Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	256006
Gene name	Ankyrin repeat domain 31
Gene symbol	ANKRD31
Synonyms (NCBI Gene)	-
Chromosome	5
Chromosome location	5q13.3
Summary	This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by Ref

miRTarBase ID	miRNA	Experiments	Reference
MIRT025746	hsa-miR-7-5p	Microarray	17612493

8 Show/Hide all (8)

GO ID	Ontology	Definition	Evidence
GO:0000785	Component	Chromatin	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	ISS
GO:0010780	Process	Meiotic DNA double-strand break formation involved in reciprocal meiotic recombination	ISS
GO:0051321	Process	Meiotic cell cycle	IEA
GO:1903343	Process	Positive regulation of meiotic DNA double-strand break formation	ISS

MIM	HGNC	e!Ensembl
618423	26853	ENSG00000145700

Q8N7Z5

Protein name

Ankyrin repeat domain-containing protein 31

Protein function

Required for DNA double-strand breaks (DSBs) formation during meiotic recombination. Regulates the spatial and temporal patterns of pre-DSB recombinosome assembly and recombination activity by acting as a scaffold that anchors REC114 and other f

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00023	Ank	554 → 586	Ankyrin repeat	Repeat
PF00023	Ank	521 → 553	Ankyrin repeat	Repeat
PF12796	Ank_2	1145 → 1251	Ankyrin repeats (3 copies)	Repeat
PF13857	Ank_5	1207 → 1261		Repeat
PF18755	RAMA	1679 → 1781	Restriction Enzyme Adenine Methylase Associated	Domain

Sequence

MEEGVQAPDWDSDETVIEGSVTESDLEEKELPWRRLLFDQDASLKSEFSLHPDTRGMCKG
MPSPEIQLGFKLREDLQEQMNKNKMMPVLSEDTILQSQDETERNQALLQTRKNCSMFIGS
FRQSGLSLNHQNIEGPEAESPEVLPHIEKELSEGRDSPEVSLLSGTAITVSDTVAVKETS
LVEPEKILAAPNTFFEPRKEVTMTMTSEETKDEESSLETFVSALESLLTSPESTQEERLF
ELVSDFDRKELMNPLSDSLSSISIPLNSWSACHRDLLEDAKDDALPAELLEALNTLSEAK
VETICHRKEGGSSLIARNECLEVEFNTSQTNEDCTQIAETLQDPNPSGLQTLAHQNITSC
EPLSNKRNSNSVTNSSDQETACVLRRSSRLEKLKVSRDAKYSDHMYKMPEKILPKILGCE
DLTNNNSSAQNFRMQDPALMIDGKEKNMHSARFKNGKQIRKNEQFSGKKEKMKVNKISLH
SINRRNIFGENLVYKAALHDDADLVHHCIKKGGNVNQPSYAGWTALHEASVGGFYRTASE
LLKGGADVNIKGLYQITPLHDAVMNGHYKVAELLLLNGADPLFRNDDGKCALDEAKDLCM
KRLLERYIPKHQKCLTSAQRSSIDPLDIEDVYQHKKPKFSSKSHIWHVYNENSNRQKLEH
VKVNKGSKASLFINKEDVYEYYQKDPKNTKFGKSKHKQSTLDQIYSTGLRKGNLHNVKDP
NTNVPKGIGRRKTQHKRTQVDDVDCNPRKILAVSPSRRINRLVTYQQHIPETHNDLPEEL
CEPSSLTLSSLRNGLDSSTEACSVSKEKHIQNLDLSDSQEVQCLELESVDQTEAVSFPGL
LLHKEIKLPVVTTDKQPHTLQEQHHVLYKSHENSNLVPKDERFNKWENSFLSFVKENSDN
DDDDDCSTSEKAITSKKVLCSTGGKKHYNFKENLTNKKEMGFQQFLLSEDHLSQENELKA
VSLTTLPEQEAVNFSYSDNAVISEHVANYEQCIFGPSFDHSNGNPEQNSLACMRTLLTHE
ASKLTNHVELFKKPQDYIPRAPTFLMNQTDTHIVEKMAKNCDTERNYIDRDQKIIYSNEP
LSIVAHSQVIETTKVEKRRQNHLESETIHNIDSHSTDNMSKELANISKLSQREKKEISHK
PGMKAGRINKRNARGESQLHLAVRRGNLPLVKALIESGADVNLNDNAGWTPLHEASNEGS
IDIIVELLKAGAKVNCENIDGILPLHDAVANNHLKAAEILLQNGANPNQKDQKQKSALDE
ADDEKMKELLRSYGAIETVNRDESDAIVNEKIPAVRSKRHKQCFCDDGKTIDSSSLSHQE
RSRESLSVHQTLSAILQDIEEKQEYLLEFEIRNPEDAEQYIEKMLKIKKIMDNVLAKQKA
ERDDLAKKYRVSIESFKHGALREQLANLAARQKSLLVVAKKQKKISLKIQNCRNVTSLPC
LSLRKLPPRSEISSEKDSQELTSLENLEHPQSGSLSPVSGSMQETQLSLETWNYSQNTNI
CLNSEAVRRGEFSGNDMNSKQNGSDCTLDGFPKSRHSDGTEKNKLPSQPVAFIGQTEYSQ
KENDLTEATDKDHEFYVSSPVIGKLNISETASVLAENAAHPSNIICDQDLSNYDPKRGNR
KTSSQQSPTGASESLAHQGIAVLGSDTVHQMKPYLKKSVSVVPCADDSQISSSSGSGQQD
TIKKALNYSTAPKKKCIQIKDLILLGRINPGNNILEFKTQETTHKASILLNGKLKVESGQ
IYKNPVTWLKDLLGGNSYVTWNYAWSKVTYLGKELLRYVSEDAPILPEPNSVPQQYQPCL
PEVACLDDPVQEPNKSMFEKTKFGQGTSRESMQSSPRYLQINEILLISDQEFLPCHIMDQ
HWKFCVECEELTP

Sequence length

1873

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Genetic non-acquired premature ovarian failure	Pathogenic	rs2150188446, rs1463928941	RCV001780389 RCV001780390	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (13)
ALZHEIMER DISEASE	—	GWAS catalog	31473137	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKRD31-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	27790247, 29212778, 33020668, 36474045, 38062574	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	34594039	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREMATURE OVARIAN FAILURE, FAMILIAL	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	35396580	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	32499647, 38062574, 38685053	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	31473137	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	31473137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	28242600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ANKRD31 (ankyrin repeat domain 31)

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