Skip Header

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

Coiled-coil domain-containing protein 102B

Gene

CCDC102B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 102B
Gene namesi
Name:CCDC102B
Synonyms:C18orf14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:26295. CCDC102B.

Pathology & Biotechi

Organism-specific databases

DisGeNETi79839.
OpenTargetsiENSG00000150636.
PharmGKBiPA134948675.

Polymorphism and mutation databases

BioMutaiCCDC102B.
DMDMi215274243.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000793081 – 513Coiled-coil domain-containing protein 102BAdd BLAST513

Proteomic databases

PaxDbiQ68D86.
PeptideAtlasiQ68D86.
PRIDEiQ68D86.

PTM databases

iPTMnetiQ68D86.
PhosphoSitePlusiQ68D86.

Expressioni

Gene expression databases

BgeeiENSG00000150636.
CleanExiHS_CCDC102B.
ExpressionAtlasiQ68D86. baseline and differential.
GenevisibleiQ68D86. HS.

Organism-specific databases

HPAiHPA040623.
HPA048194.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC120Q96HB54EBI-11142258,EBI-744556

Protein-protein interaction databases

BioGridi122930. 98 interactors.
IntActiQ68D86. 33 interactors.
STRINGi9606.ENSP00000316237.

Structurei

3D structure databases

ProteinModelPortaliQ68D86.
SMRiQ68D86.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili72 – 142Sequence analysisAdd BLAST71
Coiled coili268 – 337Sequence analysisAdd BLAST70
Coiled coili363 – 513Sequence analysisAdd BLAST151

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410II1J. Eukaryota.
ENOG410XRGB. LUCA.
GeneTreeiENSGT00730000110960.
HOGENOMiHOG000008304.
HOVERGENiHBG080941.
InParanoidiQ68D86.
OMAiQSHAAHN.
OrthoDBiEOG091G0CDO.
PhylomeDBiQ68D86.
TreeFamiTF320856.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q68D86-1) [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
MNLDSIHRLI EETQIFQMQQ SSIKSRGDMV APASPPRDTC NTCFPLHGLQ
60 70 80 90 100
SHAAHNFCAH SYNTNKWDIC EELRLRELEE VKARAAQMEK TMRWWSDCTA
110 120 130 140 150
NWREKWSKVR AERNSAREEG RQLRIKLEMA MKELSTLKKK QSLPPQKEAL
160 170 180 190 200
EAKVTQDLKL PGFVEESCEH TDQFQLSSQM HESIREYLVK RQFSTKEDTN
210 220 230 240 250
NKEQGVVIDS LKLSEEMKPN LDGVDLFNNG GSGNGETKTG LRLKAINLPL
260 270 280 290 300
ENEVTEISAL QVHLDEFQKI LWKEREMRTA LEKEIERLES ALSLWKWKYE
310 320 330 340 350
ELKESKPKNV KEFDILLGQH NDEMQELSGN IKEESKSQNS KDRVICELRA
360 370 380 390 400
ELERLQAENT SEWDKREILE REKQGLEREN RRLKIQVKEM EELLDKKNRL
410 420 430 440 450
SANSQSPDFK MSQIDLQEKN QELLNLQHAY YKLNRQYQAN IAELTHANNR
460 470 480 490 500
VDQNEAEVKK LRLRVEELKQ GLNQKEDELD DSLNQIRKLQ RSLDEEKERN
510
ENLETELRHL QNW
Note: No experimental confirmation available.
Length:513
Mass (Da):60,448
Last modified:November 25, 2008 - v4
Checksum:i450D36A80D6D88C8
GO
Isoform 2 (identifier: Q68D86-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     479-483: LDDSL → VLLYE
     484-513: Missing.

Note: No experimental confirmation available.
Show »
Length:483
Mass (Da):56,720
Checksum:i58CB338DE6B55098
GO

Sequence cautioni

The sequence AAH56269 differs from that shown. wrong intron-exon boundaries.Curated
The sequence BAB15706 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAD38721 differs from that shown. Reason: Frameshift at position 200.Curated
The sequence CAD38721 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti131M → T in CAH18334 (PubMed:17974005).Curated1
Sequence conflicti382R → G in CAH18334 (PubMed:17974005).Curated1
Sequence conflicti469K → R in CAH18334 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047331153K → N.1 PublicationCorresponds to variant rs572020dbSNPEnsembl.1
Natural variantiVAR_047332298K → R.1 PublicationCorresponds to variant rs2187094dbSNPEnsembl.1
Natural variantiVAR_022893346C → F.Corresponds to variant rs745894dbSNPEnsembl.1
Natural variantiVAR_047333370E → G.Corresponds to variant rs34102373dbSNPEnsembl.1
Natural variantiVAR_047334425N → K.Corresponds to variant rs17080065dbSNPEnsembl.1
Natural variantiVAR_022894429A → P.Corresponds to variant rs9963788dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_014688479 – 483LDDSL → VLLYE in isoform 2. 1 Publication5
Alternative sequenceiVSP_014689484 – 513Missing in isoform 2. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR749520 mRNA. Translation: CAH18334.2.
AL833863 mRNA. Translation: CAD38721.2. Sequence problems.
AC022035 Genomic DNA. No translation available.
AC096708 Genomic DNA. No translation available.
AC011087 Genomic DNA. No translation available.
BC056269 mRNA. Translation: AAH56269.1. Sequence problems.
AK027247 mRNA. Translation: BAB15706.1. Different initiation.
CCDSiCCDS11996.2. [Q68D86-1]
RefSeqiNP_079057.2. NM_024781.2.
XP_016881464.1. XM_017025975.1. [Q68D86-1]
UniGeneiHs.280781.
Hs.540997.

Genome annotation databases

EnsembliENST00000360242; ENSP00000353377; ENSG00000150636. [Q68D86-1]
ENST00000584156; ENSP00000463111; ENSG00000150636. [Q68D86-2]
GeneIDi79839.
KEGGihsa:79839.
UCSCiuc002lki.2. human. [Q68D86-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR749520 mRNA. Translation: CAH18334.2.
AL833863 mRNA. Translation: CAD38721.2. Sequence problems.
AC022035 Genomic DNA. No translation available.
AC096708 Genomic DNA. No translation available.
AC011087 Genomic DNA. No translation available.
BC056269 mRNA. Translation: AAH56269.1. Sequence problems.
AK027247 mRNA. Translation: BAB15706.1. Different initiation.
CCDSiCCDS11996.2. [Q68D86-1]
RefSeqiNP_079057.2. NM_024781.2.
XP_016881464.1. XM_017025975.1. [Q68D86-1]
UniGeneiHs.280781.
Hs.540997.

3D structure databases

ProteinModelPortaliQ68D86.
SMRiQ68D86.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122930. 98 interactors.
IntActiQ68D86. 33 interactors.
STRINGi9606.ENSP00000316237.

PTM databases

iPTMnetiQ68D86.
PhosphoSitePlusiQ68D86.

Polymorphism and mutation databases

BioMutaiCCDC102B.
DMDMi215274243.

Proteomic databases

PaxDbiQ68D86.
PeptideAtlasiQ68D86.
PRIDEiQ68D86.

Protocols and materials databases

DNASUi79839.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360242; ENSP00000353377; ENSG00000150636. [Q68D86-1]
ENST00000584156; ENSP00000463111; ENSG00000150636. [Q68D86-2]
GeneIDi79839.
KEGGihsa:79839.
UCSCiuc002lki.2. human. [Q68D86-1]

Organism-specific databases

CTDi79839.
DisGeNETi79839.
GeneCardsiCCDC102B.
HGNCiHGNC:26295. CCDC102B.
HPAiHPA040623.
HPA048194.
neXtProtiNX_Q68D86.
OpenTargetsiENSG00000150636.
PharmGKBiPA134948675.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II1J. Eukaryota.
ENOG410XRGB. LUCA.
GeneTreeiENSGT00730000110960.
HOGENOMiHOG000008304.
HOVERGENiHBG080941.
InParanoidiQ68D86.
OMAiQSHAAHN.
OrthoDBiEOG091G0CDO.
PhylomeDBiQ68D86.
TreeFamiTF320856.

Miscellaneous databases

GenomeRNAii79839.
PROiQ68D86.

Gene expression databases

BgeeiENSG00000150636.
CleanExiHS_CCDC102B.
ExpressionAtlasiQ68D86. baseline and differential.
GenevisibleiQ68D86. HS.

Family and domain databases

ProtoNetiSearch...

Entry informationi

Entry nameiC102B_HUMAN
AccessioniPrimary (citable) accession number: Q68D86
Secondary accession number(s): Q7Z467, Q8NDK7, Q9H5C1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: November 25, 2008
Last modified: November 30, 2016
This is version 101 of the entry and version 4 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 18
    Human chromosome 18: 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

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.