CD99 CD99 molecule (Xg blood group) [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD99provided by HGNC
Official Full Name: CD99 molecule (Xg blood group)provided by HGNC
Primary source: HGNC:HGNC:7082
See related: Ensembl:ENSG00000002586 Ensembl:ENSG00000292348 MIM:313470; MIM:450000; AllianceGenome:HGNC:7082
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: MIC2; HBA71; MIC2X; MIC2Y; MSK5X
Summary: The protein encoded by this gene is a cell surface glycoprotein involved in leukocyte migration, T-cell adhesion, ganglioside GM1 and transmembrane protein transport, and T-cell death by a caspase-independent pathway. In addition, the encoded protein may have the ability to rearrange the actin cytoskeleton and may also act as an oncosuppressor in osteosarcoma. This gene is found in the pseudoautosomal region of chromosomes X and Y and escapes X-chromosome inactivation. There is a related pseudogene located immediately adjacent to this locus. [provided by RefSeq, Mar 2016]
Expression: Ubiquitous expression in fat (RPKM 38.2), gall bladder (RPKM 35.8) and 25 other tissues See more
Orthologs: all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: X;Y

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (2691295..2741309)
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	Y	NC_000024.10 (2691295..2741309)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (2304268..2354297)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	Y	NC_060948.1 (2368252..2418268)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (2609336..2659350)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	Y	NC_000024.9 (2559336..2609350)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Chromosome Y - NC_000024.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CD99 Modulates the Proteomic Landscape of Ewing Sarcoma Cells and Related Extracellular Vesicles.
Title: CD99 Modulates the Proteomic Landscape of Ewing Sarcoma Cells and Related Extracellular Vesicles.
CD_99 G1 neutrophils modulate osteogenic differentiation of mesenchymal stem cells in the pathological process of ankylosing spondylitis.
Title: CD_99 G1 neutrophils modulate osteogenic differentiation of mesenchymal stem cells in the pathological process of ankylosing spondylitis.
Cell Adhesion Molecule CD99 in Cancer Immunotherapy.
Title: Cell Adhesion Molecule CD99 in Cancer Immunotherapy.
Role of CD99 in regulating homeostasis and differentiation in normal human epidermal keratinocytes.
Title: Role of CD99 in regulating homeostasis and differentiation in normal human epidermal keratinocytes.
CD99 in malignant hematopoiesis.
Title: CD99 in malignant hematopoiesis.
Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99.
Title: Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99.
CD99 and polymeric immunoglobulin receptor peptides deregulation in critical COVID-19: A potential link to molecular pathophysiology?
Title: CD99 and polymeric immunoglobulin receptor peptides deregulation in critical COVID-19: A potential link to molecular pathophysiology?
Tumour cell CD99 regulates transendothelial migration via CDC42 and actin remodelling.
Title: Tumour cell CD99 regulates transendothelial migration via CDC42 and actin remodelling.
Anti-CD99 scFv-ELP nanoworms for the treatment of acute myeloid leukemia.
Title: Anti-CD99 scFv-ELP nanoworms for the treatment of acute myeloid leukemia.
Anti-human CD99 antibody exerts potent antitumor effects in mantle cell lymphoma.
Title: Anti-human CD99 antibody exerts potent antitumor effects in mantle cell lymphoma.

Submit: New GeneRIF Correction See all GeneRIFs (92)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CD99	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH38670 (e-PCR)
- UniSTS:91649

DXYS75 (e-PCR)
- UniSTS:148996

GDB:309156 (e-PCR)
- UniSTS:156420

WI-8991 (e-PCR)
- UniSTS:42265

GDB:215809 (e-PCR)
- UniSTS:156203

GDB:192493 (e-PCR)
- UniSTS:155723

DXYS228 (e-PCR)
- UniSTS:20570

G66051 (e-PCR)
- UniSTS:230042

G66054 (e-PCR)
- UniSTS:230045

G66059 (e-PCR)
- UniSTS:230050

MIC2 (e-PCR)
- UniSTS:99796

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell extravasation	IBA Inferred from Biological aspect of Ancestor more info
involved_in homotypic cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of neutrophil extravasation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in focal adhesion	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

Go to the top of the page Help

Preferred Names: CD99 antigen

Names: E2 antigen; MIC2 (monoclonal antibody 12E7); T-cell surface glycoprotein E2; antigen identified by monoclonal 12E7, Y homolog; antigen identified by monoclonal antibodies 12E7, F21 and O13; cell surface antigen 12E7; cell surface antigen HBA-71; cell surface antigen O13; surface antigen MIC2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_009174.1 RefSeqGene

Range

5109..55123

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1023

mRNA and Protein(s)

NM_001122898.3 → NP_001116370.1 CD99 antigen isoform b precursor

See identical proteins and their annotated locations for NP_001116370.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) is shorter compared to isoform a.

Source sequence(s)

BC010109, DT216927

Consensus CDS

CCDS48071.1

UniProtKB/TrEMBL

B2R932

Related

ENSP00000370582.3, ENSP00000518650.1, ENST00000381187.8, ENST00000711164.1

Conserved Domains (1) summary

pfam12301
Location:26 → 163

CD99L2; CD99 antigen like protein 2
NM_001321367.2 → NP_001308296.1 CD99 antigen isoform c precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR compared to variant 1, and encodes an isoform (c, also known as CD99sh) with a distinct, shorter C-terminus compared to isoform a.

Source sequence(s)

AC006209, BX402830, CX869233

Consensus CDS

CCDS75947.1

UniProtKB/TrEMBL

A8MQT7

Related

ENSP00000494027.1, ENSP00000518647.1, ENST00000482405.7, ENST00000711159.1

Conserved Domains (1) summary

pfam12301
Location:26 → 160

CD99L2; CD99 antigen like protein 2
NM_001321368.2 → NP_001308297.1 CD99 antigen isoform d precursor

Status: REVIEWED

Source sequence(s)

AC006209, BC002584, BI757712, CX869233

Consensus CDS

CCDS83452.1

UniProtKB/TrEMBL

A0A096LP69, B2R932

Related

ENSP00000485427.1, ENSP00000518646.1, ENST00000624481.4, ENST00000711158.1

Conserved Domains (1) summary

pfam12301
Location:26 → 178

CD99L2; CD99 antigen like protein 2
NM_001321369.2 → NP_001308298.1 CD99 antigen isoform e precursor

Status: REVIEWED

Description

Transcript Variant: This variant (6) encodes an isoform (e) of the same length but different sequence than the isoform (f) encoded by variant 7.

Source sequence(s)

BC002584, CN299062, CX869233

UniProtKB/TrEMBL

B2R932

Conserved Domains (1) summary

pfam12301
Location:34 → 162

CD99L2; CD99 antigen like protein 2
NM_001321370.2 → NP_001308299.1 CD99 antigen isoform f precursor

Status: REVIEWED

Description

Transcript Variant: This variant (7) encodes an isoform (f) of the same length but different sequence than the isoform (e) encoded by variant 6.

Source sequence(s)

AC006209

UniProtKB/TrEMBL

B2R932
NM_002414.5 → NP_002405.1 CD99 antigen isoform a precursor

See identical proteins and their annotated locations for NP_002405.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as type I) encodes the longest isoform (a, also known as CD99wt).

Source sequence(s)

BC010109

Consensus CDS

CCDS14119.1

UniProtKB/Swiss-Prot

A6NIW1, O00518, P14209, Q6ICV7

UniProtKB/TrEMBL

B2R932

Related

ENSP00000370588.3, ENSP00000518648.1, ENST00000381192.10, ENST00000711160.1

Conserved Domains (1) summary

pfam12301
Location:26 → 179

CD99L2; CD99 antigen like protein 2

RNA

NR_135623.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as type II) contains an alternate exon and uses an alternate splice junction in the 3' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC010109, U82164

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

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

2691295..2741309

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000024.10 Reference GRCh38.p14 Primary Assembly

Range

2691295..2741309

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

2304268..2354297

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060948.1 Alternate T2T-CHM13v2.0

Range

2368252..2418268

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001277710.1: Suppressed sequence

Description

NM_001277710.1: This RefSeq was removed because it is a nonsense-mediated mRNA decay (NMD) candidate.