Seroatlas · Human Serome Atlas

HMX2

Homeobox protein HMX2

Also known as: HMX2_HUMAN, NKX5-2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: A2RU54
Gene: HMX2
Ensembl: ENSG00000188816
Chromosome: 10
Canonical length: 273 aa
Protein class: Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in this family are of ancient origin and play an important role in organ development during embryogenesis. A related mouse protein plays a role in patterning of inner ear structures. In humans, variations in a region containing this gene have been associated with inner ear malformations, vestibular dysfunction, and hearing loss. [provided by RefSeq, Aug 2012]

Canonical amino-acid sequenceUniProt

273 residues, UniProt reviewed canonical sequence.

>A2RU54|HMX2
     1  MGSKEDAGKG CPAAGGVSSF TIQSILGGGP SEAPREPVGW PARKRSLSVS SEEEEPDDGW
    61  KAPACFCPDQ HGPKEQGPKH HPPIPFPCLG TPKGSGGSGP GGLERTPFLS PSHSDFKEEK
   121  ERLLPAGSPS PGSERPRDGG AERQAGAAKK KTRTVFSRSQ VYQLESTFDM KRYLSSSERA
   181  CLASSLQLTE TQVKTWFQNR RNKWKRQLSA ELEAANMAHA SAQTLVSMPL VFRDSSLLRV
   241  PVPRSLAFPA PLYYPGSNLS ALPLYNLYNK LDY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HMX2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.64
Highest tissue expression: 1.8 nTPM

Expression across tissuesHPA

Tissue

kidney: 1.8 nTPM
hypothalamus: 1.7 nTPM
colon: 0.1 nTPM
duodenum: 0.1 nTPM
small intestine: 0.1 nTPM
adipose tissue: 0 nTPM

Single-cell type

tuft cells: 35 nCPM
renal collecting duct intercalated cells: 5.8 nCPM
basal prostatic cells: 2.7 nCPM
other brain neurons: 2.6 nCPM
differentiating spermatogonia: 1 nCPM
pancreatic acinar cells: 0.7 nCPM

Immune cell

naive CD4 T-cell: 0.2 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

midbrain: 4.7 nTPM
hypothalamus: 2.7 nTPM
pons: 1.5 nTPM
medulla oblongata: 0.7 nTPM
thalamus: 0.5 nTPM
amygdala: 0.1 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.59
gnomAD pLI: 0
gnomAD missense Z: -0.09
DepMap mean gene effect: 0.11
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HMX2 as an antibody target. Whether an autoantibody or antibody against HMX2 could matter depends on whether native HMX2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HMX2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label HMX2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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