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Protein

EF-hand calcium-binding domain-containing protein 2

Gene

EFCAB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
EF-hand calcium-binding domain-containing protein 2
Gene namesi
Name:EFCAB2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:28166. EFCAB2.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671914.

Polymorphism and mutation databases

DMDMi74756857.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 269269EF-hand calcium-binding domain-containing protein 2PRO_0000253544Add
BLAST

Proteomic databases

MaxQBiQ5VUJ9.
PaxDbiQ5VUJ9.
PRIDEiQ5VUJ9.

Expressioni

Gene expression databases

BgeeiQ5VUJ9.
CleanExiHS_EFCAB2.
ExpressionAtlasiQ5VUJ9. baseline and differential.
GenevisibleiQ5VUJ9. HS.

Organism-specific databases

HPAiHPA031206.
HPA031207.

Interactioni

Protein-protein interaction databases

BioGridi124015. 2 interactions.
STRINGi9606.ENSP00000355480.

Structurei

3D structure databases

ProteinModelPortaliQ5VUJ9.
SMRiQ5VUJ9. Positions 107-258.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini150 – 18536EF-hand 1PROSITE-ProRule annotationAdd
BLAST
Domaini228 – 26336EF-hand 2PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 2 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0027. Eukaryota.
COG5126. LUCA.
GeneTreeiENSGT00670000097718.
HOGENOMiHOG000112336.
InParanoidiQ5VUJ9.
OrthoDBiEOG7Q2N6D.
PhylomeDBiQ5VUJ9.
TreeFamiTF324069.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
[Graphical view]
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS50222. EF_HAND_2. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5VUJ9-1) [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
MLGPGQVRLR PRVWRDKAGG RVADGASGLP PARGSWRETG TGRALGASSP
60 70 80 90 100
PRPAQGSSSP GIQSGPSSRP GSPRGAEQAG TPRPRLSLGI SQATGSAARW
110 120 130 140 150
RTRRTGKGLG YNSDEIRPRT LLIEHLMEGG RRDHHTMTVL WGTQEIIVAE
160 170 180 190 200
FHKKIKEAFE VFDHESNNTV DVREIGTIIR SLGCCPTEGE LHDLIAEVEE
210 220 230 240 250
EEPTGYIRFE KFLPVMTEIL LERKYRPIPE DVLLRAFEVL DSAKRGFLTK
260
DELIKYMTEE DGVSLRRPG
Length:269
Mass (Da):29,714
Last modified:December 7, 2004 - v1
Checksum:iFB123E7B09D12704
GO
Isoform 2 (identifier: Q5VUJ9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-136: Missing.
     137-144: MTVLWGTQ → MADEKDRE
     261-269: DGVSLRRPG → GEPFSQEEMEEMLSAAIDPESNSINYKDYITMMVIDEN

Note: No experimental confirmation available.
Show »
Length:162
Mass (Da):18,873
Checksum:i13E1A99F626DBFCA
GO
Isoform 3 (identifier: Q5VUJ9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: MLGPGQVR → MADEKDRE
     9-144: Missing.

Note: No experimental confirmation available.
Show »
Length:133
Mass (Da):15,458
Checksum:i765066883DEDDDB2
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti39 – 391T → A in AK090927 (PubMed:14702039).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 136136Missing in isoform 2. 1 PublicationVSP_021055Add
BLAST
Alternative sequencei1 – 88MLGPGQVR → MADEKDRE in isoform 3. 1 PublicationVSP_043273
Alternative sequencei9 – 144136Missing in isoform 3. 1 PublicationVSP_043274Add
BLAST
Alternative sequencei137 – 1448MTVLWGTQ → MADEKDRE in isoform 2. 1 PublicationVSP_021056
Alternative sequencei261 – 2699DGVSLRRPG → GEPFSQEEMEEMLSAAIDPE SNSINYKDYITMMVIDEN in isoform 2. 1 PublicationVSP_021057

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK090927 mRNA. No translation available.
AK302883 mRNA. Translation: BAG64061.1.
AL356512, AL589763 Genomic DNA. Translation: CAH70642.1.
AL356512, AL589763 Genomic DNA. Translation: CAH70644.1.
AL589763, AL356512 Genomic DNA. Translation: CAH72043.1.
AL589763, AL356512 Genomic DNA. Translation: CAH72045.1.
BC005357 mRNA. Translation: AAH05357.1.
AB209286 mRNA. Translation: BAD92523.1.
CCDSiCCDS31082.1. [Q5VUJ9-2]
CCDS44341.1. [Q5VUJ9-3]
RefSeqiNP_001137415.1. NM_001143943.1. [Q5VUJ9-3]
NP_115704.1. NM_032328.3. [Q5VUJ9-2]
UniGeneiHs.134857.

Genome annotation databases

EnsembliENST00000366522; ENSP00000355479; ENSG00000203666. [Q5VUJ9-1]
ENST00000366523; ENSP00000355480; ENSG00000203666. [Q5VUJ9-2]
ENST00000447569; ENSP00000408661; ENSG00000203666. [Q5VUJ9-3]
GeneIDi84288.
KEGGihsa:84288.
UCSCiuc001ibc.3. human. [Q5VUJ9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK090927 mRNA. No translation available.
AK302883 mRNA. Translation: BAG64061.1.
AL356512, AL589763 Genomic DNA. Translation: CAH70642.1.
AL356512, AL589763 Genomic DNA. Translation: CAH70644.1.
AL589763, AL356512 Genomic DNA. Translation: CAH72043.1.
AL589763, AL356512 Genomic DNA. Translation: CAH72045.1.
BC005357 mRNA. Translation: AAH05357.1.
AB209286 mRNA. Translation: BAD92523.1.
CCDSiCCDS31082.1. [Q5VUJ9-2]
CCDS44341.1. [Q5VUJ9-3]
RefSeqiNP_001137415.1. NM_001143943.1. [Q5VUJ9-3]
NP_115704.1. NM_032328.3. [Q5VUJ9-2]
UniGeneiHs.134857.

3D structure databases

ProteinModelPortaliQ5VUJ9.
SMRiQ5VUJ9. Positions 107-258.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124015. 2 interactions.
STRINGi9606.ENSP00000355480.

Polymorphism and mutation databases

DMDMi74756857.

Proteomic databases

MaxQBiQ5VUJ9.
PaxDbiQ5VUJ9.
PRIDEiQ5VUJ9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366522; ENSP00000355479; ENSG00000203666. [Q5VUJ9-1]
ENST00000366523; ENSP00000355480; ENSG00000203666. [Q5VUJ9-2]
ENST00000447569; ENSP00000408661; ENSG00000203666. [Q5VUJ9-3]
GeneIDi84288.
KEGGihsa:84288.
UCSCiuc001ibc.3. human. [Q5VUJ9-1]

Organism-specific databases

CTDi84288.
GeneCardsiEFCAB2.
HGNCiHGNC:28166. EFCAB2.
HPAiHPA031206.
HPA031207.
neXtProtiNX_Q5VUJ9.
PharmGKBiPA142671914.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0027. Eukaryota.
COG5126. LUCA.
GeneTreeiENSGT00670000097718.
HOGENOMiHOG000112336.
InParanoidiQ5VUJ9.
OrthoDBiEOG7Q2N6D.
PhylomeDBiQ5VUJ9.
TreeFamiTF324069.

Miscellaneous databases

ChiTaRSiEFCAB2. human.
GenomeRNAii84288.
NextBioi73917.
PROiQ5VUJ9.

Gene expression databases

BgeeiQ5VUJ9.
CleanExiHS_EFCAB2.
ExpressionAtlasiQ5VUJ9. baseline and differential.
GenevisibleiQ5VUJ9. HS.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
[Graphical view]
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS50222. EF_HAND_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "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] (ISOFORMS 1 AND 3).
    Tissue: Amygdala and Testis.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORM 2).
    Tissue: Urinary bladder.
  4. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
    Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 105-269 (ISOFORM 1).
    Tissue: Brain.

Entry informationi

Entry nameiEFCB2_HUMAN
AccessioniPrimary (citable) accession number: Q5VUJ9
Secondary accession number(s): B4DZE9, Q59G23, Q9BS36
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: December 7, 2004
Last modified: March 16, 2016
This is version 97 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. 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.