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Q6P1X5

- TAF2_HUMAN

UniProt

Q6P1X5 - TAF2_HUMAN

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Protein

Transcription initiation factor TFIID subunit 2

Gene

TAF2

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

Functioni

Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. It requires core promoter-specific cofactors for productive transcription stimulation. TAF2 stabilizes TFIID binding to core promoter.2 Publications

GO - Molecular functioni

  1. metallopeptidase activity Source: InterPro
  2. transcription regulatory region DNA binding Source: UniProtKB
  3. zinc ion binding Source: InterPro

GO - Biological processi

  1. G2/M transition of mitotic cell cycle Source: UniProtKB
  2. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  3. response to organic cyclic compound Source: Ensembl
  4. transcription initiation from RNA polymerase II promoter Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Protein family/group databases

MEROPSiM01.972.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription initiation factor TFIID subunit 2
Alternative name(s):
150 kDa cofactor of initiator function
RNA polymerase II TBP-associated factor subunit B
TBP-associated factor 150 kDa
Transcription initiation factor TFIID 150 kDa subunit
Short name:
TAF(II)150
Short name:
TAFII-150
Short name:
TAFII150
Gene namesi
Name:TAF2
Synonyms:CIF150, TAF2B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:11536. TAF2.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. transcription factor TFIID complex Source: UniProtKB
  2. transcription factor TFTC complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 40 (MRT40) [MIM:615599]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT40 affected individuals also show microcephaly, spasticity, thin corpus callosum, pyramidal signs.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti186 – 1861T → R in MRT40; unknown pathological significance. 1 Publication
VAR_070945
Natural varianti416 – 4161P → H in MRT40; unknown pathological significance. 1 Publication
VAR_070946
Natural varianti649 – 6491W → R in MRT40.
VAR_070947

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MIMi615599. phenotype.
Orphaneti397951. Microcephaly-thin corpus callosum-intellectual disability syndrome.
PharmGKBiPA36311.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11991199Transcription initiation factor TFIID subunit 2PRO_0000252424Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1185 – 11851Phosphoserine1 Publication
Modified residuei1188 – 11881Phosphoserine1 Publication
Modified residuei1194 – 11941Phosphoserine1 Publication
Modified residuei1196 – 11961Phosphoserine1 Publication
Modified residuei1198 – 11981Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ6P1X5.
PaxDbiQ6P1X5.
PRIDEiQ6P1X5.

PTM databases

PhosphoSiteiQ6P1X5.

Expressioni

Tissue specificityi

Expressed in all tissues tested.1 Publication

Gene expression databases

BgeeiQ6P1X5.
CleanExiHS_TAF2.
ExpressionAtlasiQ6P1X5. baseline and differential.
GenevestigatoriQ6P1X5.

Interactioni

Subunit structurei

Component of transcription factor TFIID which is composed of TBP and a number of TBP-associated factors. Interacts with TAF2C1. Component of the TFTC-HAT complex.3 Publications

Protein-protein interaction databases

BioGridi112736. 20 interactions.
IntActiQ6P1X5. 5 interactions.
STRINGi9606.ENSP00000367406.

Structurei

3D structure databases

ProteinModelPortaliQ6P1X5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi600 – 6034Poly-Lys
Compositional biasi1143 – 117129His-richAdd
BLAST
Compositional biasi1155 – 117824Lys-richAdd
BLAST

Sequence similaritiesi

Belongs to the TAF2 family.Curated

Phylogenomic databases

eggNOGiCOG0308.
GeneTreeiENSGT00390000000420.
HOVERGENiHBG094022.
InParanoidiQ6P1X5.
KOiK03128.
OMAiCHSESKQ.
OrthoDBiEOG7R2BHS.
PhylomeDBiQ6P1X5.
TreeFamiTF315208.

Family and domain databases

InterProiIPR016024. ARM-type_fold.
IPR014782. Peptidase_M1_N.
[Graphical view]
PfamiPF01433. Peptidase_M1. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.

Sequencei

Sequence statusi: Complete.

Q6P1X5-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MPLTGVEPAR MNRKKGDKGF ESPRPYKLTH QVVCINNINF QRKSVVGFVE
60 70 80 90 100
LTIFPTVANL NRIKLNSKQC RIYRVRINDL EAAFIYNDPT LEVCHSESKQ
110 120 130 140 150
RNLNYFSNAY AAAVSAVDPD AGNGELCIKV PSELWKHVDE LKVLKIHINF
160 170 180 190 200
SLDQPKGGLH FVVPSVEGSM AERGAHVFSC GYQNSTRFWF PCVDSYSELC
210 220 230 240 250
TWKLEFTVDA AMVAVSNGDL VETVYTHDMR KKTFHYMLTI PTAASNISLA
260 270 280 290 300
IGPFEILVDP YMHEVTHFCL PQLLPLLKHT TSYLHEVFEF YEEILTCRYP
310 320 330 340 350
YSCFKTVFID EAYVEVAAYA SMSIFSTNLL HSAMIIDETP LTRRCLAQSL
360 370 380 390 400
AQQFFGCFIS RMSWSDEWVL KGISGYIYGL WMKKTFGVNE YRHWIKEELD
410 420 430 440 450
KIVAYELKTG GVLLHPIFGG GKEKDNPASH LHFSIKHPHT LSWEYYSMFQ
460 470 480 490 500
CKAHLVMRLI ENRISMEFML QVFNKLLSLA STASSQKFQS HMWSQMLVST
510 520 530 540 550
SGFLKSISNV SGKDIQPLIK QWVDQSGVVK FYGSFAFNRK RNVLELEIKQ
560 570 580 590 600
DYTSPGTQKY VGPLKVTVQE LDGSFNHTLQ IEENSLKHDI PCHSKSRRNK
610 620 630 640 650
KKKIPLMNGE EVDMDLSAMD ADSPLLWIRI DPDMSVLRKV EFEQADFMWQ
660 670 680 690 700
YQLRYERDVV AQQESILALE KFPTPASRLA LTDILEQEQC FYRVRMSACF
710 720 730 740 750
CLAKIANSMV STWTGPPAMK SLFTRMFCCK SCPNIVKTNN FMSFQSYFLQ
760 770 780 790 800
KTMPVAMALL RDVHNLCPKE VLTFILDLIK YNDNRKNKFS DNYYRAEMID
810 820 830 840 850
ALANSVTPAV SVNNEVRTLD NLNPDVRLIL EEITRFLNME KLLPSYRHTI
860 870 880 890 900
TVSCLRAIRV LQKNGHVPSD PALFKSYAEY GHFVDIRIAA LEAVVDYTKV
910 920 930 940 950
DRSYEELQWL LNMIQNDPVP YVRHKILNML TKNPPFTKNM ESPLCNEALV
960 970 980 990 1000
DQLWKLMNSG TSHDWRLRCG AVDLYFTLFG LSRPSCLPLP ELGLVLNLKE
1010 1020 1030 1040 1050
KKAVLNPTII PESVAGNQEA ANNPSSHPQL VGFQNPFSSS QDEEEIDMDT
1060 1070 1080 1090 1100
VHDSQAFISH HLNMLERPST PGLSKYRPAS SRSALIPQHS AGCDSTPTTK
1110 1120 1130 1140 1150
PQWSLELARK GTGKEQAPLE MSMHPAASAP LSVFTKESTA SKHSDHHHHH
1160 1170 1180 1190
HHEHKKKKKK HKHKHKHKHK HDSKEKDKEP FTFSSPASGR SIRSPSLSD
Length:1,199
Mass (Da):136,971
Last modified:April 17, 2007 - v3
Checksum:i169DA4A3878CFD59
GO

Sequence cautioni

The sequence AAH64830.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
The sequence AAC68502.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1 – 11M → R(PubMed:9774672)Curated
Sequence conflicti41 – 411Q → H in AAC02966. (PubMed:9418870)Curated
Sequence conflicti131 – 1311P → L in AAH47732. (PubMed:15489334)Curated
Sequence conflicti158 – 1581G → C in AAH64830. (PubMed:15489334)Curated
Sequence conflicti604 – 6041I → K in AAH35673. (PubMed:15489334)Curated
Sequence conflicti604 – 6041I → K in AAH47732. (PubMed:15489334)Curated
Sequence conflicti785 – 7851R → G in AAC68502. (PubMed:9774672)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81P → L.
Corresponds to variant rs17818842 [ dbSNP | Ensembl ].
VAR_027854
Natural varianti186 – 1861T → R in MRT40; unknown pathological significance. 1 Publication
VAR_070945
Natural varianti416 – 4161P → H in MRT40; unknown pathological significance. 1 Publication
VAR_070946
Natural varianti447 – 4471S → T.4 Publications
Corresponds to variant rs9297605 [ dbSNP | Ensembl ].
VAR_027855
Natural varianti649 – 6491W → R in MRT40.
VAR_070947
Natural varianti686 – 6861E → K.
Corresponds to variant rs34154779 [ dbSNP | Ensembl ].
VAR_057263
Natural varianti1122 – 11221S → N.
Corresponds to variant rs956749 [ dbSNP | Ensembl ].
VAR_027856
Natural varianti1139 – 11391T → A.
Corresponds to variant rs956748 [ dbSNP | Ensembl ].
VAR_027857

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF026445 mRNA. Translation: AAC02966.1.
AF040701 mRNA. Translation: AAC68502.1. Different initiation.
AF057694 mRNA. Translation: AAC13540.1.
AK316592 mRNA. Translation: BAG38179.1.
AC107960 Genomic DNA. No translation available.
AC021945 Genomic DNA. No translation available.
BC035673 mRNA. Translation: AAH35673.1.
BC047732 mRNA. Translation: AAH47732.1.
BC064830 mRNA. Translation: AAH64830.1. Sequence problems.
CCDSiCCDS34937.1.
RefSeqiNP_003175.1. NM_003184.3.
UniGeneiHs.122752.

Genome annotation databases

EnsembliENST00000378164; ENSP00000367406; ENSG00000064313.
GeneIDi6873.
KEGGihsa:6873.
UCSCiuc003you.3. human.

Polymorphism databases

DMDMi145559533.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF026445 mRNA. Translation: AAC02966.1 .
AF040701 mRNA. Translation: AAC68502.1 . Different initiation.
AF057694 mRNA. Translation: AAC13540.1 .
AK316592 mRNA. Translation: BAG38179.1 .
AC107960 Genomic DNA. No translation available.
AC021945 Genomic DNA. No translation available.
BC035673 mRNA. Translation: AAH35673.1 .
BC047732 mRNA. Translation: AAH47732.1 .
BC064830 mRNA. Translation: AAH64830.1 . Sequence problems.
CCDSi CCDS34937.1.
RefSeqi NP_003175.1. NM_003184.3.
UniGenei Hs.122752.

3D structure databases

ProteinModelPortali Q6P1X5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112736. 20 interactions.
IntActi Q6P1X5. 5 interactions.
STRINGi 9606.ENSP00000367406.

Protein family/group databases

MEROPSi M01.972.

PTM databases

PhosphoSitei Q6P1X5.

Polymorphism databases

DMDMi 145559533.

Proteomic databases

MaxQBi Q6P1X5.
PaxDbi Q6P1X5.
PRIDEi Q6P1X5.

Protocols and materials databases

DNASUi 6873.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000378164 ; ENSP00000367406 ; ENSG00000064313 .
GeneIDi 6873.
KEGGi hsa:6873.
UCSCi uc003you.3. human.

Organism-specific databases

CTDi 6873.
GeneCardsi GC08M120743.
HGNCi HGNC:11536. TAF2.
MIMi 604912. gene.
615599. phenotype.
neXtProti NX_Q6P1X5.
Orphaneti 397951. Microcephaly-thin corpus callosum-intellectual disability syndrome.
PharmGKBi PA36311.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0308.
GeneTreei ENSGT00390000000420.
HOVERGENi HBG094022.
InParanoidi Q6P1X5.
KOi K03128.
OMAi CHSESKQ.
OrthoDBi EOG7R2BHS.
PhylomeDBi Q6P1X5.
TreeFami TF315208.

Miscellaneous databases

ChiTaRSi TAF2. human.
GeneWikii TAF2.
GenomeRNAii 6873.
NextBioi 26833.
PROi Q6P1X5.
SOURCEi Search...

Gene expression databases

Bgeei Q6P1X5.
CleanExi HS_TAF2.
ExpressionAtlasi Q6P1X5. baseline and differential.
Genevestigatori Q6P1X5.

Family and domain databases

InterProi IPR016024. ARM-type_fold.
IPR014782. Peptidase_M1_N.
[Graphical view ]
Pfami PF01433. Peptidase_M1. 1 hit.
[Graphical view ]
SUPFAMi SSF48371. SSF48371. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "CIF150, a human cofactor for transcription factor IID-dependent initiator function."
    Kaufmann J., Ahrens K., Koop R., Smale S.T., Muller R.
    Mol. Cell. Biol. 18:233-239(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT THR-447, FUNCTION, INTERACTION WITH TAF2C1.
  2. "Novel cofactors and TFIIA mediate functional core promoter selectivity by the human TAFII150-containing TFIID complex."
    Martinez E., Ge H., Tao Y., Yuan C.-X., Palhan V., Roeder R.G.
    Mol. Cell. Biol. 18:6571-6583(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT THR-447, FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE TFIID COMPLEX, TISSUE SPECIFICITY.
    Tissue: Cervix carcinoma.
  3. "Human TBP-associated factor (TAFII150)."
    Guermah M., Roeder R.G.R.
    Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT THR-447.
    Tissue: Cervix carcinoma.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Trachea.
  5. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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] OF 1-604, VARIANT THR-447.
    Tissue: Duodenum and Uterus.
  7. "Novel subunits of the TATA binding protein free TAFII-containing transcription complex identified by matrix-assisted laser desorption/ionization-time of flight mass spectrometry following one-dimensional gel electrophoresis."
    Cavusoglu N., Brand M., Tora L., van Dorsselaer A.
    Proteomics 3:217-223(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE TFTC-HAT COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
  8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1194; SER-1196 AND SER-1198, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1185 AND SER-1188, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. Cited for: VARANT MRT40 ARG-649.
  11. Cited for: VARIANTS MRT40 ARG-186 AND HIS-416.

Entry informationi

Entry nameiTAF2_HUMAN
AccessioniPrimary (citable) accession number: Q6P1X5
Secondary accession number(s): B2RE82
, O43487, O43604, O60668, Q86WW7, Q8IWK4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: April 17, 2007
Last modified: October 29, 2014
This is version 93 of the entry and version 3 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

Miscellaneous

PubMed:9418870 was unable to show an association between TAF2 and TFIID.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: 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