Seroatlas · Human Serome Atlas

ANKRD44

Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B

Also known as: ANR44_HUMAN, PP6-ARS-B

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

Protein identityUniProt · HPA

UniProt accession: Q8N8A2
Gene: ANKRD44
Ensembl: ENSG00000065413
Chromosome: 2
Canonical length: 993 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nuclear speckles,Mitochondria

OverviewNCBI Gene

No narrative summary is available for ANKRD44 in this catalog release; identity and structured annotations are shown without generated factual claims.

Canonical amino-acid sequenceUniProt

993 residues, UniProt reviewed canonical sequence.

>Q8N8A2|ANKRD44
     1  MAVLKLTDQP PLVQAIFSGD PEEIRMLIHK TEDVNTLDSE KRTPLHVAAF LGDAEIIELL
    61  ILSGARVNAK DNMWLTPLHR AVASRSEEAV QVLIKHSADV NARDKNWQTP LHVAAANKAV
   121  KCAEVIIPLL SSVNVSDRGG RTALHHAALN GHVEMVNLLL AKGANINAFD KKDRRALHWA
   181  AYMGHLDVVA LLINHGAEVT CKDKKGYTPL HAAASNGQIN VVKHLLNLGV EIDEINVYGN
   241  TALHIACYNG QDAVVNELID YGANVNQPNN NGFTPLHFAA ASTHGALCLE LLVNNGADVN
   301  IQSKDGKSPL HMTAVHGRFT RSQTLIQNGG EIDCVDKDGN TPLHVAARYG HELLINTLIT
   361  SGADTAKCGI HSMFPLHLAA LNAHSDCCRK LLSSGFEIDT PDKFGRTCLH AAAAGGNVEC
   421  IKLLQSSGAD FHKKDKCGRT PLHYAAANCH FHCIETLVTT GANVNETDDW GRTALHYAAA
   481  SDMDRNKTIL GNAHDNSEEL ERARELKEKE ATLCLEFLLQ NDANPSIRDK EGYNSIHYAA
   541  AYGHRQCLEL LLERTNSGFE ESDSGATKSP LHLAAYNGHH QALEVLLQSL VDLDIRDEKG
   601  RTALDLAAFK GHTECVEALI NQGASIFVKD NVTKRTPLHA SVINGHTLCL RLLLEIADNP
   661  EAVDVKDAKG QTPLMLAVAY GHIDAVSLLL EKEANVDTVD ILGCTALHRG IMTGHEECVQ
   721  MLLEQEVSIL CKDSRGRTPL HYAAARGHAT WLSELLQMAL SEEDCCFKDN QGYTPLHWAC
   781  YNGNENCIEV LLEQKCFRKF IGNPFTPLHC AIINDHGNCA SLLLGAIDSS IVSCRDDKGR
   841  TPLHAAAFAD HVECLQLLLR HSAPVNAVDN SGKTALMMAA ENGQAGAVDI LVNSAQADLT
   901  VKDKDLNTPL HLACSKGHEK CALLILDKIQ DESLINEKNN ALQTPLHVAA RNGLKVVVEE
   961  LLAKGACVLA VDENASRSNG PRSTPGTAVQ KEE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ANKRD44 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: Unknown
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.24
Highest tissue expression: 34 nTPM

Expression across tissuesHPA

Tissue

lymph node: 34 nTPM
tonsil: 31 nTPM
thymus: 26 nTPM
appendix: 23 nTPM
spleen: 22 nTPM
bone marrow: 16 nTPM

Single-cell type

neutrophils: 1,925 nCPM
microglia: 1,515 nCPM
b-cells: 1,470 nCPM
thymocytes: 894 nCPM
t-cells: 779 nCPM
podocytes: 727 nCPM

Immune cell

neutrophil: 69 nTPM
basophil: 55 nTPM
eosinophil: 46 nTPM
naive B-cell: 29 nTPM
non-classical monocyte: 25 nTPM
naive CD8 T-cell: 25 nTPM

Brain region

white matter: 39 nTPM
medulla oblongata: 37 nTPM
pons: 36 nTPM
thalamus: 34 nTPM
cerebral cortex: 32 nTPM
basal ganglia: 31 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ANKRD44.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 144 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with hypotonia, seizures, and absent language

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): 0.53
gnomAD pLI: 0.34
gnomAD missense Z: 1.03
DepMap mean gene effect: 0.09
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ANKRD44 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ANKRD44 as an antibody target. Whether an autoantibody or antibody against ANKRD44 could matter depends on whether native ANKRD44 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ANKRD44 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 ANKRD44 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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