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HEPACAM2 HEPACAM family member 2 [ Homo sapiens (human) ]

Gene ID: 253012, updated on 17-Jun-2019

Summary

Official Symbol
HEPACAM2provided by HGNC
Official Full Name
HEPACAM family member 2provided by HGNC
Primary source
HGNC:HGNC:27364
See related
Ensembl:ENSG00000188175 MIM:614133
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
MIKI
Summary
This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be associated with myeloid leukemia and myelodysplastic syndrome in human patients. [provided by RefSeq, Oct 2016]
Expression
Biased expression in colon (RPKM 38.5), small intestine (RPKM 21.6) and 3 other tissues See more
Orthologs

Genomic context

See HEPACAM2 in Genome Data Viewer
Location:
7q21.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (93188534..93232293, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92817899..92855783, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene sterile alpha motif domain containing 9 Neighboring gene sterile alpha motif domain containing 9 like Neighboring gene VPS50 subunit of EARP/GARPII complex Neighboring gene calcitonin receptor Neighboring gene microRNA 653

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell division IEA
Inferred from Electronic Annotation
more info
 
centrosome cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
midbody IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
spindle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spindle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
HEPACAM family member 2
Names
mitotic kinetics regulator

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.

Genomic

  1. NG_051957.1 RefSeqGene

    Range
    10675..48660
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039372.4NP_001034461.1  HEPACAM family member 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001034461.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC000119, AK096002
    Consensus CDS
    CCDS43616.1
    UniProtKB/Swiss-Prot
    A8MVW5
    Related
    ENSP00000377980.2, ENST00000394468.6
    Conserved Domains (3) summary
    smart00408
    Location:167226
    IGc2; Immunoglobulin C-2 Type
    pfam07679
    Location:149232
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:105174
    Ig; Immunoglobulin domain
  2. NM_001288804.3NP_001275733.1  HEPACAM family member 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (3) is longer and lacks a predicted signal peptide compared to isoform 1.
    Source sequence(s)
    AC000119, AK298361, BC139906
    Consensus CDS
    CCDS75632.1
    UniProtKB/Swiss-Prot
    A8MVW5
    Related
    ENSP00000390204.2, ENST00000453812.2
    Conserved Domains (3) summary
    smart00408
    Location:190249
    IGc2; Immunoglobulin C-2 Type
    pfam07679
    Location:172255
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:128197
    Ig; Immunoglobulin domain
  3. NM_001288810.3NP_001275739.1  HEPACAM family member 2 isoform 4 precursor

    See identical proteins and their annotated locations for NP_001275739.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, contains a novel 5' coding region, initiates translation at an alternate start site and lacks an exon in the 3' coding region compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC000119, AY358345, BC046365, BC139906
    Consensus CDS
    CCDS75631.1
    UniProtKB/Swiss-Prot
    A8MVW5
    UniProtKB/TrEMBL
    C9JN07
    Related
    ENSP00000389592.1, ENST00000440868.5
    Conserved Domains (3) summary
    smart00408
    Location:155214
    IGc2; Immunoglobulin C-2 Type
    pfam07679
    Location:137220
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:93162
    Ig; Immunoglobulin domain
  4. NM_001346642.1NP_001333571.1  HEPACAM family member 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream translation start site compared to variant 1. The encoded isoform (5) contains a shorter N-terminus and lacks a predicted signal peptide compared to isoform 1.
    Source sequence(s)
    AC000119, AC002453
  5. NM_198151.4NP_937794.1  HEPACAM family member 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_937794.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, contains a novel 5' coding region, and initiates translation at an alternate start site compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to variant 1.
    Source sequence(s)
    AC000119, AY358345, BC139906, H75859
    Consensus CDS
    CCDS5629.1
    UniProtKB/Swiss-Prot
    A8MVW5
    Related
    ENSP00000340532.4, ENST00000341723.8
    Conserved Domains (2) summary
    pfam13927
    Location:136211
    Ig_3; Immunoglobulin domain
    cl11960
    Location:25130
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens 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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    93188534..93232293 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516001.2XP_011514303.1  HEPACAM family member 2 isoform X1

    See identical proteins and their annotated locations for XP_011514303.1

    Conserved Domains (3) summary
    smart00408
    Location:92151
    IGc2; Immunoglobulin C-2 Type
    pfam07679
    Location:74157
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:3099
    Ig; Immunoglobulin domain
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