ANKMY2 ankyrin repeat and MYND domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANKMY2provided by HGNC
Official Full Name: ankyrin repeat and MYND domain containing 2provided by HGNC
Primary source: HGNC:HGNC:25370
See related: Ensembl:ENSG00000106524
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ZMYND20
Expression: Ubiquitous expression in heart (RPKM 13.9), thyroid (RPKM 13.4) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 7p21.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
109.20191205	current	GRCh38.p13 (GCF_000001405.39)	7	NC_000007.14 (16599779..16645816, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (16639401..16685442, complement)

Chromosome 7 - NC_000007.14 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?

Submit: New GeneRIF Correction

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)

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

RH104082 (e-PCR)
- UniSTS:98407

SHGC-17250 (e-PCR)
- UniSTS:41425

D7S2088E (e-PCR)
- UniSTS:29651

Homology

Homologs of the ANKMY2 gene: The ANKMY2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 301 organisms have orthologs with human gene ANKMY2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enzyme binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
cilium	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: ankyrin repeat and MYND domain-containing protein 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

mRNA and Protein(s)

NM_020319.3 → NP_064715.1 ankyrin repeat and MYND domain-containing protein 2

See identical proteins and their annotated locations for NP_064715.1

Status: VALIDATED

Source sequence(s)

BC015453, BC035353

Consensus CDS

CCDS5361.1

UniProtKB/Swiss-Prot

Q8IV38

UniProtKB/TrEMBL

A0A024R9Z6

Related

ENSP00000303570.2, ENST00000306999.7

Conserved Domains (4) summary

cd00204
Location:31 → 132

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:45 → 77

ANK; ANK repeat [structural motif]

pfam01753
Location:320 → 357

zf-MYND; MYND finger

cl26073
Location:30 → 236

Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p13 Primary Assembly

Range

16599779..16645816 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011515458.2 → XP_011513760.1 ankyrin repeat and MYND domain-containing protein 2 isoform X1

Conserved Domains (4) summary

cd00204
Location:1 → 86

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam01753
Location:274 → 311

zf-MYND; MYND finger

pfam13857
Location:19 → 74

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:2 → 31

ANK; ANK repeat [structural motif]