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C2orf88 chromosome 2 open reading frame 88 [ Homo sapiens (human) ]

Gene ID: 84281, updated on 2-Nov-2024

Summary

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Official Symbol
C2orf88provided by HGNC
Official Full Name
chromosome 2 open reading frame 88provided by HGNC
Primary source
HGNC:HGNC:28191
See related
Ensembl:ENSG00000187699 MIM:615117; AllianceGenome:HGNC:28191
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
smAKAP
Summary
Predicted to enable protein kinase A regulatory subunit binding activity. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in colon (RPKM 10.9), small intestine (RPKM 9.1) and 21 other tissues See more
Orthologs
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Genomic context

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See C2orf88 in Genome Data Viewer
Location:
2q32.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (189879562..190203484)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (190627278..190693074)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (191002503..191068210)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene glucosamine-phosphate N-acetyltransferase 1 pseudogene Neighboring gene uncharacterized LOC105373796 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:190727824-190728081 Neighboring gene PMS1 homolog 1, mismatch repair system component Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16858 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 2 Neighboring gene TERF1 pseudogene 6 Neighboring gene ring finger protein 11 pseudogene 1 Neighboring gene myostatin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:191045543-191046342 Neighboring gene 3-hydroxyisobutyryl-CoA hydrolase Neighboring gene Sharpr-MPRA regulatory region 4599 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:191144703-191145674 Neighboring gene serine/arginine repetitive matrix protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16859 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12178 Neighboring gene inositol polyphosphate-1-phosphatase Neighboring gene ReSE screen-validated silencer GRCh37_chr2:191293549-191293748 Neighboring gene major facilitator superfamily domain containing 6 Neighboring gene nuclear envelope integral membrane protein 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.
EBI GWAS Catalog
Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC13057

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase A regulatory subunit binding IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
small membrane A-kinase anchor protein
Names
small A-kinase anchoring protein
small membrane AKAP

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_001042519.2 → NP_001035984.1  small membrane A-kinase anchor protein

    See identical proteins and their annotated locations for NP_001035984.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All four variants encode the same protein.
    Source sequence(s)
    AC010679, BX648070, DA247977
    Consensus CDS
    CCDS42792.1
    UniProtKB/Swiss-Prot
    D3DPI3, P0C876, Q53TC7, Q9BSF0
    Related
    ENSP00000345107.4, ENST00000340623.4
    Conserved Domains (1) summary
    pfam15127
    Location:1 → 94
    SmAKAP; Small membrane A-kinase anchor protein

  2. NM_001042520.2 → NP_001035985.1  small membrane A-kinase anchor protein

    See identical proteins and their annotated locations for NP_001035985.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
    Source sequence(s)
    AC010679, BX648070, DA389238
    Consensus CDS
    CCDS42792.1
    UniProtKB/Swiss-Prot
    D3DPI3, P0C876, Q53TC7, Q9BSF0
    Conserved Domains (1) summary
    pfam15127
    Location:1 → 94
    SmAKAP; Small membrane A-kinase anchor protein

  3. NM_001042521.2 → NP_001035986.1  small membrane A-kinase anchor protein

    See identical proteins and their annotated locations for NP_001035986.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
    Source sequence(s)
    AC010679, BU567236, BX648070
    Consensus CDS
    CCDS42792.1
    UniProtKB/Swiss-Prot
    D3DPI3, P0C876, Q53TC7, Q9BSF0
    Related
    ENSP00000380172.2, ENST00000396974.2
    Conserved Domains (1) summary
    pfam15127
    Location:1 → 94
    SmAKAP; Small membrane A-kinase anchor protein

  4. NM_032321.3 → NP_115697.2  small membrane A-kinase anchor protein

    See identical proteins and their annotated locations for NP_115697.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
    Source sequence(s)
    AC010679, BC005083, BX648070
    Consensus CDS
    CCDS42792.1
    UniProtKB/Swiss-Prot
    D3DPI3, P0C876, Q53TC7, Q9BSF0
    Related
    ENSP00000405225.2, ENST00000443551.2
    Conserved Domains (1) summary
    pfam15127
    Location:1 → 94
    SmAKAP; Small membrane A-kinase anchor protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    189879562..190203484
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047446008.1 → XP_047301964.1  small membrane A-kinase anchor protein isoform X1

    UniProtKB/Swiss-Prot
    D3DPI3, P0C876, Q53TC7, Q9BSF0

  2. XM_047446009.1 → XP_047301965.1  small membrane A-kinase anchor protein isoform X1

    UniProtKB/Swiss-Prot
    D3DPI3, P0C876, Q53TC7, Q9BSF0

  3. XM_011511983.2 → XP_011510285.1  small membrane A-kinase anchor protein isoform X1

    See identical proteins and their annotated locations for XP_011510285.1

    UniProtKB/Swiss-Prot
    D3DPI3, P0C876, Q53TC7, Q9BSF0
    Conserved Domains (1) summary
    pfam15127
    Location:1 → 94
    SmAKAP; Small membrane A-kinase anchor protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    190627278..190693074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BSF0.2 GenPept UniProtKB/Swiss-Prot:Q9BSF0

Gene LinkOut

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