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Protein

Disco-interacting protein 2 homolog A

Gene

DIP2A

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

Functioni

May provide positional cues for axon pathfinding and patterning in the central nervous system.

GO - Molecular functioni

GO - Biological processi

  • metabolic process Source: InterPro
  • multicellular organism development Source: UniProtKB-KW
  • negative regulation of gene expression Source: UniProtKB
  • regulation of apoptotic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Enzyme and pathway databases

BioCyciZFISH:ENSG00000160305-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Disco-interacting protein 2 homolog A
Short name:
DIP2 homolog A
Gene namesi
Name:DIP2A
Synonyms:C21orf106, DIP2, KIAA0184
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:17217. DIP2A.

Subcellular locationi

GO - Cellular componenti

  • cell surface Source: UniProtKB
  • nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi23181.
OpenTargetsiENSG00000160305.
PharmGKBiPA134888233.

Polymorphism and mutation databases

BioMutaiDIP2A.
DMDMi32700084.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000799061 – 1571Disco-interacting protein 2 homolog AAdd BLAST1571

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei94PhosphoserineCombined sources1
Modified residuei132PhosphothreonineBy similarity1
Modified residuei155PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ14689.
PaxDbiQ14689.
PeptideAtlasiQ14689.
PRIDEiQ14689.

PTM databases

iPTMnetiQ14689.
PhosphoSitePlusiQ14689.

Expressioni

Tissue specificityi

Low expression in all tissues tested.

Gene expression databases

BgeeiENSG00000160305.
CleanExiHS_DIP2A.
GenevisibleiQ14689. HS.

Organism-specific databases

HPAiHPA052516.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ADAMTSL4Q6UY14-33EBI-10233719,EBI-10173507
AESQ081173EBI-10233719,EBI-717810
CEP44Q9C0F13EBI-2564275,EBI-744115
FAM214BQ7L5A33EBI-2564275,EBI-745689
FSTP198832EBI-2564275,EBI-1571188
FSTL1Q128414EBI-2564275,EBI-2349801
Fstl1Q623563EBI-2564275,EBI-2564326From a different organism.
GPATCH2LQ9NWQ43EBI-2564275,EBI-5666657
MBIPQ9NS73-53EBI-10233719,EBI-10182361
PSME3P612893EBI-10233719,EBI-355546
PTPN3P260453EBI-10233719,EBI-1047946
SORBS3O605043EBI-10233719,EBI-741237
STAC3Q96MF23EBI-10233719,EBI-745680
TGFB1P011372EBI-2564275,EBI-779636
TMCC2Q7Z6C63EBI-10233719,EBI-10177480
TRIM39Q9HCM93EBI-10233719,EBI-739510
TRIP13Q156453EBI-10233719,EBI-358993
ZBTB43O432983EBI-10233719,EBI-740718

Protein-protein interaction databases

BioGridi116793. 34 interactors.
IntActiQ14689. 23 interactors.
MINTiMINT-3030046.
STRINGi9606.ENSP00000392066.

Structurei

3D structure databases

ProteinModelPortaliQ14689.
SMRiQ14689.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini10 – 122DMAP-interactionAdd BLAST113

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1114 – 1117Poly-Ala4
Compositional biasi1498 – 1501Poly-Val4

Sequence similaritiesi

Belongs to the DIP2 family.Curated
Contains 1 DMAP-interaction domain.Curated

Phylogenomic databases

eggNOGiKOG3628. Eukaryota.
COG0318. LUCA.
GeneTreeiENSGT00390000005268.
HOGENOMiHOG000045270.
HOVERGENiHBG026594.
InParanoidiQ14689.
OMAiDWHPPIR.
OrthoDBiEOG091G00DA.
PhylomeDBiQ14689.
TreeFamiTF312871.

Family and domain databases

InterProiIPR000873. AMP-dep_Synth/Lig.
IPR010506. DMAP1-bd.
[Graphical view]
PfamiPF00501. AMP-binding. 2 hits.
PF06464. DMAP_binding. 1 hit.
[Graphical view]
SMARTiSM01137. DMAP_binding. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q14689-1) [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
MADRGCPLEA APLPAEVRES LAELELELSE GDITQKGYEK KRAKLLARYI
60 70 80 90 100
PLIQGIDPSL QAENRIPGPS QTTAAAPKQQ KSRPTASRDE RFRSDVHTEA
110 120 130 140 150
VQAALAKYKE RKMPMPSKRR SVLVHSSVET YTPPDTSSAS EDEGSLRRPG
160 170 180 190 200
RLTSTPLQSH SSVEPWLDRV IQGSSTSSSA SSTSSHPGGR PTTAPSAAAT
210 220 230 240 250
PGAAATTALA GLEAHTHIDL HSAPPDVTTG LVEHSYFERP QVASVRSVPR
260 270 280 290 300
GCSGSMLETA DGVPVNSRVS SKIQQLLNTL KRPKRPPLKE FFVDDFEELL
310 320 330 340 350
EVQQPDPNQP KPEGSETSVL RGEPLTAGVP RPPSLLATLQ RWGTTQPKSP
360 370 380 390 400
CLTALDTTGK AVYTLTYGKL WSRSLKLAYT LLNKLTSKNE PLLKPGDRVA
410 420 430 440 450
LVFPNSDPVM FMVAFYGCLL AELVPVPIEV PLTRKDAGSQ QVGFLLGSCG
460 470 480 490 500
VFLALTTDAC QKGLPKAQTG EVAAFKGWPP LSWLVIDGKH LAKPPKDWHP
510 520 530 540 550
LAQDTGTGTA YIEYKTSKEG STVGVTVSHA SLLAQCRALT QACGYSEAET
560 570 580 590 600
LTNVLDFKRD AGLWHGVLTS VMNRMHVVSV PYALMKANPL SWIQKVCFYK
610 620 630 640 650
ARAALVKSRD MHWSLLAQRG QRDVSLSSLR MLIVADGANP WSISSCDAFL
660 670 680 690 700
NVFQSRGLRP EVICPCASSP EALTVAIRRP PDLGGPPPRK AVLSMNGLSY
710 720 730 740 750
GVIRVDTEEK LSVLTVQDVG QVMPGANVCV VKLEGTPYLC KTDEVGEICV
760 770 780 790 800
SSSATGTAYY GLLGITKNVF EAVPVTTGGA PIFDRPFTRT GLLGFIGPDN
810 820 830 840 850
LVFIVGKLDG LMVTGVRRHN ADDVVATALA VEPMKFVYRG RIAVFSVTVL
860 870 880 890 900
HDDRIVLVAE QRPDASEEDS FQWMSRVLQA IDSIHQVGVY CLALVPANTL
910 920 930 940 950
PKAPLGGIHI SETKQRFLEG TLHPCNVLMC PHTCVTNLPK PRQKQPEVGP
960 970 980 990 1000
ASMIVGNLVA GKRIAQASGR ELAHLEDSDQ ARKFLFLADV LQWRAHTTPD
1010 1020 1030 1040 1050
HPLFLLLNAK GTVTSTATCV QLHKRAERVA AALMEKGRLS VGDHVALVYP
1060 1070 1080 1090 1100
PGVDLIAAFY GCLYCGCVPV TVRPPHPQNL GTTLPTVKMI VEVSKSACVL
1110 1120 1130 1140 1150
TTQAVTRLLR SKEAAAAVDI RTWPTILDTD DIPKKKIASV FRPPSPDVLA
1160 1170 1180 1190 1200
YLDFSVSTTG ILAGVKMSHA ATSALCRSIK LQCELYPSRQ IAICLDPYCG
1210 1220 1230 1240 1250
LGFALWCLCS VYSGHQSVLV PPLELESNVS LWLSAVSQYK ARVTFCSYSV
1260 1270 1280 1290 1300
MEMCTKGLGA QTGVLRMKGV NLSCVRTCMV VAEERPRIAL TQSFSKLFKD
1310 1320 1330 1340 1350
LGLPARAVST TFGCRVNVAI CLQGTAGPDP TTVYVDMRAL RHDRVRLVER
1360 1370 1380 1390 1400
GSPHSLPLME SGKILPGVKV IIAHTETKGP LGDSHLGEIW VSSPHNATGY
1410 1420 1430 1440 1450
YTVYGEEALH ADHFSARLSF GDTQTIWART GYLGFLRRTE LTDASGGRHD
1460 1470 1480 1490 1500
ALYVVGSLDE TLELRGMRYH PIDIETSVIR AHRSIAECAV FTWTNLLVVV
1510 1520 1530 1540 1550
VELDGLEQDA LDLVALVTNV VLEEHYLVVG VVVIVDPGVI PINSRGEKQR
1560 1570
MHLRDGFLAD QLDPIYVAYN M
Length:1,571
Mass (Da):170,369
Last modified:July 11, 2003 - v2
Checksum:i40652BEFA5E9DD7C
GO
Isoform 2 (identifier: Q14689-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     842-1571: Missing.

Show »
Length:841
Mass (Da):90,596
Checksum:iEB6EC2CF223767F1
GO
Isoform 3 (identifier: Q14689-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     219-261: Missing.
     842-1571: Missing.

Note: No experimental confirmation available.
Show »
Length:798
Mass (Da):86,014
Checksum:i41F5A6A95144B2AF
GO
Isoform 4 (identifier: Q14689-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     880-889: AIDSIHQVGV → VGAPARPMVR
     890-1571: Missing.

Note: No experimental confirmation available.
Show »
Length:889
Mass (Da):96,001
Checksum:i8DE5A4930D97E0B1
GO
Isoform 5 (identifier: Q14689-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     31-94: Missing.
     1167-1174: MSHAATSA → AGRGGSRL
     1175-1571: Missing.

Note: No experimental confirmation available.
Show »
Length:1,110
Mass (Da):119,468
Checksum:i529BBF9371B642F1
GO
Isoform 6 (identifier: Q14689-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     302-305: Missing.

Show »
Length:1,567
Mass (Da):169,917
Checksum:i65A460B19A7EF6B3
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti702V → F in BAG64412 (PubMed:14702039).Curated1
Sequence conflicti1541P → L in BAF69070 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047372191P → A.Corresponds to variant rs7283507dbSNPEnsembl.1
Natural variantiVAR_047373372S → N.Corresponds to variant rs16979312dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04540831 – 94Missing in isoform 5. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_007748219 – 261Missing in isoform 3. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_047246302 – 305Missing in isoform 6. 1 Publication4
Alternative sequenceiVSP_007749842 – 1571Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST730
Alternative sequenceiVSP_007750880 – 889AIDSIHQVGV → VGAPARPMVR in isoform 4. 1 Publication10
Alternative sequenceiVSP_007751890 – 1571Missing in isoform 4. 1 PublicationAdd BLAST682
Alternative sequenceiVSP_0454091167 – 1174MSHAATSA → AGRGGSRL in isoform 5. 1 Publication8
Alternative sequenceiVSP_0454101175 – 1571Missing in isoform 5. 1 PublicationAdd BLAST397

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF490768 mRNA. Translation: AAM18046.1.
AB273729 mRNA. Translation: BAF69070.1.
AK056738 mRNA. Translation: BAB71268.1.
AK303351 mRNA. Translation: BAG64412.1.
AP000337 Genomic DNA. No translation available.
AP000338 Genomic DNA. No translation available.
BC033718 mRNA. Translation: AAH33718.1.
BC038443 mRNA. Translation: AAH38443.1.
D80006 mRNA. Translation: BAA11501.1.
CCDSiCCDS46655.1. [Q14689-1]
CCDS46656.1. [Q14689-4]
CCDS46657.1. [Q14689-2]
CCDS54490.1. [Q14689-6]
CCDS54491.1. [Q14689-3]
RefSeqiNP_001139587.1. NM_001146115.1. [Q14689-3]
NP_001139588.1. NM_001146116.1. [Q14689-6]
NP_055966.2. NM_015151.3. [Q14689-1]
NP_996772.1. NM_206889.2. [Q14689-4]
NP_996773.1. NM_206890.2. [Q14689-2]
NP_996774.1. NM_206891.2.
XP_016883784.1. XM_017028295.1. [Q14689-1]
XP_016883785.1. XM_017028296.1. [Q14689-1]
UniGeneiHs.189585.

Genome annotation databases

EnsembliENST00000400274; ENSP00000383133; ENSG00000160305. [Q14689-6]
ENST00000417564; ENSP00000392066; ENSG00000160305. [Q14689-1]
ENST00000435722; ENSP00000415089; ENSG00000160305. [Q14689-2]
ENST00000457905; ENSP00000393434; ENSG00000160305. [Q14689-4]
ENST00000466639; ENSP00000430249; ENSG00000160305. [Q14689-3]
GeneIDi23181.
KEGGihsa:23181.
UCSCiuc002zjm.4. human. [Q14689-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF490768 mRNA. Translation: AAM18046.1.
AB273729 mRNA. Translation: BAF69070.1.
AK056738 mRNA. Translation: BAB71268.1.
AK303351 mRNA. Translation: BAG64412.1.
AP000337 Genomic DNA. No translation available.
AP000338 Genomic DNA. No translation available.
BC033718 mRNA. Translation: AAH33718.1.
BC038443 mRNA. Translation: AAH38443.1.
D80006 mRNA. Translation: BAA11501.1.
CCDSiCCDS46655.1. [Q14689-1]
CCDS46656.1. [Q14689-4]
CCDS46657.1. [Q14689-2]
CCDS54490.1. [Q14689-6]
CCDS54491.1. [Q14689-3]
RefSeqiNP_001139587.1. NM_001146115.1. [Q14689-3]
NP_001139588.1. NM_001146116.1. [Q14689-6]
NP_055966.2. NM_015151.3. [Q14689-1]
NP_996772.1. NM_206889.2. [Q14689-4]
NP_996773.1. NM_206890.2. [Q14689-2]
NP_996774.1. NM_206891.2.
XP_016883784.1. XM_017028295.1. [Q14689-1]
XP_016883785.1. XM_017028296.1. [Q14689-1]
UniGeneiHs.189585.

3D structure databases

ProteinModelPortaliQ14689.
SMRiQ14689.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116793. 34 interactors.
IntActiQ14689. 23 interactors.
MINTiMINT-3030046.
STRINGi9606.ENSP00000392066.

PTM databases

iPTMnetiQ14689.
PhosphoSitePlusiQ14689.

Polymorphism and mutation databases

BioMutaiDIP2A.
DMDMi32700084.

Proteomic databases

MaxQBiQ14689.
PaxDbiQ14689.
PeptideAtlasiQ14689.
PRIDEiQ14689.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000400274; ENSP00000383133; ENSG00000160305. [Q14689-6]
ENST00000417564; ENSP00000392066; ENSG00000160305. [Q14689-1]
ENST00000435722; ENSP00000415089; ENSG00000160305. [Q14689-2]
ENST00000457905; ENSP00000393434; ENSG00000160305. [Q14689-4]
ENST00000466639; ENSP00000430249; ENSG00000160305. [Q14689-3]
GeneIDi23181.
KEGGihsa:23181.
UCSCiuc002zjm.4. human. [Q14689-1]

Organism-specific databases

CTDi23181.
DisGeNETi23181.
GeneCardsiDIP2A.
HGNCiHGNC:17217. DIP2A.
HPAiHPA052516.
MIMi607711. gene.
neXtProtiNX_Q14689.
OpenTargetsiENSG00000160305.
PharmGKBiPA134888233.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3628. Eukaryota.
COG0318. LUCA.
GeneTreeiENSGT00390000005268.
HOGENOMiHOG000045270.
HOVERGENiHBG026594.
InParanoidiQ14689.
OMAiDWHPPIR.
OrthoDBiEOG091G00DA.
PhylomeDBiQ14689.
TreeFamiTF312871.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000160305-MONOMER.

Miscellaneous databases

ChiTaRSiDIP2A. human.
GeneWikiiDIP2A.
GenomeRNAii23181.
PROiQ14689.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000160305.
CleanExiHS_DIP2A.
GenevisibleiQ14689. HS.

Family and domain databases

InterProiIPR000873. AMP-dep_Synth/Lig.
IPR010506. DMAP1-bd.
[Graphical view]
PfamiPF00501. AMP-binding. 2 hits.
PF06464. DMAP_binding. 1 hit.
[Graphical view]
SMARTiSM01137. DMAP_binding. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDIP2A_HUMAN
AccessioniPrimary (citable) accession number: Q14689
Secondary accession number(s): A6P4T3
, B4E0F0, E7EMA5, Q8IVA3, Q8N4S2, Q8TD89, Q96ML9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: July 11, 2003
Last modified: November 30, 2016
This is version 136 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: 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.