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Protein

Visual system homeobox 2

Gene

VSX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a significant role in the specification and morphogenesis of the sensory retina. May also participate in the development of the cells of the inner nuclear layer, particularly bipolar cells (By similarity).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi148 – 20760HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Sensory transduction, Transcription, Transcription regulation, Vision

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiP58304.

Names & Taxonomyi

Protein namesi
Recommended name:
Visual system homeobox 2
Alternative name(s):
Ceh-10 homeodomain-containing homolog
Homeobox protein CHX10
Gene namesi
Name:VSX2
Synonyms:CHX10, HOX10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:1975. VSX2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Microphthalmia, isolated, 2 (MCOP2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.
See also OMIM:610093
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti223 – 2231G → A in MCOP2. 1 Publication
VAR_067269
Natural varianti227 – 2271R → W in MCOP2. 1 Publication
Corresponds to variant rs121912545 [ dbSNP | Ensembl ].
VAR_029357
Microphthalmia with cataracts and iris abnormalities (MCOPCTI)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present.
See also OMIM:610092
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti200 – 2001R → P in MCOPCTI; loss of DNA binding capacity. 1 Publication
Corresponds to variant rs121912543 [ dbSNP | Ensembl ].
VAR_011618
Natural varianti200 – 2001R → Q in MCOPCTI; loss of DNA binding capacity. 1 Publication
Corresponds to variant rs121912543 [ dbSNP | Ensembl ].
VAR_011619
Microphthalmia, isolated, with coloboma, 3 (MCOPCB3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).
See also OMIM:610092
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti223 – 2231G → R in MCOPCB3; the patient also has cataracts. 1 Publication
Corresponds to variant rs755799430 [ dbSNP | Ensembl ].
VAR_075633

Keywords - Diseasei

Cataract, Disease mutation, Microphthalmia

Organism-specific databases

MalaCardsiVSX2.
MIMi610092. phenotype.
610093. phenotype.
Orphaneti98938. Colobomatous microphthalmia.
2542. Isolated anophthalmia - microphthalmia.
2543. Microphthalmia - cataract.
PharmGKBiPA26511.

Polymorphism and mutation databases

BioMutaiVSX2.
DMDMi17374365.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 361361Visual system homeobox 2PRO_0000049362Add
BLAST

Proteomic databases

PaxDbiP58304.
PeptideAtlasiP58304.
PRIDEiP58304.

PTM databases

iPTMnetiP58304.
PhosphoSiteiP58304.

Expressioni

Tissue specificityi

Abundantly expressed in retinal neuroblasts during eye development and in the inner nuclear layer of the adult retina. Within this layer, expression is stronger in the outer margin where bipolar cells predominate.

Gene expression databases

BgeeiENSG00000119614.
CleanExiHS_VSX2.

Organism-specific databases

HPAiHPA003436.

Interactioni

Protein-protein interaction databases

BioGridi130813. 14 interactions.
IntActiP58304. 2 interactions.
STRINGi9606.ENSP00000261980.

Structurei

3D structure databases

ProteinModelPortaliP58304.
SMRiP58304. Positions 155-204.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini208 – 26154CVCPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi304 – 31714OARPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi12 – 114103Pro-richAdd
BLAST
Compositional biasi117 – 13822Ser/Thr-richAdd
BLAST
Compositional biasi335 – 34612Asp/Glu-rich (acidic)Add
BLAST

Sequence similaritiesi

Belongs to the paired homeobox family.Curated
Contains 1 CVC domain.PROSITE-ProRule annotation
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0494. Eukaryota.
ENOG410ZN24. LUCA.
GeneTreeiENSGT00830000128306.
HOGENOMiHOG000115909.
HOVERGENiHBG036251.
InParanoidiP58304.
KOiK09336.
OMAiPPRCTGF.
OrthoDBiEOG091G14DA.
PhylomeDBiP58304.
TreeFamiTF350743.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR023339. CVC.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS51496. CVC. 1 hit.
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P58304-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTGKAGEALS KPKSETVAKS TSGGAPARCT GFGIQEILGL NKEPPSSHPR
60 70 80 90 100
AALDGLAPGH LLAARSVLSP AGVGGMGLLG PGGLPGFYTQ PTFLEVLSDP
110 120 130 140 150
QSVHLQPLGR ASGPLDTSQT ASSDSEDVSS SDRKMSKSAL NQTKKRKKRR
160 170 180 190 200
HRTIFTSYQL EELEKAFNEA HYPDVYAREM LAMKTELPED RIQVWFQNRR
210 220 230 240 250
AKWRKREKCW GRSSVMAEYG LYGAMVRHSI PLPESILKSA KDGIMDSCAP
260 270 280 290 300
WLLGMHKKSL EAAAESGRKP EGERQALPKL DKMEQDERGP DAQAAISQEE
310 320 330 340 350
LRENSIAVLR AKAQEHSTKV LGTVSGPDSL ARSTEKPEEE EAMDEDRPAE
360
RLSPPQLEDM A
Length:361
Mass (Da):39,411
Last modified:September 26, 2001 - v1
Checksum:i19EF3E8E783375F8
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti100 – 1001P → Q.
Corresponds to variant rs35214083 [ dbSNP | Ensembl ].
VAR_049593
Natural varianti200 – 2001R → P in MCOPCTI; loss of DNA binding capacity. 1 Publication
Corresponds to variant rs121912543 [ dbSNP | Ensembl ].
VAR_011618
Natural varianti200 – 2001R → Q in MCOPCTI; loss of DNA binding capacity. 1 Publication
Corresponds to variant rs121912543 [ dbSNP | Ensembl ].
VAR_011619
Natural varianti223 – 2231G → A in MCOP2. 1 Publication
VAR_067269
Natural varianti223 – 2231G → R in MCOPCB3; the patient also has cataracts. 1 Publication
Corresponds to variant rs755799430 [ dbSNP | Ensembl ].
VAR_075633
Natural varianti227 – 2271R → W in MCOP2. 1 Publication
Corresponds to variant rs121912545 [ dbSNP | Ensembl ].
VAR_029357

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY336059 mRNA. Translation: AAQ01593.1.
AC005519 Genomic DNA. No translation available.
AC006349 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81164.1.
BC128153 mRNA. Translation: AAI28154.1.
CCDSiCCDS9827.1.
RefSeqiNP_878314.1. NM_182894.2.
UniGeneiHs.449771.

Genome annotation databases

EnsembliENST00000261980; ENSP00000261980; ENSG00000119614.
GeneIDi338917.
KEGGihsa:338917.
UCSCiuc001xpq.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY336059 mRNA. Translation: AAQ01593.1.
AC005519 Genomic DNA. No translation available.
AC006349 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81164.1.
BC128153 mRNA. Translation: AAI28154.1.
CCDSiCCDS9827.1.
RefSeqiNP_878314.1. NM_182894.2.
UniGeneiHs.449771.

3D structure databases

ProteinModelPortaliP58304.
SMRiP58304. Positions 155-204.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130813. 14 interactions.
IntActiP58304. 2 interactions.
STRINGi9606.ENSP00000261980.

PTM databases

iPTMnetiP58304.
PhosphoSiteiP58304.

Polymorphism and mutation databases

BioMutaiVSX2.
DMDMi17374365.

Proteomic databases

PaxDbiP58304.
PeptideAtlasiP58304.
PRIDEiP58304.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261980; ENSP00000261980; ENSG00000119614.
GeneIDi338917.
KEGGihsa:338917.
UCSCiuc001xpq.3. human.

Organism-specific databases

CTDi338917.
GeneCardsiVSX2.
GeneReviewsiVSX2.
HGNCiHGNC:1975. VSX2.
HPAiHPA003436.
MalaCardsiVSX2.
MIMi142993. gene.
610092. phenotype.
610093. phenotype.
neXtProtiNX_P58304.
Orphaneti98938. Colobomatous microphthalmia.
2542. Isolated anophthalmia - microphthalmia.
2543. Microphthalmia - cataract.
PharmGKBiPA26511.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0494. Eukaryota.
ENOG410ZN24. LUCA.
GeneTreeiENSGT00830000128306.
HOGENOMiHOG000115909.
HOVERGENiHBG036251.
InParanoidiP58304.
KOiK09336.
OMAiPPRCTGF.
OrthoDBiEOG091G14DA.
PhylomeDBiP58304.
TreeFamiTF350743.

Enzyme and pathway databases

SignaLinkiP58304.

Miscellaneous databases

GeneWikiiVSX2.
GenomeRNAii338917.
PROiP58304.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119614.
CleanExiHS_VSX2.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR023339. CVC.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS51496. CVC. 1 hit.
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiVSX2_HUMAN
AccessioniPrimary (citable) accession number: P58304
Secondary accession number(s): A1A4X6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: September 26, 2001
Last modified: September 7, 2016
This is version 144 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.