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Q9UBP5

- HEY2_HUMAN

UniProt

Q9UBP5 - HEY2_HUMAN

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Protein

Hairy/enhancer-of-split related with YRPW motif protein 2

Gene
HEY2, BHLHB32, CHF1, GRL, HERP, HERP1, HRT2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6.4 Publications

GO - Molecular functioni

  1. histone deacetylase binding Source: BHF-UCL
  2. microsatellite binding Source: UniProtKB
  3. protein binding Source: UniProtKB
  4. protein binding transcription factor activity Source: UniProtKB
  5. RNA polymerase II activating transcription factor binding Source: BHF-UCL
  6. RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity Source: UniProtKB
  7. sequence-specific DNA binding Source: BHF-UCL
  8. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  9. transcription factor binding Source: UniProtKB

GO - Biological processi

  1. anterior/posterior axis specification Source: Ensembl
  2. arterial endothelial cell differentiation Source: BHF-UCL
  3. ascending aorta morphogenesis Source: BHF-UCL
  4. atrial septum morphogenesis Source: BHF-UCL
  5. atrioventricular valve development Source: Ensembl
  6. cardiac epithelial to mesenchymal transition Source: BHF-UCL
  7. cardiac left ventricle morphogenesis Source: BHF-UCL
  8. cardiac muscle hypertrophy in response to stress Source: Ensembl
  9. cardiac right ventricle morphogenesis Source: BHF-UCL
  10. cardiac septum morphogenesis Source: BHF-UCL
  11. cardiac vascular smooth muscle cell development Source: Ensembl
  12. cardiac ventricle morphogenesis Source: UniProtKB
  13. cell fate commitment Source: Ensembl
  14. cochlea development Source: Ensembl
  15. coronary vasculature morphogenesis Source: Ensembl
  16. dorsal aorta morphogenesis Source: BHF-UCL
  17. endocardial cushion to mesenchymal transition involved in heart valve formation Source: Ensembl
  18. heart trabecula formation Source: Ensembl
  19. labyrinthine layer blood vessel development Source: BHF-UCL
  20. mesenchymal cell development Source: BHF-UCL
  21. muscular septum morphogenesis Source: BHF-UCL
  22. negative regulation of cardiac muscle cell apoptotic process Source: Ensembl
  23. negative regulation of cardiac vascular smooth muscle cell differentiation Source: BHF-UCL
  24. negative regulation of gene expression Source: UniProtKB
  25. negative regulation of Notch signaling pathway Source: Ensembl
  26. negative regulation of transcription, DNA-templated Source: UniProtKB
  27. negative regulation of transcription by transcription factor localization Source: BHF-UCL
  28. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  29. negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation Source: BHF-UCL
  30. negative regulation of transcription initiation from RNA polymerase II promoter Source: BHF-UCL
  31. negative regulation of transcription regulatory region DNA binding Source: BHF-UCL
  32. Notch signaling involved in heart development Source: BHF-UCL
  33. Notch signaling pathway Source: UniProtKB
  34. outflow tract morphogenesis Source: BHF-UCL
  35. positive regulation of cardiac muscle cell proliferation Source: Ensembl
  36. positive regulation of heart rate Source: Ensembl
  37. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  38. protein-DNA complex assembly Source: Ensembl
  39. pulmonary artery morphogenesis Source: BHF-UCL
  40. pulmonary valve morphogenesis Source: BHF-UCL
  41. regulation of auditory receptor cell differentiation Source: Ensembl
  42. regulation of vasculogenesis Source: BHF-UCL
  43. smooth muscle cell differentiation Source: BHF-UCL
  44. transcription from RNA polymerase II promoter Source: GOC
  45. tricuspid valve formation Source: Ensembl
  46. tricuspid valve morphogenesis Source: BHF-UCL
  47. umbilical cord morphogenesis Source: BHF-UCL
  48. vascular smooth muscle cell development Source: UniProtKB
  49. vasculogenesis Source: BHF-UCL
  50. ventricular cardiac muscle cell development Source: UniProtKB
  51. ventricular septum morphogenesis Source: BHF-UCL
  52. ventricular trabecula myocardium morphogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Notch signaling pathway, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_118780. NOTCH1 Intracellular Domain Regulates Transcription.
REACT_160243. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
REACT_160254. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.

Names & Taxonomyi

Protein namesi
Recommended name:
Hairy/enhancer-of-split related with YRPW motif protein 2
Alternative name(s):
Cardiovascular helix-loop-helix factor 1
Short name:
hCHF1
Class B basic helix-loop-helix protein 32
Short name:
bHLHb32
HES-related repressor protein 2
Hairy and enhancer of split-related protein 2
Short name:
HESR-2
Hairy-related transcription factor 2
Short name:
HRT-2
Short name:
hHRT2
Protein gridlock homolog
Gene namesi
Name:HEY2
Synonyms:BHLHB32, CHF1, GRL, HERP, HERP1, HRT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:4881. HEY2.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nucleoplasm Source: Reactome
  3. nucleus Source: UniProtKB
  4. transcriptional repressor complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi54 – 541G → P: Impairs transcriptional repression. 1 Publication

Organism-specific databases

PharmGKBiPA29259.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 337337Hairy/enhancer-of-split related with YRPW motif protein 2PRO_0000245515Add
BLAST

Proteomic databases

PaxDbiQ9UBP5.
PRIDEiQ9UBP5.

PTM databases

PhosphoSiteiQ9UBP5.

Expressioni

Gene expression databases

ArrayExpressiQ9UBP5.
BgeeiQ9UBP5.
CleanExiHS_HEY2.
GenevestigatoriQ9UBP5.

Organism-specific databases

HPAiHPA030205.

Interactioni

Subunit structurei

May self-associate By similarity. Interacts with GATA4, HES1 and HEYL By similarity. Interacts with HDAC1, NCOR1 and SIN3A By similarity. Interacts with ARNT and GATA6.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
HTTP428582EBI-750630,EBI-466029
SIRT1Q96EB63EBI-750630,EBI-1802965

Protein-protein interaction databases

BioGridi117045. 18 interactions.
IntActiQ9UBP5. 5 interactions.
MINTiMINT-1469894.
STRINGi9606.ENSP00000357348.

Structurei

3D structure databases

ProteinModelPortaliQ9UBP5.
SMRiQ9UBP5. Positions 40-104, 110-164.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini48 – 10356bHLHAdd
BLAST
Domaini122 – 15736OrangeAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni47 – 11670Transcriptional repression and interaction with NCOR1 and SIN3A By similarityAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi327 – 3304YRPW motif

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi175 – 19117His-richAdd
BLAST
Compositional biasi262 – 30241Ala-richAdd
BLAST

Sequence similaritiesi

Belongs to the HEY family.
Contains 1 Orange domain.

Phylogenomic databases

eggNOGiNOG324798.
HOGENOMiHOG000286035.
HOVERGENiHBG003275.
InParanoidiQ9UBP5.
KOiK09091.
OMAiSTCASQR.
PhylomeDBiQ9UBP5.
TreeFamiTF323617.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR003650. Orange.
IPR018352. Orange_subgr.
[Graphical view]
PfamiPF07527. Hairy_orange. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
SM00511. ORANGE. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
PS51054. ORANGE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UBP5-1 [UniParc]FASTAAdd to Basket

« Hide

MKRPCEETTS ESDMDETIDV GSENNYSGQS TSSVIRLNSP TTTSQIMARK    50
KRRGIIEKRR RDRINNSLSE LRRLVPTAFE KQGSAKLEKA EILQMTVDHL 100
KMLQATGGKG YFDAHALAMD FMSIGFRECL TEVARYLSSV EGLDSSDPLR 150
VRLVSHLSTC ATQREAAAMT SSMAHHHHPL HPHHWAAAFH HLPAALLQPN 200
GLHASESTPC RLSTTSEVPP AHGSALLTAT FAHADSALRM PSTGSVAPCV 250
PPLSTSLLSL SATVHAAAAA ATAAAHSFPL SFAGAFPMLP PNAAAAVAAA 300
TAISPPLSVS ATSSPQQTSS GTNNKPYRPW GTEVGAF 337
Length:337
Mass (Da):35,808
Last modified:May 1, 2000 - v1
Checksum:i71B7B1AA69BA88D2
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti96 – 961T → A in a patient with atrioventricular septal defects. 1 Publication
VAR_026974
Natural varianti98 – 981D → A in a patient with atrioventricular septal defects. 1 Publication
VAR_026975
Natural varianti100 – 1001L → S in a patient with atrioventricular septal defects. 1 Publication
VAR_026976
Natural varianti140 – 1401V → M.
Corresponds to variant rs3734638 [ dbSNP | Ensembl ].
VAR_026977

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ249545 mRNA. Translation: CAB56839.1.
AF237949 mRNA. Translation: AAF44781.1.
AF173901 mRNA. Translation: AAF20173.1.
AF311884 mRNA. Translation: AAG31157.1.
AF232238 mRNA. Translation: AAF37296.1.
AB044755 mRNA. Translation: BAA96781.1.
BT020067 mRNA. Translation: AAV38870.1.
BT020068 mRNA. Translation: AAV38871.1.
AL078594 Genomic DNA. Translation: CAB87581.1.
BC007707 mRNA. Translation: AAH07707.1.
CCDSiCCDS5131.1.
RefSeqiNP_036391.1. NM_012259.2.
UniGeneiHs.144287.

Genome annotation databases

EnsembliENST00000368364; ENSP00000357348; ENSG00000135547.
GeneIDi23493.
KEGGihsa:23493.
UCSCiuc003qad.3. human.

Polymorphism databases

DMDMi74762767.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ249545 mRNA. Translation: CAB56839.1 .
AF237949 mRNA. Translation: AAF44781.1 .
AF173901 mRNA. Translation: AAF20173.1 .
AF311884 mRNA. Translation: AAG31157.1 .
AF232238 mRNA. Translation: AAF37296.1 .
AB044755 mRNA. Translation: BAA96781.1 .
BT020067 mRNA. Translation: AAV38870.1 .
BT020068 mRNA. Translation: AAV38871.1 .
AL078594 Genomic DNA. Translation: CAB87581.1 .
BC007707 mRNA. Translation: AAH07707.1 .
CCDSi CCDS5131.1.
RefSeqi NP_036391.1. NM_012259.2.
UniGenei Hs.144287.

3D structure databases

ProteinModelPortali Q9UBP5.
SMRi Q9UBP5. Positions 40-104, 110-164.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117045. 18 interactions.
IntActi Q9UBP5. 5 interactions.
MINTi MINT-1469894.
STRINGi 9606.ENSP00000357348.

PTM databases

PhosphoSitei Q9UBP5.

Polymorphism databases

DMDMi 74762767.

Proteomic databases

PaxDbi Q9UBP5.
PRIDEi Q9UBP5.

Protocols and materials databases

DNASUi 23493.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000368364 ; ENSP00000357348 ; ENSG00000135547 .
GeneIDi 23493.
KEGGi hsa:23493.
UCSCi uc003qad.3. human.

Organism-specific databases

CTDi 23493.
GeneCardsi GC06P126068.
HGNCi HGNC:4881. HEY2.
HPAi HPA030205.
MIMi 604674. gene.
neXtProti NX_Q9UBP5.
PharmGKBi PA29259.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG324798.
HOGENOMi HOG000286035.
HOVERGENi HBG003275.
InParanoidi Q9UBP5.
KOi K09091.
OMAi STCASQR.
PhylomeDBi Q9UBP5.
TreeFami TF323617.

Enzyme and pathway databases

Reactomei REACT_118780. NOTCH1 Intracellular Domain Regulates Transcription.
REACT_160243. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
REACT_160254. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.

Miscellaneous databases

GeneWikii HEY2.
GenomeRNAii 23493.
NextBioi 45859.
PROi Q9UBP5.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UBP5.
Bgeei Q9UBP5.
CleanExi HS_HEY2.
Genevestigatori Q9UBP5.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
IPR003650. Orange.
IPR018352. Orange_subgr.
[Graphical view ]
Pfami PF07527. Hairy_orange. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
SM00511. ORANGE. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
PS51054. ORANGE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Hey genes: a novel subfamily of hairy- and enhancer of split related genes specifically expressed during mouse embryogenesis."
    Leimeister C., Externbrinck A., Klamt B., Gessler M.
    Mech. Dev. 85:173-177(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Gridlock, an HLH gene required for assembly of the aorta in zebrafish."
    Zhong T.P., Rosenberg M., Mohideen M.-A.P.K., Weinstein B., Fishman M.C.
    Science 287:1820-1824(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Heart.
  3. "Cardiovascular basic helix loop helix factor 1, a novel transcriptional repressor expressed preferentially in the developing and adult cardiovascular system."
    Chin M.T., Maemura K., Fukumoto S., Jain M.K., Layne M.D., Watanabe M., Hsieh C.-M., Lee M.-E.
    J. Biol. Chem. 275:6381-6387(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH ARNT.
    Tissue: Heart.
  4. "Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of Notch signaling."
    Nakagawa O., McFadden D.G., Nakagawa M., Yanagisawa H., Hu T., Srivastava D., Olson E.N.
    Proc. Natl. Acad. Sci. U.S.A. 97:13655-13660(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, DNA-BINDING.
  5. "HERP, a new primary target of Notch regulated by ligand binding."
    Iso T., Sartorelli V., Chung G., Shichinohe T., Kedes L., Hamamori Y.
    Mol. Cell. Biol. 21:6071-6079(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Heart.
  6. "Homo sapiens testis cDNA clone, basic-helix-loop-helix protein (Hey2)."
    Tanaka K., Miyata J., Ikeda J.
    Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Testis.
  7. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  8. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lung.
  10. "Hairy-related transcription factors inhibit GATA-dependent cardiac gene expression through a signal-responsive mechanism."
    Kathiriya I.S., King I.N., Murakami M., Nakagawa M., Astle J.M., Gardner K.A., Gerard R.D., Olson E.N., Srivastava D., Nakagawa O.
    J. Biol. Chem. 279:54937-54943(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  11. "CHF1/Hey2 suppresses SM-MHC promoter activity through an interaction with GATA-6."
    Shirvani S., Xiang F., Koibuchi N., Chin M.T.
    Biochem. Biophys. Res. Commun. 339:151-156(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH GATA6, MUTAGENESIS OF GLY-54.
  12. Cited for: VARIANTS ALA-96; ALA-98 AND SER-100.

Entry informationi

Entry nameiHEY2_HUMAN
AccessioniPrimary (citable) accession number: Q9UBP5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: May 1, 2000
Last modified: September 3, 2014
This is version 118 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 6
    Human chromosome 6: 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

External Data

Dasty 3

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