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CCM2L CCM2 like scaffold protein [ Homo sapiens (human) ]

Gene ID: 140706, updated on 26-Oct-2022

Summary

Official Symbol
CCM2Lprovided by HGNC
Official Full Name
CCM2 like scaffold proteinprovided by HGNC
Primary source
HGNC:HGNC:16153
See related
Ensembl:ENSG00000101331 AllianceGenome:HGNC:16153
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
C20orf160; dJ310O13.5
Summary
Predicted to act upstream of or within several processes, including heart development; negative regulation of homotypic cell-cell adhesion; and positive regulation of fibroblast growth factor production. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in spleen (RPKM 38.8), fat (RPKM 5.9) and 2 other tissues See more
Orthologs
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Genomic context

See CCM2L in Genome Data Viewer
Location:
20q11.21
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (32010438..32032180)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33735070..33756812)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30598241..30619983)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene XK related 7 Neighboring gene RNA, 5S ribosomal pseudogene 481 Neighboring gene RNA, 5S ribosomal pseudogene 482 Neighboring gene HCK proto-oncogene, Src family tyrosine kinase

Genomic regions, transcripts, and products

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ43600

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in heart morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 

General protein information

Preferred Names
cerebral cavernous malformations 2 protein-like
Names
CCM2 like scaffolding protein
CCM2-like
cerebral cavernous malformation 2-like

NCBI Reference Sequences (RefSeq)

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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_001365692.1NP_001352621.1  cerebral cavernous malformations 2 protein-like isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL031658
    Consensus CDS
    CCDS93028.1
    UniProtKB/Swiss-Prot
    Q96MD5
    Related
    ENSP00000392448.2, ENST00000452892.3
    Conserved Domains (2) summary
    cd13166
    Location:41345
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:403493
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
  2. NM_080625.4NP_542192.2  cerebral cavernous malformations 2 protein-like isoform 2

    See identical proteins and their annotated locations for NP_542192.2

    Status: VALIDATED

    Source sequence(s)
    AL031658, BC030254, CA406781, DA936380, DB331650
    Consensus CDS
    CCDS13195.1
    UniProtKB/Swiss-Prot
    Q9NUG4
    Related
    ENSP00000262659.8, ENST00000262659.12
    Conserved Domains (1) summary
    cd13166
    Location:41345
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    32010438..32032180
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528568.4XP_011526870.1  cerebral cavernous malformations 2 protein-like isoform X3

    Conserved Domains (2) summary
    cd13166
    Location:33337
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:395511
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
  2. XM_011528566.3XP_011526868.1  cerebral cavernous malformations 2 protein-like isoform X1

    Conserved Domains (2) summary
    cd13166
    Location:41345
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:403519
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology
  3. XM_011528567.4XP_011526869.1  cerebral cavernous malformations 2 protein-like isoform X2

    Conserved Domains (2) summary
    cd13166
    Location:34338
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
    pfam16545
    Location:396512
    CCM2_C; Cerebral cavernous malformation protein, harmonin-homology

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    33735070..33756812
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)