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    RASSF8 Ras association domain family member 8 [ Homo sapiens (human) ]

    Gene ID: 11228, updated on 3-Apr-2024

    Summary

    Official Symbol
    RASSF8provided by HGNC
    Official Full Name
    Ras association domain family member 8provided by HGNC
    Primary source
    HGNC:HGNC:13232
    See related
    Ensembl:ENSG00000123094 MIM:608231; AllianceGenome:HGNC:13232
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HOJ1; C12orf2
    Summary
    This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
    Expression
    Broad expression in testis (RPKM 13.9), endometrium (RPKM 13.0) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    12p12.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (25958232..26079889)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (25830796..25952417)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (26111165..26232822)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene thymine-DNA glycosylase pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:26038654-26039197 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:26040173-26040831 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26717 Neighboring gene microRNA 4302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4295 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4297 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4298 Neighboring gene RASSF8 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:26150508-26151264 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:26151265-26152021 Neighboring gene uncharacterized LOC107984501 Neighboring gene uncharacterized LOC124902901 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:26200376-26200975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4301 Neighboring gene basic helix-loop-helix family member e41 Neighboring gene sarcospan Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:26379181-26379816 Neighboring gene ITPR2 and SSPN antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6118 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:26398995-26400194 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26902 Neighboring gene uncharacterized LOC105369705

    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

    Clone Names

    • FLJ11542, DKFZp434O0227

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ras association domain-containing protein 8
    Names
    Ras association (RalGDS/AF-6) domain family (N-terminal) member 8
    carcinoma-associated protein HOJ-1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_029077.1 RefSeqGene

      Range
      4652..118839
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164746.2NP_001158218.1  ras association domain-containing protein 8 isoform a

      See identical proteins and their annotated locations for NP_001158218.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2 and 3 encode the same isoform.
      Source sequence(s)
      AC055707, AK292333, AY665468, BE440096, DB055998
      Consensus CDS
      CCDS53765.1
      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
      UniProtKB/TrEMBL
      A8K8G8
      Related
      ENSP00000282884.9, ENST00000282884.13
      Conserved Domains (2) summary
      COG1196
      Location:160351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16134
      Location:283
      RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
    2. NM_001164747.2NP_001158219.1  ras association domain-containing protein 8 isoform a

      See identical proteins and their annotated locations for NP_001158219.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
      Source sequence(s)
      AC055707, AK290055, AY665468, BE440096
      Consensus CDS
      CCDS53765.1
      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
      UniProtKB/TrEMBL
      A8K8G8
      Related
      ENSP00000439839.1, ENST00000542865.5
      Conserved Domains (2) summary
      COG1196
      Location:160351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16134
      Location:283
      RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
    3. NM_001164748.2NP_001158220.1  ras association domain-containing protein 8 isoform a

      See identical proteins and their annotated locations for NP_001158220.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
      Source sequence(s)
      AB093206, AC055707, BE440096, DB044325
      Consensus CDS
      CCDS53765.1
      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
      UniProtKB/TrEMBL
      A8K8G8
      Related
      ENSP00000384491.1, ENST00000405154.6
      Conserved Domains (2) summary
      COG1196
      Location:160351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16134
      Location:283
      RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
    4. NM_001394094.1NP_001381023.1  ras association domain-containing protein 8 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC055707
      Consensus CDS
      CCDS53765.1
      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
      UniProtKB/TrEMBL
      A8K8G8
      Related
      ENSP00000509001.1, ENST00000688511.1
      Conserved Domains (2) summary
      COG1196
      Location:160351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16134
      Location:283
      RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
    5. NM_001394095.1NP_001381024.1  ras association domain-containing protein 8 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC055707
      Consensus CDS
      CCDS53765.1
      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
      UniProtKB/TrEMBL
      A8K8G8
      Related
      ENSP00000509645.1, ENST00000689434.1
      Conserved Domains (2) summary
      COG1196
      Location:160351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16134
      Location:283
      RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
    6. NM_001394096.1NP_001381025.1  ras association domain-containing protein 8 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC055707
      Consensus CDS
      CCDS53765.1
      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
      UniProtKB/TrEMBL
      A8K8G8
      Related
      ENSP00000443096.1, ENST00000541490.5
      Conserved Domains (2) summary
      COG1196
      Location:160351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16134
      Location:283
      RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
    7. NM_001394097.1NP_001381026.1  ras association domain-containing protein 8 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC055707
      Consensus CDS
      CCDS53765.1
      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
      UniProtKB/TrEMBL
      A8K8G8
      Conserved Domains (2) summary
      COG1196
      Location:160351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16134
      Location:283
      RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
    8. NM_001394098.1NP_001381027.1  ras association domain-containing protein 8 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC055707
      Consensus CDS
      CCDS53765.1
      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
      UniProtKB/TrEMBL
      A8K8G8
      Related
      ENSP00000510086.1, ENST00000689635.1
      Conserved Domains (2) summary
      COG1196
      Location:160351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16134
      Location:283
      RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
    9. NM_001394099.1NP_001381028.1  ras association domain-containing protein 8 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC055707
      Consensus CDS
      CCDS53765.1
      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
      UniProtKB/TrEMBL
      A8K8G8
      Conserved Domains (2) summary
      COG1196
      Location:160351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16134
      Location:283
      RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
    10. NM_001394100.1NP_001381029.1  ras association domain-containing protein 8 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC055707
      Consensus CDS
      CCDS53765.1
      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
      UniProtKB/TrEMBL
      A8K8G8
      Conserved Domains (2) summary
      COG1196
      Location:160351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16134
      Location:283
      RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
    11. NM_001394101.1NP_001381030.1  ras association domain-containing protein 8 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC055707
      Consensus CDS
      CCDS53765.1
      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
      UniProtKB/TrEMBL
      A8K8G8
      Conserved Domains (2) summary
      COG1196
      Location:160351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16134
      Location:283
      RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
    12. NM_001394102.1NP_001381031.1  ras association domain-containing protein 8 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC055707
      Consensus CDS
      CCDS53765.1
      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
      UniProtKB/TrEMBL
      A8K8G8
      Conserved Domains (2) summary
      COG1196
      Location:160351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16134
      Location:283
      RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
    13. NM_007211.5NP_009142.2  ras association domain-containing protein 8 isoform b

      See identical proteins and their annotated locations for NP_009142.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in both UTRs and in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AC055707, BC030021
      Consensus CDS
      CCDS8705.1
      UniProtKB/TrEMBL
      A8K8G8
      Related
      ENSP00000370756.3, ENST00000381352.7
      Conserved Domains (2) summary
      COG1196
      Location:160351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16134
      Location:283
      RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      25958232..26079889
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428189.1XP_047284145.1  ras association domain-containing protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
    2. XM_047428188.1XP_047284144.1  ras association domain-containing protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
    3. XM_047428187.1XP_047284143.1  ras association domain-containing protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
    4. XM_047428191.1XP_047284147.1  ras association domain-containing protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
    5. XM_047428192.1XP_047284148.1  ras association domain-containing protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
    6. XM_047428190.1XP_047284146.1  ras association domain-containing protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
    7. XM_047428186.1XP_047284142.1  ras association domain-containing protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
    8. XM_006719028.1XP_006719091.1  ras association domain-containing protein 8 isoform X1

      See identical proteins and their annotated locations for XP_006719091.1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
      UniProtKB/TrEMBL
      A8K8G8
      Conserved Domains (2) summary
      COG1196
      Location:160351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16134
      Location:283
      RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
    9. XM_024448820.2XP_024304588.1  ras association domain-containing protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
      UniProtKB/TrEMBL
      A8K8G8
      Conserved Domains (2) summary
      COG1196
      Location:160351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16134
      Location:283
      RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)
    10. XM_006719027.3XP_006719090.1  ras association domain-containing protein 8 isoform X1

      See identical proteins and their annotated locations for XP_006719090.1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
      UniProtKB/TrEMBL
      A8K8G8
      Conserved Domains (2) summary
      COG1196
      Location:160351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16134
      Location:283
      RA_RASSF8; Ras-associating (RA) domain found in N-terminal Ras-association domain family 8 (RASSF8)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      25830796..25952417
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370930.1XP_054226905.1  ras association domain-containing protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
    2. XM_054370931.1XP_054226906.1  ras association domain-containing protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
    3. XM_054370932.1XP_054226907.1  ras association domain-containing protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
    4. XM_054370925.1XP_054226900.1  ras association domain-containing protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
    5. XM_054370929.1XP_054226904.1  ras association domain-containing protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
    6. XM_054370926.1XP_054226901.1  ras association domain-containing protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
    7. XM_054370927.1XP_054226902.1  ras association domain-containing protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8
    8. XM_054370928.1XP_054226903.1  ras association domain-containing protein 8 isoform X1

      UniProtKB/Swiss-Prot
      A8K1Z0, O95647, Q5SCI2, Q76KB6, Q8NHQ8