Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P51531

- SMCA2_HUMAN

UniProt

P51531 - SMCA2_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Probable global transcription activator SNF2L2

Gene

SMARCA2

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

Functioni

Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional activation. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi749 – 7568ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. DNA-dependent ATPase activity Source: BHF-UCL
  3. helicase activity Source: ProtInc
  4. RNA polymerase II transcription coactivator activity Source: UniProtKB
  5. transcription coactivator activity Source: ProtInc
  6. transcription regulatory region DNA binding Source: UniProtKB

GO - Biological processi

  1. aortic smooth muscle cell differentiation Source: Ensembl
  2. ATP catabolic process Source: GOC
  3. chromatin remodeling Source: BHF-UCL
  4. negative regulation of cell growth Source: BHF-UCL
  5. negative regulation of cell proliferation Source: Ensembl
  6. negative regulation of transcription, DNA-templated Source: BHF-UCL
  7. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  8. nervous system development Source: UniProtKB-KW
  9. positive regulation of transcription, DNA-templated Source: UniProtKB
  10. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  11. regulation of transcription, DNA-templated Source: ProtInc
  12. regulation of transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Activator, Helicase, Hydrolase

Keywords - Biological processi

Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

ATP-binding, DNA-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Probable global transcription activator SNF2L2 (EC:3.6.4.-)
Alternative name(s):
ATP-dependent helicase SMARCA2
BRG1-associated factor 190B
Short name:
BAF190B
Protein brahma homolog
Short name:
hBRM
SNF2-alpha
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2
Gene namesi
Name:SMARCA2
Synonyms:BAF190B, BRM, SNF2A, SNF2L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:11098. SMARCA2.

Subcellular locationi

GO - Cellular componenti

  1. intermediate filament cytoskeleton Source: HPA
  2. intracellular membrane-bounded organelle Source: HPA
  3. nBAF complex Source: UniProtKB
  4. npBAF complex Source: UniProtKB
  5. nuclear chromatin Source: BHF-UCL
  6. nucleoplasm Source: ProtInc
  7. nucleus Source: UniProtKB
  8. SWI/SNF complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]: A rare disorder characterized by severe mental retardation with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some of the features are progressive with time.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti752 – 7521G → A in NCBRS. 1 Publication
Corresponds to variant rs281875198 [ dbSNP | Ensembl ].
VAR_068180
Natural varianti755 – 7551K → R in NCBRS. 1 Publication
Corresponds to variant rs281875203 [ dbSNP | Ensembl ].
VAR_068181
Natural varianti756 – 7561T → I in NCBRS. 1 Publication
Corresponds to variant rs281875191 [ dbSNP | Ensembl ].
VAR_068182
Natural varianti851 – 8511D → H in NCBRS. 1 Publication
Corresponds to variant rs281875206 [ dbSNP | Ensembl ].
VAR_068183
Natural varianti852 – 8521E → D in NCBRS. 1 Publication
Corresponds to variant rs281875193 [ dbSNP | Ensembl ].
VAR_068184
Natural varianti852 – 8521E → K in NCBRS. 1 Publication
Corresponds to variant rs281875199 [ dbSNP | Ensembl ].
VAR_068185
Natural varianti854 – 8541H → N in NCBRS. 1 Publication
VAR_068186
Natural varianti854 – 8541H → R in NCBRS. 1 Publication
Corresponds to variant rs281875202 [ dbSNP | Ensembl ].
VAR_068187
Natural varianti855 – 8551R → G in NCBRS. 1 Publication
Corresponds to variant rs281875207 [ dbSNP | Ensembl ].
VAR_068188
Natural varianti881 – 8811G → R in NCBRS. 1 Publication
Corresponds to variant rs281875194 [ dbSNP | Ensembl ].
VAR_068189
Natural varianti881 – 8811G → V in NCBRS. 1 Publication
Corresponds to variant rs281875185 [ dbSNP | Ensembl ].
VAR_068190
Natural varianti883 – 8831P → L in NCBRS. 1 Publication
Corresponds to variant rs281875188 [ dbSNP | Ensembl ].
VAR_068191
Natural varianti939 – 9391H → Y in NCBRS. 1 Publication
Corresponds to variant rs281875190 [ dbSNP | Ensembl ].
VAR_068192
Natural varianti946 – 9461L → F in NCBRS. 1 Publication
Corresponds to variant rs281875205 [ dbSNP | Ensembl ].
VAR_068193
Natural varianti946 – 9461L → S in NCBRS. 1 Publication
Corresponds to variant rs281875200 [ dbSNP | Ensembl ].
VAR_068194
Natural varianti1105 – 11051R → C in NCBRS. 1 Publication
Corresponds to variant rs281875192 [ dbSNP | Ensembl ].
VAR_068195
Natural varianti1105 – 11051R → P in NCBRS. 1 Publication
Corresponds to variant rs281875197 [ dbSNP | Ensembl ].
VAR_068196
Natural varianti1135 – 11351L → P in NCBRS. 1 Publication
Corresponds to variant rs281875195 [ dbSNP | Ensembl ].
VAR_068197
Natural varianti1146 – 11461S → R in NCBRS. 1 Publication
Corresponds to variant rs281875204 [ dbSNP | Ensembl ].
VAR_068198
Natural varianti1158 – 11581D → V in NCBRS. 1 Publication
Corresponds to variant rs281875240 [ dbSNP | Ensembl ].
VAR_068199
Natural varianti1159 – 11591R → G in NCBRS. 1 Publication
Corresponds to variant rs281875184 [ dbSNP | Ensembl ].
VAR_068200
Natural varianti1159 – 11591R → L in NCBRS. 1 Publication
Corresponds to variant rs281875187 [ dbSNP | Ensembl ].
VAR_068201
Natural varianti1159 – 11591R → Q in NCBRS. 1 Publication
Corresponds to variant rs281875187 [ dbSNP | Ensembl ].
VAR_068202
Natural varianti1162 – 11621R → H in NCBRS. 1 Publication
Corresponds to variant rs281875186 [ dbSNP | Ensembl ].
VAR_068203
Natural varianti1188 – 11881A → P in NCBRS. 1 Publication
Corresponds to variant rs281875196 [ dbSNP | Ensembl ].
VAR_068204
Natural varianti1201 – 12011A → V in NCBRS. 1 Publication
Corresponds to variant rs281875189 [ dbSNP | Ensembl ].
VAR_068205
Natural varianti1202 – 12021G → C in NCBRS. 1 Publication
Corresponds to variant rs281875239 [ dbSNP | Ensembl ].
VAR_068206
Natural varianti1205 – 12051D → G in NCBRS. 1 Publication
Corresponds to variant rs281875201 [ dbSNP | Ensembl ].
VAR_068207
Natural varianti1213 – 12131R → W in NCBRS. 1 Publication
Corresponds to variant rs281875238 [ dbSNP | Ensembl ].
VAR_068208

Keywords - Diseasei

Disease mutation, Hypotrichosis, Mental retardation

Organism-specific databases

MIMi601358. phenotype.
Orphaneti3051. intellectual disability - sparse hair - brachydactyly.
PharmGKBiPA35948.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 15901590Probable global transcription activator SNF2L2PRO_0000074352Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei175 – 1751Phosphoserine2 Publications
Modified residuei329 – 3291Phosphoserine2 Publications
Modified residuei604 – 6041N6-acetyllysineBy similarity
Modified residuei997 – 9971N6-acetyllysine1 Publication
Modified residuei999 – 9991N6-acetyllysine1 Publication
Modified residuei1512 – 15121Phosphoserine2 Publications
Modified residuei1516 – 15161Phosphoserine2 Publications
Modified residuei1528 – 15281Phosphoserine1 Publication
Modified residuei1568 – 15681Phosphoserine3 Publications
Modified residuei1572 – 15721Phosphoserine3 Publications

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiP51531.
PaxDbiP51531.
PRIDEiP51531.

PTM databases

PhosphoSiteiP51531.

Miscellaneous databases

PMAP-CutDBP51531.

Expressioni

Gene expression databases

BgeeiP51531.
CleanExiHS_SMARCA2.
ExpressionAtlasiP51531. baseline and differential.
GenevestigatoriP51531.

Organism-specific databases

HPAiCAB037276.
HPA029981.

Interactioni

Subunit structurei

Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Component of the WINAC complex, at least composed of SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B. Binds TOPBP1. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin. Interacts with PHF10/BAF45A (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
P043268EBI-679562,EBI-7333987From a different organism.
ARID1AO144973EBI-679562,EBI-637887
ARID1BQ8NFD53EBI-679562,EBI-679921
KHDRBS1Q076662EBI-679562,EBI-1364
MECP2P516084EBI-679562,EBI-1189067

Protein-protein interaction databases

BioGridi112479. 97 interactions.
DIPiDIP-29005N.
IntActiP51531. 24 interactions.
MINTiMINT-1898892.
STRINGi9606.ENSP00000265773.

Structurei

Secondary structure

1
1590
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi1381 – 139616Combined sources
Beta strandi1418 – 14203Combined sources
Helixi1424 – 14274Combined sources
Turni1433 – 14353Combined sources
Helixi1438 – 14425Combined sources
Helixi1449 – 14568Combined sources
Turni1457 – 14593Combined sources
Helixi1464 – 148118Combined sources
Helixi1487 – 150418Combined sources

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2DATNMR-A1377-1504[»]
ProteinModelPortaliP51531.
SMRiP51531. Positions 665-1202, 1378-1504.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP51531.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini173 – 20836QLQPROSITE-ProRule annotationAdd
BLAST
Domaini436 – 50873HSAPROSITE-ProRule annotationAdd
BLAST
Domaini736 – 901166Helicase ATP-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini1054 – 1216163Helicase C-terminalPROSITE-ProRule annotationAdd
BLAST
Domaini1419 – 148971BromoPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi851 – 8544DEGH box

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi216 – 23823Poly-GlnAdd
BLAST
Compositional biasi245 – 2539Poly-Gln
Compositional biasi559 – 5624Poly-Arg
Compositional biasi643 – 6508Poly-Glu
Compositional biasi1297 – 13015Poly-Glu
Compositional biasi1518 – 152912Poly-GluAdd
BLAST

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated
Contains 1 bromo domain.PROSITE-ProRule annotation
Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation
Contains 1 HSA domain.PROSITE-ProRule annotation
Contains 1 QLQ domain.PROSITE-ProRule annotation

Keywords - Domaini

Bromodomain

Phylogenomic databases

eggNOGiCOG0553.
GeneTreeiENSGT00550000074659.
HOGENOMiHOG000172363.
HOVERGENiHBG056636.
InParanoidiP51531.
KOiK11647.
OMAiNYKDRCN.
PhylomeDBiP51531.
TreeFamiTF300785.

Family and domain databases

Gene3Di1.20.920.10. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR006576. BRK_domain.
IPR001487. Bromodomain.
IPR018359. Bromodomain_CS.
IPR014978. Gln-Leu-Gln_QLQ.
IPR013999. HAS_subgr.
IPR014012. Helicase/SANT-assoc_DNA-bd.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR029295. SnAC.
IPR000330. SNF2_N.
[Graphical view]
PfamiPF07533. BRK. 1 hit.
PF00439. Bromodomain. 1 hit.
PF00271. Helicase_C. 1 hit.
PF07529. HSA. 1 hit.
PF08880. QLQ. 1 hit.
PF14619. SnAC. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view]
PRINTSiPR00503. BROMODOMAIN.
SMARTiSM00592. BRK. 1 hit.
SM00297. BROMO. 1 hit.
SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00573. HSA. 1 hit.
SM00951. QLQ. 1 hit.
[Graphical view]
SUPFAMiSSF47370. SSF47370. 1 hit.
SSF52540. SSF52540. 2 hits.
PROSITEiPS00633. BROMODOMAIN_1. 1 hit.
PS50014. BROMODOMAIN_2. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS51204. HSA. 1 hit.
PS51666. QLQ. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform Long (identifier: P51531-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' 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
MSTPTDPGAM PHPGPSPGPG PSPGPILGPS PGPGPSPGSV HSMMGPSPGP
60 70 80 90 100
PSVSHPMPTM GSTDFPQEGM HQMHKPIDGI HDKGIVEDIH CGSMKGTGMR
110 120 130 140 150
PPHPGMGPPQ SPMDQHSQGY MSPHPSPLGA PEHVSSPMSG GGPTPPQMPP
160 170 180 190 200
SQPGALIPGD PQAMSQPNRG PSPFSPVQLH QLRAQILAYK MLARGQPLPE
210 220 230 240 250
TLQLAVQGKR TLPGLQQQQQ QQQQQQQQQQ QQQQQQQQPQ QQPPQPQTQQ
260 270 280 290 300
QQQPALVNYN RPSGPGPELS GPSTPQKLPV PAPGGRPSPA PPAAAQPPAA
310 320 330 340 350
AVPGPSVPQP APGQPSPVLQ LQQKQSRISP IQKPQGLDPV EILQEREYRL
360 370 380 390 400
QARIAHRIQE LENLPGSLPP DLRTKATVEL KALRLLNFQR QLRQEVVACM
410 420 430 440 450
RRDTTLETAL NSKAYKRSKR QTLREARMTE KLEKQQKIEQ ERKRRQKHQE
460 470 480 490 500
YLNSILQHAK DFKEYHRSVA GKIQKLSKAV ATWHANTERE QKKETERIEK
510 520 530 540 550
ERMRRLMAED EEGYRKLIDQ KKDRRLAYLL QQTDEYVANL TNLVWEHKQA
560 570 580 590 600
QAAKEKKKRR RRKKKAEENA EGGESALGPD GEPIDESSQM SDLPVKVTHT
610 620 630 640 650
ETGKVLFGPE APKASQLDAW LEMNPGYEVA PRSDSEESDS DYEEEDEEEE
660 670 680 690 700
SSRQETEEKI LLDPNSEEVS EKDAKQIIET AKQDVDDEYS MQYSARGSQS
710 720 730 740 750
YYTVAHAISE RVEKQSALLI NGTLKHYQLQ GLEWMVSLYN NNLNGILADE
760 770 780 790 800
MGLGKTIQTI ALITYLMEHK RLNGPYLIIV PLSTLSNWTY EFDKWAPSVV
810 820 830 840 850
KISYKGTPAM RRSLVPQLRS GKFNVLLTTY EYIIKDKHIL AKIRWKYMIV
860 870 880 890 900
DEGHRMKNHH CKLTQVLNTH YVAPRRILLT GTPLQNKLPE LWALLNFLLP
910 920 930 940 950
TIFKSCSTFE QWFNAPFAMT GERVDLNEEE TILIIRRLHK VLRPFLLRRL
960 970 980 990 1000
KKEVESQLPE KVEYVIKCDM SALQKILYRH MQAKGILLTD GSEKDKKGKG
1010 1020 1030 1040 1050
GAKTLMNTIM QLRKICNHPY MFQHIEESFA EHLGYSNGVI NGAELYRASG
1060 1070 1080 1090 1100
KFELLDRILP KLRATNHRVL LFCQMTSLMT IMEDYFAFRN FLYLRLDGTT
1110 1120 1130 1140 1150
KSEDRAALLK KFNEPGSQYF IFLLSTRAGG LGLNLQAADT VVIFDSDWNP
1160 1170 1180 1190 1200
HQDLQAQDRA HRIGQQNEVR VLRLCTVNSV EEKILAAAKY KLNVDQKVIQ
1210 1220 1230 1240 1250
AGMFDQKSSS HERRAFLQAI LEHEEENEEE DEVPDDETLN QMIARREEEF
1260 1270 1280 1290 1300
DLFMRMDMDR RREDARNPKR KPRLMEEDEL PSWIIKDDAE VERLTCEEEE
1310 1320 1330 1340 1350
EKIFGRGSRQ RRDVDYSDAL TEKQWLRAIE DGNLEEMEEE VRLKKRKRRR
1360 1370 1380 1390 1400
NVDKDPAKED VEKAKKRRGR PPAEKLSPNP PKLTKQMNAI IDTVINYKDR
1410 1420 1430 1440 1450
CNVEKVPSNS QLEIEGNSSG RQLSEVFIQL PSRKELPEYY ELIRKPVDFK
1460 1470 1480 1490 1500
KIKERIRNHK YRSLGDLEKD VMLLCHNAQT FNLEGSQIYE DSIVLQSVFK
1510 1520 1530 1540 1550
SARQKIAKEE ESEDESNEEE EEEDEEESES EAKSVKVKIK LNKKDDKGRD
1560 1570 1580 1590
KGKGKKRPNR GKAKPVVSDF DSDEEQDERE QSEGSGTDDE
Length:1,590
Mass (Da):181,279
Last modified:November 4, 2008 - v2
Checksum:iCE69BBB287D35AB5
GO
Isoform Short (identifier: P51531-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1400-1417: Missing.

Show »
Length:1,572
Mass (Da):179,281
Checksum:iBBD4488C2861C270
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti237 – 2404Missing in CAA51407. (PubMed:8223438)Curated
Sequence conflicti394 – 3941Q → E in BAA05142. (PubMed:8208605)Curated
Sequence conflicti513 – 5131G → S in BAA05142. (PubMed:8208605)Curated
Sequence conflicti711 – 7111R → W in CAA51407. (PubMed:8223438)Curated
Sequence conflicti1139 – 11391D → H in BAA05142. (PubMed:8208605)Curated
Sequence conflicti1394 – 13941V → C in CAA51407. (PubMed:8223438)Curated
Sequence conflicti1400 – 14001R → S in CAA51407. (PubMed:8223438)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti752 – 7521G → A in NCBRS. 1 Publication
Corresponds to variant rs281875198 [ dbSNP | Ensembl ].
VAR_068180
Natural varianti755 – 7551K → R in NCBRS. 1 Publication
Corresponds to variant rs281875203 [ dbSNP | Ensembl ].
VAR_068181
Natural varianti756 – 7561T → I in NCBRS. 1 Publication
Corresponds to variant rs281875191 [ dbSNP | Ensembl ].
VAR_068182
Natural varianti851 – 8511D → H in NCBRS. 1 Publication
Corresponds to variant rs281875206 [ dbSNP | Ensembl ].
VAR_068183
Natural varianti852 – 8521E → D in NCBRS. 1 Publication
Corresponds to variant rs281875193 [ dbSNP | Ensembl ].
VAR_068184
Natural varianti852 – 8521E → K in NCBRS. 1 Publication
Corresponds to variant rs281875199 [ dbSNP | Ensembl ].
VAR_068185
Natural varianti854 – 8541H → N in NCBRS. 1 Publication
VAR_068186
Natural varianti854 – 8541H → R in NCBRS. 1 Publication
Corresponds to variant rs281875202 [ dbSNP | Ensembl ].
VAR_068187
Natural varianti855 – 8551R → G in NCBRS. 1 Publication
Corresponds to variant rs281875207 [ dbSNP | Ensembl ].
VAR_068188
Natural varianti881 – 8811G → R in NCBRS. 1 Publication
Corresponds to variant rs281875194 [ dbSNP | Ensembl ].
VAR_068189
Natural varianti881 – 8811G → V in NCBRS. 1 Publication
Corresponds to variant rs281875185 [ dbSNP | Ensembl ].
VAR_068190
Natural varianti883 – 8831P → L in NCBRS. 1 Publication
Corresponds to variant rs281875188 [ dbSNP | Ensembl ].
VAR_068191
Natural varianti939 – 9391H → Y in NCBRS. 1 Publication
Corresponds to variant rs281875190 [ dbSNP | Ensembl ].
VAR_068192
Natural varianti946 – 9461L → F in NCBRS. 1 Publication
Corresponds to variant rs281875205 [ dbSNP | Ensembl ].
VAR_068193
Natural varianti946 – 9461L → S in NCBRS. 1 Publication
Corresponds to variant rs281875200 [ dbSNP | Ensembl ].
VAR_068194
Natural varianti1105 – 11051R → C in NCBRS. 1 Publication
Corresponds to variant rs281875192 [ dbSNP | Ensembl ].
VAR_068195
Natural varianti1105 – 11051R → P in NCBRS. 1 Publication
Corresponds to variant rs281875197 [ dbSNP | Ensembl ].
VAR_068196
Natural varianti1135 – 11351L → P in NCBRS. 1 Publication
Corresponds to variant rs281875195 [ dbSNP | Ensembl ].
VAR_068197
Natural varianti1146 – 11461S → R in NCBRS. 1 Publication
Corresponds to variant rs281875204 [ dbSNP | Ensembl ].
VAR_068198
Natural varianti1158 – 11581D → V in NCBRS. 1 Publication
Corresponds to variant rs281875240 [ dbSNP | Ensembl ].
VAR_068199
Natural varianti1159 – 11591R → G in NCBRS. 1 Publication
Corresponds to variant rs281875184 [ dbSNP | Ensembl ].
VAR_068200
Natural varianti1159 – 11591R → L in NCBRS. 1 Publication
Corresponds to variant rs281875187 [ dbSNP | Ensembl ].
VAR_068201
Natural varianti1159 – 11591R → Q in NCBRS. 1 Publication
Corresponds to variant rs281875187 [ dbSNP | Ensembl ].
VAR_068202
Natural varianti1162 – 11621R → H in NCBRS. 1 Publication
Corresponds to variant rs281875186 [ dbSNP | Ensembl ].
VAR_068203
Natural varianti1188 – 11881A → P in NCBRS. 1 Publication
Corresponds to variant rs281875196 [ dbSNP | Ensembl ].
VAR_068204
Natural varianti1201 – 12011A → V in NCBRS. 1 Publication
Corresponds to variant rs281875189 [ dbSNP | Ensembl ].
VAR_068205
Natural varianti1202 – 12021G → C in NCBRS. 1 Publication
Corresponds to variant rs281875239 [ dbSNP | Ensembl ].
VAR_068206
Natural varianti1205 – 12051D → G in NCBRS. 1 Publication
Corresponds to variant rs281875201 [ dbSNP | Ensembl ].
VAR_068207
Natural varianti1213 – 12131R → W in NCBRS. 1 Publication
Corresponds to variant rs281875238 [ dbSNP | Ensembl ].
VAR_068208
Natural varianti1416 – 14161G → A.
Corresponds to variant rs3793510 [ dbSNP | Ensembl ].
VAR_049501
Natural varianti1546 – 15461D → E.
Corresponds to variant rs2296212 [ dbSNP | Ensembl ].
VAR_049502

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1400 – 141718Missing in isoform Short. 1 PublicationVSP_000577Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X72889 mRNA. Translation: CAA51407.1.
D26155 mRNA. Translation: BAA05142.1.
AL359076, AL138755 Genomic DNA. Translation: CAI12967.1.
AL359076, AL138755 Genomic DNA. Translation: CAI12968.1.
AL138755, AL359076 Genomic DNA. Translation: CAI14599.1.
AL138755, AL359076 Genomic DNA. Translation: CAI14600.1.
CH471071 Genomic DNA. Translation: EAW58811.1.
CH471071 Genomic DNA. Translation: EAW58813.1.
CH471071 Genomic DNA. Translation: EAW58814.1.
CH471071 Genomic DNA. Translation: EAW58815.1.
CCDSiCCDS34977.1. [P51531-1]
CCDS34978.1. [P51531-2]
PIRiS39580.
S45251.
RefSeqiNP_001276325.1. NM_001289396.1. [P51531-1]
NP_001276326.1. NM_001289397.1.
NP_003061.3. NM_003070.4. [P51531-1]
NP_620614.2. NM_139045.3. [P51531-2]
UniGeneiHs.298990.
Hs.644901.

Genome annotation databases

EnsembliENST00000349721; ENSP00000265773; ENSG00000080503. [P51531-1]
ENST00000357248; ENSP00000349788; ENSG00000080503. [P51531-2]
ENST00000382194; ENSP00000371629; ENSG00000080503. [P51531-2]
ENST00000382203; ENSP00000371638; ENSG00000080503. [P51531-1]
GeneIDi6595.
KEGGihsa:6595.
UCSCiuc003zhc.3. human. [P51531-1]
uc003zhd.3. human. [P51531-2]

Polymorphism databases

DMDMi212276472.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X72889 mRNA. Translation: CAA51407.1 .
D26155 mRNA. Translation: BAA05142.1 .
AL359076 , AL138755 Genomic DNA. Translation: CAI12967.1 .
AL359076 , AL138755 Genomic DNA. Translation: CAI12968.1 .
AL138755 , AL359076 Genomic DNA. Translation: CAI14599.1 .
AL138755 , AL359076 Genomic DNA. Translation: CAI14600.1 .
CH471071 Genomic DNA. Translation: EAW58811.1 .
CH471071 Genomic DNA. Translation: EAW58813.1 .
CH471071 Genomic DNA. Translation: EAW58814.1 .
CH471071 Genomic DNA. Translation: EAW58815.1 .
CCDSi CCDS34977.1. [P51531-1 ]
CCDS34978.1. [P51531-2 ]
PIRi S39580.
S45251.
RefSeqi NP_001276325.1. NM_001289396.1. [P51531-1 ]
NP_001276326.1. NM_001289397.1.
NP_003061.3. NM_003070.4. [P51531-1 ]
NP_620614.2. NM_139045.3. [P51531-2 ]
UniGenei Hs.298990.
Hs.644901.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2DAT NMR - A 1377-1504 [» ]
ProteinModelPortali P51531.
SMRi P51531. Positions 665-1202, 1378-1504.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112479. 97 interactions.
DIPi DIP-29005N.
IntActi P51531. 24 interactions.
MINTi MINT-1898892.
STRINGi 9606.ENSP00000265773.

Chemistry

ChEMBLi CHEMBL2362979.

PTM databases

PhosphoSitei P51531.

Polymorphism databases

DMDMi 212276472.

Proteomic databases

MaxQBi P51531.
PaxDbi P51531.
PRIDEi P51531.

Protocols and materials databases

DNASUi 6595.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000349721 ; ENSP00000265773 ; ENSG00000080503 . [P51531-1 ]
ENST00000357248 ; ENSP00000349788 ; ENSG00000080503 . [P51531-2 ]
ENST00000382194 ; ENSP00000371629 ; ENSG00000080503 . [P51531-2 ]
ENST00000382203 ; ENSP00000371638 ; ENSG00000080503 . [P51531-1 ]
GeneIDi 6595.
KEGGi hsa:6595.
UCSCi uc003zhc.3. human. [P51531-1 ]
uc003zhd.3. human. [P51531-2 ]

Organism-specific databases

CTDi 6595.
GeneCardsi GC09P002005.
HGNCi HGNC:11098. SMARCA2.
HPAi CAB037276.
HPA029981.
MIMi 600014. gene.
601358. phenotype.
neXtProti NX_P51531.
Orphaneti 3051. intellectual disability - sparse hair - brachydactyly.
PharmGKBi PA35948.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0553.
GeneTreei ENSGT00550000074659.
HOGENOMi HOG000172363.
HOVERGENi HBG056636.
InParanoidi P51531.
KOi K11647.
OMAi NYKDRCN.
PhylomeDBi P51531.
TreeFami TF300785.

Miscellaneous databases

ChiTaRSi SMARCA2. human.
EvolutionaryTracei P51531.
GeneWikii SMARCA2.
GenomeRNAii 6595.
NextBioi 25649.
PMAP-CutDB P51531.
PROi P51531.
SOURCEi Search...

Gene expression databases

Bgeei P51531.
CleanExi HS_SMARCA2.
ExpressionAtlasi P51531. baseline and differential.
Genevestigatori P51531.

Family and domain databases

Gene3Di 1.20.920.10. 1 hit.
3.40.50.300. 2 hits.
InterProi IPR006576. BRK_domain.
IPR001487. Bromodomain.
IPR018359. Bromodomain_CS.
IPR014978. Gln-Leu-Gln_QLQ.
IPR013999. HAS_subgr.
IPR014012. Helicase/SANT-assoc_DNA-bd.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR029295. SnAC.
IPR000330. SNF2_N.
[Graphical view ]
Pfami PF07533. BRK. 1 hit.
PF00439. Bromodomain. 1 hit.
PF00271. Helicase_C. 1 hit.
PF07529. HSA. 1 hit.
PF08880. QLQ. 1 hit.
PF14619. SnAC. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view ]
PRINTSi PR00503. BROMODOMAIN.
SMARTi SM00592. BRK. 1 hit.
SM00297. BROMO. 1 hit.
SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00573. HSA. 1 hit.
SM00951. QLQ. 1 hit.
[Graphical view ]
SUPFAMi SSF47370. SSF47370. 1 hit.
SSF52540. SSF52540. 2 hits.
PROSITEi PS00633. BROMODOMAIN_1. 1 hit.
PS50014. BROMODOMAIN_2. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS51204. HSA. 1 hit.
PS51666. QLQ. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A human homologue of Saccharomyces cerevisiae SNF2/SWI2 and Drosophila brm genes potentiates transcriptional activation by the glucocorticoid receptor."
    Muchardt C., Yaniv M.
    EMBO J. 12:4279-4290(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
    Tissue: Liver.
  2. "Two human homologues of Saccharomyces cerevisiae SWI2/SNF2 and Drosophila brahma are transcriptional coactivators cooperating with the estrogen receptor and the retinoic acid receptor."
    Chiba H., Muramatsu M., Nomoto A., Kato H.
    Nucleic Acids Res. 22:1815-1820(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
    Tissue: Brain.
  3. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome."
    Kitagawa H., Fujiki R., Yoshimura K., Mezaki Y., Uematsu Y., Matsui D., Ogawa S., Unno K., Okubo M., Tokita A., Nakagawa T., Ito T., Ishimi Y., Nagasawa H., Matsumoto T., Yanagisawa J., Kato S.
    Cell 113:905-917(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE WINAC COMPLEX, FUNCTION.
  6. "TopBP1 recruits Brg1/Brm to repress E2F1-induced apoptosis, a novel pRb-independent and E2F1-specific control for cell survival."
    Liu K., Luo Y., Lin F.-T., Lin W.-C.
    Genes Dev. 18:673-686(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TOPBP1.
  7. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-329; SER-1568 AND SER-1572, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Embryonic kidney.
  9. "Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex."
    Lange M., Kaynak B., Forster U.B., Toenjes M., Fischer J.J., Grimm C., Schlesinger J., Just S., Dunkel I., Krueger T., Mebus S., Lehrach H., Lurz R., Gobom J., Rottbauer W., Abdelilah-Seyfried S., Sperling S.
    Genes Dev. 22:2370-2384(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE BAF COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
  10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-175; SER-1512; SER-1516 AND SER-1528, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography."
    Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J.
    Proteomics 8:1346-1361(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1568 AND SER-1572, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  12. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1512 AND SER-1516, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  13. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-997 AND LYS-999, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. "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-175; SER-329; SER-1568 AND SER-1572, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  15. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  16. Cited for: INVOLVEMENT IN NCBRS.
  17. "Solution structure of the bromodomain of human SWI/SNF related matrix associated actin dependent regulator of chromatin subfamily A member 2."
    RIKEN structural genomics initiative (RSGI)
    Submitted (JAN-2007) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 1377-1486.
  18. "Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome."
    Van Houdt J.K., Nowakowska B.A., Sousa S.B., van Schaik B.D., Seuntjens E., Avonce N., Sifrim A., Abdul-Rahman O.A., van den Boogaard M.J., Bottani A., Castori M., Cormier-Daire V., Deardorff M.A., Filges I., Fryer A., Fryns J.P., Gana S., Garavelli L.
    , Gillessen-Kaesbach G., Hall B.D., Horn D., Huylebroeck D., Klapecki J., Krajewska-Walasek M., Kuechler A., Lines M.A., Maas S., Macdermot K.D., McKee S., Magee A., de Man S.A., Moreau Y., Morice-Picard F., Obersztyn E., Pilch J., Rosser E., Shannon N., Stolte-Dijkstra I., Van Dijck P., Vilain C., Vogels A., Wakeling E., Wieczorek D., Wilson L., Zuffardi O., van Kampen A.H., Devriendt K., Hennekam R., Vermeesch J.R.
    Nat. Genet. 44:445-449(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NCBRS ALA-752; ARG-755; ILE-756; HIS-851; ASP-852; LYS-852; ARG-854; ASN-854; GLY-855; ARG-881; VAL-881; LEU-883; TYR-939; SER-946; PHE-946; CYS-1105; PRO-1105; PRO-1135; ARG-1146; VAL-1158; GLY-1159; LEU-1159; GLN-1159; HIS-1162; PRO-1188; VAL-1201; CYS-1202; GLY-1205 AND TRP-1213.

Entry informationi

Entry nameiSMCA2_HUMAN
AccessioniPrimary (citable) accession number: P51531
Secondary accession number(s): B1ALG3
, B1ALG4, D3DRH4, D3DRH5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 4, 2008
Last modified: October 29, 2014
This is version 157 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3