVar.1
Natural variantiVAR_067591104C → W in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907036EnsemblClinVar.1
Natural variantiVAR_073988105V → G in CMTDIE. 1 Publication1
Natural variantiVAR_067592128L → P in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907037EnsemblClinVar.1
Natural variantiVAR_073990132L → P in CMTDIE. 1 Publication1
Natural variantiVAR_067593132L → R in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907038EnsemblClinVar.1
Natural variantiVAR_067594164 – 166Missing in CMTDIE. 1 Publication3
Natural variantiVAR_063077184E → K in CMTDIE and FSGS5. 4 Publications1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
64423

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

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GeneReviewsi
INF2

MalaCards human disease database

More...
MalaCardsi
INF2
MIMi613237 phenotype
614455 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000203485

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

More...
Orphaneti
93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162392025

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q27J81

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
INF2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
166215588

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003109632 – 1249Inverted formin-2Add BLAST1248

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 residuei2N-acetylserineCombined sources1
Modified residuei351PhosphoserineCombined sources1
Modified residuei1147PhosphoserineCombined sources1
Modified residuei1149PhosphoserineCombined sources1
Modified residuei1179PhosphothreonineCombined sources1
Modified residuei1192PhosphoserineCombined sources1
Modified residuei1194PhosphoserineCombined sources1
Modified residuei1199PhosphothreonineBy similarity1
Modified residuei1206PhosphothreonineCombined sources1
Isoform 2 (identifier: Q27J81-2)
Modified residuei1229PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q27J81

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q27J81

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q27J81

MaxQB - The MaxQuant DataBase

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MaxQBi
Q27J81

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

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PaxDbi
Q27J81

PeptideAtlas

More...
PeptideAtlasi
Q27J81

PRoteomics IDEntifications database

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PRIDEi
Q27J81

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
61269 [Q27J81-1]
61270 [Q27J81-2]
61271 [Q27J81-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q27J81

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

More...
PhosphoSitePlusi
Q27J81

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q27J81

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
Q27J81

<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

Widely expressed. In the kidney, expression is apparent in podocytes and some tubule cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000203485 Expressed in 207 organ(s), highest expression level in tibial nerve

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q27J81 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q27J81 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA000724

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with actin at the FH2 domain.

By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122172, 62 interactors

Protein interaction database and analysis system

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IntActi
Q27J81, 56 interactors

Molecular INTeraction database

More...
MINTi
Q27J81

STRING: functional protein association networks

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STRINGi
9606.ENSP00000376410

<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

3D structure databases

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

More...
SMRi
Q27J81

Database of comparative protein structure models

More...
ModBasei
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 <a href="http://www.uniprot.org/help/family_and_domains_section">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>Domaini2 – 330GBD/FH3PROSITE-ProRule annotationAdd BLAST329
Domaini554 – 946FH2PROSITE-ProRule annotationAdd BLAST393
Domaini974 – 989WH2PROSITE-ProRule annotationAdd BLAST16

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 coili874 – 951Sequence analysisAdd BLAST78

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 biasi389 – 393Poly-Ala5
Compositional biasi421 – 520Pro-richAdd BLAST100

<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

The WH2 domain acts as the DAD (diaphanous autoregulatory) domain and binds to actin monomers.By similarity
Regulated by autoinhibition due to intramolecular GBD-DAD binding.By similarity
The severing activity is dependent on covalent attachment of the FH2 domain to the C-terminus.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the formin homology family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1922 Eukaryota
ENOG410XQR0 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155691

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q27J81

Identification of Orthologs from Complete Genome Data

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OMAi
CDGINMN

Database of Orthologous Groups

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OrthoDBi
1204639at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q27J81

TreeFam database of animal gene trees

More...
TreeFami
TF326300

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.58.2220, 1 hit
1.25.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR015425 FH2_Formin
IPR042201 FH2_Formin_sf
IPR010472 FH3_dom
IPR014768 GBD/FH3_dom
IPR010473 GTPase-bd
IPR027649 Inf2
IPR003124 WH2_dom

The PANTHER Classification System

More...
PANTHERi
PTHR46345 PTHR46345, 2 hits

Pfam protein domain database

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Pfami
View protein in Pfam
PF06367 Drf_FH3, 1 hit
PF06371 Drf_GBD, 1 hit
PF02181 FH2, 1 hit
PF02205 WH2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01139 Drf_FH3, 1 hit
SM01140 Drf_GBD, 1 hit
SM00498 FH2, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371 SSF48371, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51444 FH2, 1 hit
PS51232 GBD_FH3, 1 hit
PS51082 WH2, 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_length">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 (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q27J81-1) [UniParc]FASTAAdd to basket

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
MSVKEGAQRK WAALKEKLGP QDSDPTEANL ESADPELCIR LLQMPSVVNY
60 70 80 90 100
SGLRKRLEGS DGGWMVQFLE QSGLDLLLEA LARLSGRGVA RISDALLQLT
110 120 130 140 150
CVSCVRAVMN SRQGIEYILS NQGYVRQLSQ ALDTSNVMVK KQVFELLAAL
160 170 180 190 200
CIYSPEGHVL TLDALDHYKT VCSQQYRFSI VMNELSGSDN VPYVVTLLSV
210 220 230 240 250
INAVILGPED LRARTQLRNE FIGLQLLDVL ARLRDLEDAD LLIQLEAFEE
260 270 280 290 300
AKAEDEEELL RVSGGVDMSS HQEVFASLFH KVSCSPVSAQ LLSVLQGLLH
310 320 330 340 350
LEPTLRSSQL LWEALESLVN RAVLLASDAQ ECTLEEVVER LLSVKGRPRP
360 370 380 390 400
SPLVKAHKSV QANLDQSQRG SSPQNTTTPK PSVEGQQPAA AAACEPVDHA
410 420 430 440 450
QSESILKVSQ PRALEQQAST PPPPPPPPLL PGSSAEPPPP PPPPPLPSVG
460 470 480 490 500
AKALPTAPPP PPLPGLGAMA PPAPPLPPPL PGSCEFLPPP PPPLPGLGCP
510 520 530 540 550
PPPPPLLPGM GWGPPPPPPP LLPCTCSPPV AGGMEEVIVA QVDHGLGSAW
560 570 580 590 600
VPSHRRVNPP TLRMKKLNWQ KLPSNVAREH NSMWASLSSP DAEAVEPDFS
610 620 630 640 650
SIERLFSFPA AKPKEPTMVA PRARKEPKEI TFLDAKKSLN LNIFLKQFKC
660 670 680 690 700
SNEEVAAMIR AGDTTKFDVE VLKQLLKLLP EKHEIENLRA FTEERAKLAS
710 720 730 740 750
ADHFYLLLLA IPCYQLRIEC MLLCEGAAAV LDMVRPKAQL VLAACESLLT
760 770 780 790 800
SRQLPIFCQL ILRIGNFLNY GSHTGDADGF KISTLLKLTE TKSQQNRVTL
810 820 830 840 850
LHHVLEEAEK SHPDLLQLPR DLEQPSQAAG INLEIIRSEA SSNLKKLLET
860 870 880 890 900
ERKVSASVAE VQEQYTERLQ ASISAFRALD ELFEAIEQKQ RELADYLCED
910 920 930 940 950
AQQLSLEDTF STMKAFRDLF LRALKENKDR KEQAAKAERR KQQLAEEEAR
960 970 980 990 1000
RPRGEDGKPV RKGPGKQEEV CVIDALLADI RKGFQLRKTA RGRGDTDGGS
1010 1020 1030 1040 1050
KAASMDPPRA TEPVATSNPA GDPVGSTRCP ASEPGLDATT ASESRGWDLV
1060 1070 1080 1090 1100
DAVTPGPQPT LEQLEEGGPR PLERRSSWYV DASDVLTTED PQCPQPLEGA
1110 1120 1130 1140 1150
WPVTLGDAQA LKPLKFSSNQ PPAAGSSRQD AKDPTSLLGV LQAEADSTSE
1160 1170 1180 1190 1200
GLEDAVHSRG ARPPAAGPGG DEDEDEEDTA PESALDTSLD KSFSEDAVTD
1210 1220 1230 1240
SSGSGTLPRA RGRASKGTGK RRKKRPSRSQ EEVPPDSDDN KTKKLCVIQ
Length:1,249
Mass (Da):135,624
Last modified:January 15, 2008 - v2
<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:i120BE3E0D209BFC0
GO
Isoform 2 (identifier: Q27J81-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1232-1249: EVPPDSDDNKTKKLCVIQ → GLRPRPKAK

Show »
Length:1,240
Mass (Da):134,617
Checksum:i3D8D4B942072E19E
GO
Isoform 3 (identifier: Q27J81-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     235-1249: Missing.

Show »
Length:234
Mass (Da):25,954
Checksum:i76C59D96787B51E7
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MQU1A0A0A0MQU1_HUMAN
Inverted formin-2
INF2
717Annotation 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>
Q8WYS3Q8WYS3_HUMAN
Inverted formin-2
INF2 pp9484
142Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH08756 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAH64828 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence ABD59343 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence ABD59344 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence ABD59345 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB15224 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated
The sequence EAW81872 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti832N → S in BAB15224 (PubMed:14702039).Curated1
Sequence conflicti880D → V in BAB15224 (PubMed:14702039).Curated1
Sequence conflicti1129Q → K in CAH10628 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06307513A → T in FSGS5. 1 PublicationCorresponds to variant dbSNP:rs201383094EnsemblClinVar.1
Natural variantiVAR_06307642L → P in FSGS5. 2 PublicationsCorresponds to variant dbSNP:rs267606880EnsemblClinVar.1
Natural variantiVAR_07398457L → R in CMTDIE; unknown pathological significance. 1 Publication1
Natural variantiVAR_07398568F → S in CMTDIE; unknown pathological significance. 1 Publication1
Natural variantiVAR_07398669 – 72Missing in CMTDIE. 1 Publication4
Natural variantiVAR_07980173G → S in FSGS5; unknown pathological significance. 1 Publication1
Natural variantiVAR_07222976L → P in FSGS5. 1 Publication1
Natural variantiVAR_07398777L → R in CMTDIE; de novo mutation; unknown pathological significance. 2 Publications1
Natural variantiVAR_07980281L → P in FSGS5. 1 Publication1
Natural variantiVAR_07980381Missing in FSGS5; unknown pathological significance. 1 Publication1
Natural variantiVAR_067589104C → F in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907035EnsemblClinVar.1
Natural variantiVAR_067590104C → R in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907034EnsemblClinVar.1
Natural variantiVAR_067591104C → W in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907036EnsemblClinVar.1
Natural variantiVAR_073988105V → G in CMTDIE. 1 Publication1
Natural variantiVAR_073989114G → D1 Publication1
Natural variantiVAR_067592128L → P in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907037EnsemblClinVar.1
Natural variantiVAR_073990132L → P in CMTDIE. 1 Publication1
Natural variantiVAR_067593132L → R in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907038EnsemblClinVar.1
Natural variantiVAR_079804151C → R in FSGS5. 1 Publication1
Natural variantiVAR_079805158H → D in FSGS5. 1 Publication1
Natural variantiVAR_073991162L → R in FSGS5. 1 Publication1
Natural variantiVAR_067594164 – 166Missing in CMTDIE. 1 Publication3
Natural variantiVAR_073992168Missing in FSGS5. 1 Publication1
Natural variantiVAR_079806177R → C in FSGS5. 1 Publication1
Natural variantiVAR_072230177R → H in FSGS5. 2 Publications1
Natural variantiVAR_079807181V → G in FSGS5; unknown pathological significance. 1 Publication1
Natural variantiVAR_072231183N → K1 Publication1
Natural variantiVAR_063077184E → K in CMTDIE and FSGS5. 4 Publications1
Natural variantiVAR_072232184E → Q in FSGS5. 1 Publication1
Natural variantiVAR_063078186S → P in FSGS5. 2 PublicationsCorresponds to variant dbSNP:rs267606877EnsemblClinVar.1
Natural variantiVAR_072233193Y → H in FSGS5. 1 Publication1
Natural variantiVAR_063079198L → R in FSGS5. 3 Publications1
Natural variantiVAR_072234202N → D in FSGS5. 1 Publication1
Natural variantiVAR_072235203A → D in FSGS5. 1 Publication1
Natural variantiVAR_072236214R → C in FSGS5. 4 PublicationsCorresponds to variant dbSNP:rs912928648Ensembl.1
Natural variantiVAR_063080214R → H in FSGS5. 3 PublicationsCorresponds to variant dbSNP:rs267606879EnsemblClinVar.1
Natural variantiVAR_063081218R → Q in FSGS5. 5 PublicationsCorresponds to variant dbSNP:rs267607183EnsemblClinVar.1
Natural variantiVAR_063082218R → W in FSGS5. 3 PublicationsCorresponds to variant dbSNP:rs267606878EnsemblClinVar.1
Natural variantiVAR_063083220E → K in FSGS5. 4 Publications1
Natural variantiVAR_068845245L → P in FSGS5. 1 Publication1
Natural variantiVAR_072237547G → D1 PublicationCorresponds to variant dbSNP:rs376451593EnsemblClinVar.1
Natural variantiVAR_0371171096P → S1 PublicationCorresponds to variant dbSNP:rs34251364EnsemblClinVar.1
Natural variantiVAR_0371181135T → M. Corresponds to variant dbSNP:rs3803311EnsemblClinVar.1
Natural variantiVAR_0722381160G → S1 PublicationCorresponds to variant dbSNP:rs9672065EnsemblClinVar.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_029360235 – 1249Missing in isoform 3. 2 PublicationsAdd BLAST1015
Alternative sequenceiVSP_0293611232 – 1249EVPPD…LCVIQ → GLRPRPKAK in isoform 2. 3 PublicationsAdd BLAST18

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
AK025709 mRNA Translation: BAB15224.1 Sequence problems.
AK290083 mRNA Translation: BAF82772.1
AL583722 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81872.1 Sequence problems.
BC006173 mRNA Translation: AAH06173.1
BC008756 mRNA Translation: AAH08756.2 Different initiation.
BC064828 mRNA Translation: AAH64828.1 Different initiation.
BX248757 mRNA Translation: CAD66564.1
DQ395338 mRNA Translation: ABD59343.1 Different initiation.
DQ395339 mRNA Translation: ABD59344.1 Different initiation.
DQ395340 mRNA Translation: ABD59345.1 Different initiation.
AL832905 mRNA Translation: CAH10628.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41999.1 [Q27J81-3]
CCDS45173.1 [Q27J81-2]
CCDS9989.2 [Q27J81-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001026884.3, NM_001031714.3 [Q27J81-2]
NP_071934.3, NM_022489.3 [Q27J81-1]
NP_116103.1, NM_032714.2 [Q27J81-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000330634; ENSP00000376406; ENSG00000203485 [Q27J81-2]
ENST00000392634; ENSP00000376410; ENSG00000203485 [Q27J81-1]
ENST00000398337; ENSP00000381380; ENSG00000203485 [Q27J81-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
64423

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:64423

UCSC genome browser

More...
UCSCi
uc001yoy.5 human [Q27J81-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AK025709 mRNA Translation: BAB15224.1 Sequence problems.
AK290083 mRNA Translation: BAF82772.1
AL583722 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81872.1 Sequence problems.
BC006173 mRNA Translation: AAH06173.1
BC008756 mRNA Translation: AAH08756.2 Different initiation.
BC064828 mRNA Translation: AAH64828.1 Different initiation.
BX248757 mRNA Translation: CAD66564.1
DQ395338 mRNA Translation: ABD59343.1 Different initiation.
DQ395339 mRNA Translation: ABD59344.1 Different initiation.
DQ395340 mRNA Translation: ABD59345.1 Different initiation.
AL832905 mRNA Translation: CAH10628.1
CCDSiCCDS41999.1 [Q27J81-3]
CCDS45173.1 [Q27J81-2]
CCDS9989.2 [Q27J81-1]
RefSeqiNP_001026884.3, NM_001031714.3 [Q27J81-2]
NP_071934.3, NM_022489.3 [Q27J81-1]
NP_116103.1, NM_032714.2 [Q27J81-3]

3D structure databases

SMRiQ27J81
ModBaseiSearch...

Protein-protein interaction databases

BioGridi122172, 62 interactors
IntActiQ27J81, 56 interactors
MINTiQ27J81
STRINGi9606.ENSP00000376410

PTM databases

iPTMnetiQ27J81
PhosphoSitePlusiQ27J81
SwissPalmiQ27J81

Polymorphism and mutation databases

BioMutaiINF2
DMDMi166215588

Proteomic databases

EPDiQ27J81
jPOSTiQ27J81
MassIVEiQ27J81
MaxQBiQ27J81
PaxDbiQ27J81
PeptideAtlasiQ27J81
PRIDEiQ27J81
ProteomicsDBi61269 [Q27J81-1]
61270 [Q27J81-2]
61271 [Q27J81-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
64423

Genome annotation databases

EnsembliENST00000330634; ENSP00000376406; ENSG00000203485 [Q27J81-2]
ENST00000392634; ENSP00000376410; ENSG00000203485 [Q27J81-1]
ENST00000398337; ENSP00000381380; ENSG00000203485 [Q27J81-3]
GeneIDi64423
KEGGihsa:64423
UCSCiuc001yoy.5 human [Q27J81-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
64423
DisGeNETi64423

GeneCards: human genes, protein and diseases

More...
GeneCardsi
INF2
GeneReviewsiINF2
HGNCiHGNC:23791 INF2
HPAiHPA000724
MalaCardsiINF2
MIMi610982 gene
613237 phenotype
614455 phenotype
neXtProtiNX_Q27J81
OpenTargetsiENSG00000203485
Orphaneti93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
PharmGKBiPA162392025

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1922 Eukaryota
ENOG410XQR0 LUCA
GeneTreeiENSGT00940000155691
InParanoidiQ27J81
OMAiCDGINMN
OrthoDBi1204639at2759
PhylomeDBiQ27J81
TreeFamiTF326300

Miscellaneous databases

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

More...
ChiTaRSi
INF2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
INF2

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

More...
GenomeRNAii
64423
PharosiQ27J81
PMAP-CutDBiQ27J81

Protein Ontology

More...
PROi
PR:Q27J81

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000203485 Expressed in 207 organ(s), highest expression level in tibial nerve
ExpressionAtlasiQ27J81 baseline and differential
GenevisibleiQ27J81 HS

Family and domain databases

Gene3Di1.20.58.2220, 1 hit
1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR015425 FH2_Formin
IPR042201 FH2_Formin_sf
IPR010472 FH3_dom
IPR014768 GBD/FH3_dom
IPR010473 GTPase-bd
IPR027649 Inf2
IPR003124 WH2_dom
PANTHERiPTHR46345 PTHR46345, 2 hits
PfamiView protein in Pfam
PF06367 Drf_FH3, 1 hit
PF06371 Drf_GBD, 1 hit
PF02181 FH2, 1 hit
PF02205 WH2, 1 hit
SMARTiView protein in SMART
SM01139 Drf_FH3, 1 hit
SM01140 Drf_GBD, 1 hit
SM00498 FH2, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS51444 FH2, 1 hit
PS51232 GBD_FH3, 1 hit
PS51082 WH2, 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 nameiINF2_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: Q27J81
Secondary accession number(s): Q27J83
, Q69YL8, Q6P1X7, Q6PK22, Q86TR7, Q9BRM1, Q9H6N1
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: October 16, 2019
This is version 134 of the entry and version 2 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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