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CCSER2 coiled-coil serine rich protein 2 [ Homo sapiens (human) ]

Gene ID: 54462, updated on 1-Jun-2020

Summary

Official Symbol
CCSER2provided by HGNC
Official Full Name
coiled-coil serine rich protein 2provided by HGNC
Primary source
HGNC:HGNC:29197
See related
Ensembl:ENSG00000107771
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Gcap14; FAM190B; KIAA1128; bA486O22.1
Expression
Ubiquitous expression in brain (RPKM 13.5), testis (RPKM 13.1) and 25 other tissues See more
Orthologs

Genomic context

See CCSER2 in Genome Data Viewer
Location:
10q23.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (84328552..84518521)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (86088342..86278276)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 858 Neighboring gene retinal G protein coupled receptor Neighboring gene ribosomal protein L12 pseudogene 29 Neighboring gene transportin 1 pseudogene 1 Neighboring gene calcyclin binding protein pseudogene 1 Neighboring gene RPS3A pseudogene 5 Neighboring gene uncharacterized LOC105378400

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14262, FLJ25809, KIAA1128

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
microtubule bundle formation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
microtubule cytoskeleton IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
serine-rich coiled-coil domain-containing protein 2
Names
family with sequence similarity 190, member B
protein FAM190B
protein GCAP14 homolog

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001284240.2NP_001271169.1  serine-rich coiled-coil domain-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001271169.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC074321, AF241785, AK298966, AL356115, BQ028021, BU599757, DC349473
    Consensus CDS
    CCDS60582.1
    UniProtKB/Swiss-Prot
    Q9H7U1
    Related
    ENSP00000361160.2, ENST00000372088.8
  2. NM_001284241.2NP_001271170.1  serine-rich coiled-coil domain-containing protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001271170.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC074321, BC030528, BU599757, DC349473
    Consensus CDS
    CCDS73159.1
    UniProtKB/Swiss-Prot
    Q9H7U1
    Related
    ENSP00000353068.4, ENST00000359979.8
  3. NM_001284242.2NP_001271171.1  serine-rich coiled-coil domain-containing protein 2 isoform 4

    See identical proteins and their annotated locations for NP_001271171.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AC074321, AF241785, AK294321, AL356115, BQ028021, BQ440427
    UniProtKB/Swiss-Prot
    Q9H7U1
  4. NM_001284243.1NP_001271172.1  serine-rich coiled-coil domain-containing protein 2 isoform 5

    See identical proteins and their annotated locations for NP_001271172.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AF241785, AK294321, AL356115, BQ028021
    Consensus CDS
    CCDS60583.1
    UniProtKB/Swiss-Prot
    Q9H7U1
    Related
    ENSP00000439944.1, ENST00000543283.2
  5. NM_001351290.2NP_001338219.1  serine-rich coiled-coil domain-containing protein 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC074321, AF241785, AL356115, BQ028021, BU599757, DA215550, DC349473, DR433316
  6. NM_001351292.2NP_001338221.1  serine-rich coiled-coil domain-containing protein 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC074321, AF241785, AL356115, BQ028021, BU599757, DA215550, DC349473, DR433316
  7. NM_018999.4NP_061872.2  serine-rich coiled-coil domain-containing protein 2 isoform 2

    See identical proteins and their annotated locations for NP_061872.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC074321, AF241785, AL356115, BQ028021, BU599757, DC349473, DR433316
    Consensus CDS
    CCDS31235.1
    UniProtKB/Swiss-Prot
    Q9H7U1
    Related
    ENSP00000224756.8, ENST00000224756.12

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    84328552..84518521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269905.4XP_005269962.1  serine-rich coiled-coil domain-containing protein 2 isoform X2

  2. XM_011539871.3XP_011538173.1  serine-rich coiled-coil domain-containing protein 2 isoform X3

    See identical proteins and their annotated locations for XP_011538173.1

  3. XM_024448045.1XP_024303813.1  serine-rich coiled-coil domain-containing protein 2 isoform X7

  4. XM_017016341.1XP_016871830.1  serine-rich coiled-coil domain-containing protein 2 isoform X4

  5. XM_011539872.2XP_011538174.1  serine-rich coiled-coil domain-containing protein 2 isoform X5

  6. XM_017016340.2XP_016871829.1  serine-rich coiled-coil domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9H7U1
  7. XM_017016343.2XP_016871832.1  serine-rich coiled-coil domain-containing protein 2 isoform X9

  8. XM_006717894.1XP_006717957.1  serine-rich coiled-coil domain-containing protein 2 isoform X6

    See identical proteins and their annotated locations for XP_006717957.1

  9. XM_006717895.1XP_006717958.1  serine-rich coiled-coil domain-containing protein 2 isoform X6

    See identical proteins and their annotated locations for XP_006717958.1

  10. XM_011539873.1XP_011538175.1  serine-rich coiled-coil domain-containing protein 2 isoform X6

    See identical proteins and their annotated locations for XP_011538175.1

  11. XM_005269908.4XP_005269965.1  serine-rich coiled-coil domain-containing protein 2 isoform X8

    See identical proteins and their annotated locations for XP_005269965.1

RNA

  1. XR_001747113.1 RNA Sequence

  2. XR_002956983.1 RNA Sequence

  3. XR_001747112.1 RNA Sequence

  4. XR_945776.3 RNA Sequence

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